TPD_ID Disease_Names ICD-11 Source OrphaID/Cellosaurus verified NCIt code TPD-000ICQ Kennedy disease 8B61.4 Orphanet 481 TPD-000ICQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-000ICQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-000ICQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-004EZ5 Kennedy disease 8B61.4 Orphanet 481 TPD-004EZ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-004EZ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-004EZ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-005PQR Noonan syndrome LD2F.15 Orphanet 648 TPD-005PQR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-005PQR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-005PQR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-005PQR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-005PQR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-005PQR Lynch syndrome 2B90.Y Orphanet 144 TPD-005PQR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-005PQR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-006615 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-006615 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-00E926 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-00GKH5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-00GKJU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-00GKJU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-00GKJU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-00GKJU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-00GKJU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-00GKJU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-00GKJU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-00GKJU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-00GKJU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-00MKD6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-00MKD6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-00MPTM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-00OJ37 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-00OJ37 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-00OJ37 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-00OJ37 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-00OJ37 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-00OJ37 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-00OJ37 Semantic dementia 6D83 Orphanet 100069 TPD-00OJ37 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-00Q82T Noonan syndrome LD2F.15 Orphanet 648 TPD-00Q82T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-00Q82T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-00Q82T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-00Q82T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-00Q82T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-00Q82T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-00Q82T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-00Q82T Craniopharyngioma 2F9A Orphanet 54595 TPD-00Q82T Cushing disease 5A70.0 Orphanet 96253 TPD-00UU6K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-00ZR26 Kennedy disease 8B61.4 Orphanet 481 TPD-00ZR26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-00ZR26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-00ZR26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-013SZ0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-013SZ0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-013SZ0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0152HI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0152HI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0152HI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0160HF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-018BAC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-019R8S Familial melanoma QC61.Y Orphanet 618 TPD-019R8S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-01A2AP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-01A2AP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-01A2AP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-01E67F Noonan syndrome LD2F.15 Orphanet 648 TPD-01E67F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-01E67F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-01E67F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-01E67F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-01E67F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-01E67F Lynch syndrome 2B90.Y Orphanet 144 TPD-01E67F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-01E67F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-01FLLG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-01FLLG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-01FLLG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-01FLLG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-01FXO9 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-01GZJY Noonan syndrome LD2F.15 Orphanet 648 TPD-01GZJY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-01GZJY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-01GZJY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-01GZJY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-01GZJY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-01GZJY Lynch syndrome 2B90.Y Orphanet 144 TPD-01GZJY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-01GZJY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-01I4G0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-01I4G0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-01L2AW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-01LPOR Familial melanoma QC61.Y Orphanet 618 TPD-01LPOR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-01M164 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-01M164 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-01M164 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-01NOZS Noonan syndrome LD2F.15 Orphanet 648 TPD-01NOZS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-01NOZS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-01NOZS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-01NOZS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-01NOZS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-01NOZS Lynch syndrome 2B90.Y Orphanet 144 TPD-01NOZS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-01NOZS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-01TWVZ Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-01TWVZ Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-01TWVZ Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-01TWVZ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-01TWVZ Primary myelofibrosis 2A20.2 Orphanet 824 TPD-01TWVZ Polycythemia vera 2A20.4 Orphanet 729 TPD-01TWVZ Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-01URO9 Familial melanoma QC61.Y Orphanet 618 TPD-01URO9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-01W85S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-01W85S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-01W85S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-01YRNX Noonan syndrome LD2F.15 Orphanet 648 TPD-01YRNX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-01YRNX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-01YRNX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-01YRNX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-01YRNX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-01YRNX Lynch syndrome 2B90.Y Orphanet 144 TPD-01YRNX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-01YRNX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-020FXK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-021U2D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0224RB Noonan syndrome LD2F.15 Orphanet 648 TPD-0224RB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0224RB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0224RB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0224RB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0224RB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0224RB Lynch syndrome 2B90.Y Orphanet 144 TPD-0224RB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0224RB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0225UE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0225UE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-022WI4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-022WI4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0244J2 Kennedy disease 8B61.4 Orphanet 481 TPD-0244J2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0244J2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0244J2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-02571A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-02571A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-02571A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-02571A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0263TX Noonan syndrome LD2F.15 Orphanet 648 TPD-0263TX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0263TX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0263TX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0263TX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0263TX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0263TX Lynch syndrome 2B90.Y Orphanet 144 TPD-0263TX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0263TX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-026RDS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-026RDS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-026RDS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-029L19 Familial melanoma QC61.Y Orphanet 618 TPD-029L19 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-02EGRP Noonan syndrome LD2F.15 Orphanet 648 TPD-02EGRP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-02EGRP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-02EGRP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-02EGRP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-02EGRP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-02EGRP Lynch syndrome 2B90.Y Orphanet 144 TPD-02EGRP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-02EGRP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-02FIE7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-02LF4N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-02MMWJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-02NQT0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-02NQT0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-02NQT0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-02NQT0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-02NQT0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-02NQT0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-02NQT0 Semantic dementia 6D83 Orphanet 100069 TPD-02NQT0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-02UDT8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-02UDT8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-02XK3D Kennedy disease 8B61.4 Orphanet 481 TPD-02XK3D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-02XK3D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-02XK3D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0318B6 Kennedy disease 8B61.4 Orphanet 481 TPD-0318B6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0318B6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0318B6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-032GFV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0366LF Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-038VWZ Kennedy disease 8B61.4 Orphanet 481 TPD-038VWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-038VWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-038VWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-03AUEX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-03BV6S Kennedy disease 8B61.4 Orphanet 481 TPD-03BV6S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-03BV6S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-03BV6S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-03E7QO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-03KTQE Noonan syndrome LD2F.15 Orphanet 648 TPD-03KTQE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-03KTQE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-03KTQE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-03KTQE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-03KTQE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-03KTQE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-03KTQE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-03KTQE Craniopharyngioma 2F9A Orphanet 54595 TPD-03KTQE Cushing disease 5A70.0 Orphanet 96253 TPD-03P3MD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-03RGTP Noonan syndrome LD2F.15 Orphanet 648 TPD-03RGTP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-03RGTP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-03RGTP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-03RGTP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-03RGTP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-03RGTP Lynch syndrome 2B90.Y Orphanet 144 TPD-03RGTP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-03RGTP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-03TJEJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-03TJEJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-03TJEJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-03VHG5 Noonan syndrome LD2F.15 Orphanet 648 TPD-03VHG5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-03VHG5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-03VHG5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-03VHG5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-03VHG5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-03VHG5 Lynch syndrome 2B90.Y Orphanet 144 TPD-03VHG5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-03VHG5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-03XC9G Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-03ZH1D Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-03ZH1D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-03ZH1D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-03ZH1D Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-03ZH1D Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-03ZH1D Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-03ZH1D Osteosarcoma 2B51 Orphanet 668 TPD-03ZH1D Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-03ZH1D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-03ZH1D Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-03ZH1D Small cell lung cancer 2C25.1 Orphanet 70573 TPD-03ZH1D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-03ZH1D Cushing disease 5A70.0 Orphanet 96253 TPD-03ZH1D Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-03ZH1D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-041F7M Kennedy disease 8B61.4 Orphanet 481 TPD-041F7M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-041F7M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-041F7M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-04309J Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-04309J Wilson-Turner syndrome LD29 Orphanet 3459 TPD-046W87 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-049ESM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-049ESM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-049ESM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-049ESM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-04AMAF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-04AMAF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-04AMAF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-04AMAF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-04AZAC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-04CJZ5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-04D8SU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-04E2CM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-04E2CM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-04ESY5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-04KTBP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-04KTBP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-04LHMB Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-04M5QG Noonan syndrome LD2F.15 Orphanet 648 TPD-04M5QG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-04M5QG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-04M5QG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-04M5QG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-04M5QG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-04M5QG Lynch syndrome 2B90.Y Orphanet 144 TPD-04M5QG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-04M5QG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-04MF9M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-04OHF1 Kennedy disease 8B61.4 Orphanet 481 TPD-04OHF1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-04OHF1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-04OHF1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-04PVLD Oligodontia LA30.2 Orphanet 99798 TPD-04PZUC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-04Q0EN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-04Q35Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-04Q35Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-04Q35Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-04SYJS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-04TC66 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-04TC66 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-04W7FD Noonan syndrome LD2F.15 Orphanet 648 TPD-04W7FD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-04W7FD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-04W7FD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-04W7FD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-04W7FD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-04W7FD Lynch syndrome 2B90.Y Orphanet 144 TPD-04W7FD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-04W7FD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-04YR73 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-04YR73 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-04YR73 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-04YR73 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-052KAG Noonan syndrome LD2F.15 Orphanet 648 TPD-052KAG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-052KAG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-052KAG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-052KAG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-052KAG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-052KAG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-052KAG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-052KAG Craniopharyngioma 2F9A Orphanet 54595 TPD-052KAG Cushing disease 5A70.0 Orphanet 96253 TPD-055UZP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-055UZP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-055UZP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-059Y5D Kennedy disease 8B61.4 Orphanet 481 TPD-059Y5D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-059Y5D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-059Y5D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-05AFJM Familial melanoma QC61.Y Orphanet 618 TPD-05AFJM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-05CAQE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-05CAQE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-05CAQE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-05FFW0 Kennedy disease 8B61.4 Orphanet 481 TPD-05FFW0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-05FFW0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-05FFW0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-05GX7I Kennedy disease 8B61.4 Orphanet 481 TPD-05GX7I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-05GX7I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-05GX7I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-05GZ1I Kennedy disease 8B61.4 Orphanet 481 TPD-05GZ1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-05GZ1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-05GZ1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-05IU0E Noonan syndrome LD2F.15 Orphanet 648 TPD-05IU0E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-05IU0E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-05IU0E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-05IU0E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-05IU0E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-05IU0E Lynch syndrome 2B90.Y Orphanet 144 TPD-05IU0E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-05IU0E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-05JIT8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-05JIT8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-05O45I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-05OTN0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-05OTN0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-05OTN0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-05R1TZ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-05R3J7 Noonan syndrome LD2F.15 Orphanet 648 TPD-05R3J7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-05R3J7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-05R3J7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-05R3J7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-05R3J7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-05R3J7 Lynch syndrome 2B90.Y Orphanet 144 TPD-05R3J7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-05R3J7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-05WBFT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-05WBFT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-05WBFT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-05WBFT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-05X91J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-05X91J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-05X91J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-05X91J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0631NB Noonan syndrome LD2F.15 Orphanet 648 TPD-0631NB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0631NB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0631NB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0631NB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0631NB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0631NB Lynch syndrome 2B90.Y Orphanet 144 TPD-0631NB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0631NB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-065KCZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0676SU Weaver syndrome LD2C Orphanet 3447 TPD-067VZH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-067XGI Noonan syndrome LD2F.15 Orphanet 648 TPD-067XGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-067XGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-067XGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-067XGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-067XGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-067XGI Lynch syndrome 2B90.Y Orphanet 144 TPD-067XGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-067XGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-068PJN Noonan syndrome LD2F.15 Orphanet 648 TPD-068PJN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-068PJN Metachondromatosis LD24.2Y Orphanet 2499 TPD-068PJN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-06F77E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-06KROW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-06KROW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-06OPWL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-06OPWL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-06OPWL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-06OPWL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-06P9WK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-06P9WK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-06P9WK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-06PRMR Familial melanoma QC61.Y Orphanet 618 TPD-06RZMM Noonan syndrome LD2F.15 Orphanet 648 TPD-06RZMM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-06RZMM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-06RZMM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-06RZMM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-06RZMM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-06RZMM Lynch syndrome 2B90.Y Orphanet 144 TPD-06RZMM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-06RZMM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-06VM69 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-06VM69 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-06YIYX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-06YIYX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-06YIYX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-06YIYX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-06ZUYQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-06ZUYQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-06ZUYQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-070PRU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0711QN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0711QN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0711QN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0711QN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-071AEH Burkitt lymphoma XH4KA9 Orphanet 543 TPD-071AEH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-071AEH Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-071Y55 Kennedy disease 8B61.4 Orphanet 481 TPD-071Y55 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-071Y55 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-071Y55 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0765XH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-076EBP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-076EBP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-076EBP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-076F2J Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-076F2J Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-076VPB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-078MM9 Kennedy disease 8B61.4 Orphanet 481 TPD-078MM9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-078MM9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-078MM9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-079DNL Kennedy disease 8B61.4 Orphanet 481 TPD-079DNL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-079DNL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-079DNL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-079QI3 Kennedy disease 8B61.4 Orphanet 481 TPD-079QI3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-079QI3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-079QI3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-07GBTE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-07GBTE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-07GBTE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-07HH2C Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-07HH2C Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-07HH2C Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-07HH2C Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-07HHDC Noonan syndrome LD2F.15 Orphanet 648 TPD-07HHDC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-07HHDC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-07HHDC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-07HHDC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-07HHDC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-07HHDC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-07HHDC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-07HHDC Craniopharyngioma 2F9A Orphanet 54595 TPD-07HHDC Cushing disease 5A70.0 Orphanet 96253 TPD-07I5FO Noonan syndrome LD2F.15 Orphanet 648 TPD-07I5FO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-07I5FO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-07I5FO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-07I5FO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-07I5FO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-07I5FO Lynch syndrome 2B90.Y Orphanet 144 TPD-07I5FO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-07I5FO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-07QDLI Kennedy disease 8B61.4 Orphanet 481 TPD-07QDLI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-07QDLI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-07QDLI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-07SCF0 Familial melanoma QC61.Y Orphanet 618 TPD-07SCF0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-07SPWM Kennedy disease 8B61.4 Orphanet 481 TPD-07SPWM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-07SPWM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-07SPWM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-07THBZ Lynch syndrome 2B90.Y Orphanet 144 TPD-07THBZ Congenital tufting enteropathy DA90.Y Orphanet 92050 TPD-07VA8M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-07Y65R Kennedy disease 8B61.4 Orphanet 481 TPD-07Y65R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-07Y65R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-07Y65R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-08529Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-08DJDI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-08F4E4 Kennedy disease 8B61.4 Orphanet 481 TPD-08F4E4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-08F4E4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-08F4E4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-08GU7A Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-08H0UX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-08H0UX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-08H0UX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-08H0UX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-08H0UX Neuroblastoma 2A00.11 Orphanet 635 TPD-08H0UX Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-08H0UX ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-08H0UX ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-08H0UX Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-08HBQA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-08LETR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-08PCL9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-08PCL9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-08PCL9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-08PCL9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-08PQ2F Familial melanoma QC61.Y Orphanet 618 TPD-08PQ2F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-08SI05 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-08SXEY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-08SXEY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-08TWRS Kennedy disease 8B61.4 Orphanet 481 TPD-08TWRS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-08TWRS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-08TWRS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-08UP96 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-08UP96 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-08WSXE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-08WSXE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-08XGVB Noonan syndrome LD2F.15 Orphanet 648 TPD-08XGVB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-08XGVB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-08XGVB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-08XGVB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-08XGVB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-08XGVB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-08XGVB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-08XGVB Craniopharyngioma 2F9A Orphanet 54595 TPD-08XGVB Cushing disease 5A70.0 Orphanet 96253 TPD-08YRQU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-08YRQU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-08YRQU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-091OOY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-093BIZ Kennedy disease 8B61.4 Orphanet 481 TPD-093BIZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-093BIZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-093BIZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-096EWX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-096V09 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-096V09 CINCA syndrome 4A60.1 Orphanet 1451 TPD-096V09 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-097A8Q Noonan syndrome LD2F.15 Orphanet 648 TPD-097A8Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-097A8Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-097A8Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-097A8Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-097A8Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-097A8Q Lynch syndrome 2B90.Y Orphanet 144 TPD-097A8Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-097A8Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-097W7F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-097W7F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-097W7F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0993BV Congenital fibrosis of extraocular muscles 9C82.2 Orphanet 45358 TPD-09BRXM Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-09BRXM Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-09BRXM Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-09BRXM Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-09BRXM Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-09BRXM Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-09BRXM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-09BRXM Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-09BRXM Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-09F328 Kennedy disease 8B61.4 Orphanet 481 TPD-09F328 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09F328 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09F328 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09HEC7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-09HEC7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-09HEC7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-09JN6J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-09M5LZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-09M5LZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-09M5LZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-09M5LZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-09N5K3 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-09N5K3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-09N7H8 Kennedy disease 8B61.4 Orphanet 481 TPD-09N7H8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09N7H8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09N7H8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09NNUI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-09NNUI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-09NRO5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-09POP9 Familial melanoma QC61.Y Orphanet 618 TPD-09POP9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-09QQRR Kennedy disease 8B61.4 Orphanet 481 TPD-09QQRR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09QQRR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09QQRR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09RQYH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-09RQYH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-09RQYH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-09S867 Kennedy disease 8B61.4 Orphanet 481 TPD-09S867 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09S867 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09S867 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09T7PC Kennedy disease 8B61.4 Orphanet 481 TPD-09T7PC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09T7PC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09T7PC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09TFGU Noonan syndrome LD2F.15 Orphanet 648 TPD-09TFGU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-09TFGU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-09TFGU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-09TFGU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-09TFGU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-09TFGU Lynch syndrome 2B90.Y Orphanet 144 TPD-09TFGU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-09TFGU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-09V8S4 Kennedy disease 8B61.4 Orphanet 481 TPD-09V8S4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-09V8S4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-09V8S4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-09VA30 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-09VA30 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0A1K5W Kennedy disease 8B61.4 Orphanet 481 TPD-0A1K5W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0A1K5W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0A1K5W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0A2PKK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0A2PKK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0A2PKK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0A3DMJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0A3DMJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0A3DMJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0A49OY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0A49OY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0A74FZ Kennedy disease 8B61.4 Orphanet 481 TPD-0A74FZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0A74FZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0A74FZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0A7OPZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0A7OPZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0A7OPZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0A7OPZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0A7OPZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0A7OPZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0A7OPZ Semantic dementia 6D83 Orphanet 100069 TPD-0A7OPZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0A81TJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0A81TJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0A81TJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0A989U Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0A989U Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0A989U Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0A989U Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0A989U Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0A989U Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0A989U Semantic dementia 6D83 Orphanet 100069 TPD-0A989U Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0AABHY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0AK2G1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-0AOCHP Noonan syndrome LD2F.15 Orphanet 648 TPD-0AOCHP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0AOCHP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0AOCHP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0AOCHP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0AOCHP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0AOCHP Lynch syndrome 2B90.Y Orphanet 144 TPD-0AOCHP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0AOCHP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0AX3HB Noonan syndrome LD2F.15 Orphanet 648 TPD-0AX3HB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0AX3HB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0AX3HB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0AX3HB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0AX3HB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0AX3HB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0AX3HB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0AX3HB Craniopharyngioma 2F9A Orphanet 54595 TPD-0AX3HB Cushing disease 5A70.0 Orphanet 96253 TPD-0AY0I6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0AY0I6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0B56X4 Kennedy disease 8B61.4 Orphanet 481 TPD-0B56X4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0B56X4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0B56X4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0B67MC Kennedy disease 8B61.4 Orphanet 481 TPD-0B67MC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0B67MC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0B67MC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0B6DC7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0B86B3 Weaver syndrome LD2C Orphanet 3447 TPD-0B9Z1T Kennedy disease 8B61.4 Orphanet 481 TPD-0B9Z1T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0B9Z1T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0B9Z1T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0BBMXD Kennedy disease 8B61.4 Orphanet 481 TPD-0BBMXD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0BBMXD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0BBMXD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0BC6IR Kennedy disease 8B61.4 Orphanet 481 TPD-0BC6IR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0BC6IR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0BC6IR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0BFM3O Kennedy disease 8B61.4 Orphanet 481 TPD-0BFM3O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0BFM3O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0BFM3O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0BFMII Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0BFMII Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0BFMII Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0BGDP5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0BGWOW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0BGWOW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0BGWOW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0BM9RN Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-0BM9RN Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-0BM9RN Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-0BM9RN Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-0BM9RN Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-0BM9RN Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-0BM9RN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0BM9RN Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-0BM9RN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0BNKRQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0BNKRQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0BP3HT Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-0BRIGF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0BSXUZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0BSXUZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0BWOCJ Kennedy disease 8B61.4 Orphanet 481 TPD-0BWOCJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0BWOCJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0BWOCJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0BX4BQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0BX4BQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0C2S51 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0C3AC0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0C3AC0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0C3AC0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0C3AC0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0C59HW Noonan syndrome LD2F.15 Orphanet 648 TPD-0C59HW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0C59HW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0C59HW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0C59HW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0C59HW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0C59HW Lynch syndrome 2B90.Y Orphanet 144 TPD-0C59HW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0C59HW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0C7IP3 Familial melanoma QC61.Y Orphanet 618 TPD-0C7IP3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0C939W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0C939W Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0C939W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0C96HH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0C9HFP Noonan syndrome LD2F.15 Orphanet 648 TPD-0C9HFP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0C9HFP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0C9HFP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0C9HFP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0C9HFP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0C9HFP Lynch syndrome 2B90.Y Orphanet 144 TPD-0C9HFP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0C9HFP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0CAA1N Familial melanoma QC61.Y Orphanet 618 TPD-0CAA1N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0CESXZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0CESXZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0CQPDM Kennedy disease 8B61.4 Orphanet 481 TPD-0CQPDM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0CQPDM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0CQPDM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0CRKS1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0CTFAX Noonan syndrome LD2F.15 Orphanet 648 TPD-0CTFAX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0CTFAX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0CTFAX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0CTFAX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0CTFAX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0CTFAX Lynch syndrome 2B90.Y Orphanet 144 TPD-0CTFAX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0CTFAX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0CXXUP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0CXXUP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0D03HI Noonan syndrome LD2F.15 Orphanet 648 TPD-0D03HI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0D03HI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0D03HI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0D03HI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0D03HI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0D03HI Lynch syndrome 2B90.Y Orphanet 144 TPD-0D03HI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0D03HI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0D0Y8Z Noonan syndrome LD2F.15 Orphanet 648 TPD-0D0Y8Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0D0Y8Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0D0Y8Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0D0Y8Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0D0Y8Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0D0Y8Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0D0Y8Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0D0Y8Z Craniopharyngioma 2F9A Orphanet 54595 TPD-0D0Y8Z Cushing disease 5A70.0 Orphanet 96253 TPD-0D5SKE Noonan syndrome LD2F.15 Orphanet 648 TPD-0D5SKE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0D5SKE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0D5SKE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0D5SKE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0D5SKE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0D5SKE Lynch syndrome 2B90.Y Orphanet 144 TPD-0D5SKE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0D5SKE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0D7HA6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0D7HA6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0DC5TB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-0DC5TB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-0DEW1I Kennedy disease 8B61.4 Orphanet 481 TPD-0DEW1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0DEW1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0DEW1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0DGD8E Kennedy disease 8B61.4 Orphanet 481 TPD-0DGD8E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0DGD8E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0DGD8E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0DHH92 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0DI0T5 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-0DKAI5 Kennedy disease 8B61.4 Orphanet 481 TPD-0DKAI5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0DKAI5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0DKAI5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0DKYVT Noonan syndrome LD2F.15 Orphanet 648 TPD-0DKYVT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0DKYVT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0DKYVT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0DKYVT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0DKYVT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0DKYVT Lynch syndrome 2B90.Y Orphanet 144 TPD-0DKYVT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0DKYVT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0DN9O5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0DN9O5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0DN9O5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0DOSBE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0DOSBE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0DS0FH Familial melanoma QC61.Y Orphanet 618 TPD-0DS0FH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0DSKH5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0DU19B Burkitt lymphoma XH4KA9 Orphanet 543 TPD-0DU19B Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0DU19B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0DUJYW Noonan syndrome LD2F.15 Orphanet 648 TPD-0DUJYW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0DUJYW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0DUJYW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0DUJYW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0DUJYW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0DUJYW Lynch syndrome 2B90.Y Orphanet 144 TPD-0DUJYW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0DUJYW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0DWCJS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0DWCJS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0DWCJS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0DWCJS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0E07SZ Noonan syndrome LD2F.15 Orphanet 648 TPD-0E07SZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0E07SZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0E07SZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0E07SZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0E07SZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0E07SZ Lynch syndrome 2B90.Y Orphanet 144 TPD-0E07SZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0E07SZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0E9VGV Kennedy disease 8B61.4 Orphanet 481 TPD-0E9VGV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0E9VGV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0E9VGV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0EBXKY Noonan syndrome LD2F.15 Orphanet 648 TPD-0EBXKY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0EBXKY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0EBXKY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0EBXKY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0EBXKY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0EBXKY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0EBXKY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0EBXKY Craniopharyngioma 2F9A Orphanet 54595 TPD-0EBXKY Cushing disease 5A70.0 Orphanet 96253 TPD-0EF4W4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0EF4W4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0EF4W4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0EGT0K Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-0EGT0K Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-0EHIW1 Familial melanoma QC61.Y Orphanet 618 TPD-0EHIW1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0EMATB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0EMATB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0EMATB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0EMATB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0EOZYW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0EOZYW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0EOZYW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0EPB5P Familial melanoma QC61.Y Orphanet 618 TPD-0EPB5P Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0EPTTT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0ESXC2 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-0ESXMS Noonan syndrome LD2F.15 Orphanet 648 TPD-0ESXMS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0ESXMS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0ESXMS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0ESXMS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0ESXMS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0ESXMS Lynch syndrome 2B90.Y Orphanet 144 TPD-0ESXMS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0ESXMS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0EUBU4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0EUK34 Kennedy disease 8B61.4 Orphanet 481 TPD-0EUK34 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0EUK34 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0EUK34 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0EUZDT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0EUZDT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0EUZDT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0EZTL7 Familial melanoma QC61.Y Orphanet 618 TPD-0EZTL7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0F16IG Kennedy disease 8B61.4 Orphanet 481 TPD-0F16IG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0F16IG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0F16IG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0F2UQD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0F2UQD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0F2UQD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0F4O72 Noonan syndrome LD2F.15 Orphanet 648 TPD-0F4O72 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0F4O72 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0F4O72 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0F4O72 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0F4O72 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0F4O72 Lynch syndrome 2B90.Y Orphanet 144 TPD-0F4O72 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0F4O72 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0F5YUO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0F5YUO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0F5YUO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0FB9QH Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-0FB9QH Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-0FCPYO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-0FCPYO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-0FCPYO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-0FCPYO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-0FCPYO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-0FCPYO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-0FCPYO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0FCPYO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-0FCPYO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0FIELA Kennedy disease 8B61.4 Orphanet 481 TPD-0FIELA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0FIELA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0FIELA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0FKNQX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0FKNQX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0FKNQX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0FKNQX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0FMIDP Kennedy disease 8B61.4 Orphanet 481 TPD-0FMIDP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0FMIDP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0FMIDP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0FPA69 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-0FSCSW Kennedy disease 8B61.4 Orphanet 481 TPD-0FSCSW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0FSCSW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0FSCSW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0FSLGV Noonan syndrome LD2F.15 Orphanet 648 TPD-0FSLGV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0FSLGV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0FSLGV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0FSLGV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0FSLGV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0FSLGV Lynch syndrome 2B90.Y Orphanet 144 TPD-0FSLGV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0FSLGV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0G31RS Noonan syndrome LD2F.15 Orphanet 648 TPD-0G31RS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0G31RS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0G31RS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0G31RS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0G31RS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0G31RS Lynch syndrome 2B90.Y Orphanet 144 TPD-0G31RS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0G31RS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0G4JPG Kennedy disease 8B61.4 Orphanet 481 TPD-0G4JPG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0G4JPG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0G4JPG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0G4YN9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0G74F1 Noonan syndrome LD2F.15 Orphanet 648 TPD-0G74F1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0G74F1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0G74F1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0G74F1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0G74F1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0G74F1 Lynch syndrome 2B90.Y Orphanet 144 TPD-0G74F1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0G74F1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0G9RQ7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0GF9AQ Noonan syndrome LD2F.15 Orphanet 648 TPD-0GF9AQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0GF9AQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0GF9AQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0GF9AQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0GF9AQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0GF9AQ Lynch syndrome 2B90.Y Orphanet 144 TPD-0GF9AQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0GF9AQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0GK6P8 Kennedy disease 8B61.4 Orphanet 481 TPD-0GK6P8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0GK6P8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0GK6P8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0GMX0A Noonan syndrome LD2F.15 Orphanet 648 TPD-0GMX0A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0GMX0A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0GMX0A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0GMX0A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0GMX0A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0GMX0A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0GMX0A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0GMX0A Craniopharyngioma 2F9A Orphanet 54595 TPD-0GMX0A Cushing disease 5A70.0 Orphanet 96253 TPD-0GR38M Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0GU8CZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0H1B75 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0H20UG Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-0H20UG CINCA syndrome 4A60.1 Orphanet 1451 TPD-0H20UG Familial cold urticaria 4A60.1 Orphanet 47045 TPD-0H423W Kennedy disease 8B61.4 Orphanet 481 TPD-0H423W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0H423W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0H423W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0H6KY7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0H6KY7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0H6KY7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0HBCSA Noonan syndrome LD2F.15 Orphanet 648 TPD-0HBCSA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0HBCSA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0HBCSA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0HBCSA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0HBCSA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0HBCSA Lynch syndrome 2B90.Y Orphanet 144 TPD-0HBCSA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0HBCSA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0HBIV4 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-0HBIV4 Epithelioid hemangioendothelioma 2B5Y/XH9GF8 Orphanet 157791 TPD-0HIV64 Kennedy disease 8B61.4 Orphanet 481 TPD-0HIV64 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0HIV64 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0HIV64 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0HJLMP Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0HK63C Kennedy disease 8B61.4 Orphanet 481 TPD-0HK63C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0HK63C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0HK63C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0HMPD3 Kennedy disease 8B61.4 Orphanet 481 TPD-0HMPD3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0HMPD3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0HMPD3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0HNC1U Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0HNU3L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0HNU3L Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0HOM0O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0HOWES Noonan syndrome LD2F.15 Orphanet 648 TPD-0HOWES Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0HOWES Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0HOWES Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0HOWES Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0HOWES Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0HOWES Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0HOWES Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0HOWES Craniopharyngioma 2F9A Orphanet 54595 TPD-0HOWES Cushing disease 5A70.0 Orphanet 96253 TPD-0HQVJC Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0HT2MG Noonan syndrome LD2F.15 Orphanet 648 TPD-0HT2MG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0HT2MG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0HT2MG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0HT2MG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0HT2MG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0HT2MG Lynch syndrome 2B90.Y Orphanet 144 TPD-0HT2MG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0HT2MG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0HYNL0 Kennedy disease 8B61.4 Orphanet 481 TPD-0HYNL0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0HYNL0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0HYNL0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0I6DE8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0I6DE8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0I6Y9U Kennedy disease 8B61.4 Orphanet 481 TPD-0I6Y9U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0I6Y9U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0I6Y9U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0I7LR2 Hirschsprung disease LB16.1 Orphanet 388 TPD-0I7LR2 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-0I7LR2 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-0I8BY0 Noonan syndrome LD2F.15 Orphanet 648 TPD-0I8BY0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0I8BY0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0I8BY0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0I8BY0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0I8BY0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0I8BY0 Lynch syndrome 2B90.Y Orphanet 144 TPD-0I8BY0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0I8BY0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0I8E1X Noonan syndrome LD2F.15 Orphanet 648 TPD-0I8E1X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0I8E1X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0I8E1X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0I8E1X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0I8E1X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0I8E1X Lynch syndrome 2B90.Y Orphanet 144 TPD-0I8E1X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0I8E1X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0I99U6 Noonan syndrome LD2F.15 Orphanet 648 TPD-0I99U6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0I99U6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0I99U6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0I99U6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0I99U6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0I99U6 Lynch syndrome 2B90.Y Orphanet 144 TPD-0I99U6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0I99U6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0IB82D Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-0IB82D Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-0IB82D Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-0IB82D Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-0IB82D Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-0IB82D Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-0IB82D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0IB82D Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-0IB82D Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0IF6DK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0IF6DK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0IHSWM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0IIGD9 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-0IIGD9 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-0IIUDN Familial melanoma QC61.Y Orphanet 618 TPD-0IIUDN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0IMXLG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0IREKU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0IREKU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0IREKU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0IRUMJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0IRUMJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0ITCWV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0ITCWV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0IYC16 Familial melanoma QC61.Y Orphanet 618 TPD-0IYC16 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0IYWAH Noonan syndrome LD2F.15 Orphanet 648 TPD-0IYWAH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0IYWAH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0IYWAH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0IYWAH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0IYWAH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0IYWAH Lynch syndrome 2B90.Y Orphanet 144 TPD-0IYWAH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0IYWAH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0J120P Kennedy disease 8B61.4 Orphanet 481 TPD-0J120P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0J120P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0J120P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0J7VAG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0JA61O Noonan syndrome LD2F.15 Orphanet 648 TPD-0JA61O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0JA61O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0JA61O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0JA61O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0JA61O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0JA61O Lynch syndrome 2B90.Y Orphanet 144 TPD-0JA61O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0JA61O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0JASG3 Familial melanoma QC61.Y Orphanet 618 TPD-0JFZ3T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0JFZ3T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0JGP26 Noonan syndrome LD2F.15 Orphanet 648 TPD-0JGP26 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0JGP26 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0JGP26 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0JGP26 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0JGP26 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0JGP26 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0JGP26 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0JGP26 Craniopharyngioma 2F9A Orphanet 54595 TPD-0JGP26 Cushing disease 5A70.0 Orphanet 96253 TPD-0JIF10 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0JIF10 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0JIF10 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0JIF10 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0JNOGY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0JNOGY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0JQVE6 Noonan syndrome LD2F.15 Orphanet 648 TPD-0JQVE6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0JQVE6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0JQVE6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0JQVE6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0JQVE6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0JQVE6 Lynch syndrome 2B90.Y Orphanet 144 TPD-0JQVE6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0JQVE6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0JQVR0 Noonan syndrome LD2F.15 Orphanet 648 TPD-0JQVR0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0JQVR0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0JQVR0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0JQVR0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0JQVR0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0JQVR0 Lynch syndrome 2B90.Y Orphanet 144 TPD-0JQVR0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0JQVR0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0JRVAI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0JRVAI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0JSPQV Kennedy disease 8B61.4 Orphanet 481 TPD-0JSPQV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0JSPQV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0JSPQV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0JSQ69 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0JSQ69 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0JUP4L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0JUP4L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0JUP4L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0JUP4L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0K0SBP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0K0SBP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0K0SBP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0K0SBP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0K5RTQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0K5RTQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0K5RTQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0K6JBU Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-0K6JBU Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-0K8P80 Kennedy disease 8B61.4 Orphanet 481 TPD-0K8P80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0K8P80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0K8P80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0K8ZT8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0K8ZT8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0K8ZT8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0K91VU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0KAGOR Noonan syndrome LD2F.15 Orphanet 648 TPD-0KAGOR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0KAGOR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0KAGOR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0KAGOR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0KAGOR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0KAGOR Lynch syndrome 2B90.Y Orphanet 144 TPD-0KAGOR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0KAGOR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0KB661 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0KDPAB Noonan syndrome LD2F.15 Orphanet 648 TPD-0KDPAB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0KDPAB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0KDPAB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0KDPAB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0KDPAB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0KDPAB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0KDPAB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0KDPAB Craniopharyngioma 2F9A Orphanet 54595 TPD-0KDPAB Cushing disease 5A70.0 Orphanet 96253 TPD-0KG3MH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0KG3MH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0KG3MH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0KJES2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0KK29Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0KK29Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0KLNPT Kennedy disease 8B61.4 Orphanet 481 TPD-0KLNPT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0KLNPT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0KLNPT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0KOO23 Noonan syndrome LD2F.15 Orphanet 648 TPD-0KOO23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0KOO23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0KOO23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0KOO23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0KOO23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0KOO23 Lynch syndrome 2B90.Y Orphanet 144 TPD-0KOO23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0KOO23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0KQBOQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0KWG2T Noonan syndrome LD2F.15 Orphanet 648 TPD-0KWG2T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0KWG2T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0KWG2T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0KWG2T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0KWG2T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0KWG2T Lynch syndrome 2B90.Y Orphanet 144 TPD-0KWG2T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0KWG2T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0L6WSZ Noonan syndrome LD2F.15 Orphanet 648 TPD-0L6WSZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0L6WSZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0L6WSZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0L6WSZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0L6WSZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0L6WSZ Lynch syndrome 2B90.Y Orphanet 144 TPD-0L6WSZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0L6WSZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0LCSIA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0LCSIA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0LCSIA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0LKZ2L Kennedy disease 8B61.4 Orphanet 481 TPD-0LKZ2L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0LKZ2L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0LKZ2L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0LLBEB Familial melanoma QC61.Y Orphanet 618 TPD-0LLBEB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0LNPDG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0LQEPD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0LQEPD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0LQEPD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0LVU4I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0LVU4I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0LVU4I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0M4J0K Hirschsprung disease LB16.1 Orphanet 388 TPD-0M4J0K Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-0M4J0K Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-0M5AKH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0M5AKH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0M5AKH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0M5AKH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0M6NYB Kennedy disease 8B61.4 Orphanet 481 TPD-0M6NYB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0M6NYB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0M6NYB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0M8HKA Kennedy disease 8B61.4 Orphanet 481 TPD-0M8HKA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0M8HKA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0M8HKA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0MAV74 Kennedy disease 8B61.4 Orphanet 481 TPD-0MAV74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0MAV74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0MAV74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0MFGKS Noonan syndrome LD2F.15 Orphanet 648 TPD-0MFGKS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0MFGKS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0MFGKS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0MFGKS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0MFGKS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0MFGKS Lynch syndrome 2B90.Y Orphanet 144 TPD-0MFGKS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0MFGKS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0MFZVQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0MFZVQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0MFZVQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0MKQF5 Kennedy disease 8B61.4 Orphanet 481 TPD-0MKQF5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0MKQF5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0MKQF5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0MLT6L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0MLT6L Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0MOQQD Familial melanoma QC61.Y Orphanet 618 TPD-0MOQQD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0MQOQP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0MQOQP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0MS4XR Kennedy disease 8B61.4 Orphanet 481 TPD-0MS4XR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0MS4XR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0MS4XR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0MSP4H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0MULJM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0MULJM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0MXKYW Noonan syndrome LD2F.15 Orphanet 648 TPD-0MXKYW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0MXKYW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0MXKYW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0MXKYW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0MXKYW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0MXKYW Lynch syndrome 2B90.Y Orphanet 144 TPD-0MXKYW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0MXKYW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0MYVJ1 Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-0MZN2Z CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0N0FAB Kennedy disease 8B61.4 Orphanet 481 TPD-0N0FAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0N0FAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0N0FAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0N0SXN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0N3W51 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0N433H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0N8XEP Noonan syndrome LD2F.15 Orphanet 648 TPD-0N8XEP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0N8XEP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0N8XEP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0N8XEP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0N8XEP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0N8XEP Lynch syndrome 2B90.Y Orphanet 144 TPD-0N8XEP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0N8XEP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0N9MP4 Familial melanoma QC61.Y Orphanet 618 TPD-0N9MP4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0NDH7H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0NDH7H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0NDMAQ Kennedy disease 8B61.4 Orphanet 481 TPD-0NDMAQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0NDMAQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0NDMAQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0NE7OT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0NE7OT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0NE7OT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0NE7OT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0NF9TL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0NFO30 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0NKCBG Noonan syndrome LD2F.15 Orphanet 648 TPD-0NKCBG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0NKCBG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0NKCBG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0NKCBG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0NKCBG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0NKCBG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0NKCBG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0NKCBG Craniopharyngioma 2F9A Orphanet 54595 TPD-0NKCBG Cushing disease 5A70.0 Orphanet 96253 TPD-0NNPVN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0NSBRA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0NSBRA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0NSJXE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0NSJXE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0NSJXE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0NTQ74 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0NTQ74 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0NTQ74 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0NU070 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0NWHJ2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0NWHJ2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0NWHJ2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0NZMOU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0NZMOU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0NZMOU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0O0VVZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0O0VVZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0O0WHY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0O0WHY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0O0WHY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0O1TVU Kennedy disease 8B61.4 Orphanet 481 TPD-0O1TVU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0O1TVU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0O1TVU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0O2P95 Kennedy disease 8B61.4 Orphanet 481 TPD-0O2P95 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0O2P95 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0O2P95 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0O42JM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0O4SU0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0O4YO9 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0O4YO9 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0O4YO9 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0O4YO9 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0O4YO9 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0O4YO9 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0O4YO9 Semantic dementia 6D83 Orphanet 100069 TPD-0O4YO9 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0O5URK Kennedy disease 8B61.4 Orphanet 481 TPD-0O5URK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0O5URK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0O5URK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0O8AMP Kennedy disease 8B61.4 Orphanet 481 TPD-0O8AMP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0O8AMP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0O8AMP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0OAQRY Noonan syndrome LD2F.15 Orphanet 648 TPD-0OAQRY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0OAQRY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0OAQRY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0OAQRY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0OAQRY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0OAQRY Lynch syndrome 2B90.Y Orphanet 144 TPD-0OAQRY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0OAQRY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0OEQ7Y CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0OGC1V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0OGC1V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0OGC1V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0OH31C Kennedy disease 8B61.4 Orphanet 481 TPD-0OH31C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0OH31C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0OH31C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0OJC2T Kennedy disease 8B61.4 Orphanet 481 TPD-0OJC2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0OJC2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0OJC2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0OL7SJ Familial melanoma QC61.Y Orphanet 618 TPD-0OL7SJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0OMMOL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0OMMOL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0OMMOL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0OMZVM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0OMZVM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0OSRUC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0OSRUC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0OSRUC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0OSRUC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0OVSH1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0OZC8O Noonan syndrome LD2F.15 Orphanet 648 TPD-0OZC8O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0OZC8O Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0OZC8O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0OZC8O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0OZC8O Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0OZC8O Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0OZC8O Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0OZC8O Craniopharyngioma 2F9A Orphanet 54595 TPD-0OZC8O Cushing disease 5A70.0 Orphanet 96253 TPD-0OZWIR Noonan syndrome LD2F.15 Orphanet 648 TPD-0OZWIR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0OZWIR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0OZWIR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0OZWIR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0OZWIR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0OZWIR Lynch syndrome 2B90.Y Orphanet 144 TPD-0OZWIR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0OZWIR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0P2YD6 Noonan syndrome LD2F.15 Orphanet 648 TPD-0P2YD6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0P2YD6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0P2YD6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0P2YD6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0P2YD6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0P2YD6 Lynch syndrome 2B90.Y Orphanet 144 TPD-0P2YD6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0P2YD6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0P3G9G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0P3G9G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0P3G9G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0P3G9G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0P5NR6 Kennedy disease 8B61.4 Orphanet 481 TPD-0P5NR6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0P5NR6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0P5NR6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0P5ZXE Noonan syndrome LD2F.15 Orphanet 648 TPD-0P5ZXE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0P5ZXE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0P5ZXE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0P5ZXE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0P5ZXE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0P5ZXE Lynch syndrome 2B90.Y Orphanet 144 TPD-0P5ZXE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0P5ZXE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0P6PB9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0PA53V Noonan syndrome LD2F.15 Orphanet 648 TPD-0PA53V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0PA53V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0PA53V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0PA53V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0PA53V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0PA53V Lynch syndrome 2B90.Y Orphanet 144 TPD-0PA53V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0PA53V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0PBTT1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0PBTT1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0PBWOD Familial melanoma QC61.Y Orphanet 618 TPD-0PBWOD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0PCBE2 Weaver syndrome LD2C Orphanet 3447 TPD-0PDE4D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0PDE4D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0PEKQ9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0PEKQ9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0PEKQ9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0PEKQ9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0PG7S0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0PGMC5 Kennedy disease 8B61.4 Orphanet 481 TPD-0PGMC5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0PGMC5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0PGMC5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0PHJ5U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0PI4OQ Kennedy disease 8B61.4 Orphanet 481 TPD-0PI4OQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0PI4OQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0PI4OQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0PLKKF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0PLKKF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0PLKKF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0PM9UB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0PM9UB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0PS12K Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0PS2X5 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-0PS2X5 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-0PS2X5 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-0PS2X5 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-0PS2X5 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-0PS2X5 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-0PS2X5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0PS2X5 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-0PS2X5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0PTLM8 Noonan syndrome LD2F.15 Orphanet 648 TPD-0PTLM8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0PTLM8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0PTLM8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0PTLM8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0PTLM8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0PTLM8 Lynch syndrome 2B90.Y Orphanet 144 TPD-0PTLM8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0PTLM8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0PXFUV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0PXFUV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0Q5KJT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0Q5KJT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0Q7VRZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0Q7VRZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0QFZYR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0QFZYR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0QJ2ZP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0QJ2ZP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0QJ2ZP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0QJ2ZP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0QN6DW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0QTXB2 Kennedy disease 8B61.4 Orphanet 481 TPD-0QTXB2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0QTXB2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0QTXB2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0QUIG3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0QUIG3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0QUIG3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0QUIG3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0QZP2F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0QZP2F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0QZP2F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0QZP2F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0R0DO9 Familial melanoma QC61.Y Orphanet 618 TPD-0R0DO9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0R0R72 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0R289H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0R2QPW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0R3KF3 Kennedy disease 8B61.4 Orphanet 481 TPD-0R3KF3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0R3KF3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0R3KF3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0R5MWD Noonan syndrome LD2F.15 Orphanet 648 TPD-0R5MWD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0R5MWD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0R5MWD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0R5MWD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0R5MWD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0R5MWD Lynch syndrome 2B90.Y Orphanet 144 TPD-0R5MWD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0R5MWD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0R6AB4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0R6AB4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0R6WFA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0R79Y4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0R79Y4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0R79Y4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0R8QAX Noonan syndrome LD2F.15 Orphanet 648 TPD-0R8QAX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0R8QAX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0R8QAX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0R8QAX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0R8QAX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0R8QAX Lynch syndrome 2B90.Y Orphanet 144 TPD-0R8QAX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0R8QAX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0R9J1D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0R9J1D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0RAJPB Kennedy disease 8B61.4 Orphanet 481 TPD-0RAJPB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0RAJPB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0RAJPB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0RBGDP Noonan syndrome LD2F.15 Orphanet 648 TPD-0RBGDP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0RBGDP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0RBGDP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0RBGDP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0RBGDP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0RBGDP Lynch syndrome 2B90.Y Orphanet 144 TPD-0RBGDP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0RBGDP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0RCF9L Kennedy disease 8B61.4 Orphanet 481 TPD-0RCF9L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0RCF9L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0RCF9L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0RDGHA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0RDGHA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0RDGHA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0RHO40 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0RHO40 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0RJULS Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-0RJULS Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-0RJULS Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-0RJULS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-0RJULS Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-0RJULS Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-0RJULS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0RJULS Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-0RJULS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-0RK4YX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0RQ8W5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0RSC9B Noonan syndrome LD2F.15 Orphanet 648 TPD-0RSC9B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0RSC9B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0RSC9B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0RSC9B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0RSC9B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0RSC9B Lynch syndrome 2B90.Y Orphanet 144 TPD-0RSC9B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0RSC9B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0RTQUU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0RTQUU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0RZF1F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0S46D2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0SBR40 Noonan syndrome LD2F.15 Orphanet 648 TPD-0SBR40 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0SBR40 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0SBR40 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0SBR40 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0SBR40 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0SBR40 Lynch syndrome 2B90.Y Orphanet 144 TPD-0SBR40 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0SBR40 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0SEXUT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0SGKHL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0SH5VD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0SH5VD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0SH5VD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0SM67W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0SM67W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0SNOIZ Noonan syndrome LD2F.15 Orphanet 648 TPD-0SNOIZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0SNOIZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0SNOIZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0SNOIZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0SNOIZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0SNOIZ Lynch syndrome 2B90.Y Orphanet 144 TPD-0SNOIZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0SNOIZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0SOT1G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0SPC34 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0SPC34 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0SPC34 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0SPKV6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0SPTE9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0SPTE9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0SPTE9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0SQBO8 Noonan syndrome LD2F.15 Orphanet 648 TPD-0SQBO8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0SQBO8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0SQBO8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0SQBO8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0SQBO8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0SQBO8 Lynch syndrome 2B90.Y Orphanet 144 TPD-0SQBO8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0SQBO8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0SX6IF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0SX6IF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0T06TK Kennedy disease 8B61.4 Orphanet 481 TPD-0T06TK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0T06TK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0T06TK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0T2AVT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0T2AVT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0T2AVT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0T2HRH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0T2HRH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0T44J4 Weaver syndrome LD2C Orphanet 3447 TPD-0T65BK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0T65BK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0T65BK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0T65BK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0T7PL3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0T7PL3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0T7PL3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0T9EQL Kennedy disease 8B61.4 Orphanet 481 TPD-0T9EQL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0T9EQL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0T9EQL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0T9XFS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0T9XFS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0T9XFS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0T9XFS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0T9XFS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0T9XFS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0T9XFS Semantic dementia 6D83 Orphanet 100069 TPD-0T9XFS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0TDIHX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0TDUTI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0TFGBC Noonan syndrome LD2F.15 Orphanet 648 TPD-0TFGBC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0TFGBC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0TFGBC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0TFGBC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0TFGBC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0TFGBC Lynch syndrome 2B90.Y Orphanet 144 TPD-0TFGBC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0TFGBC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0TMDLB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0TMDLB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0TMDLB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0TMDLB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0TMDLB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0TMDLB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0TMDLB Semantic dementia 6D83 Orphanet 100069 TPD-0TMDLB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0TRT9Y Kennedy disease 8B61.4 Orphanet 481 TPD-0TRT9Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0TRT9Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0TRT9Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0U0Z0H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0U4FWR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0U4FWR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0U4FWR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0U5Y7I Weaver syndrome LD2C Orphanet 3447 TPD-0U8GYM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0U8K1A Noonan syndrome LD2F.15 Orphanet 648 TPD-0U8K1A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0U8K1A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0U8K1A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0U8K1A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0U8K1A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0U8K1A Lynch syndrome 2B90.Y Orphanet 144 TPD-0U8K1A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0U8K1A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0U8NNZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0U9CNP Kennedy disease 8B61.4 Orphanet 481 TPD-0U9CNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0U9CNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0U9CNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0UCDXX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0UGHR2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0UGHR2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0UGHR2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0UGHR2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0UILNJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0UILNJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0UILNJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0UILNJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0UILNJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0UILNJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0UILNJ Semantic dementia 6D83 Orphanet 100069 TPD-0UILNJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0UNKT0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0UNKT0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0UNKT0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0UNN8M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0UNN8M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0UNN8M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0UNN8M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0UPCXH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-0UPCXH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-0UUH3C CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0UYRNP Kennedy disease 8B61.4 Orphanet 481 TPD-0UYRNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0UYRNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0UYRNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0UZEDS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0UZEDS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0UZEDS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0UZEDS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0UZEDS Neuroblastoma 2A00.11 Orphanet 635 TPD-0UZEDS Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-0UZEDS ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-0UZEDS ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-0UZEDS Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-0V0PKJ Kennedy disease 8B61.4 Orphanet 481 TPD-0V0PKJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0V0PKJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0V0PKJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0V0QW0 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0V0VD7 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-0V1FA9 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-0V9Y0A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0V9Y0A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0V9Y0A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0V9Y0A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0VAKHK Kennedy disease 8B61.4 Orphanet 481 TPD-0VAKHK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0VAKHK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0VAKHK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0VAL13 Familial melanoma QC61.Y Orphanet 618 TPD-0VAL13 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0VGTLD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0VGTLD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0VGTLD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0VGZPN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0VJSAA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0VJSAA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0VPTLW Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-0VPTW0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0VPTW0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0VPTW0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0VSVY2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0VSVY2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0VSVY2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0VYUR0 Kennedy disease 8B61.4 Orphanet 481 TPD-0VYUR0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0VYUR0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0VYUR0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0VZLJA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0VZLJA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0VZLJA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0VZLJA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0W0H44 Noonan syndrome LD2F.15 Orphanet 648 TPD-0W0H44 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0W0H44 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0W0H44 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0W0H44 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0W0H44 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0W0H44 Lynch syndrome 2B90.Y Orphanet 144 TPD-0W0H44 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0W0H44 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0W4KC1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0W4KC1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0W4SWH Noonan syndrome LD2F.15 Orphanet 648 TPD-0W4SWH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0W4SWH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0W4SWH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0W4SWH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0W4SWH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0W4SWH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0W4SWH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0W4SWH Craniopharyngioma 2F9A Orphanet 54595 TPD-0W4SWH Cushing disease 5A70.0 Orphanet 96253 TPD-0W7M1N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-0W7M1N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-0W7YJZ Noonan syndrome LD2F.15 Orphanet 648 TPD-0W7YJZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0W7YJZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0W7YJZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0W7YJZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0W7YJZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0W7YJZ Lynch syndrome 2B90.Y Orphanet 144 TPD-0W7YJZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0W7YJZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0W8G15 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0W8G15 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0W8G15 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0W8G15 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0WADC4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0WADC4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0WAWUE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0WAWUE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0WAWUE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0WB804 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0WBSIW Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0WJGQT Noonan syndrome LD2F.15 Orphanet 648 TPD-0WJGQT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0WJGQT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0WJGQT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0WJGQT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0WJGQT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0WJGQT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0WJGQT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0WJGQT Craniopharyngioma 2F9A Orphanet 54595 TPD-0WJGQT Cushing disease 5A70.0 Orphanet 96253 TPD-0WLC0D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0WLC0D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0WLC0D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0WNNBM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0WOBVO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0WOX46 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0WOX46 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0WOX46 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0WPCNK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0WPCNK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0WPMGH Kennedy disease 8B61.4 Orphanet 481 TPD-0WPMGH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0WPMGH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0WPMGH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0WT7WY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0WT7WY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0WT7WY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0WW2M5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0WW2M5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0WW2M5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0WXEWF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0X11PG Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-0X2LYB Kennedy disease 8B61.4 Orphanet 481 TPD-0X2LYB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0X2LYB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0X2LYB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0X2VT4 Noonan syndrome LD2F.15 Orphanet 648 TPD-0X2VT4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0X2VT4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0X2VT4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0X2VT4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0X2VT4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0X2VT4 Lynch syndrome 2B90.Y Orphanet 144 TPD-0X2VT4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0X2VT4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0X4J5M Noonan syndrome LD2F.15 Orphanet 648 TPD-0X4J5M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0X4J5M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0X4J5M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0X4J5M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0X4J5M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0X4J5M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0X4J5M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0X4J5M Craniopharyngioma 2F9A Orphanet 54595 TPD-0X4J5M Cushing disease 5A70.0 Orphanet 96253 TPD-0X71BM Familial melanoma QC61.Y Orphanet 618 TPD-0X71BM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0XCX1L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0XCX1L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0XCX1L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0XGTYQ Noonan syndrome LD2F.15 Orphanet 648 TPD-0XGTYQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0XGTYQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0XGTYQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0XGTYQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0XGTYQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0XGTYQ Lynch syndrome 2B90.Y Orphanet 144 TPD-0XGTYQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0XGTYQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0XGXGD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0XGXGD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0XGXGD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0XHQXR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-0XIA1L Noonan syndrome LD2F.15 Orphanet 648 TPD-0XIA1L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0XIA1L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0XIA1L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0XIA1L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0XIA1L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0XIA1L Lynch syndrome 2B90.Y Orphanet 144 TPD-0XIA1L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0XIA1L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0XILTJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0XIMHP Noonan syndrome LD2F.15 Orphanet 648 TPD-0XIMHP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0XIMHP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0XIMHP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0XIMHP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0XIMHP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0XIMHP Lynch syndrome 2B90.Y Orphanet 144 TPD-0XIMHP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0XIMHP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0XK3PD Weaver syndrome LD2C Orphanet 3447 TPD-0XLE5U Noonan syndrome LD2F.15 Orphanet 648 TPD-0XLE5U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0XLE5U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0XLE5U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0XLE5U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0XLE5U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0XLE5U Lynch syndrome 2B90.Y Orphanet 144 TPD-0XLE5U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0XLE5U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0XLKDI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0XOGPL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0XP8LY Familial melanoma QC61.Y Orphanet 618 TPD-0XP8LY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0XQLNR Kennedy disease 8B61.4 Orphanet 481 TPD-0XQLNR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0XQLNR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0XQLNR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0XRLKD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0XT8DN Kennedy disease 8B61.4 Orphanet 481 TPD-0XT8DN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0XT8DN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0XT8DN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0XU5NV Vein of Galen aneurysmal malformation LA90.20 Orphanet 1053 TPD-0XU5NV Meige disease BD93.0 Orphanet 90186 TPD-0XU5NV Tetralogy of Fallot LA88.2 Orphanet 3303 TPD-0XW9WT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0XW9WT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0Y19MM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0Y19MM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0Y19MM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0Y2QW4 Familial melanoma QC61.Y Orphanet 618 TPD-0Y2QW4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-0Y6M1X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0Y6M1X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0Y74H9 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-0Y74H9 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-0Y74H9 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-0Y8KR7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-0YB1BG Noonan syndrome LD2F.15 Orphanet 648 TPD-0YB1BG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0YB1BG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0YB1BG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0YB1BG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0YB1BG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0YB1BG Lynch syndrome 2B90.Y Orphanet 144 TPD-0YB1BG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0YB1BG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0YBFDG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0YBFDG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0YC84Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0YC84Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0YD1GV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0YD1GV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0YD1GV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0YD1GV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0YD1GV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0YD1GV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0YD1GV Semantic dementia 6D83 Orphanet 100069 TPD-0YD1GV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0YK4F9 Kennedy disease 8B61.4 Orphanet 481 TPD-0YK4F9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0YK4F9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0YK4F9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0YKBVB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0YKBVB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0YKBVB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0YL3QV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-0YL3QV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-0YL3QV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-0YL3QV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-0YL3QV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-0YL3QV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-0YL3QV Semantic dementia 6D83 Orphanet 100069 TPD-0YL3QV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-0YLDSE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0YLDSE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0YLDSE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0YLDSE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0YMV6K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0YMV6K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0YMV6K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0YS981 Kennedy disease 8B61.4 Orphanet 481 TPD-0YS981 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0YS981 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0YS981 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0YSW66 Kennedy disease 8B61.4 Orphanet 481 TPD-0YSW66 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0YSW66 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0YSW66 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0YTR48 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0YTR48 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0YTR48 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0YTR48 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0YUVIW Noonan syndrome LD2F.15 Orphanet 648 TPD-0YUVIW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0YUVIW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0YUVIW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0YUVIW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0YUVIW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0YUVIW Lynch syndrome 2B90.Y Orphanet 144 TPD-0YUVIW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0YUVIW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0YVLYE Noonan syndrome LD2F.15 Orphanet 648 TPD-0YVLYE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0YVLYE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0YVLYE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0YVLYE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0YVLYE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0YVLYE Lynch syndrome 2B90.Y Orphanet 144 TPD-0YVLYE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0YVLYE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0YVQP7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0YW7AQ Noonan syndrome LD2F.15 Orphanet 648 TPD-0YW7AQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0YW7AQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0YW7AQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0YW7AQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0YW7AQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0YW7AQ Lynch syndrome 2B90.Y Orphanet 144 TPD-0YW7AQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0YW7AQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0YXV0F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0YXV0F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0YZ35X Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-0Z029K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-0Z4BLZ Noonan syndrome LD2F.15 Orphanet 648 TPD-0Z4BLZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0Z4BLZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0Z4BLZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0Z4BLZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0Z4BLZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0Z4BLZ Lynch syndrome 2B90.Y Orphanet 144 TPD-0Z4BLZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0Z4BLZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0Z5I4T Kennedy disease 8B61.4 Orphanet 481 TPD-0Z5I4T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0Z5I4T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0Z5I4T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0Z5XMO Noonan syndrome LD2F.15 Orphanet 648 TPD-0Z5XMO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-0Z5XMO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-0Z5XMO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0Z5XMO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0Z5XMO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-0Z5XMO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-0Z5XMO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-0Z5XMO Craniopharyngioma 2F9A Orphanet 54595 TPD-0Z5XMO Cushing disease 5A70.0 Orphanet 96253 TPD-0Z5XRQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0Z5XRQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0Z5XRQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0Z8MXG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0Z8MXG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0Z8MXG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0Z8Q8Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-0Z8Q8Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-0Z8Q8Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-0ZAHDX Kennedy disease 8B61.4 Orphanet 481 TPD-0ZAHDX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0ZAHDX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0ZAHDX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0ZDN0Q Kennedy disease 8B61.4 Orphanet 481 TPD-0ZDN0Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0ZDN0Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0ZDN0Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0ZFBAQ Kennedy disease 8B61.4 Orphanet 481 TPD-0ZFBAQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0ZFBAQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0ZFBAQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-0ZKTE9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-0ZKTE9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-0ZKTE9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-0ZNJE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-0ZNJE4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-0ZNJE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-0ZNJE4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-0ZNJE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-0ZNJE4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-0ZNJE4 Lynch syndrome 2B90.Y Orphanet 144 TPD-0ZNJE4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-0ZNJE4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-0ZNPWL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-0ZP30J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-0ZP30J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-0ZRJZL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-0ZRJZL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-0ZT55V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-0ZT55V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-0ZT55V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-0ZT55V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-0ZVNCI Kennedy disease 8B61.4 Orphanet 481 TPD-0ZVNCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-0ZVNCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-0ZVNCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-100I4H Kennedy disease 8B61.4 Orphanet 481 TPD-100I4H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-100I4H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-100I4H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-100YOG Kennedy disease 8B61.4 Orphanet 481 TPD-100YOG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-100YOG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-100YOG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-10384U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-103KSR Familial melanoma QC61.Y Orphanet 618 TPD-103KSR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-103W79 Hirschsprung disease LB16.1 Orphanet 388 TPD-103W79 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-103W79 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-104HKF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-1073U5 Kennedy disease 8B61.4 Orphanet 481 TPD-1073U5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1073U5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1073U5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-10A7QG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-10A7QG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-10EUHT Kennedy disease 8B61.4 Orphanet 481 TPD-10EUHT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-10EUHT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-10EUHT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-10FQ4Q Noonan syndrome LD2F.15 Orphanet 648 TPD-10FQ4Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-10FQ4Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-10FQ4Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-10FQ4Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-10FQ4Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-10FQ4Q Lynch syndrome 2B90.Y Orphanet 144 TPD-10FQ4Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-10FQ4Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-10FXBH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-10LYGC Noonan syndrome LD2F.15 Orphanet 648 TPD-10LYGC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-10LYGC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-10LYGC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-10LYGC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-10LYGC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-10LYGC Lynch syndrome 2B90.Y Orphanet 144 TPD-10LYGC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-10LYGC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-10MOD9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-10OCUO Familial melanoma QC61.Y Orphanet 618 TPD-10OCUO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-10S2N3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-10S2N3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-10S2N3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-10S7GO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-10S7GO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-10S7GO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-10UNQ7 Kennedy disease 8B61.4 Orphanet 481 TPD-10UNQ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-10UNQ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-10UNQ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-10V37Y Noonan syndrome LD2F.15 Orphanet 648 TPD-10V37Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-10V37Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-10V37Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-10V37Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-10V37Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-10V37Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-10V37Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-10V37Y Craniopharyngioma 2F9A Orphanet 54595 TPD-10V37Y Cushing disease 5A70.0 Orphanet 96253 TPD-10VPXB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-10VPXB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-10VPXB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-10VPXB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-11116F Kennedy disease 8B61.4 Orphanet 481 TPD-11116F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-11116F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-11116F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-115CK4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1167BF Familial melanoma QC61.Y Orphanet 618 TPD-1167BF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-11B5ZV Kennedy disease 8B61.4 Orphanet 481 TPD-11B5ZV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-11B5ZV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-11B5ZV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-11BUCJ Noonan syndrome LD2F.15 Orphanet 648 TPD-11BUCJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-11BUCJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-11BUCJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-11BUCJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-11BUCJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-11BUCJ Lynch syndrome 2B90.Y Orphanet 144 TPD-11BUCJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-11BUCJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-11DHEG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-11FBF6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-11FBF6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-11HEXM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-11HEXM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-11HEXM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-11HEXM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-11NTCP Kennedy disease 8B61.4 Orphanet 481 TPD-11NTCP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-11NTCP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-11NTCP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-11O8R4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-11VRPW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-11WEZG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-11WEZG Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-11WEZG Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-11WEZG Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-11WEZG Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-11WEZG Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-11WEZG Semantic dementia 6D83 Orphanet 100069 TPD-11WEZG Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-11YE33 Kennedy disease 8B61.4 Orphanet 481 TPD-11YE33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-11YE33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-11YE33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-122814 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-122814 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-122814 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-127W1V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-12B1MY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-12B1MY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-12B1MY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-12B1MY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-12C0L8 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-12C0L8 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-12DODG Kennedy disease 8B61.4 Orphanet 481 TPD-12DODG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-12DODG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-12DODG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-12FBZX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-12FBZX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-12FJYJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-12FJYJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-12G339 Noonan syndrome LD2F.15 Orphanet 648 TPD-12G339 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-12G339 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-12G339 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-12G339 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-12G339 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-12G339 Lynch syndrome 2B90.Y Orphanet 144 TPD-12G339 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-12G339 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-12HLN7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-12HLN7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-12IKBU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-12IKBU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-12IWBC Kennedy disease 8B61.4 Orphanet 481 TPD-12IWBC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-12IWBC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-12IWBC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-12JXK4 Noonan syndrome LD2F.15 Orphanet 648 TPD-12JXK4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-12JXK4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-12JXK4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-12JXK4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-12JXK4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-12JXK4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-12JXK4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-12JXK4 Craniopharyngioma 2F9A Orphanet 54595 TPD-12JXK4 Cushing disease 5A70.0 Orphanet 96253 TPD-12QFBG Kennedy disease 8B61.4 Orphanet 481 TPD-12QFBG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-12QFBG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-12QFBG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-12RJJ7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-12TDLD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-12TDLD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-12WPAM Noonan syndrome LD2F.15 Orphanet 648 TPD-12WPAM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-12WPAM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-12WPAM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-12WPAM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-12WPAM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-12WPAM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-12WPAM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-12WPAM Craniopharyngioma 2F9A Orphanet 54595 TPD-12WPAM Cushing disease 5A70.0 Orphanet 96253 TPD-12XSFK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-12XSFK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-12XSFK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-12XU93 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-12YBZM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1305FW Noonan syndrome LD2F.15 Orphanet 648 TPD-1305FW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1305FW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1305FW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1305FW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1305FW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1305FW Lynch syndrome 2B90.Y Orphanet 144 TPD-1305FW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1305FW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-133SKS Noonan syndrome LD2F.15 Orphanet 648 TPD-133SKS Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-135J47 Familial melanoma QC61.Y Orphanet 618 TPD-135J47 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-137929 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-137929 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-137I7K Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-13IEQU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-13IK4R Kennedy disease 8B61.4 Orphanet 481 TPD-13IK4R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-13IK4R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-13IK4R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-13K5XL Familial melanoma QC61.Y Orphanet 618 TPD-13K5XL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-13LFPZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-13LFPZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-13LFPZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-13LFPZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-13LFPZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-13LFPZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-13LFPZ Semantic dementia 6D83 Orphanet 100069 TPD-13LFPZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-13R7PL Noonan syndrome LD2F.15 Orphanet 648 TPD-13R7PL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-13R7PL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-13R7PL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-13R7PL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-13R7PL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-13R7PL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-13R7PL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-13R7PL Craniopharyngioma 2F9A Orphanet 54595 TPD-13R7PL Cushing disease 5A70.0 Orphanet 96253 TPD-13VO8W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-13VO8W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-13X1B9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-13XH1V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-143S15 Noonan syndrome LD2F.15 Orphanet 648 TPD-143S15 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-143S15 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-143S15 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-143S15 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-143S15 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-143S15 Lynch syndrome 2B90.Y Orphanet 144 TPD-143S15 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-143S15 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-144JMZ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-144JMZ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-144JMZ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-144JMZ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-144JMZ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-144JMZ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-144JMZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-144JMZ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-144JMZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-1457FT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1457FT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1469V0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-146A32 Kennedy disease 8B61.4 Orphanet 481 TPD-146A32 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-146A32 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-146A32 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-147HEP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-147HEP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-14ANO9 Kennedy disease 8B61.4 Orphanet 481 TPD-14ANO9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-14ANO9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-14ANO9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-14D2NC Kennedy disease 8B61.4 Orphanet 481 TPD-14D2NC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-14D2NC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-14D2NC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-14DIFA Weaver syndrome LD2C Orphanet 3447 TPD-14GXP8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-14GXP8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-14GXP8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-14HU8V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-14HU8V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-14HU8V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-14WLMV Noonan syndrome LD2F.15 Orphanet 648 TPD-14WLMV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-14WLMV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-14WLMV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-14WLMV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-14WLMV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-14WLMV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-14WLMV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-14WLMV Craniopharyngioma 2F9A Orphanet 54595 TPD-14WLMV Cushing disease 5A70.0 Orphanet 96253 TPD-14ZFQ7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-14ZFQ7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-14ZFQ7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-14ZFQ7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-14ZU0Q Noonan syndrome LD2F.15 Orphanet 648 TPD-14ZU0Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-14ZU0Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-14ZU0Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-14ZU0Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-14ZU0Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-14ZU0Q Lynch syndrome 2B90.Y Orphanet 144 TPD-14ZU0Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-14ZU0Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-151O2G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-155KW7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-155KW7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1564WG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1564WG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-15GBAG Noonan syndrome LD2F.15 Orphanet 648 TPD-15GBAG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-15GBAG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-15GBAG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-15GBAG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-15GBAG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-15GBAG Lynch syndrome 2B90.Y Orphanet 144 TPD-15GBAG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-15GBAG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-15JPCR Kennedy disease 8B61.4 Orphanet 481 TPD-15JPCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-15JPCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-15JPCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-15M7HN Kennedy disease 8B61.4 Orphanet 481 TPD-15M7HN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-15M7HN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-15M7HN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-15NHIB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-15NHIB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-15O6M1 Noonan syndrome LD2F.15 Orphanet 648 TPD-15O6M1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-15O6M1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-15O6M1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-15O6M1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-15O6M1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-15O6M1 Lynch syndrome 2B90.Y Orphanet 144 TPD-15O6M1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-15O6M1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-15T28H Noonan syndrome LD2F.15 Orphanet 648 TPD-15T28H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-15T28H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-15T28H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-15T28H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-15T28H Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-15T28H Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-15T28H Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-15T28H Craniopharyngioma 2F9A Orphanet 54595 TPD-15T28H Cushing disease 5A70.0 Orphanet 96253 TPD-15T5CB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-15T5CB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-15T5CB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-15T5CB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-15TCDB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-15TCDB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-15TCDB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-15TCDB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-15U9MC Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-15U9MC Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-15U9MC Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-15U9MC Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-15U9MC Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-15U9MC Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-15U9MC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-15U9MC Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-15U9MC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-15VUP4 Kennedy disease 8B61.4 Orphanet 481 TPD-15VUP4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-15VUP4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-15VUP4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-15WWFF Kennedy disease 8B61.4 Orphanet 481 TPD-15WWFF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-15WWFF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-15WWFF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-15ZEGH Kennedy disease 8B61.4 Orphanet 481 TPD-15ZEGH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-15ZEGH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-15ZEGH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-15ZHA9 Noonan syndrome LD2F.15 Orphanet 648 TPD-15ZHA9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-15ZHA9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-15ZHA9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-15ZHA9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-15ZHA9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-15ZHA9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-15ZHA9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-15ZHA9 Craniopharyngioma 2F9A Orphanet 54595 TPD-15ZHA9 Cushing disease 5A70.0 Orphanet 96253 TPD-15ZS5C Noonan syndrome LD2F.15 Orphanet 648 TPD-15ZS5C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-15ZS5C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-15ZS5C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-15ZS5C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-15ZS5C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-15ZS5C Lynch syndrome 2B90.Y Orphanet 144 TPD-15ZS5C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-15ZS5C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1616AB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-161JWY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-161JWY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-161M4N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-161M4N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-161M4N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-161M4N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-162183 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-162183 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-165ONM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-165SZR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-167EHM Noonan syndrome LD2F.15 Orphanet 648 TPD-167EHM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-167EHM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-167EHM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-167EHM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-167EHM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-167EHM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-167EHM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-167EHM Craniopharyngioma 2F9A Orphanet 54595 TPD-167EHM Cushing disease 5A70.0 Orphanet 96253 TPD-169M2W Weaver syndrome LD2C Orphanet 3447 TPD-16ALZJ Kennedy disease 8B61.4 Orphanet 481 TPD-16ALZJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-16ALZJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-16ALZJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-16CLT8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-16CLT8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-16G5IO Noonan syndrome LD2F.15 Orphanet 648 TPD-16G5IO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-16G5IO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16G5IO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-16G5IO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16G5IO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-16G5IO Lynch syndrome 2B90.Y Orphanet 144 TPD-16G5IO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-16G5IO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-16LV14 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-16NFX6 Noonan syndrome LD2F.15 Orphanet 648 TPD-16NFX6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-16NFX6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16NFX6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-16NFX6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16NFX6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-16NFX6 Lynch syndrome 2B90.Y Orphanet 144 TPD-16NFX6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-16NFX6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-16NHP5 Noonan syndrome LD2F.15 Orphanet 648 TPD-16NHP5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-16NHP5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-16NHP5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16NHP5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16NHP5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-16NHP5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-16NHP5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-16NHP5 Craniopharyngioma 2F9A Orphanet 54595 TPD-16NHP5 Cushing disease 5A70.0 Orphanet 96253 TPD-16QJUH Kennedy disease 8B61.4 Orphanet 481 TPD-16QJUH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-16QJUH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-16QJUH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-16QQVW Familial melanoma QC61.Y Orphanet 618 TPD-16QQVW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-16RAKZ Noonan syndrome LD2F.15 Orphanet 648 TPD-16RAKZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-16RAKZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16RAKZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-16RAKZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16RAKZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-16RAKZ Lynch syndrome 2B90.Y Orphanet 144 TPD-16RAKZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-16RAKZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-16SIKY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-16SIKY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-16SJ4L Noonan syndrome LD2F.15 Orphanet 648 TPD-16SJ4L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-16SJ4L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16SJ4L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-16SJ4L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16SJ4L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-16SJ4L Lynch syndrome 2B90.Y Orphanet 144 TPD-16SJ4L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-16SJ4L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-16T9CT Kennedy disease 8B61.4 Orphanet 481 TPD-16T9CT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-16T9CT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-16T9CT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-16TTW6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-16TTW6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-16UOBC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-16UOBC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-16VL16 Noonan syndrome LD2F.15 Orphanet 648 TPD-16VL16 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-16VL16 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-16VL16 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-16VL16 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-16VL16 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-16VL16 Lynch syndrome 2B90.Y Orphanet 144 TPD-16VL16 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-16VL16 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-16W1SL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-16Y1W8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-16Y1W8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-16Y1W8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-16Y7T4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-177M1F Kennedy disease 8B61.4 Orphanet 481 TPD-177M1F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-177M1F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-177M1F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-17ATKP Noonan syndrome LD2F.15 Orphanet 648 TPD-17ATKP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-17ATKP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-17ATKP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-17ATKP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-17ATKP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-17ATKP Lynch syndrome 2B90.Y Orphanet 144 TPD-17ATKP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-17ATKP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-17ATXA Familial melanoma QC61.Y Orphanet 618 TPD-17ATXA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-17AWXI Kennedy disease 8B61.4 Orphanet 481 TPD-17AWXI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-17AWXI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-17AWXI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-17B9F9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-17B9F9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-17B9F9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-17BBJ5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-17C4OW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-17G75I Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-17G75I Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-17GLWD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-17J5GA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-17KNTK Kennedy disease 8B61.4 Orphanet 481 TPD-17KNTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-17KNTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-17KNTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-17PDWZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-17PDWZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-17UFIF Noonan syndrome LD2F.15 Orphanet 648 TPD-17UFIF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-17UFIF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-17UFIF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-17UFIF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-17UFIF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-17UFIF Lynch syndrome 2B90.Y Orphanet 144 TPD-17UFIF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-17UFIF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-17ZY6D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-17ZY6D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-17ZY6D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-17ZY6D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-180R4X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-180R4X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-180R4X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-180S5S Kennedy disease 8B61.4 Orphanet 481 TPD-180S5S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-180S5S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-180S5S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1816HA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1816HA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-183CAB Familial melanoma QC61.Y Orphanet 618 TPD-183QCO Noonan syndrome LD2F.15 Orphanet 648 TPD-183QCO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-183QCO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-183QCO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-183QCO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-183QCO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-183QCO Lynch syndrome 2B90.Y Orphanet 144 TPD-183QCO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-183QCO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-184NCX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-184NCX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-188W6P Weaver syndrome LD2C Orphanet 3447 TPD-189WOS Familial melanoma QC61.Y Orphanet 618 TPD-189WOS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-18BZFY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-18BZFY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-18BZFY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-18D0LM Familial melanoma QC61.Y Orphanet 618 TPD-18D0LM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-18DYWS Congenital fibrosis of extraocular muscles 9C82.2 Orphanet 45358 TPD-18F8A7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-18F8A7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-18F8A7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-18HX9Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-18HX9Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-18JPBZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-18JPBZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-18KO0X Noonan syndrome LD2F.15 Orphanet 648 TPD-18KO0X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-18KO0X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-18KO0X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-18KO0X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-18KO0X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-18KO0X Lynch syndrome 2B90.Y Orphanet 144 TPD-18KO0X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-18KO0X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-18OLFO Achondroplasia LD24.00 Orphanet 15 TPD-18OLFO Hypochondroplasia LD24.01 Orphanet 429 TPD-18OLFO Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-18OLFO Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-18OLFO Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-18OLFO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-18OLFO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-18OLFO Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-18OLFO Muenke syndrome LD24.GY Orphanet 53271 TPD-18OLFO Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-18OLFO Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-18OLFO Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-18OLIV Noonan syndrome LD2F.15 Orphanet 648 TPD-18OLIV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-18OLIV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-18OLIV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-18OLIV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-18OLIV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-18OLIV Lynch syndrome 2B90.Y Orphanet 144 TPD-18OLIV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-18OLIV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-18PNIG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-18PNIG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-18PNIG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-18PNIG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-18WB1B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-18X2TX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-18YTM1 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-18YTM1 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-18YTM1 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-197S4M Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-199BJK Noonan syndrome LD2F.15 Orphanet 648 TPD-199BJK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-199BJK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-199BJK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-199BJK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-199BJK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-199BJK Lynch syndrome 2B90.Y Orphanet 144 TPD-199BJK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-199BJK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-199QXX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-19B2OB Kennedy disease 8B61.4 Orphanet 481 TPD-19B2OB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-19B2OB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-19B2OB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-19IDFY Weaver syndrome LD2C Orphanet 3447 TPD-19MYS5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-19MYS5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-19MYS5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-19MYS5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-19NE64 Kennedy disease 8B61.4 Orphanet 481 TPD-19NE64 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-19NE64 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-19NE64 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-19NTZZ Noonan syndrome LD2F.15 Orphanet 648 TPD-19NTZZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-19NTZZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-19NTZZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-19NTZZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-19NTZZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-19NTZZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-19NTZZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-19NTZZ Craniopharyngioma 2F9A Orphanet 54595 TPD-19NTZZ Cushing disease 5A70.0 Orphanet 96253 TPD-19P7BA Familial melanoma QC61.Y Orphanet 618 TPD-19P7BA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-19Q570 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-19Q570 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-19RGLB Noonan syndrome LD2F.15 Orphanet 648 TPD-19RGLB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-19RGLB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-19RGLB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-19RGLB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-19RGLB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-19RGLB Lynch syndrome 2B90.Y Orphanet 144 TPD-19RGLB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-19RGLB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-19U6OK Kennedy disease 8B61.4 Orphanet 481 TPD-19U6OK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-19U6OK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-19U6OK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-19U9KU Kennedy disease 8B61.4 Orphanet 481 TPD-19U9KU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-19U9KU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-19U9KU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-19X5F4 Noonan syndrome LD2F.15 Orphanet 648 TPD-19X5F4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-19X5F4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-19X5F4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-19X5F4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-19X5F4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-19X5F4 Lynch syndrome 2B90.Y Orphanet 144 TPD-19X5F4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-19X5F4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-19Y3L9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-19ZITK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1A34AB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1A6H38 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1A6H38 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1A6H38 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1A8PU2 Noonan syndrome LD2F.15 Orphanet 648 TPD-1A8PU2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1A8PU2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1A8PU2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1A8PU2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1A8PU2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1A8PU2 Lynch syndrome 2B90.Y Orphanet 144 TPD-1A8PU2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1A8PU2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1AC2YG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1AC2YG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1AFY66 Kennedy disease 8B61.4 Orphanet 481 TPD-1AFY66 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1AFY66 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1AFY66 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1AGN0W Kennedy disease 8B61.4 Orphanet 481 TPD-1AGN0W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1AGN0W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1AGN0W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1AGPFZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1AGPFZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1AGPFZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1AGPFZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1AK9VN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1AO5O4 Weaver syndrome LD2C Orphanet 3447 TPD-1AQSVN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1ARME7 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-1ARME7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-1AVXSD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1AVXSD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1AVXSD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1AYRHD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1AYRHD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1AYRHD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1AYRQ9 Familial melanoma QC61.Y Orphanet 618 TPD-1AYRQ9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1B0JIE Noonan syndrome LD2F.15 Orphanet 648 TPD-1B0JIE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1B0JIE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1B0JIE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1B0JIE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1B0JIE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1B0JIE Lynch syndrome 2B90.Y Orphanet 144 TPD-1B0JIE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1B0JIE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1B1CER Noonan syndrome LD2F.15 Orphanet 648 TPD-1B1CER Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1B1CER Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1B1CER Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1B1CER Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1B1CER Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1B1CER Lynch syndrome 2B90.Y Orphanet 144 TPD-1B1CER Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1B1CER Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1B4XB6 Kennedy disease 8B61.4 Orphanet 481 TPD-1B4XB6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1B4XB6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1B4XB6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1BF68Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1BITNL Noonan syndrome LD2F.15 Orphanet 648 TPD-1BITNL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1BITNL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1BITNL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1BITNL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1BITNL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1BITNL Lynch syndrome 2B90.Y Orphanet 144 TPD-1BITNL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1BITNL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1BLT58 Kennedy disease 8B61.4 Orphanet 481 TPD-1BLT58 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1BLT58 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1BLT58 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1BN8YW Kennedy disease 8B61.4 Orphanet 481 TPD-1BN8YW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1BN8YW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1BN8YW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1BSXY0 Weaver syndrome LD2C Orphanet 3447 TPD-1BT06C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1BT06C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1BT06C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1BTTZP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1BTTZP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1BWN2S Kennedy disease 8B61.4 Orphanet 481 TPD-1BWN2S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1BWN2S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1BWN2S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1BYTS4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1BYTS4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1BYTS4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1BZUFT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1BZUFT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1C11XD Kennedy disease 8B61.4 Orphanet 481 TPD-1C11XD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1C11XD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1C11XD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1C2WMD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1C2WMD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1C2WMD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1C67WC Kennedy disease 8B61.4 Orphanet 481 TPD-1C67WC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1C67WC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1C67WC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1C78YV Noonan syndrome LD2F.15 Orphanet 648 TPD-1C78YV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1C78YV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1C78YV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1C78YV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1C78YV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1C78YV Lynch syndrome 2B90.Y Orphanet 144 TPD-1C78YV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1C78YV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1CAHL3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1CAHL3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1CESCZ Familial melanoma QC61.Y Orphanet 618 TPD-1CESCZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1CIZZZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1CIZZZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1CIZZZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1CMPKV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1CMPKV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1CRMN5 Kennedy disease 8B61.4 Orphanet 481 TPD-1CRMN5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1CRMN5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1CRMN5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1CSJEI Kennedy disease 8B61.4 Orphanet 481 TPD-1CSJEI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1CSJEI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1CSJEI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1CSJHT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1CSJHT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1CX2JH Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-1D0QPD Kennedy disease 8B61.4 Orphanet 481 TPD-1D0QPD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1D0QPD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1D0QPD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1D1VRO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1D1VRO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1D2ELF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1D2ELF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1D2ELF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1D2ELF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1D3NQX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1D4MML X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1D4MML Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1D4UX0 Noonan syndrome LD2F.15 Orphanet 648 TPD-1D4UX0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1D4UX0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1D4UX0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1D4UX0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1D4UX0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1D4UX0 Lynch syndrome 2B90.Y Orphanet 144 TPD-1D4UX0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1D4UX0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1D4YYZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1D4YYZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1D64R9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1D64R9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1D64R9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1D9K92 Familial melanoma QC61.Y Orphanet 618 TPD-1D9K92 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1D9X6D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1D9X6D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1DA9ML Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1DA9ML Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1DA9ML Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1DE2PO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1DE2PO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1DE2PO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1DG02I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1DGUP1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1DGUP1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1DGUP1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1DH8ST X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1DH8ST Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1DHMSR Noonan syndrome LD2F.15 Orphanet 648 TPD-1DHMSR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1DHMSR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1DHMSR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1DHMSR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1DHMSR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1DHMSR Lynch syndrome 2B90.Y Orphanet 144 TPD-1DHMSR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1DHMSR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1DILKU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1DILKU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1DILKU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1DILKU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1DIW1Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1DLQU0 Noonan syndrome LD2F.15 Orphanet 648 TPD-1DLQU0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1DLQU0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1DLQU0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1DLQU0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1DLQU0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1DLQU0 Lynch syndrome 2B90.Y Orphanet 144 TPD-1DLQU0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1DLQU0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1DML3E Noonan syndrome LD2F.15 Orphanet 648 TPD-1DML3E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1DML3E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1DML3E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1DML3E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1DML3E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1DML3E Lynch syndrome 2B90.Y Orphanet 144 TPD-1DML3E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1DML3E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1DSJ5I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1DSJ5I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1DSJ5I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1DSJ5I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1DSRIS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1DSRIS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1DTX9E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1DTX9E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1DZVVP Noonan syndrome LD2F.15 Orphanet 648 TPD-1DZVVP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1DZVVP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1DZVVP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1DZVVP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1DZVVP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1DZVVP Lynch syndrome 2B90.Y Orphanet 144 TPD-1DZVVP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1DZVVP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1E1MMM Noonan syndrome LD2F.15 Orphanet 648 TPD-1E1MMM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1E1MMM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1E1MMM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1E1MMM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1E1MMM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1E1MMM Lynch syndrome 2B90.Y Orphanet 144 TPD-1E1MMM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1E1MMM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1E2FDG Kennedy disease 8B61.4 Orphanet 481 TPD-1E2FDG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1E2FDG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1E2FDG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1E53JD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1E53JD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1E5A3R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1E5A3R Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1E6S88 Familial melanoma QC61.Y Orphanet 618 TPD-1E6S88 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1E917X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1EA7I4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1EA7I4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1EBXSK Kennedy disease 8B61.4 Orphanet 481 TPD-1EBXSK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1EBXSK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1EBXSK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1EFE29 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1EFE29 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1EFE29 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1EFE29 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1EG22O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1EG22O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1EG22O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1EL1DC Noonan syndrome LD2F.15 Orphanet 648 TPD-1EL1DC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1EL1DC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1EL1DC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1EL1DC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1EL1DC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1EL1DC Lynch syndrome 2B90.Y Orphanet 144 TPD-1EL1DC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1EL1DC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1EM6OB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1EMXY9 Noonan syndrome LD2F.15 Orphanet 648 TPD-1EMXY9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1EMXY9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1EMXY9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1EMXY9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1EMXY9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1EMXY9 Lynch syndrome 2B90.Y Orphanet 144 TPD-1EMXY9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1EMXY9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1ENR4H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1ENR4H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1EO693 Kennedy disease 8B61.4 Orphanet 481 TPD-1EO693 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1EO693 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1EO693 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1EPF22 Kennedy disease 8B61.4 Orphanet 481 TPD-1EPF22 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1EPF22 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1EPF22 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1EWCRY Kennedy disease 8B61.4 Orphanet 481 TPD-1EWCRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1EWCRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1EWCRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1EY8OA Kennedy disease 8B61.4 Orphanet 481 TPD-1EY8OA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1EY8OA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1EY8OA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1F3HW0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1F3SIK Kennedy disease 8B61.4 Orphanet 481 TPD-1F3SIK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1F3SIK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1F3SIK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1F3SOL Familial melanoma QC61.Y Orphanet 618 TPD-1F3SOL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1F4CUS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1F4CUS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1F4CUS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1F4CUS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1F4P3A Kennedy disease 8B61.4 Orphanet 481 TPD-1F4P3A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1F4P3A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1F4P3A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1F59H5 Noonan syndrome LD2F.15 Orphanet 648 TPD-1F59H5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1F59H5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1F59H5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1F59H5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1F59H5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1F59H5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1F59H5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1F59H5 Craniopharyngioma 2F9A Orphanet 54595 TPD-1F59H5 Cushing disease 5A70.0 Orphanet 96253 TPD-1F5GZ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1F5GZ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1F5GZ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1F7OPB Kennedy disease 8B61.4 Orphanet 481 TPD-1F7OPB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1F7OPB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1F7OPB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1F7S3W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1F7S3W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1F7S3W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1F7S3W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1F8KZI Kennedy disease 8B61.4 Orphanet 481 TPD-1F8KZI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1F8KZI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1F8KZI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1F9VQT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1F9VQT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1FCU05 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1FCU05 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1FE4SQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1FE4SQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1FE4SQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1FE4SQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1FHHTV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1FHHTV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1FIRBF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-1FJTNN Familial melanoma QC61.Y Orphanet 618 TPD-1FJTNN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1FKQ73 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1FLQU6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1FLQU6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1FLQU6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1FN76H Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-1FN76H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1FN76H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1FN76H Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-1FN76H Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-1FN76H Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-1FN76H Osteosarcoma 2B51 Orphanet 668 TPD-1FN76H Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-1FN76H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1FN76H Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1FN76H Small cell lung cancer 2C25.1 Orphanet 70573 TPD-1FN76H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1FN76H Cushing disease 5A70.0 Orphanet 96253 TPD-1FN76H Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-1FN76H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1FNR7X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1FNR7X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1FNR7X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1FP2DJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1FQJ6L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1FQJ6L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1FQJ6L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1FQJ6L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1FT2G6 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-1FT2G6 CINCA syndrome 4A60.1 Orphanet 1451 TPD-1FT2G6 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-1FVWDB Weaver syndrome LD2C Orphanet 3447 TPD-1FZBET Kennedy disease 8B61.4 Orphanet 481 TPD-1FZBET Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1FZBET Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1FZBET Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1G1UTL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1G1UTL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1G1UTL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1G1UTL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1G1UYQ Kennedy disease 8B61.4 Orphanet 481 TPD-1G1UYQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1G1UYQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1G1UYQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1G5JEE Noonan syndrome LD2F.15 Orphanet 648 TPD-1G5JEE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1G5JEE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1G5JEE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1G5JEE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1G5JEE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1G5JEE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1G5JEE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1G5JEE Craniopharyngioma 2F9A Orphanet 54595 TPD-1G5JEE Cushing disease 5A70.0 Orphanet 96253 TPD-1G7CZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-1G7CZ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1G7CZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1G7CZ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1G7CZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1G7CZ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1G7CZ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-1G7CZ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1G7CZ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1GA5CJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1GA5CJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1GEWS1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1GEWS1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1GEWS1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1GHAH7 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1GHAH7 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1GIYD4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1GLBF9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1GLBF9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1GLBF9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1GLR47 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1GOEZI Kennedy disease 8B61.4 Orphanet 481 TPD-1GOEZI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1GOEZI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1GOEZI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1GOYGG Noonan syndrome LD2F.15 Orphanet 648 TPD-1GOYGG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1GOYGG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1GOYGG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1GOYGG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1GOYGG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1GOYGG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1GOYGG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1GOYGG Craniopharyngioma 2F9A Orphanet 54595 TPD-1GOYGG Cushing disease 5A70.0 Orphanet 96253 TPD-1GP5MF Kennedy disease 8B61.4 Orphanet 481 TPD-1GP5MF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1GP5MF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1GP5MF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1GQCCF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1GTFT6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1GTFT6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1GTFT6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1GTFT6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1GTFT6 Neuroblastoma 2A00.11 Orphanet 635 TPD-1GTFT6 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-1GTFT6 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-1GTFT6 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-1GTFT6 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-1GUIKN Noonan syndrome LD2F.15 Orphanet 648 TPD-1GUIKN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1GUIKN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1GUIKN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1GUIKN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1GUIKN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1GUIKN Lynch syndrome 2B90.Y Orphanet 144 TPD-1GUIKN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1GUIKN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1GVCLR Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-1HAI5J Noonan syndrome LD2F.15 Orphanet 648 TPD-1HAI5J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1HAI5J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1HAI5J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1HAI5J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1HAI5J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1HAI5J Lynch syndrome 2B90.Y Orphanet 144 TPD-1HAI5J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1HAI5J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1HBTT7 Kennedy disease 8B61.4 Orphanet 481 TPD-1HBTT7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1HBTT7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1HBTT7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1HEXBC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1HGRQR Noonan syndrome LD2F.15 Orphanet 648 TPD-1HGRQR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1HGRQR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1HGRQR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1HGRQR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1HGRQR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1HGRQR Lynch syndrome 2B90.Y Orphanet 144 TPD-1HGRQR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1HGRQR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1HH5J5 Familial melanoma QC61.Y Orphanet 618 TPD-1HH5J5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1HK9MM Noonan syndrome LD2F.15 Orphanet 648 TPD-1HK9MM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1HK9MM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1HK9MM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1HK9MM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1HK9MM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1HK9MM Lynch syndrome 2B90.Y Orphanet 144 TPD-1HK9MM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1HK9MM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1HKY9T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1HKY9T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1HM5XI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1HPEBX Noonan syndrome LD2F.15 Orphanet 648 TPD-1HPEBX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1HPEBX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1HPEBX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1HPEBX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1HPEBX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1HPEBX Lynch syndrome 2B90.Y Orphanet 144 TPD-1HPEBX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1HPEBX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1HQU3F Familial melanoma QC61.Y Orphanet 618 TPD-1HQU3F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1HX483 Kennedy disease 8B61.4 Orphanet 481 TPD-1HX483 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1HX483 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1HX483 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1HZYBC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1HZYBC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1I0RT9 Familial melanoma QC61.Y Orphanet 618 TPD-1I0RT9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1I4009 Familial melanoma QC61.Y Orphanet 618 TPD-1I4009 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1I70JU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1I70JU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1I70JU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1I7RFO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1I7RFO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1I7RFO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1I7RFO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1IAILF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1IAILF Neuroblastoma 2A00.11 Orphanet 635 TPD-1IAILF Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-1IAILF ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-1IAILF ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-1IBT9K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1IBT9K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1IBT9K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1IBT9K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1ID2ZA Noonan syndrome LD2F.15 Orphanet 648 TPD-1ID2ZA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1ID2ZA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1ID2ZA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1ID2ZA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1ID2ZA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1ID2ZA Lynch syndrome 2B90.Y Orphanet 144 TPD-1ID2ZA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1ID2ZA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1IEJW6 Familial melanoma QC61.Y Orphanet 618 TPD-1IEJW6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1IHJF2 Noonan syndrome LD2F.15 Orphanet 648 TPD-1IHJF2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1IHJF2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1IHJF2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1IHJF2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1IHJF2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1IHJF2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1IHJF2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1IHJF2 Craniopharyngioma 2F9A Orphanet 54595 TPD-1IHJF2 Cushing disease 5A70.0 Orphanet 96253 TPD-1II0JK Noonan syndrome LD2F.15 Orphanet 648 TPD-1II0JK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1II0JK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1II0JK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1II0JK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1II0JK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1II0JK Lynch syndrome 2B90.Y Orphanet 144 TPD-1II0JK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1II0JK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1II7LK Noonan syndrome LD2F.15 Orphanet 648 TPD-1II7LK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1II7LK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1II7LK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1II7LK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1II7LK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1II7LK Lynch syndrome 2B90.Y Orphanet 144 TPD-1II7LK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1II7LK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1IKC7N Noonan syndrome LD2F.15 Orphanet 648 TPD-1IKC7N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1IKC7N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1IKC7N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1IKC7N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1IKC7N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1IKC7N Lynch syndrome 2B90.Y Orphanet 144 TPD-1IKC7N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1IKC7N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1IM09Z Kennedy disease 8B61.4 Orphanet 481 TPD-1IM09Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1IM09Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1IM09Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1IMV9C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1IMV9C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1INH4U Noonan syndrome LD2F.15 Orphanet 648 TPD-1INH4U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1INH4U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1INH4U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1INH4U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1INH4U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1INH4U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1INH4U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1INH4U Craniopharyngioma 2F9A Orphanet 54595 TPD-1INH4U Cushing disease 5A70.0 Orphanet 96253 TPD-1IOKKZ Noonan syndrome LD2F.15 Orphanet 648 TPD-1IOKKZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1IOKKZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1IOKKZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1IOKKZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1IOKKZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1IOKKZ Lynch syndrome 2B90.Y Orphanet 144 TPD-1IOKKZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1IOKKZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1IROYG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1IROYG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1IT9WF Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-1IVPUD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1IVPUD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1IVPUD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1IVPUD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1IWVZ6 Kennedy disease 8B61.4 Orphanet 481 TPD-1IWVZ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1IWVZ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1IWVZ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1IZ68B Kennedy disease 8B61.4 Orphanet 481 TPD-1IZ68B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1IZ68B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1IZ68B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1J5UQ9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1J6ML7 Kennedy disease 8B61.4 Orphanet 481 TPD-1J6ML7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1J6ML7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1J6ML7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1J6PCM Kennedy disease 8B61.4 Orphanet 481 TPD-1J6PCM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1J6PCM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1J6PCM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1J7NNI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1J7NNI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-1J7NNI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-1J7NNI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-1J7NNI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-1J7NNI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-1J7NNI Semantic dementia 6D83 Orphanet 100069 TPD-1J7NNI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-1JBG51 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1JBG51 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1JBG51 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1JDCQE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1JH8OV Noonan syndrome LD2F.15 Orphanet 648 TPD-1JH8OV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1JH8OV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1JH8OV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1JH8OV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1JH8OV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1JH8OV Lynch syndrome 2B90.Y Orphanet 144 TPD-1JH8OV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1JH8OV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1JJKGC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1JJKGC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1JJKGC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1JMZE8 Kennedy disease 8B61.4 Orphanet 481 TPD-1JMZE8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1JMZE8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1JMZE8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1JOUH8 Noonan syndrome LD2F.15 Orphanet 648 TPD-1JOUH8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1JOUH8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1JOUH8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1JOUH8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1JOUH8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1JOUH8 Lynch syndrome 2B90.Y Orphanet 144 TPD-1JOUH8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1JOUH8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1JQ1TA Familial melanoma QC61.Y Orphanet 618 TPD-1JQ1TA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1JR1NR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1JR1NR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1JVJ2E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1JX74Q Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1JX74Q Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1JXXGU Familial melanoma QC61.Y Orphanet 618 TPD-1JZS7M Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1JZS7M Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1K1U33 Noonan syndrome LD2F.15 Orphanet 648 TPD-1K1U33 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1K1U33 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1K1U33 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1K1U33 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1K1U33 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1K1U33 Lynch syndrome 2B90.Y Orphanet 144 TPD-1K1U33 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1K1U33 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1K3IAD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1K3IAD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1K5TTP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1K5TTP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1K7VYN Noonan syndrome LD2F.15 Orphanet 648 TPD-1K7VYN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1K7VYN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1K7VYN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1K7VYN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1K7VYN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1K7VYN Lynch syndrome 2B90.Y Orphanet 144 TPD-1K7VYN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1K7VYN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1KAS4Y Kennedy disease 8B61.4 Orphanet 481 TPD-1KAS4Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1KAS4Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1KAS4Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1KCAN4 Noonan syndrome LD2F.15 Orphanet 648 TPD-1KCAN4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1KCAN4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1KCAN4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1KCAN4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1KCAN4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1KCAN4 Lynch syndrome 2B90.Y Orphanet 144 TPD-1KCAN4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1KCAN4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1KD55J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1KD55J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1KD55J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1KDSDW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1KDSDW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1KDSDW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1KDSDW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1KHX1C Familial melanoma QC61.Y Orphanet 618 TPD-1KI6KC Kennedy disease 8B61.4 Orphanet 481 TPD-1KI6KC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1KI6KC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1KI6KC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1KJIIL Noonan syndrome LD2F.15 Orphanet 648 TPD-1KJIIL Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-1KP6WV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1KP6WV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1KP6WV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1KP6WV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1KS36P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1KS36P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1KVSNH Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-1KWB55 Kennedy disease 8B61.4 Orphanet 481 TPD-1KWB55 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1KWB55 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1KWB55 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1KWEDG Noonan syndrome LD2F.15 Orphanet 648 TPD-1KWEDG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1KWEDG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1KWEDG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1KWEDG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1KWEDG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1KWEDG Lynch syndrome 2B90.Y Orphanet 144 TPD-1KWEDG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1KWEDG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1KX7QR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1KXZ1D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1KXZ1D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1KXZ1D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1KZP0Z Kennedy disease 8B61.4 Orphanet 481 TPD-1KZP0Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1KZP0Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1KZP0Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1L08OX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1L3TSB Noonan syndrome LD2F.15 Orphanet 648 TPD-1L3TSB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1L3TSB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1L3TSB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1L3TSB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1L3TSB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1L3TSB Lynch syndrome 2B90.Y Orphanet 144 TPD-1L3TSB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1L3TSB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1L5CB2 Noonan syndrome LD2F.15 Orphanet 648 TPD-1L5CB2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1L5CB2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1L5CB2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1L5CB2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1L5CB2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1L5CB2 Lynch syndrome 2B90.Y Orphanet 144 TPD-1L5CB2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1L5CB2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1LB4QO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1LB4QO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1LE0IL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1LE0IL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1LE0IL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1LFZFN Kennedy disease 8B61.4 Orphanet 481 TPD-1LFZFN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1LFZFN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1LFZFN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1LIXGL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1LIXGL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1LIXGL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1LIXGL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1LPD88 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1LPD88 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1LQTYU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1LQTYU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1LZY60 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1M1M28 Kennedy disease 8B61.4 Orphanet 481 TPD-1M1M28 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1M1M28 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1M1M28 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1M2C1L Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-1M439P Kennedy disease 8B61.4 Orphanet 481 TPD-1M439P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1M439P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1M439P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1M46GA Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-1M46GA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-1M4NP7 Noonan syndrome LD2F.15 Orphanet 648 TPD-1M4NP7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1M4NP7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1M4NP7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1M4NP7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1M4NP7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1M4NP7 Lynch syndrome 2B90.Y Orphanet 144 TPD-1M4NP7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1M4NP7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1M9RH4 Noonan syndrome LD2F.15 Orphanet 648 TPD-1M9RH4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1M9RH4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1M9RH4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1M9RH4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1M9RH4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1M9RH4 Lynch syndrome 2B90.Y Orphanet 144 TPD-1M9RH4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1M9RH4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1MBQPD Burkitt lymphoma XH4KA9 Orphanet 543 TPD-1MBQPD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-1MBQPD Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-1MD3N7 Noonan syndrome LD2F.15 Orphanet 648 TPD-1MD3N7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1MD3N7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1MD3N7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1MD3N7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1MD3N7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1MD3N7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1MD3N7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1MD3N7 Craniopharyngioma 2F9A Orphanet 54595 TPD-1MD3N7 Cushing disease 5A70.0 Orphanet 96253 TPD-1MD5A2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1ME5VI Noonan syndrome LD2F.15 Orphanet 648 TPD-1ME5VI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1ME5VI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1ME5VI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1ME5VI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1ME5VI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1ME5VI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1ME5VI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1ME5VI Craniopharyngioma 2F9A Orphanet 54595 TPD-1ME5VI Cushing disease 5A70.0 Orphanet 96253 TPD-1MFS6Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1MFXJZ Noonan syndrome LD2F.15 Orphanet 648 TPD-1MFXJZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1MFXJZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1MFXJZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1MFXJZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1MFXJZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1MFXJZ Lynch syndrome 2B90.Y Orphanet 144 TPD-1MFXJZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1MFXJZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1MK62N Noonan syndrome LD2F.15 Orphanet 648 TPD-1MK62N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1MK62N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1MK62N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1MK62N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1MK62N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1MK62N Lynch syndrome 2B90.Y Orphanet 144 TPD-1MK62N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1MK62N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1MQD3N MODY 5A13.6 Orphanet 552 TPD-1MQD3N Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-1MQXEP Noonan syndrome LD2F.15 Orphanet 648 TPD-1MQXEP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1MQXEP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1MQXEP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1MQXEP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1MQXEP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1MQXEP Lynch syndrome 2B90.Y Orphanet 144 TPD-1MQXEP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1MQXEP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1MSR2N Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-1MSR2N Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-1MSR2N Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-1MU00J Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1MU00J Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-1MU00J Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-1MU00J Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-1MU00J Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-1MU00J Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-1MU00J Semantic dementia 6D83 Orphanet 100069 TPD-1MU00J Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-1MWE5Y Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-1MWE5Y Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-1MWE5Y Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-1MY02W Noonan syndrome LD2F.15 Orphanet 648 TPD-1MY02W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1MY02W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1MY02W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1MY02W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1MY02W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1MY02W Lynch syndrome 2B90.Y Orphanet 144 TPD-1MY02W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1MY02W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1N19AC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1N2R6J Kennedy disease 8B61.4 Orphanet 481 TPD-1N2R6J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1N2R6J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1N2R6J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1N8XOW Kennedy disease 8B61.4 Orphanet 481 TPD-1N8XOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1N8XOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1N8XOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1N93PU Kennedy disease 8B61.4 Orphanet 481 TPD-1N93PU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1N93PU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1N93PU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1N9N7F Kennedy disease 8B61.4 Orphanet 481 TPD-1N9N7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1N9N7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1N9N7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1NC7S1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1NDQ9D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1NDQ9D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1NDUZD Kennedy disease 8B61.4 Orphanet 481 TPD-1NDUZD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1NDUZD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1NDUZD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1NFDIW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1NFE22 Noonan syndrome LD2F.15 Orphanet 648 TPD-1NFE22 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1NFE22 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1NFE22 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1NFE22 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1NFE22 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1NFE22 Lynch syndrome 2B90.Y Orphanet 144 TPD-1NFE22 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1NFE22 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1NG7X4 Kennedy disease 8B61.4 Orphanet 481 TPD-1NG7X4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1NG7X4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1NG7X4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1NGDHQ Kennedy disease 8B61.4 Orphanet 481 TPD-1NGDHQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1NGDHQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1NGDHQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1NI98R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1NI98R Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1NI98R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1NJGWT Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-1NJGWT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-1NL74X Noonan syndrome LD2F.15 Orphanet 648 TPD-1NL74X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1NL74X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1NL74X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1NL74X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1NL74X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1NL74X Lynch syndrome 2B90.Y Orphanet 144 TPD-1NL74X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1NL74X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1NMN8F Noonan syndrome LD2F.15 Orphanet 648 TPD-1NMN8F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1NMN8F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1NMN8F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1NMN8F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1NMN8F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1NMN8F Lynch syndrome 2B90.Y Orphanet 144 TPD-1NMN8F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1NMN8F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1NPSSK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1NR07Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1NR78L Noonan syndrome LD2F.15 Orphanet 648 TPD-1NR78L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1NR78L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1NR78L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1NR78L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1NR78L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1NR78L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1NR78L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1NR78L Craniopharyngioma 2F9A Orphanet 54595 TPD-1NR78L Cushing disease 5A70.0 Orphanet 96253 TPD-1NROM0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1NROM0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1NROM0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1O0C2N Noonan syndrome LD2F.15 Orphanet 648 TPD-1O0C2N Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-1O49SD Noonan syndrome LD2F.15 Orphanet 648 TPD-1O49SD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1O49SD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1O49SD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1O49SD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1O49SD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1O49SD Lynch syndrome 2B90.Y Orphanet 144 TPD-1O49SD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1O49SD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1OF3XJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1OF3XJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1OF3XJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1OIQWJ Familial melanoma QC61.Y Orphanet 618 TPD-1OIQWJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1OJK9Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1OJK9Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1OJK9Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1OLASI Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-1OLASI Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-1OLW70 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1OLW70 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1OM20Z CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1OPKQC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1OPKQC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1OPKQC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1OU388 Noonan syndrome LD2F.15 Orphanet 648 TPD-1OU388 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1OU388 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1OU388 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1OU388 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1OU388 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1OU388 Lynch syndrome 2B90.Y Orphanet 144 TPD-1OU388 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1OU388 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1OWYPK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1OZCMH Kennedy disease 8B61.4 Orphanet 481 TPD-1OZCMH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1OZCMH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1OZCMH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1P8HMG Kennedy disease 8B61.4 Orphanet 481 TPD-1P8HMG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1P8HMG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1P8HMG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1P8HMG Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-1P8HMG Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-1P8HMG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1P8HMG Distal myopathy, Welander type 8C75 Orphanet 603 TPD-1PAC0U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1PAC0U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1PAC0U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1PBE0Z Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1PBKGK Achondroplasia LD24.00 Orphanet 15 TPD-1PBKGK Hypochondroplasia LD24.01 Orphanet 429 TPD-1PBKGK Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-1PBKGK Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-1PBKGK Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-1PBKGK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1PBKGK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1PBKGK Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-1PBKGK Muenke syndrome LD24.GY Orphanet 53271 TPD-1PBKGK Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-1PBKGK Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-1PBKGK Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-1PCUYL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1PCUYL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1PCUYL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1PCXM0 Kennedy disease 8B61.4 Orphanet 481 TPD-1PCXM0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1PCXM0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1PCXM0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1PDRJ3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1PDRJ3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1PDRJ3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1PDRJ3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1PDWGV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1PDWGV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1PF800 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1PF800 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1PF800 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1PFKQR Noonan syndrome LD2F.15 Orphanet 648 TPD-1PFKQR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1PFKQR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1PFKQR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1PFKQR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1PFKQR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1PFKQR Lynch syndrome 2B90.Y Orphanet 144 TPD-1PFKQR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1PFKQR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1PH4BF Familial melanoma QC61.Y Orphanet 618 TPD-1PH4BF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1PHE6O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1PHE6O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1PIJFF Kennedy disease 8B61.4 Orphanet 481 TPD-1PIJFF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1PIJFF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1PIJFF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1PIJS5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1PIJS5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1PKMU8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1PKMU8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1PKTVZ Kennedy disease 8B61.4 Orphanet 481 TPD-1PKTVZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1PKTVZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1PKTVZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1PNMNW Kennedy disease 8B61.4 Orphanet 481 TPD-1PNMNW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1PNMNW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1PNMNW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1PNYPC Noonan syndrome LD2F.15 Orphanet 648 TPD-1PNYPC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1PNYPC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1PNYPC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1PNYPC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1PNYPC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1PNYPC Lynch syndrome 2B90.Y Orphanet 144 TPD-1PNYPC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1PNYPC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1PPZ8B Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1PPZ8B Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-1PPZ8B Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-1PPZ8B Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-1PPZ8B Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-1PPZ8B Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-1PPZ8B Semantic dementia 6D83 Orphanet 100069 TPD-1PPZ8B Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-1PRF32 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1PRG54 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1PZ2BQ Kennedy disease 8B61.4 Orphanet 481 TPD-1PZ2BQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1PZ2BQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1PZ2BQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1Q3CDS Kennedy disease 8B61.4 Orphanet 481 TPD-1Q3CDS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1Q3CDS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1Q3CDS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1Q6IKO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1Q6IKO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1Q6IKO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1QFSGN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-1QGBTG Kennedy disease 8B61.4 Orphanet 481 TPD-1QGBTG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1QGBTG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1QGBTG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1QM7ET Kennedy disease 8B61.4 Orphanet 481 TPD-1QM7ET Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1QM7ET Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1QM7ET Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1QQ9TQ Kennedy disease 8B61.4 Orphanet 481 TPD-1QQ9TQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1QQ9TQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1QQ9TQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1QQQMV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1QQQMV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1QRNMV Noonan syndrome LD2F.15 Orphanet 648 TPD-1QRNMV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1QRNMV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1QRNMV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1QRNMV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1QRNMV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1QRNMV Lynch syndrome 2B90.Y Orphanet 144 TPD-1QRNMV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1QRNMV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1QYK39 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1QZGJ9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-1QZGWG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1QZGWG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1R08AO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1R08AO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1R0M4Q Kennedy disease 8B61.4 Orphanet 481 TPD-1R0M4Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1R0M4Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1R0M4Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1R3EJC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1R7V48 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1R7V48 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1R7V48 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1R9M1Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1R9M1Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1R9M1Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1RACKE Familial melanoma QC61.Y Orphanet 618 TPD-1RACKE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1RC6G6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1RCJ6C Noonan syndrome LD2F.15 Orphanet 648 TPD-1RCJ6C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1RCJ6C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1RCJ6C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1RCJ6C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1RCJ6C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1RCJ6C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1RCJ6C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1RCJ6C Craniopharyngioma 2F9A Orphanet 54595 TPD-1RCJ6C Cushing disease 5A70.0 Orphanet 96253 TPD-1RDS2Z Epithelioid hemangioendothelioma 2B5Y/XH9GF8 Orphanet 157791 TPD-1RE1K6 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-1RFIX5 Kennedy disease 8B61.4 Orphanet 481 TPD-1RFIX5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1RFIX5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1RFIX5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1RINQ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-1RINQ0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1RINQ0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1RINQ0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1RINQ0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1RINQ0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1RINQ0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1RINQ0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1RINQ0 Craniopharyngioma 2F9A Orphanet 54595 TPD-1RINQ0 Cushing disease 5A70.0 Orphanet 96253 TPD-1RLJJ7 Kennedy disease 8B61.4 Orphanet 481 TPD-1RLJJ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1RLJJ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1RLJJ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1RQNG1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1RQNG1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1RQNG1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1RT46I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1RVDT6 Kennedy disease 8B61.4 Orphanet 481 TPD-1RVDT6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1RVDT6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1RVDT6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1RY1D6 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-1RZTTD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1RZTTD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1S40DV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1S61M9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1S61M9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1S61M9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1S65YG Noonan syndrome LD2F.15 Orphanet 648 TPD-1S65YG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1S65YG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1S65YG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1S65YG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1S65YG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1S65YG Lynch syndrome 2B90.Y Orphanet 144 TPD-1S65YG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1S65YG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1S9TYI Noonan syndrome LD2F.15 Orphanet 648 TPD-1S9TYI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1S9TYI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1S9TYI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1S9TYI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1S9TYI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1S9TYI Lynch syndrome 2B90.Y Orphanet 144 TPD-1S9TYI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1S9TYI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1SBDEB Noonan syndrome LD2F.15 Orphanet 648 TPD-1SBDEB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1SBDEB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1SBDEB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1SBDEB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1SBDEB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1SBDEB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1SBDEB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1SBDEB Craniopharyngioma 2F9A Orphanet 54595 TPD-1SBDEB Cushing disease 5A70.0 Orphanet 96253 TPD-1SIH8Q Kennedy disease 8B61.4 Orphanet 481 TPD-1SIH8Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1SIH8Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1SIH8Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1SLO08 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1SMQG5 Noonan syndrome LD2F.15 Orphanet 648 TPD-1SMQG5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1SMQG5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1SMQG5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1SMQG5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1SMQG5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1SMQG5 Lynch syndrome 2B90.Y Orphanet 144 TPD-1SMQG5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1SMQG5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1SNGJF Kennedy disease 8B61.4 Orphanet 481 TPD-1SNGJF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1SNGJF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1SNGJF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1SSLFJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1SSLFJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1STQ0N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1SV5QA Kennedy disease 8B61.4 Orphanet 481 TPD-1SV5QA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1SV5QA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1SV5QA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1SY0ES Familial melanoma QC61.Y Orphanet 618 TPD-1SY0ES Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1T0O8S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1T0O8S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1T0O8S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1T0QEO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1T30R1 Kennedy disease 8B61.4 Orphanet 481 TPD-1T30R1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1T30R1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1T30R1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1T6S9V Kennedy disease 8B61.4 Orphanet 481 TPD-1T6S9V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1T6S9V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1T6S9V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1T6SX1 Kennedy disease 8B61.4 Orphanet 481 TPD-1T6SX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1T6SX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1T6SX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1T8ZRY Noonan syndrome LD2F.15 Orphanet 648 TPD-1T8ZRY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1T8ZRY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1T8ZRY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1T8ZRY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1T8ZRY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1T8ZRY Lynch syndrome 2B90.Y Orphanet 144 TPD-1T8ZRY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1T8ZRY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1TFOH6 Noonan syndrome LD2F.15 Orphanet 648 TPD-1TFOH6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-1TG13F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1TG13F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1TG13F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1TIYF1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1TIYF1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1TKYDB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1TKYDB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1TKYDB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1TO3SN Noonan syndrome LD2F.15 Orphanet 648 TPD-1TO3SN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1TO3SN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1TO3SN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1TO3SN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1TO3SN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1TO3SN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1TO3SN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1TO3SN Craniopharyngioma 2F9A Orphanet 54595 TPD-1TO3SN Cushing disease 5A70.0 Orphanet 96253 TPD-1TOHCE Familial melanoma QC61.Y Orphanet 618 TPD-1TOHCE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1TOHLB Noonan syndrome LD2F.15 Orphanet 648 TPD-1TOHLB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1TOHLB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1TOHLB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1TOHLB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1TOHLB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1TOHLB Lynch syndrome 2B90.Y Orphanet 144 TPD-1TOHLB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1TOHLB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1TOZJD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1TS0NP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1TS0NP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1TS0NP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1TS0NP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1TSGJP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1TSGJP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1TSGJP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1TU4Y7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1TY4EA Kennedy disease 8B61.4 Orphanet 481 TPD-1TY4EA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1TY4EA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1TY4EA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1TYQGD Noonan syndrome LD2F.15 Orphanet 648 TPD-1TYQGD Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-1U4LSP Noonan syndrome LD2F.15 Orphanet 648 TPD-1U4LSP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1U4LSP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1U4LSP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1U4LSP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1U4LSP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1U4LSP Lynch syndrome 2B90.Y Orphanet 144 TPD-1U4LSP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1U4LSP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1U4Q04 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-1U4Q04 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-1U4Q04 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-1U4Q04 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-1U4Q04 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-1U4Q04 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-1U4Q04 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1U4Q04 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-1U4Q04 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-1U4VHB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1U4VHB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1U4VHB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1U4VHB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1U6VVJ Noonan syndrome LD2F.15 Orphanet 648 TPD-1U6VVJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-1U7858 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1U7858 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1U7858 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1U96FT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1U96FT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1UA8X8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1UA8X8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1UA8X8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1UE38J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1UE38J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1UE38J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1UE38J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1UF9O7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1UF9O7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-1UF9O7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-1UF9O7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-1UF9O7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-1UF9O7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-1UF9O7 Semantic dementia 6D83 Orphanet 100069 TPD-1UF9O7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-1US7QU Achondroplasia LD24.00 Orphanet 15 TPD-1US7QU Hypochondroplasia LD24.01 Orphanet 429 TPD-1US7QU Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-1US7QU Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-1US7QU Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-1US7QU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1US7QU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1US7QU Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-1US7QU Muenke syndrome LD24.GY Orphanet 53271 TPD-1US7QU Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-1US7QU Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-1US7QU Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-1USUS6 Noonan syndrome LD2F.15 Orphanet 648 TPD-1USUS6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1USUS6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1USUS6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1USUS6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1USUS6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1USUS6 Lynch syndrome 2B90.Y Orphanet 144 TPD-1USUS6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1USUS6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1UUJLU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-1UYV8R Kennedy disease 8B61.4 Orphanet 481 TPD-1UYV8R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1UYV8R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1UYV8R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1UZVML Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1UZVML Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1V23VW Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-1V23VW Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-1V3Q9Z Kennedy disease 8B61.4 Orphanet 481 TPD-1V3Q9Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1V3Q9Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1V3Q9Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1V5Y7O Kennedy disease 8B61.4 Orphanet 481 TPD-1V5Y7O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1V5Y7O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1V5Y7O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1V691G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1V691G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1VAOXL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1VBYIN Kennedy disease 8B61.4 Orphanet 481 TPD-1VBYIN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1VBYIN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1VBYIN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1VCTTY Burkitt lymphoma XH4KA9 Orphanet 543 TPD-1VCTTY Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-1VCTTY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-1VDMKT Kennedy disease 8B61.4 Orphanet 481 TPD-1VDMKT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1VDMKT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1VDMKT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1VH741 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1VH741 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1VH741 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1VH741 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1VIBU5 Familial melanoma QC61.Y Orphanet 618 TPD-1VIBU5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1VK6C1 Weaver syndrome LD2C Orphanet 3447 TPD-1VKB4T Kennedy disease 8B61.4 Orphanet 481 TPD-1VKB4T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1VKB4T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1VKB4T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1VLXG6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1VLXG6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1VLXG6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1VLXG6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1VMLSZ Noonan syndrome LD2F.15 Orphanet 648 TPD-1VMLSZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1VMLSZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1VMLSZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1VMLSZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1VMLSZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1VMLSZ Lynch syndrome 2B90.Y Orphanet 144 TPD-1VMLSZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1VMLSZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1VSM3G Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1W1LVR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1W24Z7 Kennedy disease 8B61.4 Orphanet 481 TPD-1W24Z7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1W24Z7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1W24Z7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1W74JC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1W74JC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1W9OWM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-1WBBHI Burkitt lymphoma XH4KA9 Orphanet 543 TPD-1WBBHI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-1WFLW8 Noonan syndrome LD2F.15 Orphanet 648 TPD-1WFLW8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1WFLW8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1WFLW8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1WFLW8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1WFLW8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1WFLW8 Lynch syndrome 2B90.Y Orphanet 144 TPD-1WFLW8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1WFLW8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1WG4K9 Noonan syndrome LD2F.15 Orphanet 648 TPD-1WG4K9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1WG4K9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1WG4K9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1WG4K9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1WG4K9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1WG4K9 Lynch syndrome 2B90.Y Orphanet 144 TPD-1WG4K9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1WG4K9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1WL41I Noonan syndrome LD2F.15 Orphanet 648 TPD-1WL41I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1WL41I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1WL41I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1WL41I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1WL41I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1WL41I Lynch syndrome 2B90.Y Orphanet 144 TPD-1WL41I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1WL41I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1WNZXF Kennedy disease 8B61.4 Orphanet 481 TPD-1WNZXF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1WNZXF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1WNZXF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1WP8WA Kennedy disease 8B61.4 Orphanet 481 TPD-1WP8WA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1WP8WA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1WP8WA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1WPJ9F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1WPJ9F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1WQCO1 Familial melanoma QC61.Y Orphanet 618 TPD-1WT0A0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1WT0A0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1X80OI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1X80OI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1X8NMV Kennedy disease 8B61.4 Orphanet 481 TPD-1X8NMV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1X8NMV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1X8NMV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1XATUN Kennedy disease 8B61.4 Orphanet 481 TPD-1XATUN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1XATUN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1XATUN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1XGWDL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1XHXYB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1XHXYB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1XHXYB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1XHXYB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1XHYB7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1XIT22 Noonan syndrome LD2F.15 Orphanet 648 TPD-1XIT22 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1XIT22 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1XIT22 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1XIT22 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1XIT22 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1XIT22 Lynch syndrome 2B90.Y Orphanet 144 TPD-1XIT22 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1XIT22 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1XJ60L Kennedy disease 8B61.4 Orphanet 481 TPD-1XJ60L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1XJ60L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1XJ60L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1XJTV8 Achondroplasia LD24.00 Orphanet 15 TPD-1XJTV8 Hypochondroplasia LD24.01 Orphanet 429 TPD-1XJTV8 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-1XJTV8 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-1XJTV8 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-1XJTV8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1XJTV8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1XJTV8 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-1XJTV8 Muenke syndrome LD24.GY Orphanet 53271 TPD-1XJTV8 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-1XJTV8 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-1XJTV8 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-1XLBCB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1XLBCB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1XMUE9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-1XMXTH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1XMXTH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1XMXTH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1XNJFC Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-1XP5E2 Kennedy disease 8B61.4 Orphanet 481 TPD-1XP5E2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1XP5E2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1XP5E2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1XSR4F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1XSR4F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1XTNLM Noonan syndrome LD2F.15 Orphanet 648 TPD-1XTNLM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1XTNLM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1XTNLM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1XTNLM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1XTNLM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1XTNLM Lynch syndrome 2B90.Y Orphanet 144 TPD-1XTNLM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1XTNLM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1XU9D1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1XVHGY Weaver syndrome LD2C Orphanet 3447 TPD-1XWBPQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1XWBPQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1XWBPQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1XYWYB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1XYWYB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1Y10XI Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-1Y1HZ5 Kennedy disease 8B61.4 Orphanet 481 TPD-1Y1HZ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1Y1HZ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1Y1HZ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1Y1UEM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1Y1UEM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1Y1UEM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1Y1UEM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1Y5V74 Kennedy disease 8B61.4 Orphanet 481 TPD-1Y5V74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1Y5V74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1Y5V74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1Y697Q Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-1Y697Q Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-1Y6FMW Noonan syndrome LD2F.15 Orphanet 648 TPD-1Y6FMW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1Y6FMW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1Y6FMW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1Y6FMW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1Y6FMW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1Y6FMW Lynch syndrome 2B90.Y Orphanet 144 TPD-1Y6FMW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1Y6FMW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1Y99PF Familial melanoma QC61.Y Orphanet 618 TPD-1YAD39 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1YAD39 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1YAD39 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1YEKF1 Familial melanoma QC61.Y Orphanet 618 TPD-1YEKF1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-1YFXHX Cystic fibrosis CA25 Orphanet 586 TPD-1YFXHX Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-1YFXYK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1YFXYK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1YFXYK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1YFXYK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1YKNHP Kennedy disease 8B61.4 Orphanet 481 TPD-1YKNHP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1YKNHP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1YKNHP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1YMBM6 Kennedy disease 8B61.4 Orphanet 481 TPD-1YMBM6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1YMBM6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1YMBM6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1YMJLY Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-1YMLI3 Noonan syndrome LD2F.15 Orphanet 648 TPD-1YMLI3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1YMLI3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1YMLI3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1YMLI3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1YMLI3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1YMLI3 Lynch syndrome 2B90.Y Orphanet 144 TPD-1YMLI3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1YMLI3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1YT3K8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1YT3K8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1YT3K8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1YUDUB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1YUDUB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1YUDUB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1YVOIU Noonan syndrome LD2F.15 Orphanet 648 TPD-1YVOIU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1YVOIU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1YVOIU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1YVOIU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1YVOIU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1YVOIU Lynch syndrome 2B90.Y Orphanet 144 TPD-1YVOIU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1YVOIU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1YZ24I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1YZ24I Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1Z1KFC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1Z1KFC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1Z1KFC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1Z1KFC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1Z45DE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-1Z45DE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-1Z45DE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-1Z45DE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-1Z45DE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-1Z45DE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-1Z45DE Semantic dementia 6D83 Orphanet 100069 TPD-1Z45DE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-1Z4S2C Weaver syndrome LD2C Orphanet 3447 TPD-1Z4S2C Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-1Z53IC Kennedy disease 8B61.4 Orphanet 481 TPD-1Z53IC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1Z53IC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1Z53IC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1Z5DBK Noonan syndrome LD2F.15 Orphanet 648 TPD-1Z5DBK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1Z5DBK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1Z5DBK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1Z5DBK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1Z5DBK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1Z5DBK Lynch syndrome 2B90.Y Orphanet 144 TPD-1Z5DBK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1Z5DBK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1Z5STB Noonan syndrome LD2F.15 Orphanet 648 TPD-1Z5STB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-1Z5STB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1Z5STB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-1Z5STB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1Z5STB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-1Z5STB Lynch syndrome 2B90.Y Orphanet 144 TPD-1Z5STB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-1Z5STB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-1Z6K7B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1Z6K7B Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1Z6K7B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1Z7024 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1Z9BPZ 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-1ZBVUD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1ZBVUD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1ZBVUD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1ZD2YU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-1ZD2YU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-1ZD2YU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-1ZDBCD Kennedy disease 8B61.4 Orphanet 481 TPD-1ZDBCD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1ZDBCD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1ZDBCD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1ZK0N9 Kennedy disease 8B61.4 Orphanet 481 TPD-1ZK0N9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1ZK0N9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1ZK0N9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1ZOFYN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-1ZOFYN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-1ZOFYN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-1ZOVYG Noonan syndrome LD2F.15 Orphanet 648 TPD-1ZOVYG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-1ZOVYG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-1ZOVYG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-1ZOVYG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-1ZOVYG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-1ZOVYG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-1ZOVYG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-1ZOVYG Craniopharyngioma 2F9A Orphanet 54595 TPD-1ZOVYG Cushing disease 5A70.0 Orphanet 96253 TPD-1ZPNWU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-1ZPNWU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-1ZQQM3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-1ZQQM3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-1ZRL43 Kennedy disease 8B61.4 Orphanet 481 TPD-1ZRL43 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1ZRL43 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1ZRL43 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1ZS7FS Kennedy disease 8B61.4 Orphanet 481 TPD-1ZS7FS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1ZS7FS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1ZS7FS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1ZSJO6 Kennedy disease 8B61.4 Orphanet 481 TPD-1ZSJO6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-1ZSJO6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-1ZSJO6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-1ZW5LF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-1ZW5LF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-1ZW5LF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-1ZW5LF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-1ZY8Q9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-202JO6 Kennedy disease 8B61.4 Orphanet 481 TPD-202JO6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-202JO6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-202JO6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-202M5X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-204GEE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-204GEE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-207PG0 Noonan syndrome LD2F.15 Orphanet 648 TPD-207PG0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-207PG0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-207PG0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-207PG0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-207PG0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-207PG0 Lynch syndrome 2B90.Y Orphanet 144 TPD-207PG0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-207PG0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2098UL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2098UL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-20AQ9V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-20AQ9V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-20GQEL Kennedy disease 8B61.4 Orphanet 481 TPD-20GQEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-20GQEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-20GQEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-20IX0B Noonan syndrome LD2F.15 Orphanet 648 TPD-20IX0B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-20IX0B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-20IX0B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-20IX0B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-20IX0B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-20IX0B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-20IX0B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-20IX0B Craniopharyngioma 2F9A Orphanet 54595 TPD-20IX0B Cushing disease 5A70.0 Orphanet 96253 TPD-20JS7W Kennedy disease 8B61.4 Orphanet 481 TPD-20JS7W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-20JS7W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-20JS7W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-20KKFA Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-20LHFM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-20MANA Noonan syndrome LD2F.15 Orphanet 648 TPD-20MANA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-20MANA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-20MANA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-20MANA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-20MANA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-20MANA Lynch syndrome 2B90.Y Orphanet 144 TPD-20MANA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-20MANA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-20NR5F Noonan syndrome LD2F.15 Orphanet 648 TPD-20NR5F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-20NR5F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-20NR5F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-20NR5F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-20NR5F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-20NR5F Lynch syndrome 2B90.Y Orphanet 144 TPD-20NR5F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-20NR5F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-20PEC2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-20PEC2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-20VY4K Noonan syndrome LD2F.15 Orphanet 648 TPD-20VY4K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-20VY4K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-20VY4K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-20VY4K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-20VY4K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-20VY4K Lynch syndrome 2B90.Y Orphanet 144 TPD-20VY4K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-20VY4K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-20YMCO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-20Z8J9 Kennedy disease 8B61.4 Orphanet 481 TPD-20Z8J9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-20Z8J9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-20Z8J9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-20ZZVM Familial melanoma QC61.Y Orphanet 618 TPD-20ZZVM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2164OC Noonan syndrome LD2F.15 Orphanet 648 TPD-2164OC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2164OC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2164OC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2164OC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2164OC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2164OC Lynch syndrome 2B90.Y Orphanet 144 TPD-2164OC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2164OC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-217NZY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2186PT Familial melanoma QC61.Y Orphanet 618 TPD-2186PT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-219024 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-21AGU7 Familial melanoma QC61.Y Orphanet 618 TPD-21AGU7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-21BHXD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-21BHXD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-21BHXD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-21C50J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-21C50J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-21G322 Kennedy disease 8B61.4 Orphanet 481 TPD-21G322 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-21G322 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-21G322 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-21NGJK Noonan syndrome LD2F.15 Orphanet 648 TPD-21NGJK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-21NGJK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-21NGJK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-21NGJK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-21NGJK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-21NGJK Lynch syndrome 2B90.Y Orphanet 144 TPD-21NGJK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-21NGJK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-21QL7Z Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-21QL7Z Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-21QL7Z Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-21RSM9 Kennedy disease 8B61.4 Orphanet 481 TPD-21RSM9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-21RSM9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-21RSM9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-21S82O Familial melanoma QC61.Y Orphanet 618 TPD-21S82O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-21SEZP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-21VE2O Kennedy disease 8B61.4 Orphanet 481 TPD-21VE2O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-21VE2O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-21VE2O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-221712 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-223GYE Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-223GYE Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-224F1G Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 2A51 Orphanet 168950 TPD-224F1G Bilateral striopallidodentate calcinosis LD20.4 Orphanet 1980 TPD-224F1G Infantile myofibromatosis 2F7C Orphanet 2591 TPD-224F1G Kosaki overgrowth syndrome LD2C Orphanet 477831 TPD-224F1G Chronic myeloproliferative disease, unclassifiable 2A22 Orphanet 86830 TPD-2257GZ Familial melanoma QC61.Y Orphanet 618 TPD-2257GZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2259C2 Kennedy disease 8B61.4 Orphanet 481 TPD-2259C2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2259C2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2259C2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-227OER Kennedy disease 8B61.4 Orphanet 481 TPD-227OER Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-227OER Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-227OER Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-229EOM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-22BBNG Familial melanoma QC61.Y Orphanet 618 TPD-22BBNG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-22BSUD Noonan syndrome LD2F.15 Orphanet 648 TPD-22BSUD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-22BSUD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-22BSUD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-22BSUD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-22BSUD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-22BSUD Lynch syndrome 2B90.Y Orphanet 144 TPD-22BSUD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-22BSUD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-22CZI1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-22CZI1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-22CZI1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-22F109 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-22F109 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-22G8UF Noonan syndrome LD2F.15 Orphanet 648 TPD-22G8UF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-22G8UF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-22G8UF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-22G8UF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-22G8UF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-22G8UF Lynch syndrome 2B90.Y Orphanet 144 TPD-22G8UF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-22G8UF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-22GTR8 Kennedy disease 8B61.4 Orphanet 481 TPD-22GTR8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-22GTR8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-22GTR8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-22IC2R CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-22K0KG Kennedy disease 8B61.4 Orphanet 481 TPD-22K0KG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-22K0KG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-22K0KG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-22KB62 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-22TXMI Kennedy disease 8B61.4 Orphanet 481 TPD-22TXMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-22TXMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-22TXMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-22WAUW Noonan syndrome LD2F.15 Orphanet 648 TPD-22WAUW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-22WAUW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-22WAUW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-22WAUW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-22WAUW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-22WAUW Lynch syndrome 2B90.Y Orphanet 144 TPD-22WAUW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-22WAUW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-22XHSM Noonan syndrome LD2F.15 Orphanet 648 TPD-22XHSM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-22XHSM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-22XHSM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-22XHSM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-22XHSM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-22XHSM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-22XHSM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-22XHSM Craniopharyngioma 2F9A Orphanet 54595 TPD-22XHSM Cushing disease 5A70.0 Orphanet 96253 TPD-22YXMP Noonan syndrome LD2F.15 Orphanet 648 TPD-22YXMP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-22YXMP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-22YXMP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-22YXMP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-22YXMP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-22YXMP Lynch syndrome 2B90.Y Orphanet 144 TPD-22YXMP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-22YXMP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2326Z1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2326Z1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-233AVI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-233AVI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2348GJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-235VQX Kennedy disease 8B61.4 Orphanet 481 TPD-235VQX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-235VQX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-235VQX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-238BYM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-238BYM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-238BYM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-23CYQH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-23CYQH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-23D30O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-23DWAY Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-23DWAY Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-23DWAY Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-23DWAY Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-23DWAY Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-23DWAY Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-23DWAY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-23DWAY Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-23DWAY Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-23H6UO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-23HAP4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-23KEK4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-23KEK4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-23KEK4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-23KIVH Familial melanoma QC61.Y Orphanet 618 TPD-23KIVH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-23LHQQ Noonan syndrome LD2F.15 Orphanet 648 TPD-23LHQQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-23LHQQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-23LHQQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-23LHQQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-23LHQQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-23LHQQ Lynch syndrome 2B90.Y Orphanet 144 TPD-23LHQQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-23LHQQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-23MVEW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-23MVEW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-23MVEW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-23MVEW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-23N1IV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-23N1IV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-23NDHO Noonan syndrome LD2F.15 Orphanet 648 TPD-23NDHO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-23NDHO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-23NDHO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-23NDHO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-23NDHO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-23NDHO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-23NDHO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-23NDHO Craniopharyngioma 2F9A Orphanet 54595 TPD-23NDHO Cushing disease 5A70.0 Orphanet 96253 TPD-23NF0R Kennedy disease 8B61.4 Orphanet 481 TPD-23NF0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-23NF0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-23NF0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-23O6A3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-23O6A3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-23O6A3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-23OLRL Noonan syndrome LD2F.15 Orphanet 648 TPD-23OLRL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-23OLRL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-23OLRL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-23OLRL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-23OLRL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-23OLRL Lynch syndrome 2B90.Y Orphanet 144 TPD-23OLRL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-23OLRL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-23PZTC Kennedy disease 8B61.4 Orphanet 481 TPD-23PZTC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-23PZTC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-23PZTC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-23R6B6 Noonan syndrome LD2F.15 Orphanet 648 TPD-23R6B6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-23R6B6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-23R6B6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-23R6B6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-23R6B6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-23R6B6 Lynch syndrome 2B90.Y Orphanet 144 TPD-23R6B6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-23R6B6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-241NSS Kennedy disease 8B61.4 Orphanet 481 TPD-241NSS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-241NSS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-241NSS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-244QZK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-244QZK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-244QZK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2451LE Kennedy disease 8B61.4 Orphanet 481 TPD-2451LE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2451LE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2451LE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-24DQAO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-24F5D4 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-24F5D4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-24F5D4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-24I4GO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-24K75B Kennedy disease 8B61.4 Orphanet 481 TPD-24K75B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-24K75B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-24K75B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-24MJP6 Kennedy disease 8B61.4 Orphanet 481 TPD-24MJP6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-24MJP6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-24MJP6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-24OPD1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-24OPD1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-24OZSM Kennedy disease 8B61.4 Orphanet 481 TPD-24OZSM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-24OZSM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-24OZSM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-24ROLB Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-24S1WM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-24S1WM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-24S1WM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-253C6I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-253ZXH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-253ZXH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-254LPH Noonan syndrome LD2F.15 Orphanet 648 TPD-254LPH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-254LPH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-254LPH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-254LPH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-254LPH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-254LPH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-254LPH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-254LPH Craniopharyngioma 2F9A Orphanet 54595 TPD-254LPH Cushing disease 5A70.0 Orphanet 96253 TPD-25EMG6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-25EMG6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-25ERT2 Familial melanoma QC61.Y Orphanet 618 TPD-25ERT2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-25EUOR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-25EUOR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-25EUOR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-25EUOR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-25FL6L Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-25G3RN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-25GUHQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-25HADY Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-25HADY Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-25INLE Noonan syndrome LD2F.15 Orphanet 648 TPD-25INLE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-25INLE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-25INLE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-25INLE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-25INLE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-25INLE Lynch syndrome 2B90.Y Orphanet 144 TPD-25INLE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-25INLE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-25N404 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-25N404 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-25NDYS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-25NDYS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-25NDYS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-25NDYS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-25Q7M3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-25Q7M3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-25RVYG Kennedy disease 8B61.4 Orphanet 481 TPD-25RVYG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-25RVYG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-25RVYG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-25RZD9 Kennedy disease 8B61.4 Orphanet 481 TPD-25RZD9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-25RZD9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-25RZD9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-25VH4L Kennedy disease 8B61.4 Orphanet 481 TPD-25VH4L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-25VH4L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-25VH4L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-25X0G5 Familial melanoma QC61.Y Orphanet 618 TPD-25X0G5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-25X57G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-25X57G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-25YI0W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-25YI0W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-25Z0DA Noonan syndrome LD2F.15 Orphanet 648 TPD-25Z0DA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-25Z0DA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-25Z0DA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-25Z0DA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-25Z0DA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-25Z0DA Lynch syndrome 2B90.Y Orphanet 144 TPD-25Z0DA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-25Z0DA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-261DWQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-261DWQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-261DWQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-261DWQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-263U1M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-263U1M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-264VKD Kennedy disease 8B61.4 Orphanet 481 TPD-264VKD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-264VKD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-264VKD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26585G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-26585G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-265XXE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-265XXE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-26DU2W Kennedy disease 8B61.4 Orphanet 481 TPD-26DU2W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-26DU2W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-26DU2W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26E6ST Estrogen resistance syndrome 5A90 Orphanet 785 TPD-26E6ST Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-26EO5D Kennedy disease 8B61.4 Orphanet 481 TPD-26EO5D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-26EO5D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-26EO5D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26NRY1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-26NRY1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-26NRY1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-26OREK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-26OREK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-26OREK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-26Q52P Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-26QP0Q Kennedy disease 8B61.4 Orphanet 481 TPD-26QP0Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-26QP0Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-26QP0Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26RW3U Noonan syndrome LD2F.15 Orphanet 648 TPD-26RW3U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-26RW3U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-26RW3U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-26RW3U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-26RW3U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-26RW3U Lynch syndrome 2B90.Y Orphanet 144 TPD-26RW3U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-26RW3U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-26SSBI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-26SSBI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-26SSBI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-26SSBI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-26UX3J Kennedy disease 8B61.4 Orphanet 481 TPD-26UX3J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-26UX3J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-26UX3J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26VRBT Kennedy disease 8B61.4 Orphanet 481 TPD-26VRBT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-26VRBT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-26VRBT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-26ZQHN Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-26ZQHN Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-26ZQHN Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-26ZQHN Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-26ZQHN Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-26ZQHN Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-26ZQHN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-26ZQHN Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-26ZQHN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-271FGN Noonan syndrome LD2F.15 Orphanet 648 TPD-271FGN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-271FGN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-271FGN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-271FGN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-271FGN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-271FGN Lynch syndrome 2B90.Y Orphanet 144 TPD-271FGN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-271FGN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2736PA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-273A46 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-273A46 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-273A46 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-273A46 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-275PAF Noonan syndrome LD2F.15 Orphanet 648 TPD-275PAF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-275PAF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-275PAF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-275PAF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-275PAF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-275PAF Lynch syndrome 2B90.Y Orphanet 144 TPD-275PAF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-275PAF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-27CA8D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-27CA8D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-27CA8D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-27CA8D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-27OGFV Kennedy disease 8B61.4 Orphanet 481 TPD-27OGFV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-27OGFV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-27OGFV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-27OWZV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-27OWZV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-27Q6Z0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-27QSHP Kennedy disease 8B61.4 Orphanet 481 TPD-27QSHP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-27QSHP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-27QSHP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-27STP8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-27TCG0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-27TCG0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-27TKHX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-27TKHX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-27TKHX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-281J3Z Weaver syndrome LD2C Orphanet 3447 TPD-284Y5X Kennedy disease 8B61.4 Orphanet 481 TPD-284Y5X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-284Y5X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-284Y5X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-28BHOP Familial melanoma QC61.Y Orphanet 618 TPD-28BHOP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-28EZ7W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-28EZ7W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-28EZ7W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-28EZ7W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-28H9K0 Familial melanoma QC61.Y Orphanet 618 TPD-28H9K0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-28MHGK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-28MHGK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-28MHGK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-28MHGK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-28OJT2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-28OJT2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-28OTVP Kennedy disease 8B61.4 Orphanet 481 TPD-28OTVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-28OTVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-28OTVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-28RDUO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-28RDUO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-28UKSX Kennedy disease 8B61.4 Orphanet 481 TPD-28UKSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-28UKSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-28UKSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-28VVEP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-28VVEP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-28VVEP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-28XF5J Noonan syndrome LD2F.15 Orphanet 648 TPD-28XF5J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-28XF5J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-28XF5J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-28XF5J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-28XF5J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-28XF5J Lynch syndrome 2B90.Y Orphanet 144 TPD-28XF5J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-28XF5J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-28XMDT Noonan syndrome LD2F.15 Orphanet 648 TPD-28XMDT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-28XMDT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-28XMDT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-28XMDT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-28XMDT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-28XMDT Lynch syndrome 2B90.Y Orphanet 144 TPD-28XMDT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-28XMDT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2904TH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2914XA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2943PK Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-2943PK Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-2943PK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2943PK Distal myopathy, Welander type 8C75 Orphanet 603 TPD-2943PK Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-2943PK Desminopathy 8C76 Orphanet 98909 TPD-294AAJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-294AAJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-295J6N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-295PQO Kennedy disease 8B61.4 Orphanet 481 TPD-295PQO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-295PQO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-295PQO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2972LM Noonan syndrome LD2F.15 Orphanet 648 TPD-2972LM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-29AR17 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-29AR17 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-29B0WK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-29B0WK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-29B0WK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-29B0WK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-29B0WK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-29B0WK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-29B0WK Semantic dementia 6D83 Orphanet 100069 TPD-29B0WK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-29CDO3 Williams syndrome LD44.70 Orphanet 904 TPD-29E6C9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-29E6C9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-29GENP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-29GENP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-29GENP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-29IX2H Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-29IX2H Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-29K6DC Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-29K6DC Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-29LMYS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-29LMYS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-29LMYS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-29M502 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-29MOBN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-29OEQ9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-29OJEN Noonan syndrome LD2F.15 Orphanet 648 TPD-29OJEN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-29OJEN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-29OJEN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-29OJEN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-29OJEN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-29OJEN Lynch syndrome 2B90.Y Orphanet 144 TPD-29OJEN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-29OJEN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-29PE8U Kennedy disease 8B61.4 Orphanet 481 TPD-29PE8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-29PE8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-29PE8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-29T0MG Noonan syndrome LD2F.15 Orphanet 648 TPD-29T0MG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-29T0MG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-29T0MG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-29T0MG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-29T0MG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-29T0MG Lynch syndrome 2B90.Y Orphanet 144 TPD-29T0MG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-29T0MG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-29TMU3 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-29TMU3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-29UTYT Noonan syndrome LD2F.15 Orphanet 648 TPD-29UTYT Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-29UVEN Noonan syndrome LD2F.15 Orphanet 648 TPD-29UVEN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-29UVEN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-29UVEN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-29UVEN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-29UVEN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-29UVEN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-29UVEN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-29UVEN Craniopharyngioma 2F9A Orphanet 54595 TPD-29UVEN Cushing disease 5A70.0 Orphanet 96253 TPD-29UW7I Familial melanoma QC61.Y Orphanet 618 TPD-29UW7I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-29V7GP Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-29YCMF Noonan syndrome LD2F.15 Orphanet 648 TPD-29YCMF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-29YCMF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-29YCMF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-29YCMF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-29YCMF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-29YCMF Lynch syndrome 2B90.Y Orphanet 144 TPD-29YCMF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-29YCMF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-29ZX6B Early-onset generalized limb-onset dystonia 8A02.0Y Orphanet 256 TPD-29ZX6B Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-29ZX6B Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-29ZX6B Seckel syndrome LD24.D Orphanet 808 TPD-29ZX6B Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-2A0YIS Kennedy disease 8B61.4 Orphanet 481 TPD-2A0YIS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2A0YIS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2A0YIS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2A394O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2A394O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2A394O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2A394O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2A5RHV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2A5RHV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2A5RHV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2AC4NY Kennedy disease 8B61.4 Orphanet 481 TPD-2AC4NY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2AC4NY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2AC4NY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2AF2O9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2AGBTP Kennedy disease 8B61.4 Orphanet 481 TPD-2AGBTP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2AGBTP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2AGBTP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2AHVTI Noonan syndrome LD2F.15 Orphanet 648 TPD-2AHVTI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2AHVTI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2AHVTI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2AHVTI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2AHVTI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2AHVTI Lynch syndrome 2B90.Y Orphanet 144 TPD-2AHVTI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2AHVTI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2AIC77 Kennedy disease 8B61.4 Orphanet 481 TPD-2AIC77 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2AIC77 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2AIC77 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2AKO87 Noonan syndrome LD2F.15 Orphanet 648 TPD-2AKO87 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2AKO87 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2AKO87 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2AKO87 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2AKO87 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2AKO87 Lynch syndrome 2B90.Y Orphanet 144 TPD-2AKO87 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2AKO87 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2AM12Q Kennedy disease 8B61.4 Orphanet 481 TPD-2AM12Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2AM12Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2AM12Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2ANHJK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2AS3XB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2AS3XB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2AS3XB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2ATTWD Familial melanoma QC61.Y Orphanet 618 TPD-2AVZ5E Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2AVZ5E Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2AWUPM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2AZYN9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2B1H0S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2B1H0S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2B1H0S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2B1H0S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2B3ME8 Noonan syndrome LD2F.15 Orphanet 648 TPD-2B3ME8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2B3ME8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2B3ME8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2B3ME8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2B3ME8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2B3ME8 Lynch syndrome 2B90.Y Orphanet 144 TPD-2B3ME8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2B3ME8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2B79AH Kennedy disease 8B61.4 Orphanet 481 TPD-2B79AH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2B79AH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2B79AH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2BAV7P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2BAV7P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2BAV7P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2BCDJ2 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-2BFQ66 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2BG8FA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2BG8FA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2BGDTT Noonan syndrome LD2F.15 Orphanet 648 TPD-2BGDTT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2BGDTT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2BGDTT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2BGDTT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2BGDTT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2BGDTT Lynch syndrome 2B90.Y Orphanet 144 TPD-2BGDTT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2BGDTT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2BIM30 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2BIM30 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2BK59V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2BK59V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2BK59V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2BMP39 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-2BMP39 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-2BMP39 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-2BMP39 Polycythemia vera 2A20.4 Orphanet 729 TPD-2BMP39 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-2BMP39 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-2BMP39 T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-2BQHXL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2BQHXL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2BUKFR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2BUKFR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2BUKFR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2BV1V3 Noonan syndrome LD2F.15 Orphanet 648 TPD-2BV1V3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2BV1V3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2BV1V3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2BV1V3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2BV1V3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2BV1V3 Lynch syndrome 2B90.Y Orphanet 144 TPD-2BV1V3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2BV1V3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2BY7NO Noonan syndrome LD2F.15 Orphanet 648 TPD-2BY7NO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2BY7NO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2BY7NO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2BY7NO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2BY7NO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2BY7NO Lynch syndrome 2B90.Y Orphanet 144 TPD-2BY7NO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2BY7NO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2BYGLT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2C6J8W Familial melanoma QC61.Y Orphanet 618 TPD-2CHPC0 Weaver syndrome LD2C Orphanet 3447 TPD-2CIWUG Kennedy disease 8B61.4 Orphanet 481 TPD-2CIWUG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CIWUG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CIWUG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CIYEK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2CNLKR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2CNYZQ Kennedy disease 8B61.4 Orphanet 481 TPD-2CNYZQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CNYZQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CNYZQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CPIV1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2CR044 Kennedy disease 8B61.4 Orphanet 481 TPD-2CR044 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CR044 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CR044 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CR71L Kennedy disease 8B61.4 Orphanet 481 TPD-2CR71L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CR71L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CR71L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CUKWI Kennedy disease 8B61.4 Orphanet 481 TPD-2CUKWI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CUKWI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CUKWI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CWAA2 Kennedy disease 8B61.4 Orphanet 481 TPD-2CWAA2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CWAA2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CWAA2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CYM7K Kennedy disease 8B61.4 Orphanet 481 TPD-2CYM7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CYM7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CYM7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2CYU0O Kennedy disease 8B61.4 Orphanet 481 TPD-2CYU0O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2CYU0O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2CYU0O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2D2ESN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2D2ESN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2D2ESN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2D388L Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2D3IHO Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-2D3IHO Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-2D3IHO Primary myelofibrosis 2A20.2 Orphanet 824 TPD-2D3IHO Polycythemia vera 2A20.4 Orphanet 729 TPD-2D3IHO Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-2D3IHO Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-2D3IHO T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-2D8NH5 Kennedy disease 8B61.4 Orphanet 481 TPD-2D8NH5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2D8NH5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2D8NH5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2D9N12 Kennedy disease 8B61.4 Orphanet 481 TPD-2D9N12 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2D9N12 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2D9N12 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2DC1D3 Plaque-form urticaria pigmentosa 2A21.10 Orphanet 158769 TPD-2DC1D3 Typical urticaria pigmentosa 2A21.10 Orphanet 158766 TPD-2DC1D3 Isolated bone marrow mastocytosis 2A21.0Y Orphanet 158778 TPD-2DC1D3 Smoldering systemic mastocytosis 2A21.0Y Orphanet 158775 TPD-2DC1D3 Nodular urticaria pigmentosa 2A21.10 Orphanet 158772 TPD-2DC1D3 Piebaldism EC23.2Y Orphanet 2884 TPD-2DC1D3 Testicular seminomatous germ cell tumor 2C80.2 Orphanet 842 TPD-2DC1D3 Bullous diffuse cutaneous mastocytosis 2A21.1Y Orphanet 280785 TPD-2DC1D3 Pseudoxanthomatous diffuse cutaneous mastocytosis 2A21.1Y Orphanet 280794 TPD-2DC1D3 Acute mast cell leukemia 2A21.00 Orphanet 566393 TPD-2DC1D3 Chronic mast cell leukemia 2A21.00 Orphanet 566396 TPD-2DC1D3 Gastrointestinal stromal tumor 2B5B/XH9HQ1 Orphanet 44890 TPD-2DC1D3 Telangiectasia macularis eruptiva perstans 2A21.1Y Orphanet 90389 TPD-2DC1D3 Cutaneous mastocytoma 2A21.1Y Orphanet 79455 TPD-2DC1D3 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-2DC1D3 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-2DC1D3 Systemic mastocytosis with associated hematologic neoplasm 2A21.0Y/XH5195 Orphanet 98849 TPD-2DC1D3 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-2DINR9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2DJGT1 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-2DU67U Kennedy disease 8B61.4 Orphanet 481 TPD-2DU67U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2DU67U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2DU67U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2DWI9W Kennedy disease 8B61.4 Orphanet 481 TPD-2DWI9W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2DWI9W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2DWI9W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2DY1P2 Kennedy disease 8B61.4 Orphanet 481 TPD-2DY1P2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2DY1P2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2DY1P2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2E4AIS Kennedy disease 8B61.4 Orphanet 481 TPD-2E4AIS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2E4AIS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2E4AIS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2E59W5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-2EC1E7 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-2ECBWP Kennedy disease 8B61.4 Orphanet 481 TPD-2ECBWP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2ECBWP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2ECBWP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2EIGGO Kennedy disease 8B61.4 Orphanet 481 TPD-2EIGGO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2EIGGO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2EIGGO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2EJ1YV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2EM4E7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2ENGBQ Noonan syndrome LD2F.15 Orphanet 648 TPD-2ENGBQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2ENGBQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2ENGBQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ENGBQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ENGBQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2ENGBQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2ENGBQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2ENGBQ Craniopharyngioma 2F9A Orphanet 54595 TPD-2ENGBQ Cushing disease 5A70.0 Orphanet 96253 TPD-2ERCSC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2ERCSC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2EVNZY Burkitt lymphoma XH4KA9 Orphanet 543 TPD-2EVNZY Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-2EY5N0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2EYD04 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2EZY5W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2F0247 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2F0247 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2F4LLC Kennedy disease 8B61.4 Orphanet 481 TPD-2F4LLC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2F4LLC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2F4LLC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2FCBYI Weaver syndrome LD2C Orphanet 3447 TPD-2FEHP1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2FGTUH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FGTUH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FGTUH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FGTUH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FHWIC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FHWIC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FHWIC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FHWIC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FJH67 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FJH67 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FJH67 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FJH67 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FLNBN Familial melanoma QC61.Y Orphanet 618 TPD-2FLNBN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2FN9EL Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-2FO2KR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FO2KR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FO2KR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FO2KR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FPBPX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FPBPX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FPBPX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FPBPX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FTAJI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FTAJI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FTAJI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FTAJI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FTRSX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2FTRSX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2FTRSX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2FTRSX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2FUFYP Noonan syndrome LD2F.15 Orphanet 648 TPD-2FUFYP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2FUFYP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2FUFYP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2FUFYP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2FUFYP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2FUFYP Lynch syndrome 2B90.Y Orphanet 144 TPD-2FUFYP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2FUFYP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2FX9JC Noonan syndrome LD2F.15 Orphanet 648 TPD-2FX9JC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2FX9JC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2FX9JC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2FX9JC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2FX9JC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2FX9JC Lynch syndrome 2B90.Y Orphanet 144 TPD-2FX9JC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2FX9JC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2FYBMH Kennedy disease 8B61.4 Orphanet 481 TPD-2FYBMH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2FYBMH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2FYBMH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2G09L6 Noonan syndrome LD2F.15 Orphanet 648 TPD-2G09L6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2G09L6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2G09L6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2G09L6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2G09L6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2G09L6 Lynch syndrome 2B90.Y Orphanet 144 TPD-2G09L6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2G09L6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2G4ODW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2G9A28 Noonan syndrome LD2F.15 Orphanet 648 TPD-2G9A28 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2G9A28 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2G9A28 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2G9A28 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2G9A28 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2G9A28 Lynch syndrome 2B90.Y Orphanet 144 TPD-2G9A28 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2G9A28 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2GA95K Kennedy disease 8B61.4 Orphanet 481 TPD-2GA95K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GA95K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GA95K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GEAXX Kennedy disease 8B61.4 Orphanet 481 TPD-2GEAXX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GEAXX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GEAXX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GG9FE Kennedy disease 8B61.4 Orphanet 481 TPD-2GG9FE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GG9FE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GG9FE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GGTTS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2GJQFO Kennedy disease 8B61.4 Orphanet 481 TPD-2GJQFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GJQFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GJQFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GL05E Kennedy disease 8B61.4 Orphanet 481 TPD-2GL05E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GL05E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GL05E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GM59K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2GM59K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2GM59K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2GRWSG Kennedy disease 8B61.4 Orphanet 481 TPD-2GRWSG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2GRWSG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2GRWSG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2GWLR1 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-2GWWJJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2H6E17 Familial melanoma QC61.Y Orphanet 618 TPD-2H6E17 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2H7EVG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2H7EVG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2H7EVG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2HBW67 Kennedy disease 8B61.4 Orphanet 481 TPD-2HBW67 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2HBW67 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2HBW67 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2HCNTG Kennedy disease 8B61.4 Orphanet 481 TPD-2HCNTG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2HCNTG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2HCNTG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2HD0Q5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2HD0Q5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-2HD0Q5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-2HD0Q5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-2HD0Q5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-2HD0Q5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-2HD0Q5 Semantic dementia 6D83 Orphanet 100069 TPD-2HD0Q5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-2HEBEU Kennedy disease 8B61.4 Orphanet 481 TPD-2HEBEU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2HEBEU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2HEBEU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2HFRA8 Kennedy disease 8B61.4 Orphanet 481 TPD-2HFRA8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2HFRA8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2HFRA8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2HGZKO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2HGZKO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2HLG07 Noonan syndrome LD2F.15 Orphanet 648 TPD-2HLG07 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2HLG07 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2HLG07 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2HLG07 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2HLG07 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2HLG07 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2HLG07 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2HLG07 Craniopharyngioma 2F9A Orphanet 54595 TPD-2HLG07 Cushing disease 5A70.0 Orphanet 96253 TPD-2HLG07 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-2HLI76 Noonan syndrome LD2F.15 Orphanet 648 TPD-2HLI76 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2HLI76 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2HLI76 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2HLI76 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2HLI76 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2HLI76 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2HLI76 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2HLI76 Craniopharyngioma 2F9A Orphanet 54595 TPD-2HLI76 Cushing disease 5A70.0 Orphanet 96253 TPD-2HS95D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2HS95D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2HTKQX Noonan syndrome LD2F.15 Orphanet 648 TPD-2HTKQX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2HTKQX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2HTKQX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2HTKQX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2HTKQX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2HTKQX Lynch syndrome 2B90.Y Orphanet 144 TPD-2HTKQX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2HTKQX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2HWF4W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2HWF4W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2HZK64 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2I0H2Q Weaver syndrome LD2C Orphanet 3447 TPD-2I0H2Q Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-2I0LMY Noonan syndrome LD2F.15 Orphanet 648 TPD-2I0LMY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2I0LMY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2I0LMY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2I0LMY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2I0LMY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2I0LMY Lynch syndrome 2B90.Y Orphanet 144 TPD-2I0LMY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2I0LMY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2I1VRL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2I1VRL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2I5E58 Noonan syndrome LD2F.15 Orphanet 648 TPD-2I5E58 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2I5E58 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2I5E58 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2I5E58 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2I5E58 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2I5E58 Lynch syndrome 2B90.Y Orphanet 144 TPD-2I5E58 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2I5E58 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2I7K4O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2I7YTG Kennedy disease 8B61.4 Orphanet 481 TPD-2I7YTG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2I7YTG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2I7YTG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2I8FA7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2I8FA7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2I8FA7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2I8FA7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2I93PB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-2I93PB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-2I95SX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2IA6I3 Noonan syndrome LD2F.15 Orphanet 648 TPD-2IA6I3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2IA6I3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2IA6I3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2IA6I3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2IA6I3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2IA6I3 Lynch syndrome 2B90.Y Orphanet 144 TPD-2IA6I3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2IA6I3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2IH2IT Kennedy disease 8B61.4 Orphanet 481 TPD-2IH2IT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2IH2IT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2IH2IT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2IQC7H Noonan syndrome LD2F.15 Orphanet 648 TPD-2IQC7H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2IQC7H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2IQC7H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2IQC7H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2IQC7H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2IQC7H Lynch syndrome 2B90.Y Orphanet 144 TPD-2IQC7H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2IQC7H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2IR69E Noonan syndrome LD2F.15 Orphanet 648 TPD-2IR69E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2IR69E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2IR69E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2IR69E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2IR69E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2IR69E Lynch syndrome 2B90.Y Orphanet 144 TPD-2IR69E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2IR69E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2IUM4C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2IUM4C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2IUM4C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2IUM4C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2IZJ0N Kennedy disease 8B61.4 Orphanet 481 TPD-2IZJ0N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2IZJ0N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2IZJ0N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2IZVDJ Kennedy disease 8B61.4 Orphanet 481 TPD-2IZVDJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2IZVDJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2IZVDJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2J1ECP Noonan syndrome LD2F.15 Orphanet 648 TPD-2J1ECP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2J1ECP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2J1ECP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2J1ECP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2J1ECP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2J1ECP Lynch syndrome 2B90.Y Orphanet 144 TPD-2J1ECP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2J1ECP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2J2GQF Kennedy disease 8B61.4 Orphanet 481 TPD-2J2GQF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2J2GQF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2J2GQF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2J43RK Kennedy disease 8B61.4 Orphanet 481 TPD-2J43RK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2J43RK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2J43RK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JA1XV Kennedy disease 8B61.4 Orphanet 481 TPD-2JA1XV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2JA1XV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2JA1XV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JFBDJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2JFBDJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-2JFBDJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-2JFBDJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-2JFBDJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-2JFBDJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-2JFBDJ Semantic dementia 6D83 Orphanet 100069 TPD-2JFBDJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-2JJBJC Kennedy disease 8B61.4 Orphanet 481 TPD-2JJBJC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2JJBJC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2JJBJC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JK6HZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2JKGPV Kennedy disease 8B61.4 Orphanet 481 TPD-2JKGPV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2JKGPV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2JKGPV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JKSGQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2JKSGQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2JM681 Kennedy disease 8B61.4 Orphanet 481 TPD-2JM681 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2JM681 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2JM681 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JQ5MX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2JRPDR Noonan syndrome LD2F.15 Orphanet 648 TPD-2JRPDR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2JRPDR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2JRPDR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2JRPDR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2JRPDR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2JRPDR Lynch syndrome 2B90.Y Orphanet 144 TPD-2JRPDR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2JRPDR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2JTRNM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2JTRNM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2JVVRH Kennedy disease 8B61.4 Orphanet 481 TPD-2JVVRH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2JVVRH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2JVVRH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2JYEBQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2JYEBQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2JYEBQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2K8JE6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2K8JE6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2KBQQN Kennedy disease 8B61.4 Orphanet 481 TPD-2KBQQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2KBQQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2KBQQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2KBT4K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2KBT4K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2KF0I8 Noonan syndrome LD2F.15 Orphanet 648 TPD-2KF0I8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2KF0I8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2KF0I8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2KF0I8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2KF0I8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2KF0I8 Lynch syndrome 2B90.Y Orphanet 144 TPD-2KF0I8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2KF0I8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2KGUCW Familial melanoma QC61.Y Orphanet 618 TPD-2KGUCW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2KHBIQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2KITBN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2KITBN Wilson-Turner syndrome LD29 Orphanet 3459 TPD-2KMUZ5 Kennedy disease 8B61.4 Orphanet 481 TPD-2KMUZ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2KMUZ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2KMUZ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2KPKJP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2KPKJP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2KPKJP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2KPKJP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2KPPEQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2KPPEQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2KPPEQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2KVO1E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2KVO1E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2KVO1E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2KW4AP Noonan syndrome LD2F.15 Orphanet 648 TPD-2KW4AP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2KW4AP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2KW4AP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2KW4AP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2KW4AP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2KW4AP Lynch syndrome 2B90.Y Orphanet 144 TPD-2KW4AP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2KW4AP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2KZHNJ Kennedy disease 8B61.4 Orphanet 481 TPD-2KZHNJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2KZHNJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2KZHNJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2L1IKC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2L30IC Kennedy disease 8B61.4 Orphanet 481 TPD-2L30IC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2L30IC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2L30IC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2L65YG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-2L8WOK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2LBZSR Kennedy disease 8B61.4 Orphanet 481 TPD-2LBZSR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2LBZSR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2LBZSR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2LCNG6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2LCNG6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2LCNG6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2LG5SX Kennedy disease 8B61.4 Orphanet 481 TPD-2LG5SX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2LG5SX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2LG5SX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2LHN2P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2LHN2P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2LHSCL Laron syndrome with immunodeficiency 5A61.0 Orphanet 220465 TPD-2LHSCL Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-2LIS5U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2LIS5U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2LIS5U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2LJEQ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2LJEQ7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2LKCWL Noonan syndrome LD2F.15 Orphanet 648 TPD-2LKCWL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2LKCWL Metachondromatosis LD24.2Y Orphanet 2499 TPD-2LKCWL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2LOXI5 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2LOXI5 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2LPC1K Noonan syndrome LD2F.15 Orphanet 648 TPD-2LPC1K Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2LPC1K Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2LPC1K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2LPC1K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2LPC1K Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2LPC1K Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2LPC1K Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2LPC1K Craniopharyngioma 2F9A Orphanet 54595 TPD-2LPC1K Cushing disease 5A70.0 Orphanet 96253 TPD-2LPM3S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2LPM3S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2LPM3S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2LTC5K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2LTC5K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2LTC5K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2LTC5K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2LTSQS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2LTSQS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2LTSQS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2LU2WW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2LU2WW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2LV4FO Noonan syndrome LD2F.15 Orphanet 648 TPD-2LV4FO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2LV4FO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2LV4FO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2LV4FO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2LV4FO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2LV4FO Lynch syndrome 2B90.Y Orphanet 144 TPD-2LV4FO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2LV4FO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2LY2AR Noonan syndrome LD2F.15 Orphanet 648 TPD-2LY2AR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2LY2AR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2LY2AR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2LY2AR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2LY2AR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2LY2AR Lynch syndrome 2B90.Y Orphanet 144 TPD-2LY2AR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2LY2AR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2LYFHB Kennedy disease 8B61.4 Orphanet 481 TPD-2LYFHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2LYFHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2LYFHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2M0KZ5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2M0NTL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2M51CX Kennedy disease 8B61.4 Orphanet 481 TPD-2M51CX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2M51CX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2M51CX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2M6RI2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2M72WZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2MCSBY Familial melanoma QC61.Y Orphanet 618 TPD-2MCSBY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2MFR70 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2MFR70 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2MFR70 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2MFR70 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2MH2SI Kennedy disease 8B61.4 Orphanet 481 TPD-2MH2SI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2MH2SI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2MH2SI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2MMF0M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2MMF0M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2MMF0M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2MNUTY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2MNUTY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2MNUTY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2MOQLP Kennedy disease 8B61.4 Orphanet 481 TPD-2MOQLP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2MOQLP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2MOQLP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2MQZXJ Kennedy disease 8B61.4 Orphanet 481 TPD-2MQZXJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2MQZXJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2MQZXJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2MR0CZ Noonan syndrome LD2F.15 Orphanet 648 TPD-2MR0CZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2MR0CZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2MR0CZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2MR0CZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2MR0CZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2MR0CZ Lynch syndrome 2B90.Y Orphanet 144 TPD-2MR0CZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2MR0CZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2MR3ZD Noonan syndrome LD2F.15 Orphanet 648 TPD-2MR3ZD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2MR3ZD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2MR3ZD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2MR3ZD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2MR3ZD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2MR3ZD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2MR3ZD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2MR3ZD Craniopharyngioma 2F9A Orphanet 54595 TPD-2MR3ZD Cushing disease 5A70.0 Orphanet 96253 TPD-2MRZD2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2MRZD2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2MSHLZ Noonan syndrome LD2F.15 Orphanet 648 TPD-2MSHLZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2MSHLZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2MSHLZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2MSHLZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2MSHLZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2MSHLZ Lynch syndrome 2B90.Y Orphanet 144 TPD-2MSHLZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2MSHLZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2MUCZE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2MVJJN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2MVJJN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2MVJJN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2MW3S7 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-2MW3S7 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-2MW3S7 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-2MW3S7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2MW3S7 Neuroblastoma 2A00.11 Orphanet 635 TPD-2MW3S7 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-2MW3S7 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-2MW3S7 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-2MWN5U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2MWN5U Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2MWN5U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2MXH3D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2MXH3D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2MXH3D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2MYQF4 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2MYQF4 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2MZ9CA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2N0Q4Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2N0Q4Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2N0Q4Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2N0Q4Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2N1D7A Familial melanoma QC61.Y Orphanet 618 TPD-2N2A9H Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-2N2D6H Noonan syndrome LD2F.15 Orphanet 648 TPD-2N2D6H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2N2D6H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2N2D6H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2N2D6H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2N2D6H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2N2D6H Lynch syndrome 2B90.Y Orphanet 144 TPD-2N2D6H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2N2D6H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2NCJB6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2ND0WN Kennedy disease 8B61.4 Orphanet 481 TPD-2ND0WN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2ND0WN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2ND0WN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2ND9JM Noonan syndrome LD2F.15 Orphanet 648 TPD-2ND9JM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ND9JM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ND9JM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ND9JM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ND9JM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ND9JM Lynch syndrome 2B90.Y Orphanet 144 TPD-2ND9JM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ND9JM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2NDN7A Familial melanoma QC61.Y Orphanet 618 TPD-2NDN7A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2NFA2W Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2NFA2W Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2NHGJ7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2NHSR6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2NHWL9 Kennedy disease 8B61.4 Orphanet 481 TPD-2NHWL9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2NHWL9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2NHWL9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2NI4LH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2NI4LH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2NI4LH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2NKI63 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2NKI63 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2NL1UW Noonan syndrome LD2F.15 Orphanet 648 TPD-2NL1UW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2NL1UW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2NL1UW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2NL1UW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2NL1UW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2NL1UW Lynch syndrome 2B90.Y Orphanet 144 TPD-2NL1UW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2NL1UW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2NMDAB Kennedy disease 8B61.4 Orphanet 481 TPD-2NMDAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2NMDAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2NMDAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2NMK3C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2NQ14Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2NQ14Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2NQJ2K Noonan syndrome LD2F.15 Orphanet 648 TPD-2NQJ2K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2NQJ2K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2NQJ2K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2NQJ2K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2NQJ2K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2NQJ2K Lynch syndrome 2B90.Y Orphanet 144 TPD-2NQJ2K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2NQJ2K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2NTY54 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2NUT7S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2NXLPV Noonan syndrome LD2F.15 Orphanet 648 TPD-2NXLPV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2NXLPV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2NXLPV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2NXLPV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2NXLPV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2NXLPV Lynch syndrome 2B90.Y Orphanet 144 TPD-2NXLPV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2NXLPV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2O2VSU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2O2VSU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2O5541 Familial melanoma QC61.Y Orphanet 618 TPD-2O5541 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2O59X5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2O602B Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2O602B Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2O7YLO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2O7YLO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2OFZYH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2OIS7P Kennedy disease 8B61.4 Orphanet 481 TPD-2OIS7P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2OIS7P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2OIS7P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2OIUY4 Noonan syndrome LD2F.15 Orphanet 648 TPD-2OIUY4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2OIUY4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2OIUY4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2OIUY4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2OIUY4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2OIUY4 Lynch syndrome 2B90.Y Orphanet 144 TPD-2OIUY4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2OIUY4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2OLST6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2OLZF0 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-2OLZF0 Orofaciodigital syndrome type 2 LD25.00 Orphanet 2751 TPD-2OLZF0 Short rib-polydactyly syndrome, Majewski type LD24.B0 Orphanet 93269 TPD-2OLZF0 Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-2OLZF0 Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-2OLZF0 X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-2OLZF0 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-2OLZF0 Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-2OPF11 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2OPF11 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2OPF11 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2OQ13N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2OUMB8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2OUMB8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2OUMB8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2OXQM9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2OXQM9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2P08EK Duane retraction syndrome 9C82.2 Orphanet 233 TPD-2P08EK Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-2P08EK Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-2P08EK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2P1LL3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2P1LL3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2P2Q9E Familial melanoma QC61.Y Orphanet 618 TPD-2P2Q9E Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2P2Y10 Familial melanoma QC61.Y Orphanet 618 TPD-2P2Y10 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2P6V7X Kennedy disease 8B61.4 Orphanet 481 TPD-2P6V7X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2P6V7X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2P6V7X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2P8H6R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2P8H6R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2P9XGV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2PAKBN Kennedy disease 8B61.4 Orphanet 481 TPD-2PAKBN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2PAKBN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2PAKBN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2PB2PD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2PECV5 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-2PECV5 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-2PECV5 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-2PFK0Z Kennedy disease 8B61.4 Orphanet 481 TPD-2PFK0Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2PFK0Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2PFK0Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2PHCI0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2PHCI0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2PHCI0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2PI1N0 Noonan syndrome LD2F.15 Orphanet 648 TPD-2PI1N0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2PI1N0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2PI1N0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2PI1N0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2PI1N0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2PI1N0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2PI1N0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2PI1N0 Craniopharyngioma 2F9A Orphanet 54595 TPD-2PI1N0 Cushing disease 5A70.0 Orphanet 96253 TPD-2PJ9SY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2PJ9SY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2PJY67 Familial melanoma QC61.Y Orphanet 618 TPD-2PJY67 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2PPUTK Kennedy disease 8B61.4 Orphanet 481 TPD-2PPUTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2PPUTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2PPUTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2PS6G1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2PS6G1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2PV4CM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2PVV3S X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2PVV3S Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2PXWME Noonan syndrome LD2F.15 Orphanet 648 TPD-2PXWME Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2PXWME Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2PXWME Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2PXWME Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2PXWME Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2PXWME Lynch syndrome 2B90.Y Orphanet 144 TPD-2PXWME Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2PXWME Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2PY9NR Kennedy disease 8B61.4 Orphanet 481 TPD-2PY9NR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2PY9NR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2PY9NR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2PYE4K Familial melanoma QC61.Y Orphanet 618 TPD-2PYE4K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2Q0SA8 Familial melanoma QC61.Y Orphanet 618 TPD-2Q0SA8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2Q4592 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-2Q50PB Kennedy disease 8B61.4 Orphanet 481 TPD-2Q50PB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Q50PB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Q50PB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2Q54GE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2Q54GE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2Q8TYV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2Q8UMJ Kennedy disease 8B61.4 Orphanet 481 TPD-2Q8UMJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Q8UMJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Q8UMJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2Q8V2Z Kennedy disease 8B61.4 Orphanet 481 TPD-2Q8V2Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Q8V2Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Q8V2Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2Q9NZ5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2Q9ULI Noonan syndrome LD2F.15 Orphanet 648 TPD-2Q9ULI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2Q9ULI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2Q9ULI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2Q9ULI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2Q9ULI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2Q9ULI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2Q9ULI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2Q9ULI Craniopharyngioma 2F9A Orphanet 54595 TPD-2Q9ULI Cushing disease 5A70.0 Orphanet 96253 TPD-2QH2WK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2QJ00I Familial melanoma QC61.Y Orphanet 618 TPD-2QJ00I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2QLITZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2QQS0U Kennedy disease 8B61.4 Orphanet 481 TPD-2QQS0U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2QQS0U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2QQS0U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2QS4QH Kennedy disease 8B61.4 Orphanet 481 TPD-2QS4QH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2QS4QH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2QS4QH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2QVHGR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2QXKZL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2QZKAF Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-2QZKAF Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-2R0QSK Noonan syndrome LD2F.15 Orphanet 648 TPD-2R0QSK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2R0QSK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2R0QSK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2R0QSK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2R0QSK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2R0QSK Lynch syndrome 2B90.Y Orphanet 144 TPD-2R0QSK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2R0QSK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2R1XZM Familial melanoma QC61.Y Orphanet 618 TPD-2R1XZM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2R2F0Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2R3DF6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2R3SQJ Noonan syndrome LD2F.15 Orphanet 648 TPD-2R3SQJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2R3SQJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2R3SQJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2R3SQJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2R3SQJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2R3SQJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2R3SQJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2R3SQJ Craniopharyngioma 2F9A Orphanet 54595 TPD-2R3SQJ Cushing disease 5A70.0 Orphanet 96253 TPD-2R8PV8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2RFBS5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2RFBS5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2RFBS5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2RFYN8 Noonan syndrome LD2F.15 Orphanet 648 TPD-2RFYN8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2RFYN8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2RFYN8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2RFYN8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2RFYN8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2RFYN8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2RFYN8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2RFYN8 Craniopharyngioma 2F9A Orphanet 54595 TPD-2RFYN8 Cushing disease 5A70.0 Orphanet 96253 TPD-2RMTMQ Noonan syndrome LD2F.15 Orphanet 648 TPD-2RMTMQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2RMTMQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2RMTMQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2RMTMQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2RMTMQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2RMTMQ Lynch syndrome 2B90.Y Orphanet 144 TPD-2RMTMQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2RMTMQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2RSL26 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2RSL26 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2RSL26 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2RU1RE Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-2RUVG1 Kennedy disease 8B61.4 Orphanet 481 TPD-2RUVG1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2RUVG1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2RUVG1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2RWAO5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2RWAO5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2RWAO5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2RY6JP Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-2RZ30Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2S4IEO Noonan syndrome LD2F.15 Orphanet 648 TPD-2S4IEO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2S4IEO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2S4IEO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2S4IEO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2S4IEO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2S4IEO Lynch syndrome 2B90.Y Orphanet 144 TPD-2S4IEO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2S4IEO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2S4QI4 Noonan syndrome LD2F.15 Orphanet 648 TPD-2S4QI4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2S4QI4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2S4QI4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2S4QI4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2S4QI4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2S4QI4 Lynch syndrome 2B90.Y Orphanet 144 TPD-2S4QI4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2S4QI4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2S5I99 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2S7DKD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2S8MOE Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-2S8MOE MODY 5A13.6 Orphanet 552 TPD-2S8MOE Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-2S8MOE Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LD24.3 Orphanet 93358 TPD-2S8MOE Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-2S8MOE Williams syndrome LD44.70 Orphanet 904 TPD-2S8MOE 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-2S8MOE 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-2S8MOE Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-2S8MOE Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-2S8MOE Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-2S8MOE X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-2S8MOE Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-2S8TZ8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2S938C Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2S9DK2 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2S9DK2 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2SA4KG Kennedy disease 8B61.4 Orphanet 481 TPD-2SA4KG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2SA4KG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2SA4KG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2SAVAW Kennedy disease 8B61.4 Orphanet 481 TPD-2SAVAW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2SAVAW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2SAVAW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2SFJRW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2SFJRW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2SFJRW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2SFJRW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2SFZB9 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-2SFZB9 MODY 5A13.6 Orphanet 552 TPD-2SFZB9 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-2SMSPO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2SMSPO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2SMSPO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2SNXC4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2SNXC4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2SSAJQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2SSAJQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2SSAJQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2SVLV0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2SYTLB Kennedy disease 8B61.4 Orphanet 481 TPD-2SYTLB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2SYTLB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2SYTLB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2SZHBJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2SZHBJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2T11L1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2T3QTR Noonan syndrome LD2F.15 Orphanet 648 TPD-2T3QTR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2T3QTR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2T3QTR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2T3QTR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2T3QTR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2T3QTR Lynch syndrome 2B90.Y Orphanet 144 TPD-2T3QTR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2T3QTR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2T8MZH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2T8MZH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2T8MZH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2T9UQ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-2T9UQ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2T9UQ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2T9UQ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2T9UQ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2T9UQ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2T9UQ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-2T9UQ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2T9UQ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2TCP1F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2TCP1F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2TCP1F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2TCP1F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2TCQ53 Kennedy disease 8B61.4 Orphanet 481 TPD-2TCQ53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2TCQ53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2TCQ53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2TD8FA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2TDISQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2TEM5C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2TEM5C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2TEM5C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2TG1MX Kennedy disease 8B61.4 Orphanet 481 TPD-2TG1MX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2TG1MX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2TG1MX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2TK7O6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2TK7O6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2TKEGI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-2TQYEL Kennedy disease 8B61.4 Orphanet 481 TPD-2TQYEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2TQYEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2TQYEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2TVRDO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2TVRDO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2TVRDO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2U0GZD Weaver syndrome LD2C Orphanet 3447 TPD-2U0MQB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2U0MQB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-2U0MQB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-2U0MQB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-2U0MQB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-2U0MQB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-2U0MQB Semantic dementia 6D83 Orphanet 100069 TPD-2U0MQB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-2U1002 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2U1002 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2U1002 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2U1002 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2U1FE9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2U1FE9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2U1FE9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2U24I4 Noonan syndrome LD2F.15 Orphanet 648 TPD-2U24I4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2U24I4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2U24I4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2U24I4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2U24I4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2U24I4 Lynch syndrome 2B90.Y Orphanet 144 TPD-2U24I4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2U24I4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2U5754 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2U5754 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2U5754 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2U5IQ7 Kennedy disease 8B61.4 Orphanet 481 TPD-2U5IQ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2U5IQ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2U5IQ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2U6ABM Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-2U6ABM Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-2U6LD0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2U6TD8 Kennedy disease 8B61.4 Orphanet 481 TPD-2U6TD8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2U6TD8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2U6TD8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2UA2QI Hirschsprung disease LB16.1 Orphanet 388 TPD-2UA2QI Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-2UA2QI Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-2UBFJL Kennedy disease 8B61.4 Orphanet 481 TPD-2UBFJL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2UBFJL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2UBFJL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2UBU1P Weaver syndrome LD2C Orphanet 3447 TPD-2UD7WK Kennedy disease 8B61.4 Orphanet 481 TPD-2UD7WK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2UD7WK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2UD7WK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2UEHKW Kennedy disease 8B61.4 Orphanet 481 TPD-2UEHKW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2UEHKW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2UEHKW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2UHP1Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2UIEQ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2UIEQ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2UIEQ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2UIEQ6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2UJMH4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2UMGL5 Noonan syndrome LD2F.15 Orphanet 648 TPD-2UMGL5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2UMGL5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2UMGL5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2UMGL5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2UMGL5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2UMGL5 Lynch syndrome 2B90.Y Orphanet 144 TPD-2UMGL5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2UMGL5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2UMNDI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2UN1RU Noonan syndrome LD2F.15 Orphanet 648 TPD-2UN1RU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2UN1RU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2UN1RU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2UN1RU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2UN1RU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2UN1RU Lynch syndrome 2B90.Y Orphanet 144 TPD-2UN1RU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2UN1RU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2UQSV7 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2UQSV7 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2UTCTU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2UTCTU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-2UTCTU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-2UTCTU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-2UTCTU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-2UTCTU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-2UTCTU Semantic dementia 6D83 Orphanet 100069 TPD-2UTCTU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-2UTXJE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2UV6UF Weaver syndrome LD2C Orphanet 3447 TPD-2UW5CV Noonan syndrome LD2F.15 Orphanet 648 TPD-2UW5CV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2UW5CV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2UW5CV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2UW5CV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2UW5CV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2UW5CV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2UW5CV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2UW5CV Craniopharyngioma 2F9A Orphanet 54595 TPD-2UW5CV Cushing disease 5A70.0 Orphanet 96253 TPD-2UWKAM Noonan syndrome LD2F.15 Orphanet 648 TPD-2UWKAM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-2UWUDE Noonan syndrome LD2F.15 Orphanet 648 TPD-2UWUDE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2UWUDE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2UWUDE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2UWUDE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2UWUDE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2UWUDE Lynch syndrome 2B90.Y Orphanet 144 TPD-2UWUDE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2UWUDE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2V1W4I Noonan syndrome LD2F.15 Orphanet 648 TPD-2V1W4I Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-2V51GW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2V79SF Kennedy disease 8B61.4 Orphanet 481 TPD-2V79SF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2V79SF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2V79SF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2V7OYO Noonan syndrome LD2F.15 Orphanet 648 TPD-2V7OYO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2V7OYO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2V7OYO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2V7OYO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2V7OYO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2V7OYO Lynch syndrome 2B90.Y Orphanet 144 TPD-2V7OYO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2V7OYO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2VG43V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2VG43V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2VG43V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2VHZJG Noonan syndrome LD2F.15 Orphanet 648 TPD-2VHZJG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2VHZJG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2VHZJG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2VHZJG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2VHZJG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2VHZJG Lynch syndrome 2B90.Y Orphanet 144 TPD-2VHZJG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2VHZJG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2VIMGK Weaver syndrome LD2C Orphanet 3447 TPD-2VK7RF Kennedy disease 8B61.4 Orphanet 481 TPD-2VK7RF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2VK7RF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2VK7RF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2VLM05 Kennedy disease 8B61.4 Orphanet 481 TPD-2VLM05 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2VLM05 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2VLM05 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2VNOA4 Kennedy disease 8B61.4 Orphanet 481 TPD-2VNOA4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2VNOA4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2VNOA4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2VQG7N Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-2VSQQC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2VTRKM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2VWTRU Kennedy disease 8B61.4 Orphanet 481 TPD-2VWTRU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2VWTRU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2VWTRU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2VZM6R Familial melanoma QC61.Y Orphanet 618 TPD-2W2UYB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2W44MU Kennedy disease 8B61.4 Orphanet 481 TPD-2W44MU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2W44MU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2W44MU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2W5WXD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2W5WXD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2W62GL Kennedy disease 8B61.4 Orphanet 481 TPD-2W62GL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2W62GL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2W62GL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2W6QNV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2W6QNV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2W6QNV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2W6QNV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2W8NRK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2W8NRK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2W8NRK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2WBU5N Noonan syndrome LD2F.15 Orphanet 648 TPD-2WBU5N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2WBU5N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2WBU5N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2WBU5N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2WBU5N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2WBU5N Lynch syndrome 2B90.Y Orphanet 144 TPD-2WBU5N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2WBU5N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2WC6JJ Noonan syndrome LD2F.15 Orphanet 648 TPD-2WC6JJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2WC6JJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2WC6JJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2WC6JJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2WC6JJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2WC6JJ Lynch syndrome 2B90.Y Orphanet 144 TPD-2WC6JJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2WC6JJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2WCI2S Familial melanoma QC61.Y Orphanet 618 TPD-2WCI2S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2WCXAG Kennedy disease 8B61.4 Orphanet 481 TPD-2WCXAG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2WCXAG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2WCXAG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2WG2EI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2WI0HQ Kennedy disease 8B61.4 Orphanet 481 TPD-2WI0HQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2WI0HQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2WI0HQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2WQF6K Familial melanoma QC61.Y Orphanet 618 TPD-2WRDE8 Vein of Galen aneurysmal malformation LA90.20 Orphanet 1053 TPD-2WRDE8 Meige disease BD93.0 Orphanet 90186 TPD-2WRDE8 Tetralogy of Fallot LA88.2 Orphanet 3303 TPD-2WV0JA Kennedy disease 8B61.4 Orphanet 481 TPD-2WV0JA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2WV0JA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2WV0JA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2WW4VR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2WW4ZT Familial melanoma QC61.Y Orphanet 618 TPD-2WW4ZT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2WZDRK Kennedy disease 8B61.4 Orphanet 481 TPD-2WZDRK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2WZDRK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2WZDRK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2WZWM5 Kennedy disease 8B61.4 Orphanet 481 TPD-2WZWM5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2WZWM5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2WZWM5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2X2B5T CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-2X3C8I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2X3Y1R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2X3Y1R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2X8LYV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2X8LYV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2X8LYV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2X8LYV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2XE3QX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2XE3QX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2XE3QX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2XE3QX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2XGJ9Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2XGJ9Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2XGJ9Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2XGJ9Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2XKUDL Kennedy disease 8B61.4 Orphanet 481 TPD-2XKUDL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2XKUDL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2XKUDL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2XLBFI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2XLBFI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2XLBFI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2XMJ6R Noonan syndrome LD2F.15 Orphanet 648 TPD-2XMJ6R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2XMJ6R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2XMJ6R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2XMJ6R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2XMJ6R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2XMJ6R Lynch syndrome 2B90.Y Orphanet 144 TPD-2XMJ6R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2XMJ6R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2XMUPC Noonan syndrome LD2F.15 Orphanet 648 TPD-2XMUPC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2XMUPC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2XMUPC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2XMUPC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2XMUPC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2XMUPC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2XMUPC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2XMUPC Craniopharyngioma 2F9A Orphanet 54595 TPD-2XMUPC Cushing disease 5A70.0 Orphanet 96253 TPD-2XMX5G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2XMX5G Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2XMX5G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2XMXAX Noonan syndrome LD2F.15 Orphanet 648 TPD-2XMXAX Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-2XOL10 Kennedy disease 8B61.4 Orphanet 481 TPD-2XOL10 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2XOL10 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2XOL10 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2XP3ER Kennedy disease 8B61.4 Orphanet 481 TPD-2XP3ER Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2XP3ER Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2XP3ER Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2XRNHN Noonan syndrome LD2F.15 Orphanet 648 TPD-2XRNHN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-2XRNHN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-2XRNHN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2XRNHN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2XRNHN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-2XRNHN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-2XRNHN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-2XRNHN Craniopharyngioma 2F9A Orphanet 54595 TPD-2XRNHN Cushing disease 5A70.0 Orphanet 96253 TPD-2XT5WJ Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-2XU25I Familial melanoma QC61.Y Orphanet 618 TPD-2XU25I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-2XUEI2 Kennedy disease 8B61.4 Orphanet 481 TPD-2XUEI2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2XUEI2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2XUEI2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2XUHH2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-2XUHH2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-2XUHH2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-2XUHH2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-2XUHH2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-2XUHH2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-2XUHH2 Semantic dementia 6D83 Orphanet 100069 TPD-2XUHH2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-2XVU79 Kennedy disease 8B61.4 Orphanet 481 TPD-2XVU79 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2XVU79 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2XVU79 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2XWAEG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2XX431 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2XX431 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2Y4C94 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2Y4C94 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2Y4C94 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2Y55R2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2Y55R2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2Y7XAW Kennedy disease 8B61.4 Orphanet 481 TPD-2Y7XAW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Y7XAW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Y7XAW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2YAFRR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-2YAFRR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-2YAMGE Kennedy disease 8B61.4 Orphanet 481 TPD-2YAMGE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2YAMGE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2YAMGE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2YDAQL Noonan syndrome LD2F.15 Orphanet 648 TPD-2YDAQL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2YDAQL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2YDAQL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2YDAQL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2YDAQL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2YDAQL Lynch syndrome 2B90.Y Orphanet 144 TPD-2YDAQL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2YDAQL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2YE7UA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2YE7UA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2YH00J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2YH00J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2YH00J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2YK4E3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2YK4E3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2YK4E3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2YKC9C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2YKC9C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2YRKDM Kennedy disease 8B61.4 Orphanet 481 TPD-2YRKDM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2YRKDM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2YRKDM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2YTCI3 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-2YUTN9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-2YUTN9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-2YWAUX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2YWAUX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2YWAUX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2YZNY1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-2Z1T3V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2Z1T3V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2Z3NCT Kennedy disease 8B61.4 Orphanet 481 TPD-2Z3NCT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Z3NCT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Z3NCT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2Z6ASM Kennedy disease 8B61.4 Orphanet 481 TPD-2Z6ASM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2Z6ASM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2Z6ASM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-2Z73GM Noonan syndrome LD2F.15 Orphanet 648 TPD-2Z73GM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2Z73GM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2Z73GM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2Z73GM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2Z73GM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2Z73GM Lynch syndrome 2B90.Y Orphanet 144 TPD-2Z73GM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2Z73GM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2Z9Y34 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2Z9Y34 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2Z9Y34 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2Z9Y34 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2ZEIDR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2ZEIDR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2ZEIDR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2ZEIDR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2ZETZ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-2ZETZ3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ZETZ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ZETZ3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ZETZ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ZETZ3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ZETZ3 Lynch syndrome 2B90.Y Orphanet 144 TPD-2ZETZ3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ZETZ3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2ZG7WS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-2ZG7WS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-2ZG7WS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-2ZGS0W Noonan syndrome LD2F.15 Orphanet 648 TPD-2ZGS0W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ZGS0W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ZGS0W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ZGS0W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ZGS0W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ZGS0W Lynch syndrome 2B90.Y Orphanet 144 TPD-2ZGS0W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ZGS0W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2ZGTZT Noonan syndrome LD2F.15 Orphanet 648 TPD-2ZGTZT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ZGTZT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ZGTZT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ZGTZT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ZGTZT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ZGTZT Lynch syndrome 2B90.Y Orphanet 144 TPD-2ZGTZT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ZGTZT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2ZH8RV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2ZH8RV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2ZH8RV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2ZH8RV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2ZMHVA Noonan syndrome LD2F.15 Orphanet 648 TPD-2ZMHVA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ZMHVA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ZMHVA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ZMHVA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ZMHVA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ZMHVA Lynch syndrome 2B90.Y Orphanet 144 TPD-2ZMHVA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ZMHVA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2ZNJLR Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-2ZNJLR Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-2ZNJLR Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-2ZNJLR Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-2ZNJLR Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-2ZNJLR Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-2ZNJLR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2ZNJLR Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-2ZNJLR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-2ZR7RD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-2ZR7RD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-2ZR7RD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-2ZR7RD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-2ZVEEG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-2ZWYTW Noonan syndrome LD2F.15 Orphanet 648 TPD-2ZWYTW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-2ZWYTW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-2ZWYTW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-2ZWYTW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2ZWYTW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-2ZWYTW Lynch syndrome 2B90.Y Orphanet 144 TPD-2ZWYTW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-2ZWYTW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-2ZXBBK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2ZXBBK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2ZXBBK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2ZYEKB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-2ZYEKB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-2ZYEKB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-2ZZX4K Kennedy disease 8B61.4 Orphanet 481 TPD-2ZZX4K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-2ZZX4K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-2ZZX4K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3030LX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3030LX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3030LX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3030LX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3037X8 Weaver syndrome LD2C Orphanet 3447 TPD-303DKS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-303DKS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-303DKS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-303DKS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-306HG1 Kennedy disease 8B61.4 Orphanet 481 TPD-306HG1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-306HG1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-306HG1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-306Z1J Kennedy disease 8B61.4 Orphanet 481 TPD-306Z1J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-306Z1J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-306Z1J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-308UO9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-309T50 Noonan syndrome LD2F.15 Orphanet 648 TPD-309T50 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-309T50 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-309T50 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-309T50 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-309T50 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-309T50 Lynch syndrome 2B90.Y Orphanet 144 TPD-309T50 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-309T50 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-30D54E Cystic fibrosis CA25 Orphanet 586 TPD-30D54E Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-30E7JR Noonan syndrome LD2F.15 Orphanet 648 TPD-30E7JR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-30E7JR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-30E7JR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-30E7JR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-30E7JR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-30E7JR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-30E7JR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-30E7JR Craniopharyngioma 2F9A Orphanet 54595 TPD-30E7JR Cushing disease 5A70.0 Orphanet 96253 TPD-30EXIJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-30EXIJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-30EXIJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-30EXIJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-30EXIJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-30EXIJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-30EXIJ Semantic dementia 6D83 Orphanet 100069 TPD-30EXIJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-30GW0O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-30IX01 Noonan syndrome LD2F.15 Orphanet 648 TPD-30IX01 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-30IX01 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-30IX01 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-30IX01 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-30IX01 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-30IX01 Lynch syndrome 2B90.Y Orphanet 144 TPD-30IX01 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-30IX01 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-30LQON Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-30LQON Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-30LQON B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-30LQON B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-30NFPF Kennedy disease 8B61.4 Orphanet 481 TPD-30NFPF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-30NFPF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-30NFPF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-30OW2B Familial melanoma QC61.Y Orphanet 618 TPD-30OYE9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-30OYE9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-30VVED Estrogen resistance syndrome 5A90 Orphanet 785 TPD-30WX96 Noonan syndrome LD2F.15 Orphanet 648 TPD-30WX96 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-30WX96 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-30WX96 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-30WX96 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-30WX96 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-30WX96 Lynch syndrome 2B90.Y Orphanet 144 TPD-30WX96 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-30WX96 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-30WY6C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-30WY6C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-30XMQ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-30XMQ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-30XMQ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-30XMQ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-30XMQ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-30XMQ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-30XMQ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-30XMQ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-30XMQ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-30Z5CI Kennedy disease 8B61.4 Orphanet 481 TPD-30Z5CI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-30Z5CI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-30Z5CI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-30Z60L Kennedy disease 8B61.4 Orphanet 481 TPD-30Z60L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-30Z60L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-30Z60L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-313L9V Kennedy disease 8B61.4 Orphanet 481 TPD-313L9V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-313L9V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-313L9V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-314NB7 Noonan syndrome LD2F.15 Orphanet 648 TPD-314NB7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-314NB7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-314NB7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-314NB7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-314NB7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-314NB7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-314NB7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-314NB7 Craniopharyngioma 2F9A Orphanet 54595 TPD-314NB7 Cushing disease 5A70.0 Orphanet 96253 TPD-316CYO Kennedy disease 8B61.4 Orphanet 481 TPD-316CYO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-316CYO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-316CYO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-317WXW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-317WXW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-31A8QH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-31B55T Kennedy disease 8B61.4 Orphanet 481 TPD-31B55T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-31B55T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-31B55T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-31BABS Kennedy disease 8B61.4 Orphanet 481 TPD-31BABS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-31BABS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-31BABS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-31D3JC Familial melanoma QC61.Y Orphanet 618 TPD-31D3JC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-31H1BX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-31H1BX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-31JX2D Noonan syndrome LD2F.15 Orphanet 648 TPD-31JX2D Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-31KBDB Kennedy disease 8B61.4 Orphanet 481 TPD-31KBDB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-31KBDB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-31KBDB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-31LHRD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-31LHRD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-31MSWP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-31MSWP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-31MSWP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-31TU8Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-31VGSA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-31VQWN Kennedy disease 8B61.4 Orphanet 481 TPD-31VQWN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-31VQWN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-31VQWN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-31WA0N Familial melanoma QC61.Y Orphanet 618 TPD-31WA0N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-31WJRY Kennedy disease 8B61.4 Orphanet 481 TPD-31WJRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-31WJRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-31WJRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-321JYB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-321JYB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-321RLT Kennedy disease 8B61.4 Orphanet 481 TPD-321RLT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-321RLT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-321RLT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-321XEF Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-321XEF Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-321XEF Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-321XEF Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-321XEF Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-321XEF Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-321XEF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-321XEF Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-321XEF Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-324LAX Familial melanoma QC61.Y Orphanet 618 TPD-324LAX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3277F7 Familial melanoma QC61.Y Orphanet 618 TPD-32838O Noonan syndrome LD2F.15 Orphanet 648 TPD-32838O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-32838O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-32838O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-32838O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-32838O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-32838O Lynch syndrome 2B90.Y Orphanet 144 TPD-32838O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-32838O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-328QS2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-32DKXU Noonan syndrome LD2F.15 Orphanet 648 TPD-32DKXU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-32DKXU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-32DKXU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-32DKXU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-32DKXU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-32DKXU Lynch syndrome 2B90.Y Orphanet 144 TPD-32DKXU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-32DKXU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-32JI55 Familial melanoma QC61.Y Orphanet 618 TPD-32JI55 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-32JKBN Noonan syndrome LD2F.15 Orphanet 648 TPD-32JKBN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-32JKBN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-32JKBN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-32JKBN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-32JKBN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-32JKBN Lynch syndrome 2B90.Y Orphanet 144 TPD-32JKBN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-32JKBN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-32JLQS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-32JLQS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-32LR5Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-32MBS8 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-32MBS8 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-32MBS8 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-32MBS8 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-32MBS8 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-32MBS8 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-32MBS8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-32MBS8 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-32MBS8 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-32N6GU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-32N6GU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-32N6GU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-32N6GU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-32OV2R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-32RR3J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-32RR3J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-32RR3J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-32T3YB Kennedy disease 8B61.4 Orphanet 481 TPD-32T3YB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-32T3YB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-32T3YB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-32V97H Kennedy disease 8B61.4 Orphanet 481 TPD-32V97H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-32V97H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-32V97H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-32VECR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-32VECR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-32Z097 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-32Z097 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-32Z097 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-32ZNMB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-331ZPA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-331ZPA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-331ZPA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-331ZPA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3325F7 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-3325F7 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-3325F7 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-333E8M Noonan syndrome LD2F.15 Orphanet 648 TPD-333E8M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-333E8M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-333E8M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-333E8M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-333E8M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-333E8M Lynch syndrome 2B90.Y Orphanet 144 TPD-333E8M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-333E8M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-335FND Cystic fibrosis CA25 Orphanet 586 TPD-335FND Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-3397US Kennedy disease 8B61.4 Orphanet 481 TPD-3397US Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3397US Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3397US Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-33AALU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-33AALU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-33JSKF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-33JSKF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-33MZWY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-33NYNV Kennedy disease 8B61.4 Orphanet 481 TPD-33NYNV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-33NYNV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-33NYNV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-33OJEL Noonan syndrome LD2F.15 Orphanet 648 TPD-33OJEL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-33OJEL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-33OJEL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-33OJEL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-33OJEL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-33OJEL Lynch syndrome 2B90.Y Orphanet 144 TPD-33OJEL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-33OJEL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-33OQRA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-33QRW7 Kennedy disease 8B61.4 Orphanet 481 TPD-33QRW7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-33QRW7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-33QRW7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-33RYXD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-33SUAA Kennedy disease 8B61.4 Orphanet 481 TPD-33SUAA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-33SUAA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-33SUAA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-33VX2X Familial melanoma QC61.Y Orphanet 618 TPD-33VX2X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-33WLNQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-33WLNQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-33Y1SY Kennedy disease 8B61.4 Orphanet 481 TPD-33Y1SY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-33Y1SY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-33Y1SY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-33ZI24 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-33ZI24 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-33ZI24 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-340DM1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-340DM1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-342J7E Noonan syndrome LD2F.15 Orphanet 648 TPD-342J7E Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-342Z3Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3433P6 Familial melanoma QC61.Y Orphanet 618 TPD-3433P6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3444DJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3444DJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3444DJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3444DJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-34IDI9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-34IDI9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-34IDI9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-34IRDR Kennedy disease 8B61.4 Orphanet 481 TPD-34IRDR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-34IRDR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-34IRDR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-34JM84 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-34JM84 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-34JM84 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-34Q16N Kennedy disease 8B61.4 Orphanet 481 TPD-34Q16N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-34Q16N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-34Q16N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-34TXOP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-34TXOP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-34UAM2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-34UAM2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-34UAM2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-34WXS1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-34WXS1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3505DC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3505DC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3505DC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-351RMC Familial melanoma QC61.Y Orphanet 618 TPD-3528SC Kennedy disease 8B61.4 Orphanet 481 TPD-3528SC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3528SC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3528SC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3538GF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3538GF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3538GF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3538GF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-35BTGQ Kennedy disease 8B61.4 Orphanet 481 TPD-35BTGQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-35BTGQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-35BTGQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-35DUVL Kennedy disease 8B61.4 Orphanet 481 TPD-35DUVL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-35DUVL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-35DUVL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-35H4O3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-35H4O3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-35H4O3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-35O6IF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-35RXX7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-35SKA0 Noonan syndrome LD2F.15 Orphanet 648 TPD-35SKA0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-35SKA0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-35SKA0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-35SKA0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-35SKA0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-35SKA0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-35SKA0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-35SKA0 Craniopharyngioma 2F9A Orphanet 54595 TPD-35SKA0 Cushing disease 5A70.0 Orphanet 96253 TPD-362CDP Kennedy disease 8B61.4 Orphanet 481 TPD-362CDP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-362CDP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-362CDP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-36470U Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-36470U Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-36470U Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-36470U Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-36470U Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-36470U Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-36470U Semantic dementia 6D83 Orphanet 100069 TPD-36470U Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3649V5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-366O8K Noonan syndrome LD2F.15 Orphanet 648 TPD-366O8K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-366O8K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-366O8K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-366O8K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-366O8K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-366O8K Lynch syndrome 2B90.Y Orphanet 144 TPD-366O8K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-366O8K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-368GK6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-368GK6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3696YR Kennedy disease 8B61.4 Orphanet 481 TPD-3696YR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3696YR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3696YR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-36CUFO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-36CUFO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-36CUFO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-36CUFO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-36EG9Y Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-36H6KR Kennedy disease 8B61.4 Orphanet 481 TPD-36H6KR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-36H6KR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-36H6KR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-36IPH3 Noonan syndrome LD2F.15 Orphanet 648 TPD-36IPH3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-36IPH3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-36IPH3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-36IPH3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-36IPH3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-36IPH3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-36IPH3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-36IPH3 Craniopharyngioma 2F9A Orphanet 54595 TPD-36IPH3 Cushing disease 5A70.0 Orphanet 96253 TPD-36RIF2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-36RMF1 Familial melanoma QC61.Y Orphanet 618 TPD-36RMF1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-36TA33 Kennedy disease 8B61.4 Orphanet 481 TPD-36TA33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-36TA33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-36TA33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-36WE7O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-36WE7O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-36WE7O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-36YRCV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-36YRCV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-36YRCV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-36YRCV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-373P7V Noonan syndrome LD2F.15 Orphanet 648 TPD-373P7V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-373P7V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-373P7V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-373P7V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-373P7V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-373P7V Lynch syndrome 2B90.Y Orphanet 144 TPD-373P7V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-373P7V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3754PX Noonan syndrome LD2F.15 Orphanet 648 TPD-3754PX Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-37DH4K Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-37DSFB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-37DSFB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-37FW84 Kennedy disease 8B61.4 Orphanet 481 TPD-37FW84 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-37FW84 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-37FW84 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-37HS0R Kennedy disease 8B61.4 Orphanet 481 TPD-37HS0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-37HS0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-37HS0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-37J1DT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-37J1DT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-37JB4E Kennedy disease 8B61.4 Orphanet 481 TPD-37JB4E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-37JB4E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-37JB4E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-37JDST Kennedy disease 8B61.4 Orphanet 481 TPD-37JDST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-37JDST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-37JDST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-37OHP0 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-37SF74 Noonan syndrome LD2F.15 Orphanet 648 TPD-37SF74 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-37SF74 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-37SF74 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-37SF74 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-37SF74 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-37SF74 Lynch syndrome 2B90.Y Orphanet 144 TPD-37SF74 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-37SF74 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-37V6GX Kennedy disease 8B61.4 Orphanet 481 TPD-37V6GX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-37V6GX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-37V6GX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-37VY8C Noonan syndrome LD2F.15 Orphanet 648 TPD-37VY8C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-37VY8C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-37VY8C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-37VY8C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-37VY8C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-37VY8C Lynch syndrome 2B90.Y Orphanet 144 TPD-37VY8C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-37VY8C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-37WNWY Noonan syndrome LD2F.15 Orphanet 648 TPD-37WNWY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-37WNWY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-37WNWY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-37WNWY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-37WNWY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-37WNWY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-37WNWY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-37WNWY Craniopharyngioma 2F9A Orphanet 54595 TPD-37WNWY Cushing disease 5A70.0 Orphanet 96253 TPD-37ZMKK Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-380FXO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-380FXO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-380FXO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-383RWI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-386PPX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3870VB Kennedy disease 8B61.4 Orphanet 481 TPD-3870VB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3870VB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3870VB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-387CY9 Kennedy disease 8B61.4 Orphanet 481 TPD-387CY9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-387CY9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-387CY9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-388BM1 Kennedy disease 8B61.4 Orphanet 481 TPD-388BM1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-388BM1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-388BM1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-388RN5 Noonan syndrome LD2F.15 Orphanet 648 TPD-388RN5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-388RN5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-388RN5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-388RN5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-388RN5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-388RN5 Lynch syndrome 2B90.Y Orphanet 144 TPD-388RN5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-388RN5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-38AFGT Familial melanoma QC61.Y Orphanet 618 TPD-38AFGT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-38BA3J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-38DQMS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-38DQMS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-38DQMS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-38DQMS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-38JSXD Noonan syndrome LD2F.15 Orphanet 648 TPD-38JSXD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-38JSXD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-38JSXD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-38JSXD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-38JSXD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-38JSXD Lynch syndrome 2B90.Y Orphanet 144 TPD-38JSXD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-38JSXD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-38KNH2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-38LJLX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-38LJLX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-38LJLX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-38LKWK Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-38LKWK Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-38LKWK Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-38LKWK Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-38LKWK Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-38LKWK Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-38LKWK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-38LKWK Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-38LKWK Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-38OJUE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-38OJUE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-38OJUE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-38RUGX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-38RUGX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-38SLS6 Noonan syndrome LD2F.15 Orphanet 648 TPD-38SLS6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-38SLS6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-38SLS6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-38SLS6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-38SLS6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-38SLS6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-38SLS6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-38SLS6 Craniopharyngioma 2F9A Orphanet 54595 TPD-38SLS6 Cushing disease 5A70.0 Orphanet 96253 TPD-38TUF9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-38Y2LV Kennedy disease 8B61.4 Orphanet 481 TPD-38Y2LV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-38Y2LV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-38Y2LV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-38ZHLN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-391KD4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-391KD4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-391KD4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-395LNF Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-395LNF Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-395LNF Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-39E7TI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-39E7TI Neuroblastoma 2A00.11 Orphanet 635 TPD-39E7TI Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-39E7TI ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-39E7TI ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-39EX3A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-39FWU1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-39FWU1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-39HCP1 Kennedy disease 8B61.4 Orphanet 481 TPD-39HCP1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-39HCP1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-39HCP1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-39MCNC Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-39MCNC Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-39MCNC Primary myelofibrosis 2A20.2 Orphanet 824 TPD-39MCNC Polycythemia vera 2A20.4 Orphanet 729 TPD-39MCNC Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-39MCNC Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-39NPVX Burkitt lymphoma XH4KA9 Orphanet 543 TPD-39NPVX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-39NPVX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-39PZMU Kennedy disease 8B61.4 Orphanet 481 TPD-39PZMU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-39PZMU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-39PZMU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-39Q6M4 Noonan syndrome LD2F.15 Orphanet 648 TPD-39Q6M4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-39Q6M4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-39Q6M4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-39Q6M4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-39Q6M4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-39Q6M4 Lynch syndrome 2B90.Y Orphanet 144 TPD-39Q6M4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-39Q6M4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-39QOSO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-39QOSO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-39QOSO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-39QOSO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-39R054 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-39R054 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-39R054 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-39UV8T Kennedy disease 8B61.4 Orphanet 481 TPD-39UV8T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-39UV8T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-39UV8T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-39VLK3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-39XTD6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-39XTD6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3A1GTX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3A4UXW Noonan syndrome LD2F.15 Orphanet 648 TPD-3A4UXW Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3A4Z9D Kennedy disease 8B61.4 Orphanet 481 TPD-3A4Z9D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3A4Z9D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3A4Z9D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3A5JVW Kennedy disease 8B61.4 Orphanet 481 TPD-3A5JVW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3A5JVW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3A5JVW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3A6AZW Familial melanoma QC61.Y Orphanet 618 TPD-3A71MB Kennedy disease 8B61.4 Orphanet 481 TPD-3A71MB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3A71MB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3A71MB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3A74YZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3A74YZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3A74YZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3A74YZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3A7LAV Noonan syndrome LD2F.15 Orphanet 648 TPD-3A7LAV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3ABZG4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3ABZG4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3ABZG4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3ABZG4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3ADSJB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3AH2MN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3AH2MN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3AH2MN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3AIJG8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3AOF8A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3AOF8A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3AQC0D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3AQC0D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3ARBM2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3ARBM2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3ARBM2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3AZYVR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3AZYVR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3AZYVR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3AZYVR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3B28BG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3B28BG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3BE5HP Noonan syndrome LD2F.15 Orphanet 648 TPD-3BE5HP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3BE5HP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3BE5HP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3BE5HP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3BE5HP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3BE5HP Lynch syndrome 2B90.Y Orphanet 144 TPD-3BE5HP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3BE5HP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3BEUDD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3BEUDD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3BEUDD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3BHGVV Noonan syndrome LD2F.15 Orphanet 648 TPD-3BHGVV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3BHGVV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3BHGVV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3BHGVV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3BHGVV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3BHGVV Lynch syndrome 2B90.Y Orphanet 144 TPD-3BHGVV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3BHGVV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3BIJH7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-3BK4TG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3BK4TG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3BK4TG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3BLCKD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3BLCKD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3BLCKD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3BLCKD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3BMOUW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3BMOUW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3BO1B4 Noonan syndrome LD2F.15 Orphanet 648 TPD-3BO1B4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3BO1B4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3BO1B4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3BO1B4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3BO1B4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3BO1B4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3BO1B4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3BO1B4 Craniopharyngioma 2F9A Orphanet 54595 TPD-3BO1B4 Cushing disease 5A70.0 Orphanet 96253 TPD-3BP977 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3BP977 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3BP977 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3BQ6XL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3BRCEL Kennedy disease 8B61.4 Orphanet 481 TPD-3BRCEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3BRCEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3BRCEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3BRPMN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3BRPMN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3BS4N7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3C0TU3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3C6WH0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3C6WH0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3C6WH0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3C6WH0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3C8CI0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3C8CI0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3CFZOH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3CFZOH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3CG5MS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3CH8Q6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3CH8Q6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3CH8Q6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3CH8Q6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3CMALM Noonan syndrome LD2F.15 Orphanet 648 TPD-3CMALM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3CMALM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3CMALM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3CMALM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3CMALM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3CMALM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3CMALM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3CMALM Craniopharyngioma 2F9A Orphanet 54595 TPD-3CMALM Cushing disease 5A70.0 Orphanet 96253 TPD-3CO3HH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3CPBB6 Noonan syndrome LD2F.15 Orphanet 648 TPD-3CPBB6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3CPBB6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3CPBB6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3CPBB6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3CPBB6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3CPBB6 Lynch syndrome 2B90.Y Orphanet 144 TPD-3CPBB6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3CPBB6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3CQ6ER Familial melanoma QC61.Y Orphanet 618 TPD-3CQ6ER Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3CQN34 Kennedy disease 8B61.4 Orphanet 481 TPD-3CQN34 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3CQN34 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3CQN34 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3CQP0I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3CQP0I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3CQWSP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3CR95Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3CR95Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3CR95Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3CT57L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3CT57L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3CT57L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3CUGE2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3CUGE2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3CYAL2 Noonan syndrome LD2F.15 Orphanet 648 TPD-3CYAL2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3CYAL2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3CYAL2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3CYAL2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3CYAL2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3CYAL2 Lynch syndrome 2B90.Y Orphanet 144 TPD-3CYAL2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3CYAL2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3D16PI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3D2AWV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3D7Z65 Familial melanoma QC61.Y Orphanet 618 TPD-3D7Z65 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3DAE1P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3DAE1P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3DAE1P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3DCRPL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3DFUJ0 Kennedy disease 8B61.4 Orphanet 481 TPD-3DFUJ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3DFUJ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3DFUJ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3DH16K Familial melanoma QC61.Y Orphanet 618 TPD-3DH16K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3DJYEW Kennedy disease 8B61.4 Orphanet 481 TPD-3DJYEW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3DJYEW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3DJYEW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3DJYL5 Kennedy disease 8B61.4 Orphanet 481 TPD-3DJYL5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3DJYL5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3DJYL5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3DKFS6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3DKFS6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3DNV9I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3DNV9I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3DP63R Familial melanoma QC61.Y Orphanet 618 TPD-3DP63R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3DWONN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3DWONN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3DWONN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3DWW17 Noonan syndrome LD2F.15 Orphanet 648 TPD-3DWW17 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3DWW17 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3DWW17 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3DWW17 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3DWW17 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3DWW17 Lynch syndrome 2B90.Y Orphanet 144 TPD-3DWW17 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3DWW17 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3DXNQ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-3DXNQ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3DXNQ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3DXNQ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3DXNQ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3DXNQ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3DXNQ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-3DXNQ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3DXNQ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3DZ0VS Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-3DZ14B Kennedy disease 8B61.4 Orphanet 481 TPD-3DZ14B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3DZ14B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3DZ14B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3E5QB0 Noonan syndrome LD2F.15 Orphanet 648 TPD-3E5QB0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3E5QB0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3E5QB0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3E5QB0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3E5QB0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3E5QB0 Lynch syndrome 2B90.Y Orphanet 144 TPD-3E5QB0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3E5QB0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3E5SF7 Kennedy disease 8B61.4 Orphanet 481 TPD-3E5SF7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3E5SF7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3E5SF7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3E8CIR Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-3EDML8 Noonan syndrome LD2F.15 Orphanet 648 TPD-3EDML8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3EDML8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3EDML8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3EDML8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3EDML8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3EDML8 Lynch syndrome 2B90.Y Orphanet 144 TPD-3EDML8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3EDML8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3EDPL2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3EFS4J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3EIU43 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3ELN8I Noonan syndrome LD2F.15 Orphanet 648 TPD-3ELN8I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3ELN8I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3ELN8I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3ELN8I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3ELN8I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3ELN8I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3ELN8I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3ELN8I Craniopharyngioma 2F9A Orphanet 54595 TPD-3ELN8I Cushing disease 5A70.0 Orphanet 96253 TPD-3EMNAP Kennedy disease 8B61.4 Orphanet 481 TPD-3EMNAP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3EMNAP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3EMNAP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3EPVEQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3EPVEQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3ET4EB Kennedy disease 8B61.4 Orphanet 481 TPD-3ET4EB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3ET4EB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3ET4EB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3EUX7I Kennedy disease 8B61.4 Orphanet 481 TPD-3EUX7I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3EUX7I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3EUX7I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3EW600 Noonan syndrome LD2F.15 Orphanet 648 TPD-3EW600 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3EW600 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3EW600 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3EW600 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3EW600 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3EW600 Lynch syndrome 2B90.Y Orphanet 144 TPD-3EW600 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3EW600 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3EX1KW Noonan syndrome LD2F.15 Orphanet 648 TPD-3EX1KW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3EX1KW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3EX1KW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3EX1KW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3EX1KW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3EX1KW Lynch syndrome 2B90.Y Orphanet 144 TPD-3EX1KW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3EX1KW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3EYZK9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3EYZK9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3EZ494 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3EZ494 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3EZ494 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3EZS78 Kennedy disease 8B61.4 Orphanet 481 TPD-3EZS78 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3EZS78 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3EZS78 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3F1R48 Kennedy disease 8B61.4 Orphanet 481 TPD-3F1R48 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3F1R48 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3F1R48 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3F1Y8E Noonan syndrome LD2F.15 Orphanet 648 TPD-3F1Y8E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3F1Y8E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3F1Y8E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3F1Y8E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3F1Y8E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3F1Y8E Lynch syndrome 2B90.Y Orphanet 144 TPD-3F1Y8E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3F1Y8E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3F386C Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3F5865 Noonan syndrome LD2F.15 Orphanet 648 TPD-3F5865 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3F5865 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3F5865 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3F5865 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3F5865 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3F5865 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3F5865 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3F5865 Craniopharyngioma 2F9A Orphanet 54595 TPD-3F5865 Cushing disease 5A70.0 Orphanet 96253 TPD-3F71GC Noonan syndrome LD2F.15 Orphanet 648 TPD-3F71GC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3F71GC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3F71GC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3F71GC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3F71GC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3F71GC Lynch syndrome 2B90.Y Orphanet 144 TPD-3F71GC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3F71GC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3FAAO6 Kennedy disease 8B61.4 Orphanet 481 TPD-3FAAO6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3FAAO6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3FAAO6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3FC87C Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-3FC87C Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3FDLXK Kennedy disease 8B61.4 Orphanet 481 TPD-3FDLXK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3FDLXK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3FDLXK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3FHAC9 Noonan syndrome LD2F.15 Orphanet 648 TPD-3FHAC9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3FHAC9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3FHAC9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3FHAC9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3FHAC9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3FHAC9 Lynch syndrome 2B90.Y Orphanet 144 TPD-3FHAC9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3FHAC9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3FJMRY Kennedy disease 8B61.4 Orphanet 481 TPD-3FJMRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3FJMRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3FJMRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3FKZDS Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-3FMIN7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3FOU2V Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3FR75E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3FR75E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3FREBM Kennedy disease 8B61.4 Orphanet 481 TPD-3FREBM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3FREBM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3FREBM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3FRJLE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3FRJLE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3FRZT9 Kennedy disease 8B61.4 Orphanet 481 TPD-3FRZT9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3FRZT9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3FRZT9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3FW1SE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3FWHCA Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3FX0LB Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-3FX2QE Noonan syndrome LD2F.15 Orphanet 648 TPD-3FX2QE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3FX2QE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3FX2QE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3FX2QE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3FX2QE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3FX2QE Lynch syndrome 2B90.Y Orphanet 144 TPD-3FX2QE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3FX2QE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3FX649 Noonan syndrome LD2F.15 Orphanet 648 TPD-3FX649 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3FX649 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3FX649 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3FX649 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3FX649 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3FX649 Lynch syndrome 2B90.Y Orphanet 144 TPD-3FX649 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3FX649 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3FY2BE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3FY2BE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3FY2BE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3FY2BE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3FYI3N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3FYI3N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3G0PPV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3G2U7N Familial melanoma QC61.Y Orphanet 618 TPD-3G2U7N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3G41W9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3G41W9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3G41W9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3G41W9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3G4L1X Kennedy disease 8B61.4 Orphanet 481 TPD-3G4L1X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3G4L1X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3G4L1X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3G8N4S Noonan syndrome LD2F.15 Orphanet 648 TPD-3G8N4S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3G8N4S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3G8N4S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3G8N4S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3G8N4S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3G8N4S Lynch syndrome 2B90.Y Orphanet 144 TPD-3G8N4S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3G8N4S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3G9NYR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3G9NYR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3GBLOE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3GBLOE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3GBLOE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3GC8N8 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3GEQE5 Noonan syndrome LD2F.15 Orphanet 648 TPD-3GEQE5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3GEQE5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3GEQE5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3GEQE5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3GEQE5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3GEQE5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3GEQE5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3GEQE5 Craniopharyngioma 2F9A Orphanet 54595 TPD-3GEQE5 Cushing disease 5A70.0 Orphanet 96253 TPD-3GF1XR Familial melanoma QC61.Y Orphanet 618 TPD-3GF1XR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3GILJH Noonan syndrome LD2F.15 Orphanet 648 TPD-3GILJH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3GILJH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3GILJH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3GILJH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3GILJH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3GILJH Lynch syndrome 2B90.Y Orphanet 144 TPD-3GILJH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3GILJH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3GMSYH Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-3GOK2D Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3GOXEE Kennedy disease 8B61.4 Orphanet 481 TPD-3GOXEE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3GOXEE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3GOXEE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3GQL86 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3GRK8D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3GRK8D Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3GRK8D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3GS480 Familial melanoma QC61.Y Orphanet 618 TPD-3GS480 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3GUKW3 Noonan syndrome LD2F.15 Orphanet 648 TPD-3GUKW3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3GUKW3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3GUKW3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3GUKW3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3GUKW3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3GUKW3 Lynch syndrome 2B90.Y Orphanet 144 TPD-3GUKW3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3GUKW3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3GWR6Y Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-3H1BXU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3H1BXU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3H1BXU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3H1BXU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3HE207 Noonan syndrome LD2F.15 Orphanet 648 TPD-3HE207 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3HE207 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3HE207 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3HE207 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3HE207 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3HE207 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3HE207 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3HE207 Craniopharyngioma 2F9A Orphanet 54595 TPD-3HE207 Cushing disease 5A70.0 Orphanet 96253 TPD-3HKZES Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3HKZES Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3HKZES B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3HKZES B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3HLBZ3 Familial melanoma QC61.Y Orphanet 618 TPD-3HLBZ3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3HQIGE Kennedy disease 8B61.4 Orphanet 481 TPD-3HQIGE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3HQIGE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3HQIGE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3HR2Z5 Noonan syndrome LD2F.15 Orphanet 648 TPD-3HR2Z5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3HR2Z5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3HR2Z5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3HR2Z5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3HR2Z5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3HR2Z5 Lynch syndrome 2B90.Y Orphanet 144 TPD-3HR2Z5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3HR2Z5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3HVZU6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3HVZU6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3HVZU6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3HYCSO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3HYCSO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3HYCSO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3HZ92C Hirschsprung disease LB16.1 Orphanet 388 TPD-3HZ92C Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-3HZ92C Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-3I0UYH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-3I21CD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3I21CD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3I21CD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3I21CD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3I31EK Noonan syndrome LD2F.15 Orphanet 648 TPD-3I31EK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3I31EK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3I31EK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3I31EK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3I31EK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3I31EK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3I31EK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3I31EK Craniopharyngioma 2F9A Orphanet 54595 TPD-3I31EK Cushing disease 5A70.0 Orphanet 96253 TPD-3I4JNA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-3I4JNA Wilson-Turner syndrome LD29 Orphanet 3459 TPD-3I85QH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3I9GT2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3I9GT2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3I9GT2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3IA2VN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3IA2VN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3IBKF2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3IE4ZU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-3IE4ZU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3IE4ZU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3IE4ZU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3IE4ZU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3IE4ZU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3IE4ZU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3IE4ZU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3IE4ZU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-3IF61P Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3IF61P Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3IF61P Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3IF61P Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3IF61P Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3IF61P Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3IF61P Semantic dementia 6D83 Orphanet 100069 TPD-3IF61P Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3IG5YV Kennedy disease 8B61.4 Orphanet 481 TPD-3IG5YV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3IG5YV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3IG5YV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3IGCFN Familial melanoma QC61.Y Orphanet 618 TPD-3IGCFN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3IJ7K2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3IJ7K2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3IJ7K2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3IJFOZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3ILD8R Noonan syndrome LD2F.15 Orphanet 648 TPD-3ILD8R Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3ILD8R Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3ILD8R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3ILD8R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3ILD8R Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3ILD8R Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3ILD8R Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3ILD8R Craniopharyngioma 2F9A Orphanet 54595 TPD-3ILD8R Cushing disease 5A70.0 Orphanet 96253 TPD-3ILQ4O Noonan syndrome LD2F.15 Orphanet 648 TPD-3ILQ4O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3ILQ4O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3ILQ4O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3ILQ4O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3ILQ4O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3ILQ4O Lynch syndrome 2B90.Y Orphanet 144 TPD-3ILQ4O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3ILQ4O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3IMOYK Noonan syndrome LD2F.15 Orphanet 648 TPD-3IMOYK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3IMOYK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3IMOYK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3IMOYK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3IMOYK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3IMOYK Lynch syndrome 2B90.Y Orphanet 144 TPD-3IMOYK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3IMOYK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3IQVPH Noonan syndrome LD2F.15 Orphanet 648 TPD-3IQVPH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3IQVPH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3IQVPH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3IQVPH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3IQVPH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3IQVPH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3IQVPH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3IQVPH Craniopharyngioma 2F9A Orphanet 54595 TPD-3IQVPH Cushing disease 5A70.0 Orphanet 96253 TPD-3ISVAI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3ISVAI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3ISVAI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3ISVAI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3ISWAD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3ISWAD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3IWAFN Hirschsprung disease LB16.1 Orphanet 388 TPD-3IWAFN Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-3IWAFN Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-3IYJD6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3IYJD6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3IYJD6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3IYJD6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3J1IL7 Kennedy disease 8B61.4 Orphanet 481 TPD-3J1IL7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3J1IL7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3J1IL7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3J5XGV Noonan syndrome LD2F.15 Orphanet 648 TPD-3J5XGV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3J5XGV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3J5XGV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3J5XGV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3J5XGV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3J5XGV Lynch syndrome 2B90.Y Orphanet 144 TPD-3J5XGV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3J5XGV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3JBE6M Kennedy disease 8B61.4 Orphanet 481 TPD-3JBE6M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3JBE6M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3JBE6M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3JC22A Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-3JC22A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3JC22A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3JC22A Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-3JC22A Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-3JC22A Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-3JC22A Osteosarcoma 2B51 Orphanet 668 TPD-3JC22A Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-3JC22A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3JC22A Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-3JC22A Small cell lung cancer 2C25.1 Orphanet 70573 TPD-3JC22A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3JC22A Cushing disease 5A70.0 Orphanet 96253 TPD-3JC22A Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-3JC22A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3JCTR7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3JE28P Familial melanoma QC61.Y Orphanet 618 TPD-3JE28P Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3JF3PB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3JFF84 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3JFF84 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3JFF84 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3JKR2P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3JKR2P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3JNG6D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3JNG6D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3JNK0X Kennedy disease 8B61.4 Orphanet 481 TPD-3JNK0X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3JNK0X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3JNK0X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3JVBF8 Noonan syndrome LD2F.15 Orphanet 648 TPD-3JVBF8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3JVBF8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3JVBF8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3JVBF8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3JVBF8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3JVBF8 Lynch syndrome 2B90.Y Orphanet 144 TPD-3JVBF8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3JVBF8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3JWH7K Noonan syndrome LD2F.15 Orphanet 648 TPD-3JWH7K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3JWH7K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3JWH7K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3JWH7K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3JWH7K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3JWH7K Lynch syndrome 2B90.Y Orphanet 144 TPD-3JWH7K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3JWH7K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3JWNUY Noonan syndrome LD2F.15 Orphanet 648 TPD-3JWNUY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3JWNUY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3JWNUY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3JWNUY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3JWNUY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3JWNUY Lynch syndrome 2B90.Y Orphanet 144 TPD-3JWNUY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3JWNUY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3K46VR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3K93R9 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-3KCEVY Kennedy disease 8B61.4 Orphanet 481 TPD-3KCEVY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3KCEVY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3KCEVY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3KCYVJ Noonan syndrome LD2F.15 Orphanet 648 TPD-3KCYVJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3KCYVJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3KCYVJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3KCYVJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3KCYVJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3KCYVJ Lynch syndrome 2B90.Y Orphanet 144 TPD-3KCYVJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3KCYVJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3KD359 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3KD359 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3KD359 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3KEBGL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3KI59G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3KI59G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3KI59G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3KI59G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3KK4S0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3KK4S0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3KS3Q4 Kennedy disease 8B61.4 Orphanet 481 TPD-3KS3Q4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3KS3Q4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3KS3Q4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3KSC1A Noonan syndrome LD2F.15 Orphanet 648 TPD-3KSC1A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3KSC1A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3KSC1A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3KSC1A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3KSC1A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3KSC1A Lynch syndrome 2B90.Y Orphanet 144 TPD-3KSC1A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3KSC1A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3KV5FZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3KV5FZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3KV5FZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3KWDN9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3KWDN9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3L0BYX Kennedy disease 8B61.4 Orphanet 481 TPD-3L0BYX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3L0BYX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3L0BYX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3L3Q5S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3L3Q5S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3L3Q5S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3L7O6S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3L7O6S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3L7O6S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3L7O6S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3L9IGE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3L9IGE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3L9IGE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3LBR3Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3LBR3Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3LBR3Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3LBR3Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3LF03Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3LF03Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3LF03Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3LF3CD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3LH6TB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3LH6TB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3LID90 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3LID90 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3LID90 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3LID90 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3LM15Y Noonan syndrome LD2F.15 Orphanet 648 TPD-3LM15Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3LM15Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3LM15Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3LM15Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3LM15Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3LM15Y Lynch syndrome 2B90.Y Orphanet 144 TPD-3LM15Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3LM15Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3LM553 Familial melanoma QC61.Y Orphanet 618 TPD-3LM553 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3LNULQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3LSYPY Familial melanoma QC61.Y Orphanet 618 TPD-3LSYPY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3LUF53 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-3LWDRW Noonan syndrome LD2F.15 Orphanet 648 TPD-3LWDRW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3LWDRW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3LWDRW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3LWDRW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3LWDRW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3LWDRW Lynch syndrome 2B90.Y Orphanet 144 TPD-3LWDRW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3LWDRW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3LXFAR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3LXVGZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3LXVGZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3LXVGZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3LZ4OY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3LZ4OY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3LZ4OY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3M0W5V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3M0W5V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3M0W5V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3M0W5V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3M71HR Kennedy disease 8B61.4 Orphanet 481 TPD-3M71HR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3M71HR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3M71HR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3M9J3H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3MA0QB Noonan syndrome LD2F.15 Orphanet 648 TPD-3MA0QB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3MA0QB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3MA0QB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3MA0QB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3MA0QB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3MA0QB Lynch syndrome 2B90.Y Orphanet 144 TPD-3MA0QB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3MA0QB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3MA94O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3MB2KK Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-3MDJL5 Kennedy disease 8B61.4 Orphanet 481 TPD-3MDJL5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3MDJL5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3MDJL5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3MF73D Familial melanoma QC61.Y Orphanet 618 TPD-3MF73D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3MGHU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-3MGHU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3MGHU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3MGHU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3MGHU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3MGHU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3MGHU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-3MGHU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3MGHU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3MHUT1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3MJ2JS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3MJ2JS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3MJ2JS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3MOAUN Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-3MQF3U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3MQF3U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3MQF3U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3MQPLA Kennedy disease 8B61.4 Orphanet 481 TPD-3MQPLA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3MQPLA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3MQPLA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3MSZF4 Noonan syndrome LD2F.15 Orphanet 648 TPD-3MSZF4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3MSZF4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3MSZF4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3MSZF4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3MSZF4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3MSZF4 Lynch syndrome 2B90.Y Orphanet 144 TPD-3MSZF4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3MSZF4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3MTC2U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3MURLE Kennedy disease 8B61.4 Orphanet 481 TPD-3MURLE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3MURLE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3MURLE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3MWAEB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3MWAEB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3MWAEB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3MZM5Q Familial melanoma QC61.Y Orphanet 618 TPD-3N77SW Kennedy disease 8B61.4 Orphanet 481 TPD-3N77SW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3N77SW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3N77SW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3N8MQW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3N8MQW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3N9DMY Kennedy disease 8B61.4 Orphanet 481 TPD-3N9DMY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3N9DMY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3N9DMY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3NAB72 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3NBYNT Kennedy disease 8B61.4 Orphanet 481 TPD-3NBYNT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3NBYNT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3NBYNT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3NE6HJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3NE6HJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3NH04T Familial melanoma QC61.Y Orphanet 618 TPD-3NH04T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3NI5R6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3NI5R6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3NI5R6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3NI8G2 Noonan syndrome LD2F.15 Orphanet 648 TPD-3NI8G2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3NI8G2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3NI8G2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3NI8G2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3NI8G2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3NI8G2 Lynch syndrome 2B90.Y Orphanet 144 TPD-3NI8G2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3NI8G2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3NIVA9 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3NJNGB Kennedy disease 8B61.4 Orphanet 481 TPD-3NJNGB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3NJNGB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3NJNGB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3NP4NB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3NP4NB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3NP4NB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3NP4NB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3NP4NB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3NP4NB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3NP4NB Semantic dementia 6D83 Orphanet 100069 TPD-3NP4NB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3NU6ZY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3NU6ZY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3NU6ZY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3NXE89 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3NXE89 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3NXE89 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3NZEOM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3NZEOM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3NZEOM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3O565I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3O565I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3O61HU Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-3O61HU Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-3O61HU Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-3O8BBA Familial melanoma QC61.Y Orphanet 618 TPD-3O8BBA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3O9Y8X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3O9Y8X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3OES5D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3OES5D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3OF8C1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3OF8C1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3OF8C1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3OF8C1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3OF8C1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3OF8C1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3OF8C1 Semantic dementia 6D83 Orphanet 100069 TPD-3OF8C1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3OHMNK Kennedy disease 8B61.4 Orphanet 481 TPD-3OHMNK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3OHMNK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3OHMNK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3OJJW6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3OJJW6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3OJJW6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3OJJW6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3OKFU2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3OOYP6 Kennedy disease 8B61.4 Orphanet 481 TPD-3OOYP6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3OOYP6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3OOYP6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3OP8GH Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-3OUB3X Familial melanoma QC61.Y Orphanet 618 TPD-3OUB3X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3OWUWQ Kennedy disease 8B61.4 Orphanet 481 TPD-3OWUWQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3OWUWQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3OWUWQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3P3WN7 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-3P4GJ5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3P4GJ5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3P4GJ5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3P7SMP Noonan syndrome LD2F.15 Orphanet 648 TPD-3P7SMP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3P7SMP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3P7SMP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3P7SMP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3P7SMP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3P7SMP Lynch syndrome 2B90.Y Orphanet 144 TPD-3P7SMP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3P7SMP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3PFHZD Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-3PFHZD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3PFHZD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3PFHZD Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-3PFHZD Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-3PFHZD Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-3PFHZD Osteosarcoma 2B51 Orphanet 668 TPD-3PFHZD Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-3PFHZD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3PFHZD Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-3PFHZD Small cell lung cancer 2C25.1 Orphanet 70573 TPD-3PFHZD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3PFHZD Cushing disease 5A70.0 Orphanet 96253 TPD-3PFHZD Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-3PFHZD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3PIETS Familial melanoma QC61.Y Orphanet 618 TPD-3PIETS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3PII47 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3PII47 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3PII47 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3PII47 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3PIT2D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3PJV8L X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3PJV8L Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3PP3O9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3PP3O9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3PP3O9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3PP3O9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3PR0YK Kennedy disease 8B61.4 Orphanet 481 TPD-3PR0YK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3PR0YK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3PR0YK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3PRKDE Noonan syndrome LD2F.15 Orphanet 648 TPD-3PRKDE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3PRKDE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3PRKDE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3PRKDE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3PRKDE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3PRKDE Lynch syndrome 2B90.Y Orphanet 144 TPD-3PRKDE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3PRKDE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3PTG8K Familial melanoma QC61.Y Orphanet 618 TPD-3PTG8K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3PVJTP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3PVJTP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3PVJTP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3PXEX0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3PXEX0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3PYBPF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3Q0X4X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3Q0X4X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3Q0X4X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3Q0X4X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3Q0XCV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3Q1P9N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3Q1UAM Kennedy disease 8B61.4 Orphanet 481 TPD-3Q1UAM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3Q1UAM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3Q1UAM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3Q5WNW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3Q5WNW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3Q5WNW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3Q699G Noonan syndrome LD2F.15 Orphanet 648 TPD-3Q699G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3Q699G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3Q699G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3Q699G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3Q699G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3Q699G Lynch syndrome 2B90.Y Orphanet 144 TPD-3Q699G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3Q699G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3QBJAM Kennedy disease 8B61.4 Orphanet 481 TPD-3QBJAM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3QBJAM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3QBJAM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3QD15V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3QD15V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3QFL18 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3QLRWE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3QNN5I Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3QQNHO Noonan syndrome LD2F.15 Orphanet 648 TPD-3QQNHO Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3QR6UZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3QR6UZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3QR6UZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3QR6UZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3QRO26 Kennedy disease 8B61.4 Orphanet 481 TPD-3QRO26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3QRO26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3QRO26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3QSMFZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3QSMFZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3QSMFZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3QUPX8 Kennedy disease 8B61.4 Orphanet 481 TPD-3QUPX8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3QUPX8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3QUPX8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3QWGH3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3QWHKS Kennedy disease 8B61.4 Orphanet 481 TPD-3QWHKS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3QWHKS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3QWHKS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3QZ01W Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-3R3W3U Familial melanoma QC61.Y Orphanet 618 TPD-3R3W3U Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3R4DQT Kennedy disease 8B61.4 Orphanet 481 TPD-3R4DQT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3R4DQT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3R4DQT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3R5OEO Noonan syndrome LD2F.15 Orphanet 648 TPD-3R5OEO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3R5OEO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3R5OEO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3R5OEO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3R5OEO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3R5OEO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3R5OEO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3R5OEO Craniopharyngioma 2F9A Orphanet 54595 TPD-3R5OEO Cushing disease 5A70.0 Orphanet 96253 TPD-3R7MVI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3RDERJ Noonan syndrome LD2F.15 Orphanet 648 TPD-3RDERJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3RDERJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3RDERJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3RDERJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3RDERJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3RDERJ Lynch syndrome 2B90.Y Orphanet 144 TPD-3RDERJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3RDERJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3RGGBM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3RGGBM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3RGH5S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3RGH5S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3RGH5S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3RGSOT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3RN39W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3RN39W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3RN8XA Noonan syndrome LD2F.15 Orphanet 648 TPD-3RN8XA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3RN8XA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3RN8XA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3RN8XA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3RN8XA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3RN8XA Lynch syndrome 2B90.Y Orphanet 144 TPD-3RN8XA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3RN8XA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3RQV6F Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-3RQV6F Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3RSJJ1 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3RVP1K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3RVP1K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3RWM4W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3RWM4W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3RX50N Noonan syndrome LD2F.15 Orphanet 648 TPD-3RX50N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3RX50N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3RX50N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3RX50N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3RX50N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3RX50N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3RX50N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3RX50N Craniopharyngioma 2F9A Orphanet 54595 TPD-3RX50N Cushing disease 5A70.0 Orphanet 96253 TPD-3RZ903 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3RZ903 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3S177R Kennedy disease 8B61.4 Orphanet 481 TPD-3S177R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3S177R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3S177R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3S6O63 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3S6O63 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3S6O63 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3S8EB5 Noonan syndrome LD2F.15 Orphanet 648 TPD-3S8EB5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3S8EB5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3S8EB5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3S8EB5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3S8EB5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3S8EB5 Lynch syndrome 2B90.Y Orphanet 144 TPD-3S8EB5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3S8EB5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3S9IT6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3SAKRS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3SAKRS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3SAKRS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3SAWG2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3SBVUW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3SBVUW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3SBVUW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3SEA4B Kennedy disease 8B61.4 Orphanet 481 TPD-3SEA4B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SEA4B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SEA4B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SEYWB Noonan syndrome LD2F.15 Orphanet 648 TPD-3SEYWB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3SEYWB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3SEYWB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3SEYWB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3SEYWB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3SEYWB Lynch syndrome 2B90.Y Orphanet 144 TPD-3SEYWB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3SEYWB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3SEZQA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3SGPJ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-3SGPJ4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3SGPJ4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3SGPJ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3SGPJ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3SGPJ4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3SGPJ4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3SGPJ4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3SGPJ4 Craniopharyngioma 2F9A Orphanet 54595 TPD-3SGPJ4 Cushing disease 5A70.0 Orphanet 96253 TPD-3SI4NU Familial melanoma QC61.Y Orphanet 618 TPD-3SI4NU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3SK5PR Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-3SK5PR Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-3SO2BR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3SO2BR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3SO8EU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3SP5NG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-3SP5NG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-3SPSGV Noonan syndrome LD2F.15 Orphanet 648 TPD-3SPSGV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3SRTLE Kennedy disease 8B61.4 Orphanet 481 TPD-3SRTLE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SRTLE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SRTLE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SRZEJ Kennedy disease 8B61.4 Orphanet 481 TPD-3SRZEJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SRZEJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SRZEJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SSGQ7 Kennedy disease 8B61.4 Orphanet 481 TPD-3SSGQ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SSGQ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SSGQ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SUJ23 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3SUJ23 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3SVBZQ Kennedy disease 8B61.4 Orphanet 481 TPD-3SVBZQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SVBZQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SVBZQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SW0CR Kennedy disease 8B61.4 Orphanet 481 TPD-3SW0CR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3SW0CR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3SW0CR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3SZKIG Hirschsprung disease LB16.1 Orphanet 388 TPD-3SZKIG Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-3SZKIG Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-3SZY6K Familial melanoma QC61.Y Orphanet 618 TPD-3SZY6K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3T05RQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3T05RQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3T37SM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3T37SM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3T9B4G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3T9B4G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3T9B4G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3T9JNZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3TAPDS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3TAPDS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3TAPDS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3TAPDS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3TAPDS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3TAPDS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3TAPDS Semantic dementia 6D83 Orphanet 100069 TPD-3TAPDS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3TB4GA Kennedy disease 8B61.4 Orphanet 481 TPD-3TB4GA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3TB4GA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3TB4GA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3TBRC6 Kennedy disease 8B61.4 Orphanet 481 TPD-3TBRC6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3TBRC6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3TBRC6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3TCYZT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3TH9AS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3TH9AS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3TH9AS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3TIJ4L Kennedy disease 8B61.4 Orphanet 481 TPD-3TIJ4L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3TIJ4L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3TIJ4L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3TQ35X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3TQ35X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3TQ35X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3TRGF4 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-3U8I52 Kennedy disease 8B61.4 Orphanet 481 TPD-3U8I52 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3U8I52 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3U8I52 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UB0UO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3UB0UO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3UB0UO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3UEDWO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3UETE1 Kennedy disease 8B61.4 Orphanet 481 TPD-3UETE1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3UETE1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3UETE1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UFPMW Kennedy disease 8B61.4 Orphanet 481 TPD-3UFPMW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3UFPMW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3UFPMW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UGEEU Noonan syndrome LD2F.15 Orphanet 648 TPD-3UGEEU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3UGEEU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UGEEU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3UGEEU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UGEEU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3UGEEU Lynch syndrome 2B90.Y Orphanet 144 TPD-3UGEEU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3UGEEU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3UGH7C Noonan syndrome LD2F.15 Orphanet 648 TPD-3UGH7C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3UGH7C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3UGH7C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UGH7C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UGH7C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3UGH7C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3UGH7C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3UGH7C Craniopharyngioma 2F9A Orphanet 54595 TPD-3UGH7C Cushing disease 5A70.0 Orphanet 96253 TPD-3UGTYI Kennedy disease 8B61.4 Orphanet 481 TPD-3UGTYI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3UGTYI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3UGTYI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UIZZI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3UIZZI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3UIZZI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3ULC83 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3UQWBZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3UQWBZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3UQWBZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3USL9Z Kennedy disease 8B61.4 Orphanet 481 TPD-3USL9Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3USL9Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3USL9Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UT2KX Noonan syndrome LD2F.15 Orphanet 648 TPD-3UT2KX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3UT2KX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UT2KX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3UT2KX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UT2KX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3UT2KX Lynch syndrome 2B90.Y Orphanet 144 TPD-3UT2KX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3UT2KX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3UU0GC Noonan syndrome LD2F.15 Orphanet 648 TPD-3UU0GC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3UU0GC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UU0GC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3UU0GC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UU0GC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3UU0GC Lynch syndrome 2B90.Y Orphanet 144 TPD-3UU0GC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3UU0GC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3UVDN1 Noonan syndrome LD2F.15 Orphanet 648 TPD-3UVDN1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3UVDN1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UVDN1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3UVDN1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UVDN1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3UVDN1 Lynch syndrome 2B90.Y Orphanet 144 TPD-3UVDN1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3UVDN1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3UW660 Kennedy disease 8B61.4 Orphanet 481 TPD-3UW660 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3UW660 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3UW660 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UX0DM Noonan syndrome LD2F.15 Orphanet 648 TPD-3UX0DM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3UX0DM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3UX0DM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UX0DM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UX0DM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3UX0DM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3UX0DM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3UX0DM Craniopharyngioma 2F9A Orphanet 54595 TPD-3UX0DM Cushing disease 5A70.0 Orphanet 96253 TPD-3UX8NK Kennedy disease 8B61.4 Orphanet 481 TPD-3UX8NK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3UX8NK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3UX8NK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3UXH3G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3UXH3G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3UXZJD Noonan syndrome LD2F.15 Orphanet 648 TPD-3UXZJD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3UXZJD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3UXZJD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3UXZJD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3UXZJD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3UXZJD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3UXZJD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3UXZJD Craniopharyngioma 2F9A Orphanet 54595 TPD-3UXZJD Cushing disease 5A70.0 Orphanet 96253 TPD-3UYWTT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3UYWTT Neuroblastoma 2A00.11 Orphanet 635 TPD-3UYWTT Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-3UYWTT ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-3UYWTT ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-3V0TAZ Kennedy disease 8B61.4 Orphanet 481 TPD-3V0TAZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3V0TAZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3V0TAZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3V4IK5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3V4IK5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3V4NV2 Noonan syndrome LD2F.15 Orphanet 648 TPD-3V4NV2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3V4NV2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3V4NV2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3V4NV2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3V4NV2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3V4NV2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3V4NV2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3V4NV2 Craniopharyngioma 2F9A Orphanet 54595 TPD-3V4NV2 Cushing disease 5A70.0 Orphanet 96253 TPD-3V6SD2 Noonan syndrome LD2F.15 Orphanet 648 TPD-3V6SD2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3V6SD2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3V6SD2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3V6SD2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3V6SD2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3V6SD2 Lynch syndrome 2B90.Y Orphanet 144 TPD-3V6SD2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3V6SD2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3V9LTW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3V9LTW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3VB0BW Weaver syndrome LD2C Orphanet 3447 TPD-3VHW65 Kennedy disease 8B61.4 Orphanet 481 TPD-3VHW65 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3VHW65 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3VHW65 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3VKYC0 Kennedy disease 8B61.4 Orphanet 481 TPD-3VKYC0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3VKYC0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3VKYC0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3VLMKP Noonan syndrome LD2F.15 Orphanet 648 TPD-3VLMKP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3VLMKP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3VLMKP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3VLMKP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3VLMKP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3VLMKP Lynch syndrome 2B90.Y Orphanet 144 TPD-3VLMKP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3VLMKP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3VNEDZ Noonan syndrome LD2F.15 Orphanet 648 TPD-3VNEDZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3VNEDZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3VNEDZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3VNEDZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3VNEDZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3VNEDZ Lynch syndrome 2B90.Y Orphanet 144 TPD-3VNEDZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3VNEDZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3VPEXG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3VPEXG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3VPEXG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3VPEXG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3VRB14 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3VRB14 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3VRB14 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3VTYHA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3VTYHA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3VZCBU Peters anomaly 9C61.42 Orphanet 708 TPD-3VZCBU Congenital glaucoma 9C61.40 Orphanet 98976 TPD-3VZCBU Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-3W14WY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3W14WY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3W1I2W Kennedy disease 8B61.4 Orphanet 481 TPD-3W1I2W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3W1I2W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3W1I2W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3W2OSH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3W2OSH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3W2OSH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3W6TMJ Kennedy disease 8B61.4 Orphanet 481 TPD-3W6TMJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3W6TMJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3W6TMJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3W6UT6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3W860H Noonan syndrome LD2F.15 Orphanet 648 TPD-3W860H Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3W86DZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3W86RA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3W86RA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3W8QWZ Familial melanoma QC61.Y Orphanet 618 TPD-3W8QWZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3WGRAG Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-3WGRAG Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3WGRAG Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3WGRAG Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3WGRAG Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3WGRAG Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3WGRAG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3WGRAG Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3WGRAG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-3WHUQZ Kennedy disease 8B61.4 Orphanet 481 TPD-3WHUQZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3WHUQZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3WHUQZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3WIDBM Noonan syndrome LD2F.15 Orphanet 648 TPD-3WIDBM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3WIDBM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3WIDBM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3WIDBM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3WIDBM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3WIDBM Lynch syndrome 2B90.Y Orphanet 144 TPD-3WIDBM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3WIDBM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3WIG56 Kennedy disease 8B61.4 Orphanet 481 TPD-3WIG56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3WIG56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3WIG56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3WL19K Kennedy disease 8B61.4 Orphanet 481 TPD-3WL19K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3WL19K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3WL19K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3WN5F0 Noonan syndrome LD2F.15 Orphanet 648 TPD-3WN5F0 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-3WOFCD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3WOFCD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3WOFCD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3WSCIS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3WSCIS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3WSCIS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3WSCIS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3WUB5T Kennedy disease 8B61.4 Orphanet 481 TPD-3WUB5T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3WUB5T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3WUB5T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3WWLXV Noonan syndrome LD2F.15 Orphanet 648 TPD-3WWLXV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3WWLXV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3WWLXV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3WWLXV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3WWLXV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3WWLXV Lynch syndrome 2B90.Y Orphanet 144 TPD-3WWLXV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3WWLXV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3X2G0Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3X2G0Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3X3QR1 Kennedy disease 8B61.4 Orphanet 481 TPD-3X3QR1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3X3QR1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3X3QR1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3X4GZD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3X4KFS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3X4KFS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3XAK3V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3XCFV2 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-3XH4SK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3XH687 Noonan syndrome LD2F.15 Orphanet 648 TPD-3XH687 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3XH687 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3XH687 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3XH687 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3XH687 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3XH687 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3XH687 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3XH687 Craniopharyngioma 2F9A Orphanet 54595 TPD-3XH687 Cushing disease 5A70.0 Orphanet 96253 TPD-3XHOTA Noonan syndrome LD2F.15 Orphanet 648 TPD-3XHOTA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3XHOTA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3XHOTA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3XHOTA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3XHOTA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3XHOTA Lynch syndrome 2B90.Y Orphanet 144 TPD-3XHOTA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3XHOTA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3XI1M3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3XI1M3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3XI1M3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3XJHKC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3XMEER Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-3XN9WE Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-3XN9WE Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3XN9WE Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3XN9WE Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3XN9WE Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3XN9WE Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3XN9WE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3XN9WE Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3XN9WE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-3XNKDH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3XNKDH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3XNKDH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3XOXHY Noonan syndrome LD2F.15 Orphanet 648 TPD-3XOXHY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3XOXHY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3XOXHY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3XOXHY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3XOXHY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3XOXHY Lynch syndrome 2B90.Y Orphanet 144 TPD-3XOXHY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3XOXHY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3XRZSB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3XRZSB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3XRZSB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3XS9YX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3XS9YX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3XSO2Z Familial melanoma QC61.Y Orphanet 618 TPD-3XSO2Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3XWF4E Noonan syndrome LD2F.15 Orphanet 648 TPD-3XWF4E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3XWF4E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3XWF4E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3XWF4E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3XWF4E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3XWF4E Lynch syndrome 2B90.Y Orphanet 144 TPD-3XWF4E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3XWF4E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3XXJNZ Noonan syndrome LD2F.15 Orphanet 648 TPD-3XXJNZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3XXJNZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3XXJNZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3XXJNZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3XXJNZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3XXJNZ Lynch syndrome 2B90.Y Orphanet 144 TPD-3XXJNZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3XXJNZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3XY38G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3XY38G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3XYN9C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3XYN9C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3XYN9C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3XYN9C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3Y05HL Noonan syndrome LD2F.15 Orphanet 648 TPD-3Y05HL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3Y05HL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3Y05HL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3Y05HL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3Y05HL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3Y05HL Lynch syndrome 2B90.Y Orphanet 144 TPD-3Y05HL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3Y05HL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3Y0GMM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3Y0GMM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3Y0GMM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3Y0ZTH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3Y0ZTH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3Y0ZTH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3Y0ZTH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3Y0ZTH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3Y0ZTH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3Y0ZTH Semantic dementia 6D83 Orphanet 100069 TPD-3Y0ZTH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3Y1AOE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3Y8ONZ Noonan syndrome LD2F.15 Orphanet 648 TPD-3Y8ONZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3Y8ONZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3Y8ONZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3Y8ONZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3Y8ONZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3Y8ONZ Lynch syndrome 2B90.Y Orphanet 144 TPD-3Y8ONZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3Y8ONZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3YBWUF Kennedy disease 8B61.4 Orphanet 481 TPD-3YBWUF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3YBWUF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3YBWUF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3YFAKW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3YFAKW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3YFDA6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3YHMMM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-3YI3C2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-3YI3C2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-3YIZM9 Noonan syndrome LD2F.15 Orphanet 648 TPD-3YIZM9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3YIZM9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3YIZM9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3YIZM9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3YIZM9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3YIZM9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3YIZM9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3YIZM9 Craniopharyngioma 2F9A Orphanet 54595 TPD-3YIZM9 Cushing disease 5A70.0 Orphanet 96253 TPD-3YLQ8G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3YLQ8G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-3YM8GX Familial melanoma QC61.Y Orphanet 618 TPD-3YM8GX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3YQF1Z Noonan syndrome LD2F.15 Orphanet 648 TPD-3YQF1Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3YQF1Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3YQF1Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3YQF1Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3YQF1Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3YQF1Z Lynch syndrome 2B90.Y Orphanet 144 TPD-3YQF1Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3YQF1Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3YSDGL Familial melanoma QC61.Y Orphanet 618 TPD-3Z10LF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-3Z23QX Kennedy disease 8B61.4 Orphanet 481 TPD-3Z23QX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3Z23QX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3Z23QX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3Z3RPC Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-3Z4SSM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3Z4SSM Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3Z4SSM Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3Z4SSM Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3Z4SSM Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3Z4SSM Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3Z4SSM Semantic dementia 6D83 Orphanet 100069 TPD-3Z4SSM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3Z65CU Kennedy disease 8B61.4 Orphanet 481 TPD-3Z65CU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3Z65CU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3Z65CU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3ZBW4S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-3ZBW4S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-3ZBW4S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-3ZBXW1 Noonan syndrome LD2F.15 Orphanet 648 TPD-3ZBXW1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-3ZBXW1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3ZBXW1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-3ZBXW1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3ZBXW1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-3ZBXW1 Lynch syndrome 2B90.Y Orphanet 144 TPD-3ZBXW1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-3ZBXW1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-3ZC6KU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-3ZC6KU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-3ZCK2H Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3ZCK2H Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3ZCK2H Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3ZCK2H Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3ZCK2H Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3ZCK2H Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3ZCK2H Semantic dementia 6D83 Orphanet 100069 TPD-3ZCK2H Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-3ZDGVB Kennedy disease 8B61.4 Orphanet 481 TPD-3ZDGVB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3ZDGVB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3ZDGVB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3ZJIQO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-3ZJIQO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-3ZL5OP Kennedy disease 8B61.4 Orphanet 481 TPD-3ZL5OP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3ZL5OP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3ZL5OP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3ZOGUL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3ZP4V1 Familial melanoma QC61.Y Orphanet 618 TPD-3ZP4V1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3ZPZ2Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-3ZQEZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-3ZQEZ7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-3ZQEZ7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-3ZQEZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-3ZQEZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-3ZQEZ7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-3ZQEZ7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-3ZQEZ7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-3ZQEZ7 Craniopharyngioma 2F9A Orphanet 54595 TPD-3ZQEZ7 Cushing disease 5A70.0 Orphanet 96253 TPD-3ZQEZ7 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-3ZQRCB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3ZQRCB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3ZQRCB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3ZQRCB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3ZQX01 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-3ZQX01 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-3ZQX01 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3ZQX01 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-3ZS2BD Familial melanoma QC61.Y Orphanet 618 TPD-3ZS2BD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-3ZTG0J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-3ZVLNO Kennedy disease 8B61.4 Orphanet 481 TPD-3ZVLNO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3ZVLNO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3ZVLNO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3ZWLX3 Kennedy disease 8B61.4 Orphanet 481 TPD-3ZWLX3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-3ZWLX3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-3ZWLX3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-3ZX3AI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-3ZX3AI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-3ZX3AI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-3ZX3AI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-3ZX3AI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-3ZX3AI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-3ZX3AI Semantic dementia 6D83 Orphanet 100069 TPD-3ZX3AI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-400NHF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-400NHF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-400NHF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-40469G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-40469G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4069HQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4069HQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-409HNN Kennedy disease 8B61.4 Orphanet 481 TPD-409HNN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-409HNN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-409HNN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-40CKQ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-40CKQ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-40CKQ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-40CKQ1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-40HHNE Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-40HHNE Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-40HHNE Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-40HHNE Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-40HHNE Primary myelofibrosis 2A20.2 Orphanet 824 TPD-40HHNE Polycythemia vera 2A20.4 Orphanet 729 TPD-40HHNE Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-40LPXS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-40N4SM Noonan syndrome LD2F.15 Orphanet 648 TPD-40N4SM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-40N4SM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-40N4SM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-40N4SM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-40N4SM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-40N4SM Lynch syndrome 2B90.Y Orphanet 144 TPD-40N4SM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-40N4SM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-40NZEK Noonan syndrome LD2F.15 Orphanet 648 TPD-40NZEK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-40NZEK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-40NZEK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-40NZEK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-40NZEK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-40NZEK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-40NZEK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-40NZEK Craniopharyngioma 2F9A Orphanet 54595 TPD-40NZEK Cushing disease 5A70.0 Orphanet 96253 TPD-40QP90 Kennedy disease 8B61.4 Orphanet 481 TPD-40QP90 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-40QP90 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-40QP90 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-40TZ59 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-40TZ59 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-40TZ59 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-40W2KS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-40W2KS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-40W2KS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-41BOAP Kennedy disease 8B61.4 Orphanet 481 TPD-41BOAP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-41BOAP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-41BOAP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-41BYAJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-41BYAJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-41C3Q8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-41C3Q8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-41C3Q8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-41C46G Familial melanoma QC61.Y Orphanet 618 TPD-41C46G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-41DVZU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-41EGYG Noonan syndrome LD2F.15 Orphanet 648 TPD-41EGYG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-41EGYG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-41EGYG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-41EGYG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-41EGYG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-41EGYG Lynch syndrome 2B90.Y Orphanet 144 TPD-41EGYG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-41EGYG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-41RTTA Kennedy disease 8B61.4 Orphanet 481 TPD-41RTTA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-41RTTA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-41RTTA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-41RYFY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-41RYFY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-41RYFY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-41RYFY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-41SXQV Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-41WLS0 Noonan syndrome LD2F.15 Orphanet 648 TPD-41WLS0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-41WLS0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-41WLS0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-41WLS0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-41WLS0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-41WLS0 Lynch syndrome 2B90.Y Orphanet 144 TPD-41WLS0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-41WLS0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-41X2Y1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-41YII2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-41YII2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-420E36 Kennedy disease 8B61.4 Orphanet 481 TPD-420E36 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-420E36 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-420E36 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-420W5X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-420W5X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-421CTD Kennedy disease 8B61.4 Orphanet 481 TPD-421CTD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-421CTD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-421CTD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-421VCT Kennedy disease 8B61.4 Orphanet 481 TPD-421VCT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-421VCT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-421VCT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-423AXH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-423AXH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-423AXH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-426LNM Noonan syndrome LD2F.15 Orphanet 648 TPD-426LNM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-428D4G Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-42A6NC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-42A6NC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-42C0NE Kennedy disease 8B61.4 Orphanet 481 TPD-42C0NE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-42C0NE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-42C0NE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-42ESG4 Kennedy disease 8B61.4 Orphanet 481 TPD-42ESG4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-42ESG4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-42ESG4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-42FBXW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-42FBXW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-42GJXZ Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-42GJXZ Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-42LEKZ Weaver syndrome LD2C Orphanet 3447 TPD-42ML1W Noonan syndrome LD2F.15 Orphanet 648 TPD-42ML1W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-42ML1W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-42ML1W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-42ML1W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-42ML1W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-42ML1W Lynch syndrome 2B90.Y Orphanet 144 TPD-42ML1W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-42ML1W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-42MTMB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-42MYCY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-42MYCY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-42MYCY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-42MYCY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-42NQCD Kennedy disease 8B61.4 Orphanet 481 TPD-42NQCD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-42NQCD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-42NQCD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-42QQ0D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-42QQ0D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-42SCBM Kennedy disease 8B61.4 Orphanet 481 TPD-42SCBM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-42SCBM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-42SCBM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-42WIJ3 Kennedy disease 8B61.4 Orphanet 481 TPD-42WIJ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-42WIJ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-42WIJ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4305VM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4305VM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4358WI Kennedy disease 8B61.4 Orphanet 481 TPD-4358WI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4358WI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4358WI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-437CDF Kennedy disease 8B61.4 Orphanet 481 TPD-437CDF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-437CDF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-437CDF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-437PMO Noonan syndrome LD2F.15 Orphanet 648 TPD-437PMO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-437PMO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-437PMO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-437PMO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-437PMO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-437PMO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-437PMO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-437PMO Craniopharyngioma 2F9A Orphanet 54595 TPD-437PMO Cushing disease 5A70.0 Orphanet 96253 TPD-438QMZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-438QMZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-438QMZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-438QMZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-43DCVD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-43DCVD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-43K3DC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-43K3DC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-43K3DC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-43K3DC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-43K6K4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-43KBBU Kennedy disease 8B61.4 Orphanet 481 TPD-43KBBU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-43KBBU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-43KBBU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-43KLRO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-43KLRO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-43MYPW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-43MYPW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-43MYPW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-43PXDH Kennedy disease 8B61.4 Orphanet 481 TPD-43PXDH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-43PXDH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-43PXDH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-43QIDL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-43QIDL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-43QIDL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-43SQL9 Kennedy disease 8B61.4 Orphanet 481 TPD-43SQL9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-43SQL9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-43SQL9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-43SVL5 Noonan syndrome LD2F.15 Orphanet 648 TPD-43SVL5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-43SVL5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-43SVL5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-43SVL5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-43SVL5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-43SVL5 Lynch syndrome 2B90.Y Orphanet 144 TPD-43SVL5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-43SVL5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-442RHP Noonan syndrome LD2F.15 Orphanet 648 TPD-442RHP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-442RHP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-442RHP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-442RHP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-442RHP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-442RHP Lynch syndrome 2B90.Y Orphanet 144 TPD-442RHP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-442RHP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-443349 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-443349 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-443VB7 Familial melanoma QC61.Y Orphanet 618 TPD-443VB7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4440EH Kennedy disease 8B61.4 Orphanet 481 TPD-4440EH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4440EH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4440EH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-444A25 Noonan syndrome LD2F.15 Orphanet 648 TPD-444A25 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-444A25 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-444A25 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-444A25 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-444A25 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-444A25 Lynch syndrome 2B90.Y Orphanet 144 TPD-444A25 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-444A25 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-447DC3 Noonan syndrome LD2F.15 Orphanet 648 TPD-447DC3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-447DC3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-447DC3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-447DC3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-447DC3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-447DC3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-447DC3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-447DC3 Craniopharyngioma 2F9A Orphanet 54595 TPD-447DC3 Cushing disease 5A70.0 Orphanet 96253 TPD-447IFO Kennedy disease 8B61.4 Orphanet 481 TPD-447IFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-447IFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-447IFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-449ZFM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-44A3MS Noonan syndrome LD2F.15 Orphanet 648 TPD-44A3MS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-44A3MS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-44A3MS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-44A3MS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-44A3MS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-44A3MS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-44A3MS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-44A3MS Craniopharyngioma 2F9A Orphanet 54595 TPD-44A3MS Cushing disease 5A70.0 Orphanet 96253 TPD-44BAGC Noonan syndrome LD2F.15 Orphanet 648 TPD-44BAGC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-44BAGC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-44BAGC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-44BAGC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-44BAGC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-44BAGC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-44BAGC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-44BAGC Craniopharyngioma 2F9A Orphanet 54595 TPD-44BAGC Cushing disease 5A70.0 Orphanet 96253 TPD-44BTGO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-44BTGO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-44BTGO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-44BTXE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-44DTFK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-44M9NA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-44M9NA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-44M9NA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-44MJVF Kennedy disease 8B61.4 Orphanet 481 TPD-44MJVF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-44MJVF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-44MJVF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-44NMTD Noonan syndrome LD2F.15 Orphanet 648 TPD-44NMTD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-44NMTD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-44NMTD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-44NMTD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-44NMTD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-44NMTD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-44NMTD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-44NMTD Craniopharyngioma 2F9A Orphanet 54595 TPD-44NMTD Cushing disease 5A70.0 Orphanet 96253 TPD-44RY43 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-44SAQO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-44SMDJ Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-44SMDJ MODY 5A13.6 Orphanet 552 TPD-44SMDJ Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-44VJMG Noonan syndrome LD2F.15 Orphanet 648 TPD-44VJMG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-44VJMG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-44VJMG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-44VJMG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-44VJMG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-44VJMG Lynch syndrome 2B90.Y Orphanet 144 TPD-44VJMG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-44VJMG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-44VTCP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-44VTCP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-44WOLR Kennedy disease 8B61.4 Orphanet 481 TPD-44WOLR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-44WOLR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-44WOLR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-44ZHUO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-44ZMYA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-451V5V Familial melanoma QC61.Y Orphanet 618 TPD-451V5V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-455CRH Familial melanoma QC61.Y Orphanet 618 TPD-455CRH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-458Z7V Noonan syndrome LD2F.15 Orphanet 648 TPD-458Z7V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-458Z7V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-458Z7V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-458Z7V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-458Z7V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-458Z7V Lynch syndrome 2B90.Y Orphanet 144 TPD-458Z7V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-458Z7V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-45A76F Noonan syndrome LD2F.15 Orphanet 648 TPD-45A76F Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-45AFZY Kennedy disease 8B61.4 Orphanet 481 TPD-45AFZY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-45AFZY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-45AFZY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-45B6IB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-45B6IB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-45CY5X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-45CY5X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-45CY5X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-45CY5X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-45FXZZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-45FXZZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-45FXZZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-45FXZZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-45FXZZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-45FXZZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-45FXZZ Semantic dementia 6D83 Orphanet 100069 TPD-45FXZZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-45HEUU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-45J5QW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-45J5QW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-45REGD Noonan syndrome LD2F.15 Orphanet 648 TPD-45REGD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-45REGD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-45REGD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-45REGD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-45REGD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-45REGD Lynch syndrome 2B90.Y Orphanet 144 TPD-45REGD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-45REGD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-45SS23 Noonan syndrome LD2F.15 Orphanet 648 TPD-45SS23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-45SS23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-45SS23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-45SS23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-45SS23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-45SS23 Lynch syndrome 2B90.Y Orphanet 144 TPD-45SS23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-45SS23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-45VYEK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-45VYEK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-45W0ZN Noonan syndrome LD2F.15 Orphanet 648 TPD-45W0ZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-45W0ZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-45W0ZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-45W0ZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-45W0ZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-45W0ZN Lynch syndrome 2B90.Y Orphanet 144 TPD-45W0ZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-45W0ZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-45WEMQ Kennedy disease 8B61.4 Orphanet 481 TPD-45WEMQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-45WEMQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-45WEMQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-46475N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-46475N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-46475N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4647VG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-468CPH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-46A4Q3 Kennedy disease 8B61.4 Orphanet 481 TPD-46A4Q3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-46A4Q3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-46A4Q3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-46B52Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-46B52Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-46B52Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-46B52Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-46FOGK Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-46J7D5 Noonan syndrome LD2F.15 Orphanet 648 TPD-46J7D5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-46J7D5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-46J7D5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-46J7D5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-46J7D5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-46J7D5 Lynch syndrome 2B90.Y Orphanet 144 TPD-46J7D5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-46J7D5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-46JT3C Kennedy disease 8B61.4 Orphanet 481 TPD-46JT3C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-46JT3C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-46JT3C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-46OIAB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-46OIAB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-46OIAB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-46R3P5 Noonan syndrome LD2F.15 Orphanet 648 TPD-46R3P5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-46R3P5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-46R3P5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-46R3P5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-46R3P5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-46R3P5 Lynch syndrome 2B90.Y Orphanet 144 TPD-46R3P5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-46R3P5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-46W2QX Familial melanoma QC61.Y Orphanet 618 TPD-46W2QX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-46X2W3 Noonan syndrome LD2F.15 Orphanet 648 TPD-46X2W3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-46X2W3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-46X2W3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-46X2W3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-46X2W3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-46X2W3 Lynch syndrome 2B90.Y Orphanet 144 TPD-46X2W3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-46X2W3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4713ZU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-474DQT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-474DQT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-474DQT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-478SIG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-478SIG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-478SIG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-47BD24 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-47BD24 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-47BV24 Noonan syndrome LD2F.15 Orphanet 648 TPD-47BV24 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-47BV24 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-47BV24 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-47BV24 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-47BV24 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-47BV24 Lynch syndrome 2B90.Y Orphanet 144 TPD-47BV24 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-47BV24 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-47ECVV Noonan syndrome LD2F.15 Orphanet 648 TPD-47ECVV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-47ECVV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-47ECVV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-47ECVV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-47ECVV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-47ECVV Lynch syndrome 2B90.Y Orphanet 144 TPD-47ECVV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-47ECVV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-47FHHB Kennedy disease 8B61.4 Orphanet 481 TPD-47FHHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-47FHHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-47FHHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-47GN5D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-47HWAU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-47LJKH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-47LJKH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-47LJKH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-47LYLV Kennedy disease 8B61.4 Orphanet 481 TPD-47LYLV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-47LYLV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-47LYLV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-47NNOF Kennedy disease 8B61.4 Orphanet 481 TPD-47NNOF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-47NNOF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-47NNOF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-47OZ57 Noonan syndrome LD2F.15 Orphanet 648 TPD-47OZ57 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-47OZ57 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-47OZ57 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-47OZ57 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-47OZ57 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-47OZ57 Lynch syndrome 2B90.Y Orphanet 144 TPD-47OZ57 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-47OZ57 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-47P1ID Kennedy disease 8B61.4 Orphanet 481 TPD-47P1ID Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-47P1ID Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-47P1ID Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-47SIA1 Familial melanoma QC61.Y Orphanet 618 TPD-47SIA1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-47VSV6 Weaver syndrome LD2C Orphanet 3447 TPD-47W6XW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-47W6XW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-47W6XW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-47W6XW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-47WZAO Kennedy disease 8B61.4 Orphanet 481 TPD-47WZAO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-47WZAO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-47WZAO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-47XD2R Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-47XPOR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-481WMS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-481WMS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-481WMS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-488YT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-488YT2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-488YT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-488YT2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-488YT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-488YT2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-488YT2 Lynch syndrome 2B90.Y Orphanet 144 TPD-488YT2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-488YT2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4892BO Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4892BO Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4892BO Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4892BO Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4892BO Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4892BO Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4892BO Semantic dementia 6D83 Orphanet 100069 TPD-4892BO Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-48CPQC Noonan syndrome LD2F.15 Orphanet 648 TPD-48CPQC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-48CPQC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-48CPQC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-48CPQC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-48CPQC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-48CPQC Lynch syndrome 2B90.Y Orphanet 144 TPD-48CPQC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-48CPQC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-48D24O Familial melanoma QC61.Y Orphanet 618 TPD-48D24O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-48F7OB Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-48F7OB Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-48G27T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-48G27T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-48G27T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-48GVQP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-48ILJZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-48ILJZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-48LIBM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-48LIBM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-48LIBM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-48MFKO Kennedy disease 8B61.4 Orphanet 481 TPD-48MFKO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-48MFKO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-48MFKO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-48OBP4 Familial melanoma QC61.Y Orphanet 618 TPD-48OBP4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-48U6EU Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-48U6EU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-48U6EU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-48U6EU Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-48U6EU MODY 5A13.6 Orphanet 552 TPD-48U6EU Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-48U6EU Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-48U6EU Williams syndrome LD44.70 Orphanet 904 TPD-48U6EU 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-48U6EU 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-48U6EU Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-48U6EU Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-48U6EU X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-48U6EU Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-48WYIP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-48Z2NM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-48Z2NM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-48Z2NM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4919AF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4919AF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4919AF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-491W9K Noonan syndrome LD2F.15 Orphanet 648 TPD-491W9K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-491W9K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-491W9K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-491W9K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-491W9K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-491W9K Lynch syndrome 2B90.Y Orphanet 144 TPD-491W9K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-491W9K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-492ELL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-494HAV Noonan syndrome LD2F.15 Orphanet 648 TPD-494HAV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-496KYD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-496KYD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-496KYD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-496KYD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-49ED3L Kennedy disease 8B61.4 Orphanet 481 TPD-49ED3L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-49ED3L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-49ED3L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-49GJFX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-49GJFX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-49GOQ3 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-49GOQ3 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-49GOQ3 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-49J026 Kennedy disease 8B61.4 Orphanet 481 TPD-49J026 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-49J026 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-49J026 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-49MQGB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-49MQGB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-49MQGB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-49MQGB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-49MQGB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-49MQGB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-49MQGB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-49MQGB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-49MQGB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-49N0TZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-49N0TZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-49N0TZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-49N0TZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-49OXW9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-49OXW9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-49OXW9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-49Q2FX Kennedy disease 8B61.4 Orphanet 481 TPD-49Q2FX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-49Q2FX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-49Q2FX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-49UOM6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-49VX3B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-49VX3B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-49VX3B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-49XD5O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4A9401 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4A9401 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4A9401 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4A9FP0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4A9FP0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4A9FP0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4A9ZIX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4A9ZIX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4AAWQ7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4AC7EQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4AILRZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4AILRZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4AK0M8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4AKYUL Kennedy disease 8B61.4 Orphanet 481 TPD-4AKYUL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4AKYUL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4AKYUL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4AM3TL Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-4AM3TL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4AM3TL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4AM3TL Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-4AM3TL Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-4AM3TL Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-4AM3TL Osteosarcoma 2B51 Orphanet 668 TPD-4AM3TL Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-4AM3TL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4AM3TL Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-4AM3TL Small cell lung cancer 2C25.1 Orphanet 70573 TPD-4AM3TL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4AM3TL Cushing disease 5A70.0 Orphanet 96253 TPD-4AM3TL Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-4AM3TL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4AOPRY Noonan syndrome LD2F.15 Orphanet 648 TPD-4AOPRY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4AOPRY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4AOPRY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4AOPRY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4AOPRY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4AOPRY Lynch syndrome 2B90.Y Orphanet 144 TPD-4AOPRY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4AOPRY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4AQTCJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4ASKD0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4ASKD0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4ASKD0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4ASKD0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4ASKD0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4ASKD0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4ASKD0 Semantic dementia 6D83 Orphanet 100069 TPD-4ASKD0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4AWSM7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4AWSM7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4AWSM7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4AYUDP Kennedy disease 8B61.4 Orphanet 481 TPD-4AYUDP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4AYUDP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4AYUDP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4AZBKK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4AZVIH Familial melanoma QC61.Y Orphanet 618 TPD-4AZVIH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4AZZ9T Noonan syndrome LD2F.15 Orphanet 648 TPD-4AZZ9T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4AZZ9T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4AZZ9T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4AZZ9T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4AZZ9T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4AZZ9T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4AZZ9T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4AZZ9T Craniopharyngioma 2F9A Orphanet 54595 TPD-4AZZ9T Cushing disease 5A70.0 Orphanet 96253 TPD-4B1JO7 Noonan syndrome LD2F.15 Orphanet 648 TPD-4B1JO7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4B1JO7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4B1JO7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4B1JO7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4B1JO7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4B1JO7 Lynch syndrome 2B90.Y Orphanet 144 TPD-4B1JO7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4B1JO7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4B3FYU Familial melanoma QC61.Y Orphanet 618 TPD-4B3FYU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4B4HYF Kennedy disease 8B61.4 Orphanet 481 TPD-4B4HYF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4B4HYF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4B4HYF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4B5QAM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4B5QAM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4B7ZMW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4B7ZMW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4B7ZMW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4B8VVH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4B8VVH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4B94MI Kennedy disease 8B61.4 Orphanet 481 TPD-4B94MI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4B94MI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4B94MI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4BIYFI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4BK7CC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4BK7CC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4BK7CC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4BK7CC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4BL8G5 Familial melanoma QC61.Y Orphanet 618 TPD-4BL8G5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4BNQC9 Noonan syndrome LD2F.15 Orphanet 648 TPD-4BNQC9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4BNQC9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4BNQC9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BNQC9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BNQC9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4BNQC9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4BNQC9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4BNQC9 Craniopharyngioma 2F9A Orphanet 54595 TPD-4BNQC9 Cushing disease 5A70.0 Orphanet 96253 TPD-4BNU24 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4BP2WY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4BP2WY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4BP2WY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4BPL78 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4BPL78 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4BPL78 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4BQLBM Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4BR8ES Noonan syndrome LD2F.15 Orphanet 648 TPD-4BR8ES Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4BR8ES Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BR8ES Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4BR8ES Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BR8ES Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4BR8ES Lynch syndrome 2B90.Y Orphanet 144 TPD-4BR8ES Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4BR8ES Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4BRLNX Noonan syndrome LD2F.15 Orphanet 648 TPD-4BRLNX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4BRLNX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4BRLNX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BRLNX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BRLNX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4BRLNX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4BRLNX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4BRLNX Craniopharyngioma 2F9A Orphanet 54595 TPD-4BRLNX Cushing disease 5A70.0 Orphanet 96253 TPD-4BT8BD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4BVJJ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4BVJJ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4BVJJ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4BVJJ1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4BX1RH Noonan syndrome LD2F.15 Orphanet 648 TPD-4BX1RH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4BX1RH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BX1RH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4BX1RH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BX1RH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4BX1RH Lynch syndrome 2B90.Y Orphanet 144 TPD-4BX1RH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4BX1RH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4BXAM1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4BXAM1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4BXAM1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BXAM1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4BXAM1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BXAM1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4BXAM1 Lynch syndrome 2B90.Y Orphanet 144 TPD-4BXAM1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4BXAM1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4BY2WL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4BY2WL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4BYZWS Noonan syndrome LD2F.15 Orphanet 648 TPD-4BYZWS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4BYZWS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4BYZWS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4BYZWS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4BYZWS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4BYZWS Lynch syndrome 2B90.Y Orphanet 144 TPD-4BYZWS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4BYZWS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4C13R6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4C13R6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4C13R6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4C41I2 Kennedy disease 8B61.4 Orphanet 481 TPD-4C41I2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4C41I2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4C41I2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4C47ZC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4C95YD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4C95YD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4CB17O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4CENZA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4CENZA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4CENZA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4CENZA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4CENZA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4CENZA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4CENZA Semantic dementia 6D83 Orphanet 100069 TPD-4CENZA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4CG2UG Kennedy disease 8B61.4 Orphanet 481 TPD-4CG2UG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4CG2UG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4CG2UG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4CJ34I Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-4CJ34I Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-4CJ34I Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-4CJ34I Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-4CJ34I Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-4CJC55 Familial melanoma QC61.Y Orphanet 618 TPD-4CJC55 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4CJH95 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4CJL6F Kennedy disease 8B61.4 Orphanet 481 TPD-4CJL6F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4CJL6F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4CJL6F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4CK2K6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4CK2K6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4CKTDI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4CKTDI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4CN6YQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4CQ6PO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4CU130 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4CU130 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4CU130 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4CUQBZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4CUQBZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4CUQBZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4CUQBZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4CXND8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4CXND8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4CXND8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4CYC92 Familial melanoma QC61.Y Orphanet 618 TPD-4CYC92 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4CZ1HM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4CZ1HM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4CZ1HM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4CZ3FG Noonan syndrome LD2F.15 Orphanet 648 TPD-4CZ3FG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4CZ3FG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4CZ3FG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4CZ3FG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4CZ3FG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4CZ3FG Lynch syndrome 2B90.Y Orphanet 144 TPD-4CZ3FG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4CZ3FG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4CZLI4 Noonan syndrome LD2F.15 Orphanet 648 TPD-4CZLI4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4CZLI4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4CZLI4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4CZLI4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4CZLI4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4CZLI4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4CZLI4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4CZLI4 Craniopharyngioma 2F9A Orphanet 54595 TPD-4CZLI4 Cushing disease 5A70.0 Orphanet 96253 TPD-4CZOZZ Familial melanoma QC61.Y Orphanet 618 TPD-4CZOZZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4D09P6 Familial melanoma QC61.Y Orphanet 618 TPD-4D09P6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4D1B62 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4D1B62 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4D1B62 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4D25E3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4D54EK Kennedy disease 8B61.4 Orphanet 481 TPD-4D54EK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4D54EK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4D54EK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4D5IWM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4D5IWM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4D5IWM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4D6YKR Noonan syndrome LD2F.15 Orphanet 648 TPD-4D6YKR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4D6YKR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4D6YKR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4D6YKR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4D6YKR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4D6YKR Lynch syndrome 2B90.Y Orphanet 144 TPD-4D6YKR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4D6YKR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4DAET3 Noonan syndrome LD2F.15 Orphanet 648 TPD-4DAET3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4DAET3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4DAET3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4DAET3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4DAET3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4DAET3 Lynch syndrome 2B90.Y Orphanet 144 TPD-4DAET3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4DAET3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4DDSIC Kennedy disease 8B61.4 Orphanet 481 TPD-4DDSIC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DDSIC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DDSIC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DHA9K Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-4DJ0JZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4DJ0JZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4DJ0JZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4DJ0JZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4DLAAL Noonan syndrome LD2F.15 Orphanet 648 TPD-4DLAAL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4DLAAL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4DLAAL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4DLAAL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4DLAAL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4DLAAL Lynch syndrome 2B90.Y Orphanet 144 TPD-4DLAAL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4DLAAL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4DO8TC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4DO8TC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4DP8CH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4DP8CH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4DP8CH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4DQI35 Kennedy disease 8B61.4 Orphanet 481 TPD-4DQI35 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DQI35 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DQI35 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DR899 Kennedy disease 8B61.4 Orphanet 481 TPD-4DR899 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DR899 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DR899 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DSWSN Kennedy disease 8B61.4 Orphanet 481 TPD-4DSWSN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DSWSN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DSWSN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DWUDW Kennedy disease 8B61.4 Orphanet 481 TPD-4DWUDW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DWUDW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DWUDW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DYOKX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4DZGK8 Kennedy disease 8B61.4 Orphanet 481 TPD-4DZGK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4DZGK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4DZGK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4DZVVH Noonan syndrome LD2F.15 Orphanet 648 TPD-4DZVVH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4DZVVH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4DZVVH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4DZVVH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4DZVVH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4DZVVH Lynch syndrome 2B90.Y Orphanet 144 TPD-4DZVVH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4DZVVH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4E0ESJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4E0ESJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4E13MV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4E13MV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4E13MV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4E13MV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4E2T4A Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4E45AO Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-4E5HLV Noonan syndrome LD2F.15 Orphanet 648 TPD-4E5HLV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4E5HLV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4E5HLV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4E5HLV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4E5HLV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4E5HLV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4E5HLV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4E5HLV Craniopharyngioma 2F9A Orphanet 54595 TPD-4E5HLV Cushing disease 5A70.0 Orphanet 96253 TPD-4ED3PZ Noonan syndrome LD2F.15 Orphanet 648 TPD-4ED3PZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4ED3PZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4ED3PZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4ED3PZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4ED3PZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4ED3PZ Lynch syndrome 2B90.Y Orphanet 144 TPD-4ED3PZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4ED3PZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4EDJZR Kennedy disease 8B61.4 Orphanet 481 TPD-4EDJZR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4EDJZR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4EDJZR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4EJSY6 Kennedy disease 8B61.4 Orphanet 481 TPD-4EJSY6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4EJSY6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4EJSY6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4EPSJ9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4EPSJ9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4EPSJ9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4EQ4OM Kennedy disease 8B61.4 Orphanet 481 TPD-4EQ4OM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4EQ4OM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4EQ4OM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4ERTB3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4ESIRA Weaver syndrome LD2C Orphanet 3447 TPD-4ETDNI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4EW6OL Noonan syndrome LD2F.15 Orphanet 648 TPD-4EW6OL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4EW6OL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4EW6OL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4EW6OL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4EW6OL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4EW6OL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4EW6OL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4EW6OL Craniopharyngioma 2F9A Orphanet 54595 TPD-4EW6OL Cushing disease 5A70.0 Orphanet 96253 TPD-4EZYIA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4EZYIA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4EZYIA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4EZYIA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4F2WVV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4F2WVV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4F4450 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4F6VDM Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4F7GCD Kennedy disease 8B61.4 Orphanet 481 TPD-4F7GCD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4F7GCD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4F7GCD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4F914I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4F914I Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4F914I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4F9GXD Kennedy disease 8B61.4 Orphanet 481 TPD-4F9GXD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4F9GXD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4F9GXD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4FA5DQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4FA5DQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4FB8HH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4FB8HH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4FC4TS Kennedy disease 8B61.4 Orphanet 481 TPD-4FC4TS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4FC4TS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4FC4TS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4FCCFG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4FEEDV Familial melanoma QC61.Y Orphanet 618 TPD-4FEEDV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4FFP8K Noonan syndrome LD2F.15 Orphanet 648 TPD-4FFP8K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4FFP8K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4FFP8K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4FFP8K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4FFP8K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4FFP8K Lynch syndrome 2B90.Y Orphanet 144 TPD-4FFP8K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4FFP8K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4FGHOT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4FHSRB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4FHSRB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4FHSRB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4FI4FX Familial melanoma QC61.Y Orphanet 618 TPD-4FI4FX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4FM4DV Kennedy disease 8B61.4 Orphanet 481 TPD-4FM4DV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4FM4DV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4FM4DV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4FQT68 Noonan syndrome LD2F.15 Orphanet 648 TPD-4FQT68 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4FQT68 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4FQT68 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4FQT68 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4FQT68 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4FQT68 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4FQT68 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4FQT68 Craniopharyngioma 2F9A Orphanet 54595 TPD-4FQT68 Cushing disease 5A70.0 Orphanet 96253 TPD-4FUSBL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4FUSBL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4FUSBL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4FUSBL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4FUWTM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4FUWTM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4FUWTM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4FVQ1Y Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4FVXMZ Kennedy disease 8B61.4 Orphanet 481 TPD-4FVXMZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4FVXMZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4FVXMZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4FWQX9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4FWQX9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4FWQX9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4FZJ4K CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4G2A07 Kennedy disease 8B61.4 Orphanet 481 TPD-4G2A07 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4G2A07 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4G2A07 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4G2H8J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4G3LR8 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4G3LR8 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4G3LR8 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4G3LR8 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4G3LR8 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4G3LR8 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4G3LR8 Semantic dementia 6D83 Orphanet 100069 TPD-4G3LR8 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4G4L3R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4G4L3R Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4G71EN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4G71EN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4G7BTK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4G8EYD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4G9UKZ Kennedy disease 8B61.4 Orphanet 481 TPD-4G9UKZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4G9UKZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4G9UKZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GA2F0 Kennedy disease 8B61.4 Orphanet 481 TPD-4GA2F0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4GA2F0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4GA2F0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GCKT9 Kennedy disease 8B61.4 Orphanet 481 TPD-4GCKT9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4GCKT9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4GCKT9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GDGF1 Kennedy disease 8B61.4 Orphanet 481 TPD-4GDGF1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4GDGF1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4GDGF1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GIFCT Familial melanoma QC61.Y Orphanet 618 TPD-4GIFCT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4GLPP6 Kennedy disease 8B61.4 Orphanet 481 TPD-4GLPP6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4GLPP6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4GLPP6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GRNQA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4GUVPG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4GUZLS Kennedy disease 8B61.4 Orphanet 481 TPD-4GUZLS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4GUZLS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4GUZLS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4GWPGM Noonan syndrome LD2F.15 Orphanet 648 TPD-4GWPGM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4GWPGM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4GWPGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4GWPGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4GWPGM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4GWPGM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4GWPGM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4GWPGM Craniopharyngioma 2F9A Orphanet 54595 TPD-4GWPGM Cushing disease 5A70.0 Orphanet 96253 TPD-4GXN53 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4GYM55 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4GYM55 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4GYM55 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4H19GA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4H19GA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4H19GA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4H1DK5 Kennedy disease 8B61.4 Orphanet 481 TPD-4H1DK5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4H1DK5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4H1DK5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4H2GZG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4H2GZG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4H2GZG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4H2GZG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4H83SC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4HBDY7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4HBOOA Noonan syndrome LD2F.15 Orphanet 648 TPD-4HBOOA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4HBOOA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4HBOOA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4HBOOA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4HBOOA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4HBOOA Lynch syndrome 2B90.Y Orphanet 144 TPD-4HBOOA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4HBOOA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4HG6V0 Kennedy disease 8B61.4 Orphanet 481 TPD-4HG6V0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4HG6V0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4HG6V0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4HI5F5 Noonan syndrome LD2F.15 Orphanet 648 TPD-4HI5F5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4HI5F5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4HI5F5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4HI5F5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4HI5F5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4HI5F5 Lynch syndrome 2B90.Y Orphanet 144 TPD-4HI5F5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4HI5F5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4HIUQU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4HIUQU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4HIUQU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4HIUQU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4HJ5BI Familial melanoma QC61.Y Orphanet 618 TPD-4HJ5BI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4HNJ64 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4HNJ64 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4HNJ64 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4HNJ64 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4HNZDV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4HNZDV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4HNZDV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4HOBS2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4HOBS2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4HRGVX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4HWAFZ Kennedy disease 8B61.4 Orphanet 481 TPD-4HWAFZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4HWAFZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4HWAFZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4HWO5J Kennedy disease 8B61.4 Orphanet 481 TPD-4HWO5J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4HWO5J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4HWO5J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4I2BFQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4I2P0K Kennedy disease 8B61.4 Orphanet 481 TPD-4I2P0K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4I2P0K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4I2P0K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4I6VZQ Noonan syndrome LD2F.15 Orphanet 648 TPD-4I6VZQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4I6VZQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4I6VZQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4I6VZQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4I6VZQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4I6VZQ Lynch syndrome 2B90.Y Orphanet 144 TPD-4I6VZQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4I6VZQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4I8LC7 Kennedy disease 8B61.4 Orphanet 481 TPD-4I8LC7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4I8LC7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4I8LC7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4I8S3I Noonan syndrome LD2F.15 Orphanet 648 TPD-4I8S3I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4I8S3I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4I8S3I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4I8S3I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4I8S3I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4I8S3I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4I8S3I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4I8S3I Craniopharyngioma 2F9A Orphanet 54595 TPD-4I8S3I Cushing disease 5A70.0 Orphanet 96253 TPD-4I8Y0C Noonan syndrome LD2F.15 Orphanet 648 TPD-4I8Y0C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4I8Y0C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4I8Y0C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4I8Y0C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4I8Y0C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4I8Y0C Lynch syndrome 2B90.Y Orphanet 144 TPD-4I8Y0C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4I8Y0C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4IA6XG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4IA6XG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4IEEK9 Familial melanoma QC61.Y Orphanet 618 TPD-4IEEK9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4IF1M0 Noonan syndrome LD2F.15 Orphanet 648 TPD-4IF1M0 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-4IGFNN Noonan syndrome LD2F.15 Orphanet 648 TPD-4IGFNN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4IGFNN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4IGFNN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4IGFNN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4IGFNN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4IGFNN Lynch syndrome 2B90.Y Orphanet 144 TPD-4IGFNN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4IGFNN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4IPDMY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4IUQX1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4IUQX1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4IUQX1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4IUQX1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4IVAJJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4IVAJJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4IVAJJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4IWYZ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4IWYZ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4IWYZ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4IWYZ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4IWYZ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4IWYZ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4IWYZ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-4IWYZ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4IWYZ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4J3TUN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4J66QV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4J7W4O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4J7W4O Neuroblastoma 2A00.11 Orphanet 635 TPD-4J7W4O Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-4J7W4O ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-4J7W4O ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-4JACEK Noonan syndrome LD2F.15 Orphanet 648 TPD-4JACEK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4JACEK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4JACEK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4JACEK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4JACEK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4JACEK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4JACEK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4JACEK Craniopharyngioma 2F9A Orphanet 54595 TPD-4JACEK Cushing disease 5A70.0 Orphanet 96253 TPD-4JD6VJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4JD6VJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4JD6VJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4JI1R4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4JI1R4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4JKLAK Kennedy disease 8B61.4 Orphanet 481 TPD-4JKLAK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4JKLAK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4JKLAK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4JO0UG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4JO0UG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4JO0UG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4JPQC2 Kennedy disease 8B61.4 Orphanet 481 TPD-4JPQC2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4JPQC2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4JPQC2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4JPZ9U Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-4JPZ9U Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-4JPZ9U Primary myelofibrosis 2A20.2 Orphanet 824 TPD-4JPZ9U Polycythemia vera 2A20.4 Orphanet 729 TPD-4JPZ9U Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-4JPZ9U Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-4JUUCX Noonan syndrome LD2F.15 Orphanet 648 TPD-4JUUCX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4JUUCX Metachondromatosis LD24.2Y Orphanet 2499 TPD-4JUUCX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4JWCO4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4JYESZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4JYITD Kennedy disease 8B61.4 Orphanet 481 TPD-4JYITD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4JYITD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4JYITD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4JZGIL Kennedy disease 8B61.4 Orphanet 481 TPD-4JZGIL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4JZGIL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4JZGIL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4JZO60 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4JZO60 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4JZO60 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4K1D18 Kennedy disease 8B61.4 Orphanet 481 TPD-4K1D18 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4K1D18 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4K1D18 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4K6I6U Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-4K6I6U Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-4K6I6U Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-4K6I6U Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-4K6I6U Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-4K6I6U Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-4K6I6U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4K6I6U Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-4K6I6U Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4K7XQJ Kennedy disease 8B61.4 Orphanet 481 TPD-4K7XQJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4K7XQJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4K7XQJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4K904O Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-4K904O Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-4K904O Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-4K904O Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-4K904O Craniopharyngioma 2F9A Orphanet 54595 TPD-4K904O Pilomatrixoma 2F22 Orphanet 91414 TPD-4K904O Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-4K9FOI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4K9FOI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4KEPW1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4KEPW1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4KEPW1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4KEPW1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4KEPW1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4KEPW1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4KEPW1 Lynch syndrome 2B90.Y Orphanet 144 TPD-4KEPW1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4KEPW1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4KG829 Noonan syndrome LD2F.15 Orphanet 648 TPD-4KG829 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4KG829 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4KG829 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4KG829 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4KG829 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4KG829 Lynch syndrome 2B90.Y Orphanet 144 TPD-4KG829 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4KG829 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4KI5R3 Kennedy disease 8B61.4 Orphanet 481 TPD-4KI5R3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4KI5R3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4KI5R3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4KI6HE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4KI6HE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4KI6HE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4KK1CJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4KK1CJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4KK1CJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4KMUUR Kennedy disease 8B61.4 Orphanet 481 TPD-4KMUUR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4KMUUR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4KMUUR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4KO3GZ Familial melanoma QC61.Y Orphanet 618 TPD-4KO3GZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4KR2RZ Noonan syndrome LD2F.15 Orphanet 648 TPD-4KR2RZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4KR2RZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4KR2RZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4KR2RZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4KR2RZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4KR2RZ Lynch syndrome 2B90.Y Orphanet 144 TPD-4KR2RZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4KR2RZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4KRMAB Kennedy disease 8B61.4 Orphanet 481 TPD-4KRMAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4KRMAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4KRMAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4KRR41 Noonan syndrome LD2F.15 Orphanet 648 TPD-4KRR41 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4KRR41 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4KRR41 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4KRR41 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4KRR41 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4KRR41 Lynch syndrome 2B90.Y Orphanet 144 TPD-4KRR41 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4KRR41 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4KTJ90 Kennedy disease 8B61.4 Orphanet 481 TPD-4KTJ90 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4KTJ90 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4KTJ90 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4KTWOK Noonan syndrome LD2F.15 Orphanet 648 TPD-4KTWOK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4KTWOK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4KTWOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4KTWOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4KTWOK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4KTWOK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4KTWOK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4KTWOK Craniopharyngioma 2F9A Orphanet 54595 TPD-4KTWOK Cushing disease 5A70.0 Orphanet 96253 TPD-4KUJE7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4KUJE7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4KUJE7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4KWLSH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4KZIMR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4KZIMR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4KZIMR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4KZIMR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4KZKO6 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 5C56.0Y Orphanet 2072 TPD-4KZKO6 Gaucher disease type 3 5C56.0Y Orphanet 77261 TPD-4KZKO6 Gaucher disease type 2 5C56.0Y Orphanet 77260 TPD-4KZKO6 Gaucher disease type 1 5C56.0Y Orphanet 77259 TPD-4KZKO6 Fetal Gaucher disease 5C56.0Y Orphanet 85212 TPD-4KZX5L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4KZX5L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4KZX5L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4L12AF Noonan syndrome LD2F.15 Orphanet 648 TPD-4L12AF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-4L7B0V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4L7B0V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4L7B0V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4LE1EA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4LED6Q Noonan syndrome LD2F.15 Orphanet 648 TPD-4LED6Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4LED6Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4LED6Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4LED6Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4LED6Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4LED6Q Lynch syndrome 2B90.Y Orphanet 144 TPD-4LED6Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4LED6Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4LEJ1T Noonan syndrome LD2F.15 Orphanet 648 TPD-4LEJ1T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4LEJ1T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4LEJ1T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4LEJ1T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4LEJ1T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4LEJ1T Lynch syndrome 2B90.Y Orphanet 144 TPD-4LEJ1T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4LEJ1T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4LHB1J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4LHB1J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4LN5QK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4LNMA3 Kennedy disease 8B61.4 Orphanet 481 TPD-4LNMA3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4LNMA3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4LNMA3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4LY02X Kennedy disease 8B61.4 Orphanet 481 TPD-4LY02X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4LY02X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4LY02X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4M0UHF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4M0UHF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4M0UHF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4M0UHF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4M1JKU Kennedy disease 8B61.4 Orphanet 481 TPD-4M1JKU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4M1JKU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4M1JKU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4M604I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4M604I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4M604I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4M7M70 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-4M7M70 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-4M7M70 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-4M7M70 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-4M7M70 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-4M7M70 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-4M7M70 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4M7M70 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-4M7M70 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4M8RC9 Noonan syndrome LD2F.15 Orphanet 648 TPD-4M8RC9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4M8RC9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4M8RC9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4M8RC9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4M8RC9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4M8RC9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4M8RC9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4M8RC9 Craniopharyngioma 2F9A Orphanet 54595 TPD-4M8RC9 Cushing disease 5A70.0 Orphanet 96253 TPD-4M9RYJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4MAFG5 Familial melanoma QC61.Y Orphanet 618 TPD-4MAFG5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4MDJHJ Familial melanoma QC61.Y Orphanet 618 TPD-4MDJHJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4MDVGV Achondroplasia LD24.00 Orphanet 15 TPD-4MDVGV Hypochondroplasia LD24.01 Orphanet 429 TPD-4MDVGV Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-4MDVGV Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-4MDVGV Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-4MDVGV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4MDVGV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4MDVGV Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-4MDVGV Muenke syndrome LD24.GY Orphanet 53271 TPD-4MDVGV Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-4MDVGV Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-4MDVGV Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-4MEHWV Noonan syndrome LD2F.15 Orphanet 648 TPD-4MEHWV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4MEHWV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4MEHWV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4MEHWV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4MEHWV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4MEHWV Lynch syndrome 2B90.Y Orphanet 144 TPD-4MEHWV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4MEHWV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4MFXFS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4MFXFS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4MFXIN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4MFXIN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4MFXIN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4MFXIN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4MHE0J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4MHE0J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4MHE0J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4MIDRN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4MIDRN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4MK0OZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4MK0OZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4MK0OZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4MK0OZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4MK0OZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4MK0OZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4MK0OZ Semantic dementia 6D83 Orphanet 100069 TPD-4MK0OZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4ML2YB Familial melanoma QC61.Y Orphanet 618 TPD-4ML2YB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4MNDEX Noonan syndrome LD2F.15 Orphanet 648 TPD-4MNDEX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4MNDEX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4MNDEX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4MNDEX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4MNDEX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4MNDEX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4MNDEX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4MNDEX Craniopharyngioma 2F9A Orphanet 54595 TPD-4MNDEX Cushing disease 5A70.0 Orphanet 96253 TPD-4MNQAZ Kennedy disease 8B61.4 Orphanet 481 TPD-4MNQAZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4MNQAZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4MNQAZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4MQHB1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4MQHB1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4MRJPS Huntington disease 8A01.10 Orphanet 399 TPD-4MSXTR Kennedy disease 8B61.4 Orphanet 481 TPD-4MSXTR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4MSXTR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4MSXTR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4MUZEI Noonan syndrome LD2F.15 Orphanet 648 TPD-4MUZEI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4MUZEI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4MUZEI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4MUZEI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4MUZEI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4MUZEI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4MUZEI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4MUZEI Craniopharyngioma 2F9A Orphanet 54595 TPD-4MUZEI Cushing disease 5A70.0 Orphanet 96253 TPD-4MWH69 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4MWH69 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4MWH69 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4MWH69 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4MX460 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4MX460 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4MX460 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4N1ATL Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-4N1ATL Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-4N1ATL Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-4N1ATL Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-4N1ATL Primary myelofibrosis 2A20.2 Orphanet 824 TPD-4N1ATL Polycythemia vera 2A20.4 Orphanet 729 TPD-4N1ATL Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-4N31QX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4N31QX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4N31QX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4N58TY Kennedy disease 8B61.4 Orphanet 481 TPD-4N58TY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4N58TY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4N58TY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4N5W3I Kennedy disease 8B61.4 Orphanet 481 TPD-4N5W3I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4N5W3I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4N5W3I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4N68ZT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4N68ZT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4N8Q27 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4N8Q27 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4N8Q27 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4NAUDT Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-4NEZZS Noonan syndrome LD2F.15 Orphanet 648 TPD-4NEZZS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4NEZZS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4NEZZS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4NEZZS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4NEZZS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4NEZZS Lynch syndrome 2B90.Y Orphanet 144 TPD-4NEZZS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4NEZZS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4NOUQU Noonan syndrome LD2F.15 Orphanet 648 TPD-4NOUQU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4NOUQU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4NOUQU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4NOUQU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4NOUQU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4NOUQU Lynch syndrome 2B90.Y Orphanet 144 TPD-4NOUQU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4NOUQU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4NSF2V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4NVF09 Kennedy disease 8B61.4 Orphanet 481 TPD-4NVF09 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4NVF09 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4NVF09 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4NW8EG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4NY9LJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4O0URX Noonan syndrome LD2F.15 Orphanet 648 TPD-4O0URX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4O0URX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4O0URX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4O0URX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4O0URX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4O0URX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4O0URX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4O0URX Craniopharyngioma 2F9A Orphanet 54595 TPD-4O0URX Cushing disease 5A70.0 Orphanet 96253 TPD-4O7V7C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4O98LG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4O98LG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4O98LG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4OBPY1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4OBPY1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4OBPY1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4OBPY1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4OBPY1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4OBPY1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4OBPY1 Lynch syndrome 2B90.Y Orphanet 144 TPD-4OBPY1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4OBPY1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4OCFSY Kennedy disease 8B61.4 Orphanet 481 TPD-4OCFSY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4OCFSY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4OCFSY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4OCW73 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4OIEMO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4OV8N8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4OV8N8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4OV8N8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4OWT58 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4OX28R Kennedy disease 8B61.4 Orphanet 481 TPD-4OX28R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4OX28R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4OX28R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4OXJ24 Noonan syndrome LD2F.15 Orphanet 648 TPD-4OXJ24 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4OXJ24 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4OXJ24 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4OXJ24 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4OXJ24 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4OXJ24 Lynch syndrome 2B90.Y Orphanet 144 TPD-4OXJ24 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4OXJ24 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4OYO47 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4P1XRB Noonan syndrome LD2F.15 Orphanet 648 TPD-4P1XRB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4P1XRB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4P1XRB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4P1XRB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4P1XRB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4P1XRB Lynch syndrome 2B90.Y Orphanet 144 TPD-4P1XRB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4P1XRB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4P4TJ1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4P697X Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4P6BY0 Familial melanoma QC61.Y Orphanet 618 TPD-4P6BY0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4P83I6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4P8A8G Noonan syndrome LD2F.15 Orphanet 648 TPD-4P8A8G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4P8A8G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4P8A8G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4P8A8G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4P8A8G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4P8A8G Lynch syndrome 2B90.Y Orphanet 144 TPD-4P8A8G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4P8A8G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4PAMCT Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-4PAMCT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-4PD5I1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4PD5I1 Neuroblastoma 2A00.11 Orphanet 635 TPD-4PD5I1 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-4PD5I1 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-4PD5I1 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-4PEP2L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4PEP2L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4PEP2L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4PF81J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4PHSFY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4PHSFY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4PHSFY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4PHSFY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4PJWQY Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-4POGLN Noonan syndrome LD2F.15 Orphanet 648 TPD-4POGLN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-4PPEVK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4PPEVK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4PTMYJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4PTMYJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4PTZAL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4PTZAL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4PTZAL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4PTZAL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4PZHXV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4Q018U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4Q018U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4Q0OWR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4Q3VAR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4Q3VAR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4Q3VAR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4Q3VAR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4Q4C04 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4Q4C04 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-4Q4C04 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4Q5KE8 Familial melanoma QC61.Y Orphanet 618 TPD-4Q5KE8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4Q5T9I Noonan syndrome LD2F.15 Orphanet 648 TPD-4Q5T9I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4Q5T9I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4Q5T9I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4Q5T9I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4Q5T9I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4Q5T9I Lynch syndrome 2B90.Y Orphanet 144 TPD-4Q5T9I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4Q5T9I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4Q62XR Noonan syndrome LD2F.15 Orphanet 648 TPD-4Q62XR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4Q62XR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4Q62XR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4Q62XR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4Q62XR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4Q62XR Lynch syndrome 2B90.Y Orphanet 144 TPD-4Q62XR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4Q62XR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4QBAA1 Kennedy disease 8B61.4 Orphanet 481 TPD-4QBAA1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4QBAA1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4QBAA1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4QBZI2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4QBZI2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4QBZI2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4QE74E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4QE74E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4QE8R3 Noonan syndrome LD2F.15 Orphanet 648 TPD-4QE8R3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4QE8R3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4QE8R3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4QE8R3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4QE8R3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4QE8R3 Lynch syndrome 2B90.Y Orphanet 144 TPD-4QE8R3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4QE8R3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4QKMJ1 Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-4QMIBS Burkitt lymphoma XH4KA9 Orphanet 543 TPD-4QMIBS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4QMIBS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4QNFLM Familial melanoma QC61.Y Orphanet 618 TPD-4QNFLM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4QVRFK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4QVRFK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4QVRFK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4QVW3O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4QVW3O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4QWL6Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4QXMN8 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4QZO6G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4QZO6G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4QZO6G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4QZO6G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4R0BRF Kennedy disease 8B61.4 Orphanet 481 TPD-4R0BRF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4R0BRF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4R0BRF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4R1BFA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4R415U Kennedy disease 8B61.4 Orphanet 481 TPD-4R415U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4R415U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4R415U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4R5Y0Q Noonan syndrome LD2F.15 Orphanet 648 TPD-4R5Y0Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4R5Y0Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4R5Y0Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4R5Y0Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4R5Y0Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4R5Y0Q Lynch syndrome 2B90.Y Orphanet 144 TPD-4R5Y0Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4R5Y0Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4RCP2F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4RCP2F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4RCP2F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4RCP2F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4RCV3E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4RCV3E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4RCV3E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4RHPN0 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4RHPN0 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4RM1BR Noonan syndrome LD2F.15 Orphanet 648 TPD-4RM1BR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4RM1BR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4RM1BR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4RM1BR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4RM1BR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4RM1BR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4RM1BR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4RM1BR Craniopharyngioma 2F9A Orphanet 54595 TPD-4RM1BR Cushing disease 5A70.0 Orphanet 96253 TPD-4RO0KW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4RO0KW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4RO0KW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4RO0KW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4RPPLR Noonan syndrome LD2F.15 Orphanet 648 TPD-4RPPLR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4RPPLR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4RPPLR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4RPPLR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4RPPLR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4RPPLR Lynch syndrome 2B90.Y Orphanet 144 TPD-4RPPLR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4RPPLR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4RSE8N Familial melanoma QC61.Y Orphanet 618 TPD-4RSE8N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4RTXJ7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4RTXJ7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4RUA55 Kennedy disease 8B61.4 Orphanet 481 TPD-4RUA55 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4RUA55 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4RUA55 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4RWTI1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4RWTI1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4RWTI1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4RWTI1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4RWTI1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4RWTI1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4RWTI1 Lynch syndrome 2B90.Y Orphanet 144 TPD-4RWTI1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4RWTI1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4S1E29 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4S1E29 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4S1E29 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4S36AA X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-4S55PV Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-4S5NH9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4S5NH9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4S5NH9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4S5PLC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4S7RHK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4S932U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4S932U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4S932U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4S932U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4S9ACT Noonan syndrome LD2F.15 Orphanet 648 TPD-4S9ACT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4S9ACT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4S9ACT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4S9ACT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4S9ACT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4S9ACT Lynch syndrome 2B90.Y Orphanet 144 TPD-4S9ACT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4S9ACT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4S9TCY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4S9TCY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4SAH8S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4SAH8S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4SAH8S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4SAH8S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4SHHXD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4SHHXD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4SHKHX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4SJOZS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4SJOZS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4SJOZS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4SJOZS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4SNPKN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4SNPKN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4SNPKN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4SOP7J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4SOP7J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4SOP7J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4SOP7J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4SPA5D Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4SQHTH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4SQHTH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4SQORT Familial melanoma QC61.Y Orphanet 618 TPD-4SQORT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4SR26N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4STYZE Noonan syndrome LD2F.15 Orphanet 648 TPD-4STYZE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4STYZE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4STYZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4STYZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4STYZE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4STYZE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4STYZE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4STYZE Craniopharyngioma 2F9A Orphanet 54595 TPD-4STYZE Cushing disease 5A70.0 Orphanet 96253 TPD-4SV7E5 Noonan syndrome LD2F.15 Orphanet 648 TPD-4SV7E5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4SV7E5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4SV7E5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4SV7E5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4SV7E5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4SV7E5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4SV7E5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4SV7E5 Craniopharyngioma 2F9A Orphanet 54595 TPD-4SV7E5 Cushing disease 5A70.0 Orphanet 96253 TPD-4SVI2F Kennedy disease 8B61.4 Orphanet 481 TPD-4SVI2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4SVI2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4SVI2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4SVV1T Noonan syndrome LD2F.15 Orphanet 648 TPD-4SVV1T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4SVV1T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4SVV1T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4SVV1T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4SVV1T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4SVV1T Lynch syndrome 2B90.Y Orphanet 144 TPD-4SVV1T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4SVV1T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4SZN7R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4SZN7R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4SZN7R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4T0FUI Kennedy disease 8B61.4 Orphanet 481 TPD-4T0FUI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4T0FUI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4T0FUI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4T0KB0 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4T0KB0 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4T271C Noonan syndrome LD2F.15 Orphanet 648 TPD-4T271C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4T271C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4T271C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4T271C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4T271C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4T271C Lynch syndrome 2B90.Y Orphanet 144 TPD-4T271C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4T271C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4T2J9A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4T2SEJ Noonan syndrome LD2F.15 Orphanet 648 TPD-4T2SEJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-4T4OY4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4T4OY4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4T4OY4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4T4OY4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4T4OY4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4T4OY4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4T4OY4 Semantic dementia 6D83 Orphanet 100069 TPD-4T4OY4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4TC1V0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4TGIRH Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-4TGIRH Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-4TGIRH Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-4TGIRH Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-4TGIRH Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-4TGIRH Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-4TGIRH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4TGIRH Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-4TGIRH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4THP5A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4THP5A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4TKS2R Kennedy disease 8B61.4 Orphanet 481 TPD-4TKS2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4TKS2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4TKS2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4TNMBP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4TNNGP Kennedy disease 8B61.4 Orphanet 481 TPD-4TNNGP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4TNNGP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4TNNGP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4TOOQH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4TOOQH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4TOOQH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4TOOQH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4TPZF8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4TPZF8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4TPZF8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4TQ7EC Kennedy disease 8B61.4 Orphanet 481 TPD-4TQ7EC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4TQ7EC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4TQ7EC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4TVMHY Familial melanoma QC61.Y Orphanet 618 TPD-4TVMHY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4TYDBX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-4TYNVY Noonan syndrome LD2F.15 Orphanet 648 TPD-4TYNVY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4TYNVY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4TYNVY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4TYNVY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4TYNVY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4TYNVY Lynch syndrome 2B90.Y Orphanet 144 TPD-4TYNVY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4TYNVY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4U046F Noonan syndrome LD2F.15 Orphanet 648 TPD-4U046F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4U046F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4U046F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4U046F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4U046F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4U046F Lynch syndrome 2B90.Y Orphanet 144 TPD-4U046F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4U046F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4U0QUE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4U0QUE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4U359S Noonan syndrome LD2F.15 Orphanet 648 TPD-4U359S Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-4U7KMJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-4U7KMJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-4U7KMJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-4U7KMJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-4U7KMJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-4U7KMJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-4U7KMJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4U7KMJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-4U7KMJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4UB8S1 Noonan syndrome LD2F.15 Orphanet 648 TPD-4UB8S1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4UB8S1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4UB8S1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4UB8S1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4UB8S1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4UB8S1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4UB8S1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4UB8S1 Craniopharyngioma 2F9A Orphanet 54595 TPD-4UB8S1 Cushing disease 5A70.0 Orphanet 96253 TPD-4UDD1M Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-4UDD1M Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-4UDD1M Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-4UDD1M Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-4UDD1M Primary myelofibrosis 2A20.2 Orphanet 824 TPD-4UDD1M Polycythemia vera 2A20.4 Orphanet 729 TPD-4UDD1M Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-4UG3G8 Noonan syndrome LD2F.15 Orphanet 648 TPD-4UG3G8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4UG3G8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4UG3G8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4UG3G8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4UG3G8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4UG3G8 Lynch syndrome 2B90.Y Orphanet 144 TPD-4UG3G8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4UG3G8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4UJ2TJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4UJ2TJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4UJ2TJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4UJ2TJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4UK9PC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4UK9PC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4UK9PC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4ULAHK Kennedy disease 8B61.4 Orphanet 481 TPD-4ULAHK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4ULAHK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4ULAHK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4UNEPH Familial melanoma QC61.Y Orphanet 618 TPD-4UNEPH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4UVJ31 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4UVJ31 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4UVJ31 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4UVWQR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-4UWFTT Kennedy disease 8B61.4 Orphanet 481 TPD-4UWFTT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4UWFTT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4UWFTT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4UY5W0 Weaver syndrome LD2C Orphanet 3447 TPD-4UYCRY Familial melanoma QC61.Y Orphanet 618 TPD-4UYCRY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4UYHQO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4V0BZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4V0BZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4V0BZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4V0BZR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4V4IK1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4V4IK1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4V4IK1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4V4IK1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4V4IK1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4V4IK1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4V4IK1 Semantic dementia 6D83 Orphanet 100069 TPD-4V4IK1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4V81E3 Kennedy disease 8B61.4 Orphanet 481 TPD-4V81E3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4V81E3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4V81E3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4V8ZNR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4V8ZNR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4V8ZNR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4VAUQT Familial melanoma QC61.Y Orphanet 618 TPD-4VAUQT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4VCHT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-4VCHT2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4VCHT2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4VCHT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4VCHT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4VCHT2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4VCHT2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4VCHT2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4VCHT2 Craniopharyngioma 2F9A Orphanet 54595 TPD-4VCHT2 Cushing disease 5A70.0 Orphanet 96253 TPD-4VFI4M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4VFI4M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4VGV5R Familial melanoma QC61.Y Orphanet 618 TPD-4VGV5R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4VISU0 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-4VISU0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4VNR4X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4VNR4X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4VVE88 Kennedy disease 8B61.4 Orphanet 481 TPD-4VVE88 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4VVE88 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4VVE88 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4VY0I0 Kennedy disease 8B61.4 Orphanet 481 TPD-4VY0I0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4VY0I0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4VY0I0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4VYS4O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-4VYS4O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-4W1N2P Noonan syndrome LD2F.15 Orphanet 648 TPD-4W1N2P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4W1N2P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4W1N2P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4W1N2P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4W1N2P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4W1N2P Lynch syndrome 2B90.Y Orphanet 144 TPD-4W1N2P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4W1N2P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4W6XO0 Noonan syndrome LD2F.15 Orphanet 648 TPD-4W6XO0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4W6XO0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4W6XO0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4W6XO0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4W6XO0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4W6XO0 Lynch syndrome 2B90.Y Orphanet 144 TPD-4W6XO0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4W6XO0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4WBB1C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4WBQMQ Kennedy disease 8B61.4 Orphanet 481 TPD-4WBQMQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WBQMQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WBQMQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WH6AR Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4WH6AR Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4WH6AR Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4WH6AR Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4WH6AR Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4WH6AR Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4WH6AR Semantic dementia 6D83 Orphanet 100069 TPD-4WH6AR Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4WHC5C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4WHC5C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4WHC5C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4WIOQP Kennedy disease 8B61.4 Orphanet 481 TPD-4WIOQP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WIOQP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WIOQP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WMS2N Noonan syndrome LD2F.15 Orphanet 648 TPD-4WMS2N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4WMS2N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4WMS2N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4WMS2N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4WMS2N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4WMS2N Lynch syndrome 2B90.Y Orphanet 144 TPD-4WMS2N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4WMS2N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4WNL25 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4WNL25 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4WNL25 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4WQ6WK Kennedy disease 8B61.4 Orphanet 481 TPD-4WQ6WK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WQ6WK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WQ6WK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WW8DJ Kennedy disease 8B61.4 Orphanet 481 TPD-4WW8DJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WW8DJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WW8DJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WX3PW Kennedy disease 8B61.4 Orphanet 481 TPD-4WX3PW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WX3PW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WX3PW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WZPJ2 Kennedy disease 8B61.4 Orphanet 481 TPD-4WZPJ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4WZPJ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4WZPJ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4WZPL8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4X2IQG Kennedy disease 8B61.4 Orphanet 481 TPD-4X2IQG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4X2IQG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4X2IQG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4X35DT Noonan syndrome LD2F.15 Orphanet 648 TPD-4X35DT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4X35DT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4X35DT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4X35DT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4X35DT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4X35DT Lynch syndrome 2B90.Y Orphanet 144 TPD-4X35DT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4X35DT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4X6RCZ Kennedy disease 8B61.4 Orphanet 481 TPD-4X6RCZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4X6RCZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4X6RCZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4XCF5K Kennedy disease 8B61.4 Orphanet 481 TPD-4XCF5K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4XCF5K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4XCF5K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4XJNXW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4XKAWN Noonan syndrome LD2F.15 Orphanet 648 TPD-4XKAWN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4XKAWN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4XKAWN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4XKAWN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4XKAWN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4XKAWN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4XKAWN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4XKAWN Craniopharyngioma 2F9A Orphanet 54595 TPD-4XKAWN Cushing disease 5A70.0 Orphanet 96253 TPD-4XRC8O Noonan syndrome LD2F.15 Orphanet 648 TPD-4XRC8O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4XRC8O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4XRC8O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4XRC8O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4XRC8O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4XRC8O Lynch syndrome 2B90.Y Orphanet 144 TPD-4XRC8O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4XRC8O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4XRS4H CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-4XRS5S Noonan syndrome LD2F.15 Orphanet 648 TPD-4XRS5S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4XRS5S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4XRS5S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4XRS5S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4XRS5S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4XRS5S Lynch syndrome 2B90.Y Orphanet 144 TPD-4XRS5S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4XRS5S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4XSW5L Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-4Y1SD4 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-4Y42OT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4Y42OT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4Y42OT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4Y42OT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-4Y7PAA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4YA5EX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4YA5EX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4YA5EX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4YAFR4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4YJM1V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4YJM1V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4YJM1V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4YNL4A Kennedy disease 8B61.4 Orphanet 481 TPD-4YNL4A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4YNL4A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4YNL4A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4YNUFT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-4YNUFT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-4YNUFT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-4YNUFT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-4YNUFT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-4YNUFT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-4YNUFT Semantic dementia 6D83 Orphanet 100069 TPD-4YNUFT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-4YOC6F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-4YOC6F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-4YPGT6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4YYMS8 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-4Z040H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-4Z0V2V Noonan syndrome LD2F.15 Orphanet 648 TPD-4Z0V2V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4Z0V2V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4Z0V2V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4Z0V2V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4Z0V2V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4Z0V2V Lynch syndrome 2B90.Y Orphanet 144 TPD-4Z0V2V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4Z0V2V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4ZF21X Kennedy disease 8B61.4 Orphanet 481 TPD-4ZF21X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-4ZF21X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-4ZF21X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-4ZGK7B Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-4ZGK7B Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-4ZHTIH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-4ZHTIH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-4ZHTIH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4ZISIU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4ZISIU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4ZISIU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4ZKP31 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-4ZKP31 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-4ZKP31 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-4ZKP31 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-4ZKP31 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-4ZKP31 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-4ZKP31 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-4ZKP31 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-4ZKP31 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-4ZP94Q Noonan syndrome LD2F.15 Orphanet 648 TPD-4ZP94Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-4ZP94Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4ZP94Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-4ZP94Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4ZP94Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-4ZP94Q Lynch syndrome 2B90.Y Orphanet 144 TPD-4ZP94Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-4ZP94Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-4ZQKJP Achondroplasia LD24.00 Orphanet 15 TPD-4ZQKJP Hypochondroplasia LD24.01 Orphanet 429 TPD-4ZQKJP Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-4ZQKJP Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-4ZQKJP Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-4ZQKJP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4ZQKJP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4ZQKJP Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-4ZQKJP Muenke syndrome LD24.GY Orphanet 53271 TPD-4ZQKJP Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-4ZQKJP Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-4ZQKJP Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-4ZUKXB Familial melanoma QC61.Y Orphanet 618 TPD-4ZUKXB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-4ZVJBG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-4ZVJBG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-4ZWBCU Noonan syndrome LD2F.15 Orphanet 648 TPD-4ZWBCU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-4ZWBCU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-4ZWBCU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-4ZWBCU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-4ZWBCU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-4ZWBCU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-4ZWBCU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-4ZWBCU Craniopharyngioma 2F9A Orphanet 54595 TPD-4ZWBCU Cushing disease 5A70.0 Orphanet 96253 TPD-4ZXJU8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-4ZXJU8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-4ZXJU8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-4ZYHZW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5028TM Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-5028TM Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-5028TM Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-5028TM Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-5028TM Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-502FA3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-502FA3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-503WXW Kennedy disease 8B61.4 Orphanet 481 TPD-503WXW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-503WXW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-503WXW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-505NDD Kennedy disease 8B61.4 Orphanet 481 TPD-505NDD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-505NDD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-505NDD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-507W4T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-507W4T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-507W4T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-50A8O8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-50A8O8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-50D6UL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-50E21H Noonan syndrome LD2F.15 Orphanet 648 TPD-50E21H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-50E21H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-50E21H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-50E21H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-50E21H Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-50E21H Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-50E21H Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-50E21H Craniopharyngioma 2F9A Orphanet 54595 TPD-50E21H Cushing disease 5A70.0 Orphanet 96253 TPD-50G3AP Noonan syndrome LD2F.15 Orphanet 648 TPD-50G3AP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-50G3AP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-50G3AP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-50G3AP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-50G3AP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-50G3AP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-50G3AP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-50G3AP Craniopharyngioma 2F9A Orphanet 54595 TPD-50G3AP Cushing disease 5A70.0 Orphanet 96253 TPD-50GC2F Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-50KLMB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-50KLMB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-50N0R6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-50N0R6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-50N0R6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-50TX2E Kennedy disease 8B61.4 Orphanet 481 TPD-50TX2E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-50TX2E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-50TX2E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-50UL2A Kennedy disease 8B61.4 Orphanet 481 TPD-50UL2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-50UL2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-50UL2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-50W055 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-510GL4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-510GL4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-510GL4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-515U9N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-515U9N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-516Q9X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-516Q9X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-516Q9X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-516Q9X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-517O2K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-517O2K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-51825Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-51825Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-51825Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-51ABQO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-51AC9Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-51AC9Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-51AS8A Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-51AS8A Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-51AS8A Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-51AS8A Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-51AS8A Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-51AS8A Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-51AS8A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-51AS8A Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-51AS8A Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-51CQP2 Kennedy disease 8B61.4 Orphanet 481 TPD-51CQP2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51CQP2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51CQP2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51CVC1 Kennedy disease 8B61.4 Orphanet 481 TPD-51CVC1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51CVC1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51CVC1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51CXJR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-51DZIE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-51DZIE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-51DZIE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-51DZIE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-51FB5Y Noonan syndrome LD2F.15 Orphanet 648 TPD-51FB5Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-51FB5Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-51FB5Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-51FB5Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-51FB5Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-51FB5Y Lynch syndrome 2B90.Y Orphanet 144 TPD-51FB5Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-51FB5Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-51K260 Kennedy disease 8B61.4 Orphanet 481 TPD-51K260 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51K260 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51K260 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51NYUQ Kennedy disease 8B61.4 Orphanet 481 TPD-51NYUQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51NYUQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51NYUQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51OCCN Kennedy disease 8B61.4 Orphanet 481 TPD-51OCCN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51OCCN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51OCCN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51P05A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-51R7JD Noonan syndrome LD2F.15 Orphanet 648 TPD-51R7JD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-51R7JD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-51R7JD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-51R7JD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-51R7JD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-51R7JD Lynch syndrome 2B90.Y Orphanet 144 TPD-51R7JD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-51R7JD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-51UHT2 Kennedy disease 8B61.4 Orphanet 481 TPD-51UHT2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-51UHT2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-51UHT2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-51W0GW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-51XMTI Noonan syndrome LD2F.15 Orphanet 648 TPD-51XMTI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-51XMTI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-51XMTI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-51XMTI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-51XMTI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-51XMTI Lynch syndrome 2B90.Y Orphanet 144 TPD-51XMTI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-51XMTI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-51XQ2O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-51XQ2O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-51XQ2O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-51XQ2O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-51ZWFR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-52077I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-523Z99 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-52444Q Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-52444Q Neuroblastoma 2A00.11 Orphanet 635 TPD-52444Q Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-52444Q ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-52444Q ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-526GCJ Kennedy disease 8B61.4 Orphanet 481 TPD-526GCJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-526GCJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-526GCJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-528HCM Kennedy disease 8B61.4 Orphanet 481 TPD-528HCM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-528HCM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-528HCM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5293NU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5293NU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5293NU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5293NU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-52BDBQ Kennedy disease 8B61.4 Orphanet 481 TPD-52BDBQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-52BDBQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-52BDBQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-52G0JT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-52GJIU Kennedy disease 8B61.4 Orphanet 481 TPD-52GJIU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-52GJIU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-52GJIU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-52I1SQ Familial melanoma QC61.Y Orphanet 618 TPD-52IR46 Familial melanoma QC61.Y Orphanet 618 TPD-52IR46 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-52LJCU Noonan syndrome LD2F.15 Orphanet 648 TPD-52LJCU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-52LJCU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-52LJCU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-52LJCU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-52LJCU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-52LJCU Lynch syndrome 2B90.Y Orphanet 144 TPD-52LJCU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-52LJCU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-52LP5O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-52LP5O Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-52LP5O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-52O8TR Familial melanoma QC61.Y Orphanet 618 TPD-52O8TR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-52OOP2 Noonan syndrome LD2F.15 Orphanet 648 TPD-52OOP2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-52OOP2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-52OOP2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-52OOP2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-52OOP2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-52OOP2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-52OOP2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-52OOP2 Craniopharyngioma 2F9A Orphanet 54595 TPD-52OOP2 Cushing disease 5A70.0 Orphanet 96253 TPD-52P67D Kennedy disease 8B61.4 Orphanet 481 TPD-52P67D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-52P67D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-52P67D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-52R0OJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-52R0OJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-52R0OJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-52R0OJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-52WNFN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-52WNFN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-530S6R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-530S6R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-534B4F Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-535N3X Kennedy disease 8B61.4 Orphanet 481 TPD-535N3X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-535N3X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-535N3X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-53ALKL Kennedy disease 8B61.4 Orphanet 481 TPD-53ALKL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-53ALKL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-53ALKL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-53GILF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-53GILF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-53GJDJ Kennedy disease 8B61.4 Orphanet 481 TPD-53GJDJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-53GJDJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-53GJDJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-53J7Q8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-53JEBZ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-53JFN0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-53JFN0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-53JFN0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-53JFN0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-53JFN0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-53JFN0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-53JFN0 Semantic dementia 6D83 Orphanet 100069 TPD-53JFN0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-53OQMW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-53PSYR Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-53PSYR Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-53PSYR Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-53PSYR Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-53PSYR Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-53PSYR Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-53PSYR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-53PSYR Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-53PSYR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-53VKIT Familial melanoma QC61.Y Orphanet 618 TPD-53VKIT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-53W5E7 Kennedy disease 8B61.4 Orphanet 481 TPD-53W5E7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-53W5E7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-53W5E7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-53Y2L3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-53YT2K Kennedy disease 8B61.4 Orphanet 481 TPD-53YT2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-53YT2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-53YT2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-541M8X Noonan syndrome LD2F.15 Orphanet 648 TPD-541M8X Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-549KVW Kennedy disease 8B61.4 Orphanet 481 TPD-549KVW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-549KVW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-549KVW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-54BYA2 Noonan syndrome LD2F.15 Orphanet 648 TPD-54BYA2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-54BYA2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-54BYA2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-54BYA2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-54BYA2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-54BYA2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-54BYA2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-54BYA2 Craniopharyngioma 2F9A Orphanet 54595 TPD-54BYA2 Cushing disease 5A70.0 Orphanet 96253 TPD-54D3M5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-54D3M5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-54D3M5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-54D3M5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-54GZ20 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-54GZ20 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-54K3SR Noonan syndrome LD2F.15 Orphanet 648 TPD-54K3SR Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-54QCFY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-54QCFY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-54UYH2 Kennedy disease 8B61.4 Orphanet 481 TPD-54UYH2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-54UYH2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-54UYH2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-54X7OS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-54X811 Noonan syndrome LD2F.15 Orphanet 648 TPD-54X811 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-54X811 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-54X811 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-54X811 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-54X811 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-54X811 Lynch syndrome 2B90.Y Orphanet 144 TPD-54X811 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-54X811 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-54Y8D8 Noonan syndrome LD2F.15 Orphanet 648 TPD-54Y8D8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-54YMX6 Kennedy disease 8B61.4 Orphanet 481 TPD-54YMX6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-54YMX6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-54YMX6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-552OGS Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-552OGS Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-552OGS Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-552OGS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-552OGS Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-552OGS Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-552OGS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-552OGS Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-552OGS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-557YNP Kennedy disease 8B61.4 Orphanet 481 TPD-557YNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-557YNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-557YNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-55AB1F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-55AB1F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-55AB1F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-55AB1F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-55AB1F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-55AB1F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-55AB1F Semantic dementia 6D83 Orphanet 100069 TPD-55AB1F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-55C1UC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-55H4OP Kennedy disease 8B61.4 Orphanet 481 TPD-55H4OP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-55H4OP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-55H4OP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-55JSJX Kennedy disease 8B61.4 Orphanet 481 TPD-55JSJX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-55JSJX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-55JSJX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-55L76L X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-55L76L Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-55OQET Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-55OQET Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-55OQET Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-55TR00 Noonan syndrome LD2F.15 Orphanet 648 TPD-55TR00 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-55TR00 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-55TR00 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-55TR00 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-55TR00 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-55TR00 Lynch syndrome 2B90.Y Orphanet 144 TPD-55TR00 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-55TR00 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-55XH4Z Kennedy disease 8B61.4 Orphanet 481 TPD-55XH4Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-55XH4Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-55XH4Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-55XRGI Noonan syndrome LD2F.15 Orphanet 648 TPD-55XRGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-55XRGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-55XRGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-55XRGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-55XRGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-55XRGI Lynch syndrome 2B90.Y Orphanet 144 TPD-55XRGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-55XRGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5628E9 Familial melanoma QC61.Y Orphanet 618 TPD-5628E9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-563UWP Kennedy disease 8B61.4 Orphanet 481 TPD-563UWP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-563UWP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-563UWP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-564HZT Noonan syndrome LD2F.15 Orphanet 648 TPD-564HZT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-564HZT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-564HZT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-564HZT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-564HZT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-564HZT Lynch syndrome 2B90.Y Orphanet 144 TPD-564HZT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-564HZT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-568UNP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-56AY1J Familial melanoma QC61.Y Orphanet 618 TPD-56AY1J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-56DMYN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-56ED86 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-56ED86 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-56ED86 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-56GBVQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-56GBVQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-56GSMA Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-56GSMA Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-56II01 Noonan syndrome LD2F.15 Orphanet 648 TPD-56II01 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-56II01 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-56II01 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-56II01 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-56II01 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-56II01 Lynch syndrome 2B90.Y Orphanet 144 TPD-56II01 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-56II01 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-56JXPN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-56JXPN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-56JXPN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-56JXPN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-56JZWA Kennedy disease 8B61.4 Orphanet 481 TPD-56JZWA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-56JZWA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-56JZWA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-56MD5V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-56MD5V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-56OLM1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-56OLM1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-56OLM1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-56OLM1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-56STKI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-56STKI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-56VC57 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-56VC57 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-56VZ7G Kennedy disease 8B61.4 Orphanet 481 TPD-56VZ7G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-56VZ7G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-56VZ7G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-56XABI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-56XNGO Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-56XNGO Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-56XNGO Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-56YKDG Noonan syndrome LD2F.15 Orphanet 648 TPD-56YKDG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-56YKDG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-56YKDG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-56YKDG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-56YKDG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-56YKDG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-56YKDG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-56YKDG Craniopharyngioma 2F9A Orphanet 54595 TPD-56YKDG Cushing disease 5A70.0 Orphanet 96253 TPD-5703K5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-570I5N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-570I5N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-571SYW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-571SYW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-571SYW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-572DL9 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-575NIU Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-576VQ6 Hirschsprung disease LB16.1 Orphanet 388 TPD-576VQ6 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-576VQ6 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-576XBX Kennedy disease 8B61.4 Orphanet 481 TPD-576XBX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-576XBX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-576XBX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-57BJ4E Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-57BJ4E Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-57BJ4E Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-57BJ4E Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-57BJ4E Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-57BJ4E Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-57BJ4E Semantic dementia 6D83 Orphanet 100069 TPD-57BJ4E Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-57C15T Kennedy disease 8B61.4 Orphanet 481 TPD-57C15T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-57C15T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-57C15T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-57CR3R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-57CR3R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-57F7LD Noonan syndrome LD2F.15 Orphanet 648 TPD-57F7LD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-57F7LD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-57F7LD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-57F7LD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-57F7LD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-57F7LD Lynch syndrome 2B90.Y Orphanet 144 TPD-57F7LD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-57F7LD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-57HEWK Familial melanoma QC61.Y Orphanet 618 TPD-57K0OM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-57K0OM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-57K0OM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-57K0OM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-57NJGB Noonan syndrome LD2F.15 Orphanet 648 TPD-57NJGB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-57NJGB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-57NJGB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-57NJGB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-57NJGB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-57NJGB Lynch syndrome 2B90.Y Orphanet 144 TPD-57NJGB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-57NJGB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-57NYNE Kennedy disease 8B61.4 Orphanet 481 TPD-57NYNE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-57NYNE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-57NYNE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-57O1I9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-57O1I9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-57QO9Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-57QO9Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-57Z33O Noonan syndrome LD2F.15 Orphanet 648 TPD-57Z33O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-57Z33O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-57Z33O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-57Z33O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-57Z33O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-57Z33O Lynch syndrome 2B90.Y Orphanet 144 TPD-57Z33O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-57Z33O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-582K3H Familial melanoma QC61.Y Orphanet 618 TPD-582K3H Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-582LW7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-583QIR Kennedy disease 8B61.4 Orphanet 481 TPD-583QIR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-583QIR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-583QIR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5843VV Kennedy disease 8B61.4 Orphanet 481 TPD-5843VV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5843VV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5843VV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-586T1C Kennedy disease 8B61.4 Orphanet 481 TPD-586T1C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-586T1C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-586T1C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5877XG Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-58DC5Y Kennedy disease 8B61.4 Orphanet 481 TPD-58DC5Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-58DC5Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-58DC5Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-58IT12 Noonan syndrome LD2F.15 Orphanet 648 TPD-58IT12 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-58IT12 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-58IT12 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-58IT12 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-58IT12 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-58IT12 Lynch syndrome 2B90.Y Orphanet 144 TPD-58IT12 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-58IT12 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-58J23D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-58JUKI Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-58JUKI Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-58JUKI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-58JUKI Distal myopathy, Welander type 8C75 Orphanet 603 TPD-58JVM2 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-58JVM2 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-58JVM2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-58JVM2 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-58LXL6 Noonan syndrome LD2F.15 Orphanet 648 TPD-58LXL6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-58LXL6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-58LXL6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-58LXL6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-58LXL6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-58LXL6 Lynch syndrome 2B90.Y Orphanet 144 TPD-58LXL6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-58LXL6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-58MJOY Noonan syndrome LD2F.15 Orphanet 648 TPD-58MJOY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-58MJOY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-58MJOY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-58MJOY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-58MJOY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-58MJOY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-58MJOY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-58MJOY Craniopharyngioma 2F9A Orphanet 54595 TPD-58MJOY Cushing disease 5A70.0 Orphanet 96253 TPD-58OZ6D Noonan syndrome LD2F.15 Orphanet 648 TPD-58OZ6D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-58OZ6D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-58OZ6D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-58OZ6D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-58OZ6D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-58OZ6D Lynch syndrome 2B90.Y Orphanet 144 TPD-58OZ6D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-58OZ6D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-58V79E Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-58V79E Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-58XF1S Kennedy disease 8B61.4 Orphanet 481 TPD-58XF1S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-58XF1S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-58XF1S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-58XF8R Kennedy disease 8B61.4 Orphanet 481 TPD-58XF8R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-58XF8R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-58XF8R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-58YWEQ Burkitt lymphoma XH4KA9 Orphanet 543 TPD-58YWEQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-58YWEQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-59077R Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-590M6W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5924S6 Kennedy disease 8B61.4 Orphanet 481 TPD-5924S6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5924S6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5924S6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-59CZ66 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-59CZ66 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-59DVDH Kennedy disease 8B61.4 Orphanet 481 TPD-59DVDH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-59DVDH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-59DVDH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-59G8YO Hirschsprung disease LB16.1 Orphanet 388 TPD-59G8YO Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-59G8YO Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-59HZ49 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-59KU3P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-59KU3P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-59KU3P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-59LC0V Noonan syndrome LD2F.15 Orphanet 648 TPD-59LC0V Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-59LC0V Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-59LC0V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-59LC0V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-59LC0V Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-59LC0V Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-59LC0V Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-59LC0V Craniopharyngioma 2F9A Orphanet 54595 TPD-59LC0V Cushing disease 5A70.0 Orphanet 96253 TPD-59VEBW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-59VEBW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-59YIW0 Noonan syndrome LD2F.15 Orphanet 648 TPD-59YIW0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-59YIW0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-59YIW0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-59YIW0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-59YIW0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-59YIW0 Lynch syndrome 2B90.Y Orphanet 144 TPD-59YIW0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-59YIW0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-59YST6 Kennedy disease 8B61.4 Orphanet 481 TPD-59YST6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-59YST6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-59YST6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-59ZO0H Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5A0C6B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5A2TDQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5A9MQ7 Kennedy disease 8B61.4 Orphanet 481 TPD-5A9MQ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5A9MQ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5A9MQ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5AC673 Noonan syndrome LD2F.15 Orphanet 648 TPD-5AC673 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-5AGC1M Noonan syndrome LD2F.15 Orphanet 648 TPD-5AGC1M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5AGC1M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5AGC1M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5AGC1M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5AGC1M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5AGC1M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5AGC1M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5AGC1M Craniopharyngioma 2F9A Orphanet 54595 TPD-5AGC1M Cushing disease 5A70.0 Orphanet 96253 TPD-5AGISW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5AGISW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5AGISW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5AJE3C Kennedy disease 8B61.4 Orphanet 481 TPD-5AJE3C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5AJE3C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5AJE3C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5AJZZF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5AJZZF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5AJZZF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5AKSAB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5AOPV3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5AOPV3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5AQKYN Noonan syndrome LD2F.15 Orphanet 648 TPD-5AQKYN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5AQKYN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5AQKYN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5AQKYN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5AQKYN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5AQKYN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5AQKYN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5AQKYN Craniopharyngioma 2F9A Orphanet 54595 TPD-5AQKYN Cushing disease 5A70.0 Orphanet 96253 TPD-5AR2A9 Kennedy disease 8B61.4 Orphanet 481 TPD-5AR2A9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5AR2A9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5AR2A9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5AU2MB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5AWQG5 Kennedy disease 8B61.4 Orphanet 481 TPD-5AWQG5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5AWQG5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5AWQG5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5B24HH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5B24HH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5B24HH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5B261I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5B261I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5B261I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5B3DC6 Noonan syndrome LD2F.15 Orphanet 648 TPD-5B3DC6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5B3DC6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5B3DC6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5B3DC6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5B3DC6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5B3DC6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5B3DC6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5B3DC6 Craniopharyngioma 2F9A Orphanet 54595 TPD-5B3DC6 Cushing disease 5A70.0 Orphanet 96253 TPD-5B8C72 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5B8C72 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5B8XOV Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-5BALAS Achondroplasia LD24.00 Orphanet 15 TPD-5BALAS Hypochondroplasia LD24.01 Orphanet 429 TPD-5BALAS Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-5BALAS Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-5BALAS Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-5BALAS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5BALAS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5BALAS Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-5BALAS Muenke syndrome LD24.GY Orphanet 53271 TPD-5BALAS Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-5BALAS Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-5BALAS Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-5BB8TU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5BB8TU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5BB8TU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5BB8TU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5BBMDT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5BBMDT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5BBMDT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5BBMDT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5BFKTT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5BFKTT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5BFKTT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5BFKTT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5BHJZE Noonan syndrome LD2F.15 Orphanet 648 TPD-5BHJZE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5BHJZE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5BHJZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5BHJZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5BHJZE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5BHJZE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5BHJZE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5BHJZE Craniopharyngioma 2F9A Orphanet 54595 TPD-5BHJZE Cushing disease 5A70.0 Orphanet 96253 TPD-5BIFAJ Kennedy disease 8B61.4 Orphanet 481 TPD-5BIFAJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5BIFAJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5BIFAJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5BJ3TR Noonan syndrome LD2F.15 Orphanet 648 TPD-5BJ3TR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5BJ3TR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5BJ3TR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5BJ3TR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5BJ3TR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5BJ3TR Lynch syndrome 2B90.Y Orphanet 144 TPD-5BJ3TR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5BJ3TR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5BP1BJ Familial melanoma QC61.Y Orphanet 618 TPD-5BP1BJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5BQRX1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-5BQRX1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5BU0KF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5BW355 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5BWSDF Noonan syndrome LD2F.15 Orphanet 648 TPD-5BWSDF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5BWSDF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5BWSDF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5BWSDF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5BWSDF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5BWSDF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5BWSDF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5BWSDF Craniopharyngioma 2F9A Orphanet 54595 TPD-5BWSDF Cushing disease 5A70.0 Orphanet 96253 TPD-5BX08Y CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5BX1XC Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-5BYWN3 Kennedy disease 8B61.4 Orphanet 481 TPD-5BYWN3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5BYWN3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5BYWN3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5BZ5RP Noonan syndrome LD2F.15 Orphanet 648 TPD-5BZ5RP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5BZ5RP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5BZ5RP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5BZ5RP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5BZ5RP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5BZ5RP Lynch syndrome 2B90.Y Orphanet 144 TPD-5BZ5RP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5BZ5RP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5C145Y Noonan syndrome LD2F.15 Orphanet 648 TPD-5C145Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5C145Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5C145Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5C145Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5C145Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5C145Y Lynch syndrome 2B90.Y Orphanet 144 TPD-5C145Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5C145Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5C3FAO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5CCUU2 Noonan syndrome LD2F.15 Orphanet 648 TPD-5CCUU2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5CCUU2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5CCUU2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5CCUU2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5CCUU2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5CCUU2 Lynch syndrome 2B90.Y Orphanet 144 TPD-5CCUU2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5CCUU2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5CGA8W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5CGA8W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5CGFWU Kennedy disease 8B61.4 Orphanet 481 TPD-5CGFWU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5CGFWU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5CGFWU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5CH3M5 Noonan syndrome LD2F.15 Orphanet 648 TPD-5CH3M5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5CH3M5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5CH3M5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5CH3M5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5CH3M5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5CH3M5 Lynch syndrome 2B90.Y Orphanet 144 TPD-5CH3M5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5CH3M5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5CITR9 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-5CITR9 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-5CITR9 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-5CLO3R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5CPCIX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5CPCIX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5CQOV9 Familial melanoma QC61.Y Orphanet 618 TPD-5CQOV9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5D75WM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5D78JP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5DBAJI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5DCEJV Kennedy disease 8B61.4 Orphanet 481 TPD-5DCEJV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5DCEJV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5DCEJV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5DDS3Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5DDS3Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5DDVBW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5DDVBW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5DDVBW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5DFQPH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5DFQPH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5DFQPH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5DFQPH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5DJS2Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5DJS2Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5DL59M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5DL59M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5DL59M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5DNKFX Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-5DNKFX Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-5DNKFX Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-5DPS33 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5DPS33 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5DPS33 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5DZ6ND Familial melanoma QC61.Y Orphanet 618 TPD-5DZ6ND Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5E0XSP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5E0XSP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5E0XSP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5E0XSP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5E0ZK6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5E166N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5E166N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5E2J68 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5E2J68 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5E33NT Kennedy disease 8B61.4 Orphanet 481 TPD-5E33NT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5E33NT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5E33NT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5E6GME Kennedy disease 8B61.4 Orphanet 481 TPD-5E6GME Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5E6GME Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5E6GME Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5EA3Q8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5EA3Q8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5EA3Q8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5EA3Q8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5EETQK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5EETQK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5EETQK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5EETQK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5EETQK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5EETQK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5EETQK Semantic dementia 6D83 Orphanet 100069 TPD-5EETQK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5EIPYE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5EIPYE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5EIPYE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5EK4I5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5EMBM9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5EMBM9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5ET7GQ Familial melanoma QC61.Y Orphanet 618 TPD-5ET7GQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5ET94M Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5EU2VQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5EU2VQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5EU2VQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5EW3KF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5EW3KF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5EW3KF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5EW3KF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5EW3KF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5EW3KF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5EW3KF Semantic dementia 6D83 Orphanet 100069 TPD-5EW3KF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5EY7T9 Kennedy disease 8B61.4 Orphanet 481 TPD-5EY7T9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5EY7T9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5EY7T9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5F0MN8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5F156W Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-5F84XH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5F84XH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5FAJJ6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5FAJJ6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5FAZRX Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-5FD05O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5FIJ63 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-5FIJ63 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-5FJ04P CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5FK2MH Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-5FL7MZ Kennedy disease 8B61.4 Orphanet 481 TPD-5FL7MZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5FL7MZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5FL7MZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5FQPRZ Kennedy disease 8B61.4 Orphanet 481 TPD-5FQPRZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5FQPRZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5FQPRZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5FSZG4 Noonan syndrome LD2F.15 Orphanet 648 TPD-5FSZG4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5FSZG4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5FSZG4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5FSZG4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5FSZG4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5FSZG4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5FSZG4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5FSZG4 Craniopharyngioma 2F9A Orphanet 54595 TPD-5FSZG4 Cushing disease 5A70.0 Orphanet 96253 TPD-5FWPPW Kennedy disease 8B61.4 Orphanet 481 TPD-5FWPPW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5FWPPW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5FWPPW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5G06IV Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-5G06IV Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-5G06IV Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-5G1TBQ Kennedy disease 8B61.4 Orphanet 481 TPD-5G1TBQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5G1TBQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5G1TBQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5G26HG Noonan syndrome LD2F.15 Orphanet 648 TPD-5G26HG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5G26HG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5G26HG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5G26HG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5G26HG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5G26HG Lynch syndrome 2B90.Y Orphanet 144 TPD-5G26HG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5G26HG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5G3DFU Kennedy disease 8B61.4 Orphanet 481 TPD-5G3DFU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5G3DFU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5G3DFU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5G3Z56 Noonan syndrome LD2F.15 Orphanet 648 TPD-5G3Z56 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5G3Z56 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5G3Z56 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5G3Z56 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5G3Z56 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5G3Z56 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5G3Z56 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5G3Z56 Craniopharyngioma 2F9A Orphanet 54595 TPD-5G3Z56 Cushing disease 5A70.0 Orphanet 96253 TPD-5G7YGG Noonan syndrome LD2F.15 Orphanet 648 TPD-5G7YGG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5G7YGG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5G7YGG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5G7YGG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5G7YGG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5G7YGG Lynch syndrome 2B90.Y Orphanet 144 TPD-5G7YGG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5G7YGG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5G8ABD Noonan syndrome LD2F.15 Orphanet 648 TPD-5G8ABD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5G8ABD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5G8ABD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5G8ABD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5G8ABD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5G8ABD Lynch syndrome 2B90.Y Orphanet 144 TPD-5G8ABD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5G8ABD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5GAP5P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5GAP5P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5GCS8E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5GCS8E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5GHZID Noonan syndrome LD2F.15 Orphanet 648 TPD-5GHZID Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5GHZID Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5GHZID Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5GHZID Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5GHZID Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5GHZID Lynch syndrome 2B90.Y Orphanet 144 TPD-5GHZID Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5GHZID Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5GJ6X0 Kennedy disease 8B61.4 Orphanet 481 TPD-5GJ6X0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5GJ6X0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5GJ6X0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5GK1B2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5GK1B2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5GK1B2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5GKM5N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5GKM5N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5GKM5N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5GMO84 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5GMO84 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5GMO84 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5GOYF5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5GOYF5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5GQZCR Weaver syndrome LD2C Orphanet 3447 TPD-5GRRNT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5GRRNT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5GRRNT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5GTCR8 Noonan syndrome LD2F.15 Orphanet 648 TPD-5GTCR8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5GTCR8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5GTCR8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5GTCR8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5GTCR8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5GTCR8 Lynch syndrome 2B90.Y Orphanet 144 TPD-5GTCR8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5GTCR8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5GUB3V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5GUB3V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5GWEG4 Kennedy disease 8B61.4 Orphanet 481 TPD-5GWEG4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5GWEG4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5GWEG4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5GZGRS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5GZGRS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5H0CQ2 Kennedy disease 8B61.4 Orphanet 481 TPD-5H0CQ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5H0CQ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5H0CQ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5H2Z0F Kennedy disease 8B61.4 Orphanet 481 TPD-5H2Z0F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5H2Z0F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5H2Z0F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5H5U3W Noonan syndrome LD2F.15 Orphanet 648 TPD-5H5U3W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5H5U3W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5H5U3W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5H5U3W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5H5U3W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5H5U3W Lynch syndrome 2B90.Y Orphanet 144 TPD-5H5U3W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5H5U3W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5HGR7P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5HGR7P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5HJED0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5HJED0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5HJED0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5HJED0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5HKWJD Noonan syndrome LD2F.15 Orphanet 648 TPD-5HKWJD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5HKWJD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5HKWJD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5HKWJD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5HKWJD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5HKWJD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5HKWJD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5HKWJD Craniopharyngioma 2F9A Orphanet 54595 TPD-5HKWJD Cushing disease 5A70.0 Orphanet 96253 TPD-5HPRWD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5HPRWD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5HQJG9 Kennedy disease 8B61.4 Orphanet 481 TPD-5HQJG9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5HQJG9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5HQJG9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5HRIOP Kennedy disease 8B61.4 Orphanet 481 TPD-5HRIOP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5HRIOP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5HRIOP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5HT2HX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5HVG2K Kennedy disease 8B61.4 Orphanet 481 TPD-5HVG2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5HVG2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5HVG2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5HZTQS Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-5HZTQS Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-5HZTQS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5HZTQS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5HZTQS Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-5HZTQS Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-5I1LUF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5I1LUF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5I1LUF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5I2OT5 Congenital fibrosis of extraocular muscles 9C82.2 Orphanet 45358 TPD-5I3NDO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5I3NDO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5I3NDO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5I3NDO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5I5IBN Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-5I7TEW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-5I7TEW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-5I8XPJ Kennedy disease 8B61.4 Orphanet 481 TPD-5I8XPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5I8XPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5I8XPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5IHA99 Hirschsprung disease LB16.1 Orphanet 388 TPD-5IHA99 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-5IHYB0 Noonan syndrome LD2F.15 Orphanet 648 TPD-5IHYB0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5IHYB0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5IHYB0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5IHYB0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5IHYB0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5IHYB0 Lynch syndrome 2B90.Y Orphanet 144 TPD-5IHYB0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5IHYB0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5IKOFH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5IMRVN Noonan syndrome LD2F.15 Orphanet 648 TPD-5IMRVN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5IMRVN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5IMRVN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5IMRVN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5IMRVN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5IMRVN Lynch syndrome 2B90.Y Orphanet 144 TPD-5IMRVN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5IMRVN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5IMXC8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5INX0N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5INX0N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5INX0N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5INX0N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5IOIAO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5IOSWT Noonan syndrome LD2F.15 Orphanet 648 TPD-5IOSWT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5IOSWT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5IOSWT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5IOSWT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5IOSWT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5IOSWT Lynch syndrome 2B90.Y Orphanet 144 TPD-5IOSWT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5IOSWT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5IQ3W5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5IQ3W5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5IRJIL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5IUI2C Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5IZ7MV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5IZ7MV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5IZ7MV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5IZT0I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5IZT0I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5IZT0I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5J43PW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5J43PW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5J51S5 Kennedy disease 8B61.4 Orphanet 481 TPD-5J51S5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5J51S5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5J51S5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5J59K0 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-5J73GR Noonan syndrome LD2F.15 Orphanet 648 TPD-5J73GR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5J73GR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5J73GR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5J73GR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5J73GR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5J73GR Lynch syndrome 2B90.Y Orphanet 144 TPD-5J73GR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5J73GR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5J9UMT Familial melanoma QC61.Y Orphanet 618 TPD-5J9UMT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5JE2GJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5JE2GJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5JGI2H Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-5JHTYI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5JHTYI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5JHYJT Kennedy disease 8B61.4 Orphanet 481 TPD-5JHYJT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5JHYJT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5JHYJT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5JIQBP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5JIQBP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5JIQBP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5JK9OV Noonan syndrome LD2F.15 Orphanet 648 TPD-5JK9OV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5JK9OV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5JK9OV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5JK9OV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5JK9OV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5JK9OV Lynch syndrome 2B90.Y Orphanet 144 TPD-5JK9OV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5JK9OV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5JP3A6 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-5JP3A6 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5JP3A6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5JWGG7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5JWGG7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5JWGG7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5JWGG7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5JZSFX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5JZSFX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5JZSFX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5JZSFX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5JZUQ7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5JZUQ7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5K1XTQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5K3WAM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5K3WAM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5KA18R Kennedy disease 8B61.4 Orphanet 481 TPD-5KA18R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5KA18R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5KA18R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5KANL9 Familial melanoma QC61.Y Orphanet 618 TPD-5KANL9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5KKMPW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5KKMPW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5KKMPW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5KPW7M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5KPW7M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5KPW7M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5KTEXU Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-5KWJQR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5KWWK5 Kennedy disease 8B61.4 Orphanet 481 TPD-5KWWK5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5KWWK5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5KWWK5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5L122B Noonan syndrome LD2F.15 Orphanet 648 TPD-5L122B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5L122B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5L122B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5L122B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5L122B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5L122B Lynch syndrome 2B90.Y Orphanet 144 TPD-5L122B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5L122B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5L392C Kennedy disease 8B61.4 Orphanet 481 TPD-5L392C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5L392C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5L392C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5L3GUM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5L3GUM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5L3GUM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5L3GUM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5L77OR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5L77OR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5L77OR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5L77OR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5LBL8T CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5LBZ52 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5LBZ52 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5LBZ52 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5LCNNM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5LCNNM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5LCNNM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5LEFFW Kennedy disease 8B61.4 Orphanet 481 TPD-5LEFFW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5LEFFW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5LEFFW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5LGL0N Kennedy disease 8B61.4 Orphanet 481 TPD-5LGL0N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5LGL0N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5LGL0N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5LJA8L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5LJA8L Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5LJIK9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5LJIK9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5LJIK9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5LK1KS Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-5LM1B3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5LM1B3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5LM1B3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5LM1B3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5LM2DR Burkitt lymphoma XH4KA9 Orphanet 543 TPD-5LM2DR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5LM2DR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5LM36G Kennedy disease 8B61.4 Orphanet 481 TPD-5LM36G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5LM36G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5LM36G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5LN61K Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-5LO5GV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5LO5GV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5LO5GV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5LO5GV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5LO5GV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5LO5GV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5LO5GV Semantic dementia 6D83 Orphanet 100069 TPD-5LO5GV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5LOH20 Kennedy disease 8B61.4 Orphanet 481 TPD-5LOH20 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5LOH20 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5LOH20 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5LQZUY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5LQZUY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5LQZUY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5LQZUY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5LS9RX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5LSZL8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5LSZL8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5LSZL8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5LSZL8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5LTCEY Kennedy disease 8B61.4 Orphanet 481 TPD-5LTCEY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5LTCEY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5LTCEY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5M1QZ6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5M1QZ6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5M1QZ6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5M1V3N Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-5M1V3N Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-5M1V3N Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-5M1V3N Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-5M1V3N Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-5M1V3N Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-5M1V3N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5M1V3N Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-5M1V3N Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5M5K6M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5M5K6M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5M5K6M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5M6K45 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5M6K45 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5M6K45 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5M8C71 Kennedy disease 8B61.4 Orphanet 481 TPD-5M8C71 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5M8C71 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5M8C71 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5MALGQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5MALGQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5MALGQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5MALGQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5MBJ6Q Kennedy disease 8B61.4 Orphanet 481 TPD-5MBJ6Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5MBJ6Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5MBJ6Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5MET5U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5MGBLO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5MGBLO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5MHUPH Familial melanoma QC61.Y Orphanet 618 TPD-5MHUPH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5MJ80S Familial melanoma QC61.Y Orphanet 618 TPD-5MK0M4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5MK0M4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5MK0M4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5ML8TB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5ML8TB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5MNCNI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5MNCNI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5MNCNI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5MO0ZZ Noonan syndrome LD2F.15 Orphanet 648 TPD-5MO0ZZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5MO0ZZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5MO0ZZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5MO0ZZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5MO0ZZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5MO0ZZ Lynch syndrome 2B90.Y Orphanet 144 TPD-5MO0ZZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5MO0ZZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5MOGFI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5MOGFI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5MR78N Kennedy disease 8B61.4 Orphanet 481 TPD-5MR78N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5MR78N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5MR78N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5MS2DK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5MS2DK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5MS2DK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5MS2DK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5MSCSN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-5MY85K Noonan syndrome LD2F.15 Orphanet 648 TPD-5MY85K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5MY85K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5MY85K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5MY85K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5MY85K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5MY85K Lynch syndrome 2B90.Y Orphanet 144 TPD-5MY85K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5MY85K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5N4ABJ Noonan syndrome LD2F.15 Orphanet 648 TPD-5N4ABJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5N4ABJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5N4ABJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5N4ABJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5N4ABJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5N4ABJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5N4ABJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5N4ABJ Craniopharyngioma 2F9A Orphanet 54595 TPD-5N4ABJ Cushing disease 5A70.0 Orphanet 96253 TPD-5N6OX9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5N6OX9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5N6OX9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5N78E6 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-5N78E6 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-5N78E6 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-5N8P3F Noonan syndrome LD2F.15 Orphanet 648 TPD-5N8P3F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5N8P3F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5N8P3F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5N8P3F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5N8P3F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5N8P3F Lynch syndrome 2B90.Y Orphanet 144 TPD-5N8P3F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5N8P3F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5N99GX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5NA8ZS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5NBYP3 Kennedy disease 8B61.4 Orphanet 481 TPD-5NBYP3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5NBYP3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5NBYP3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5NDY43 Kennedy disease 8B61.4 Orphanet 481 TPD-5NDY43 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5NDY43 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5NDY43 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5NENTK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5NEQGE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5NF1IL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5NFYXF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5NFYXF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5NFYXF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5NI479 Noonan syndrome LD2F.15 Orphanet 648 TPD-5NI479 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5NI479 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5NI479 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5NI479 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5NI479 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5NI479 Lynch syndrome 2B90.Y Orphanet 144 TPD-5NI479 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5NI479 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5NLOBS Familial melanoma QC61.Y Orphanet 618 TPD-5NLOBS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5NQ1PR Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-5NQ1PR Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-5NQ1PR Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-5NQ1PR Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-5NQ1PR Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-5NQ1PR Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-5NQ1PR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5NQ1PR Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-5NQ1PR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5NRWRK Noonan syndrome LD2F.15 Orphanet 648 TPD-5NRWRK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5NRWRK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5NRWRK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5NRWRK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5NRWRK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5NRWRK Lynch syndrome 2B90.Y Orphanet 144 TPD-5NRWRK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5NRWRK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5NVRKN Burkitt lymphoma XH4KA9 Orphanet 543 TPD-5NVRKN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5NVRKN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5O17JY Kennedy disease 8B61.4 Orphanet 481 TPD-5O17JY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5O17JY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5O17JY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5O1H48 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5O1H48 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5O1H48 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5O1PWA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5O1PWA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5O1VBH Noonan syndrome LD2F.15 Orphanet 648 TPD-5O1VBH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5O1VBH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5O1VBH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5O1VBH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5O1VBH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5O1VBH Lynch syndrome 2B90.Y Orphanet 144 TPD-5O1VBH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5O1VBH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5O255I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5O255I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5O255I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5O25L1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5O25L1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5O25L1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5O25L1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5O3XY5 Noonan syndrome LD2F.15 Orphanet 648 TPD-5O3XY5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5O3XY5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5O3XY5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5O3XY5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5O3XY5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5O3XY5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5O3XY5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5O3XY5 Craniopharyngioma 2F9A Orphanet 54595 TPD-5O3XY5 Cushing disease 5A70.0 Orphanet 96253 TPD-5O70WA Familial melanoma QC61.Y Orphanet 618 TPD-5O70WA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5O7R69 Kennedy disease 8B61.4 Orphanet 481 TPD-5O7R69 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5O7R69 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5O7R69 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5O85EG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5O91BA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5O9UE5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5O9UE5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5O9UE5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5O9UE5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5O9UE5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5O9UE5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5O9UE5 Semantic dementia 6D83 Orphanet 100069 TPD-5O9UE5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5OC8E1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5OC8E1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5OC8E1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5OG2V9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-5OG2V9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-5OI19Q Familial melanoma QC61.Y Orphanet 618 TPD-5OI19Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5OI53I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5OJK3E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5OJK3E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5OJP6B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5OJXOA Kennedy disease 8B61.4 Orphanet 481 TPD-5OJXOA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5OJXOA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5OJXOA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5ONUSV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-5OOIGU Kennedy disease 8B61.4 Orphanet 481 TPD-5OOIGU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5OOIGU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5OOIGU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5OQA6S Noonan syndrome LD2F.15 Orphanet 648 TPD-5OQA6S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5OQA6S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5OQA6S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5OQA6S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5OQA6S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5OQA6S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5OQA6S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5OQA6S Craniopharyngioma 2F9A Orphanet 54595 TPD-5OQA6S Cushing disease 5A70.0 Orphanet 96253 TPD-5OQJZH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5OQJZH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5OQJZH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5ORZ4M Kennedy disease 8B61.4 Orphanet 481 TPD-5ORZ4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5ORZ4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5ORZ4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5OXU4U Noonan syndrome LD2F.15 Orphanet 648 TPD-5OXU4U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5OXU4U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5OXU4U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5OXU4U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5OXU4U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5OXU4U Lynch syndrome 2B90.Y Orphanet 144 TPD-5OXU4U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5OXU4U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5P1GOR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-5P1GOR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-5P1OS6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5P1VZI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5P1VZI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5P1VZI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5P1VZI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5P2PN8 Noonan syndrome LD2F.15 Orphanet 648 TPD-5P2PN8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5P2PN8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5P2PN8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5P2PN8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5P2PN8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5P2PN8 Lynch syndrome 2B90.Y Orphanet 144 TPD-5P2PN8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5P2PN8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5P5KWL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5P5KWL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5P5KWL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5P98UR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5PCMVD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5PD3EI Noonan syndrome LD2F.15 Orphanet 648 TPD-5PD3EI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5PD3EI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5PD3EI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5PD3EI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5PD3EI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5PD3EI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5PD3EI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5PD3EI Craniopharyngioma 2F9A Orphanet 54595 TPD-5PD3EI Cushing disease 5A70.0 Orphanet 96253 TPD-5PFAQA Duane retraction syndrome 9C82.2 Orphanet 233 TPD-5PFAQA Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-5PFAQA Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-5PFAQA Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-5PFAQA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5PJ034 Kennedy disease 8B61.4 Orphanet 481 TPD-5PJ034 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5PJ034 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5PJ034 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5PL934 Noonan syndrome LD2F.15 Orphanet 648 TPD-5PL934 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5PL934 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5PL934 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5PL934 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5PL934 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5PL934 Lynch syndrome 2B90.Y Orphanet 144 TPD-5PL934 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5PL934 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5PRH81 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5PRH81 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5PRH81 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5PRL4C Familial melanoma QC61.Y Orphanet 618 TPD-5PRL4C Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5PUBB9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5PUBB9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5PUBB9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5PUN72 Kennedy disease 8B61.4 Orphanet 481 TPD-5PUN72 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5PUN72 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5PUN72 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5PVOAK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5PVOAK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5PZCT9 Noonan syndrome LD2F.15 Orphanet 648 TPD-5PZCT9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5PZCT9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5PZCT9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5PZCT9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5PZCT9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5PZCT9 Lynch syndrome 2B90.Y Orphanet 144 TPD-5PZCT9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5PZCT9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5Q11HB Noonan syndrome LD2F.15 Orphanet 648 TPD-5Q11HB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5Q11HB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5Q11HB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5Q11HB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5Q11HB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5Q11HB Lynch syndrome 2B90.Y Orphanet 144 TPD-5Q11HB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5Q11HB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5Q1MKT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5Q239B Kennedy disease 8B61.4 Orphanet 481 TPD-5Q239B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5Q239B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5Q239B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5Q5PX7 Familial melanoma QC61.Y Orphanet 618 TPD-5Q5PX7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5Q6YC9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5Q6YC9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5Q6YC9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5Q7R7I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5Q7R7I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5Q7R7I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5Q7R7I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5QCKLN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5QCKLN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5QD6I8 Kennedy disease 8B61.4 Orphanet 481 TPD-5QD6I8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5QD6I8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5QD6I8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5QEGPO Kennedy disease 8B61.4 Orphanet 481 TPD-5QEGPO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5QEGPO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5QEGPO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5QH8FR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5QH8FR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5QH8FR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5QHNM8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5QJSE9 Noonan syndrome LD2F.15 Orphanet 648 TPD-5QJSE9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5QJSE9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5QJSE9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5QJSE9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5QJSE9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5QJSE9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5QJSE9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5QJSE9 Craniopharyngioma 2F9A Orphanet 54595 TPD-5QJSE9 Cushing disease 5A70.0 Orphanet 96253 TPD-5QKWYG Retinitis pigmentosa 9B70 Orphanet 791 TPD-5QL6D2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5QL6D2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5QLO5P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5QLO5P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5QMCZN Noonan syndrome LD2F.15 Orphanet 648 TPD-5QMCZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5QMCZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5QMCZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5QMCZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5QMCZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5QMCZN Lynch syndrome 2B90.Y Orphanet 144 TPD-5QMCZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5QMCZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5QMH26 Kennedy disease 8B61.4 Orphanet 481 TPD-5QMH26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5QMH26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5QMH26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5QOC5H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5QP9ZN Noonan syndrome LD2F.15 Orphanet 648 TPD-5QP9ZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5QP9ZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5QP9ZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5QP9ZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5QP9ZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5QP9ZN Lynch syndrome 2B90.Y Orphanet 144 TPD-5QP9ZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5QP9ZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5QSBF9 Noonan syndrome LD2F.15 Orphanet 648 TPD-5QSBF9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5QSBF9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5QSBF9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5QSBF9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5QSBF9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5QSBF9 Lynch syndrome 2B90.Y Orphanet 144 TPD-5QSBF9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5QSBF9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5QTHZJ Noonan syndrome LD2F.15 Orphanet 648 TPD-5QTHZJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5QTHZJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5QTHZJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5QTHZJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5QTHZJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5QTHZJ Lynch syndrome 2B90.Y Orphanet 144 TPD-5QTHZJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5QTHZJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5QU5NP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5QWHSN Familial melanoma QC61.Y Orphanet 618 TPD-5QWHSN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5QXFL1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5QXFL1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5QXFL1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5QXFL1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5R3IOA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5R3IOA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5R3IOA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5R3K29 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5R3K29 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5R3K29 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5R4922 Kennedy disease 8B61.4 Orphanet 481 TPD-5R4922 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5R4922 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5R4922 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5R4OGW Kennedy disease 8B61.4 Orphanet 481 TPD-5R4OGW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5R4OGW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5R4OGW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5R75SZ Kennedy disease 8B61.4 Orphanet 481 TPD-5R75SZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5R75SZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5R75SZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5RCTKR Kennedy disease 8B61.4 Orphanet 481 TPD-5RCTKR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5RCTKR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5RCTKR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5RDGG1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5RDGG1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5RDGG1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5RFGNA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5RFGNA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5RFGNA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5RH5IO Kennedy disease 8B61.4 Orphanet 481 TPD-5RH5IO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5RH5IO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5RH5IO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5RH978 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5RKC9O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5RKC9O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5RKC9O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5RL0LT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5RL0LT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5RL0LT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5RMR2U Noonan syndrome LD2F.15 Orphanet 648 TPD-5RMR2U Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-5RN2G4 Noonan syndrome LD2F.15 Orphanet 648 TPD-5RN2G4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5RN2G4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5RN2G4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5RN2G4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5RN2G4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5RN2G4 Lynch syndrome 2B90.Y Orphanet 144 TPD-5RN2G4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5RN2G4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5ROEBS Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-5ROEBS Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-5ROEBS Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-5ROEBS Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-5ROEBS Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-5RT5RJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-5RT5RJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-5S1BLF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5S8GPQ Noonan syndrome LD2F.15 Orphanet 648 TPD-5S8GPQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5S8GPQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5S8GPQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5S8GPQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5S8GPQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5S8GPQ Lynch syndrome 2B90.Y Orphanet 144 TPD-5S8GPQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5S8GPQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5SL405 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5SL405 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5SL405 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5STO3T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5STO3T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5STO3T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5SV8EB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5SV8EB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5SWBX7 Kennedy disease 8B61.4 Orphanet 481 TPD-5SWBX7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5SWBX7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5SWBX7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5SWNIE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5SWNIE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5SWNIE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5T3H86 Noonan syndrome LD2F.15 Orphanet 648 TPD-5T3H86 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5T3H86 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5T3H86 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5T3H86 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5T3H86 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5T3H86 Lynch syndrome 2B90.Y Orphanet 144 TPD-5T3H86 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5T3H86 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5T9JHF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5T9JHF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5TC3OR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5TC3OR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5TC3OR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5TIAMC Noonan syndrome LD2F.15 Orphanet 648 TPD-5TIAMC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5TIAMC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5TIAMC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5TIAMC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5TIAMC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5TIAMC Lynch syndrome 2B90.Y Orphanet 144 TPD-5TIAMC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5TIAMC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5TICPV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5TICPV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5TICPV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5TNTFY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5TNTFY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5TNTFY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5TQG8J Familial melanoma QC61.Y Orphanet 618 TPD-5TQG8J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5TUEYN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-5TW01X Kennedy disease 8B61.4 Orphanet 481 TPD-5TW01X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5TW01X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5TW01X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5TYJN2 Kennedy disease 8B61.4 Orphanet 481 TPD-5TYJN2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5TYJN2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5TYJN2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5TYPZD Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5TYPZD Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5TYPZD Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5TYPZD Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5TYPZD Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5TYPZD Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5TYPZD Semantic dementia 6D83 Orphanet 100069 TPD-5TYPZD Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5U12XN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5U12XN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5U12XN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5U1K05 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5U1K05 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5U1K05 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5U1R2F Noonan syndrome LD2F.15 Orphanet 648 TPD-5U1R2F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5U1R2F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5U1R2F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5U1R2F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5U1R2F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5U1R2F Lynch syndrome 2B90.Y Orphanet 144 TPD-5U1R2F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5U1R2F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5U467L Kennedy disease 8B61.4 Orphanet 481 TPD-5U467L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5U467L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5U467L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5U5DLU Familial melanoma QC61.Y Orphanet 618 TPD-5U5DLU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5U6R39 Kennedy disease 8B61.4 Orphanet 481 TPD-5U6R39 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5U6R39 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5U6R39 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5U7W9F Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-5U9IXJ Kennedy disease 8B61.4 Orphanet 481 TPD-5U9IXJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5U9IXJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5U9IXJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5UALFP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5UALFP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5UEQC1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5UEQC1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5UEQC1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5UFZVK Kennedy disease 8B61.4 Orphanet 481 TPD-5UFZVK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5UFZVK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5UFZVK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5UI842 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5UJL2I Noonan syndrome LD2F.15 Orphanet 648 TPD-5UJL2I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5UJL2I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5UJL2I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5UJL2I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5UJL2I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5UJL2I Lynch syndrome 2B90.Y Orphanet 144 TPD-5UJL2I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5UJL2I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5ULVAY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5ULVAY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5UM3IA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5UM3IA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5UM3IA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5UM3IA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5UM3IA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5UM3IA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5UM3IA Semantic dementia 6D83 Orphanet 100069 TPD-5UM3IA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5UQ58W Kennedy disease 8B61.4 Orphanet 481 TPD-5UQ58W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5UQ58W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5UQ58W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5UUHB4 Noonan syndrome LD2F.15 Orphanet 648 TPD-5UUHB4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5UUHB4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5UUHB4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5UUHB4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5UUHB4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5UUHB4 Lynch syndrome 2B90.Y Orphanet 144 TPD-5UUHB4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5UUHB4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5V4MSJ Kennedy disease 8B61.4 Orphanet 481 TPD-5V4MSJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5V4MSJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5V4MSJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5V5D7X Noonan syndrome LD2F.15 Orphanet 648 TPD-5V5D7X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5V5D7X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5V5D7X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5V5D7X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5V5D7X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5V5D7X Lynch syndrome 2B90.Y Orphanet 144 TPD-5V5D7X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5V5D7X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5V7WDZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5VAX2P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5VD1LO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5VD1LO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5VD1LO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5VD1LO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5VFW85 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5VFW85 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5VJE1O Familial melanoma QC61.Y Orphanet 618 TPD-5VJE1O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5VKD83 Kennedy disease 8B61.4 Orphanet 481 TPD-5VKD83 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5VKD83 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5VKD83 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5VNN4R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5VNN4R Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5VNN4R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5VQYY0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5VQYY0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5VTC28 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5VY177 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5VY177 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5VY177 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5VYGP2 Familial melanoma QC61.Y Orphanet 618 TPD-5VYGP2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5W9R1X Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-5WANPM Kennedy disease 8B61.4 Orphanet 481 TPD-5WANPM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5WANPM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5WANPM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5WIHMN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5WIHMN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5WIHMN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5WJM8M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5WJM8M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5WJM8M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5WL54J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5WL54J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5WL54J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5WM7JC Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-5WRZ8J Familial melanoma QC61.Y Orphanet 618 TPD-5WRZ8J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5WT8QP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5WYG0C Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5WZ4G5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-5WZ4G5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-5WZ4G5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-5WZBTJ Kennedy disease 8B61.4 Orphanet 481 TPD-5WZBTJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5WZBTJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5WZBTJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5X08YA Noonan syndrome LD2F.15 Orphanet 648 TPD-5X08YA Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-5X1ZDE Kennedy disease 8B61.4 Orphanet 481 TPD-5X1ZDE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5X1ZDE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5X1ZDE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5X74V4 Noonan syndrome LD2F.15 Orphanet 648 TPD-5X74V4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5X74V4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5X74V4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5X74V4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5X74V4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5X74V4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5X74V4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5X74V4 Craniopharyngioma 2F9A Orphanet 54595 TPD-5X74V4 Cushing disease 5A70.0 Orphanet 96253 TPD-5X74V4 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-5XAALX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5XAALX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5XAALX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5XAALX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5XI827 Noonan syndrome LD2F.15 Orphanet 648 TPD-5XI827 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5XI827 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5XI827 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5XI827 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5XI827 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5XI827 Lynch syndrome 2B90.Y Orphanet 144 TPD-5XI827 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5XI827 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5XIOIA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5XIOIA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5XIOIA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5XIOIA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5XIOIA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5XIOIA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5XIOIA Semantic dementia 6D83 Orphanet 100069 TPD-5XIOIA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5XPIO9 Noonan syndrome LD2F.15 Orphanet 648 TPD-5XPIO9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5XPIO9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-5XPIO9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5XPIO9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5XPIO9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-5XPIO9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-5XPIO9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-5XPIO9 Craniopharyngioma 2F9A Orphanet 54595 TPD-5XPIO9 Cushing disease 5A70.0 Orphanet 96253 TPD-5XSEZG Noonan syndrome LD2F.15 Orphanet 648 TPD-5XSEZG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5XSEZG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5XSEZG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5XSEZG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5XSEZG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5XSEZG Lynch syndrome 2B90.Y Orphanet 144 TPD-5XSEZG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5XSEZG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5XTDOZ Noonan syndrome LD2F.15 Orphanet 648 TPD-5XTDOZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5XTDOZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5XTDOZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5XTDOZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5XTDOZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5XTDOZ Lynch syndrome 2B90.Y Orphanet 144 TPD-5XTDOZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5XTDOZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5XTSM7 Isolated Joubert syndrome LD20.00 Orphanet 475 TPD-5XTSM7 Orofaciodigital syndrome type 6 LD25.00 Orphanet 2754 TPD-5XTSM7 Cone rod dystrophy 9B70 Orphanet 1872 TPD-5XU73Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5XU73Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5XU73Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5XVAPG Noonan syndrome LD2F.15 Orphanet 648 TPD-5XVAPG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5XVAPG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5XVAPG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5XVAPG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5XVAPG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5XVAPG Lynch syndrome 2B90.Y Orphanet 144 TPD-5XVAPG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5XVAPG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5XVCWD Kennedy disease 8B61.4 Orphanet 481 TPD-5XVCWD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5XVCWD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5XVCWD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5Y8HJ8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5YG312 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-5YG312 Neuroblastoma 2A00.11 Orphanet 635 TPD-5YG312 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-5YG312 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-5YG312 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-5YHG7T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5YHYZV Noonan syndrome LD2F.15 Orphanet 648 TPD-5YHYZV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5YHYZV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5YHYZV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5YHYZV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5YHYZV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5YHYZV Lynch syndrome 2B90.Y Orphanet 144 TPD-5YHYZV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5YHYZV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5YJ2D9 Kennedy disease 8B61.4 Orphanet 481 TPD-5YJ2D9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5YJ2D9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5YJ2D9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5YKTS2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-5YKTS2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-5YKTS2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-5YKTS2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-5YKTS2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-5YKTS2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-5YKTS2 Semantic dementia 6D83 Orphanet 100069 TPD-5YKTS2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-5YNA2K Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5YOOFB Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-5YP498 Kennedy disease 8B61.4 Orphanet 481 TPD-5YP498 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5YP498 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5YP498 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5YPMGO Kennedy disease 8B61.4 Orphanet 481 TPD-5YPMGO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5YPMGO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5YPMGO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5YR00W Noonan syndrome LD2F.15 Orphanet 648 TPD-5YR00W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5YR00W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5YR00W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5YR00W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5YR00W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5YR00W Lynch syndrome 2B90.Y Orphanet 144 TPD-5YR00W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5YR00W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5YS4WN Kennedy disease 8B61.4 Orphanet 481 TPD-5YS4WN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5YS4WN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5YS4WN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5YUT8P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5YW9VV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5YWC2W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5YWPMS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5YWPMS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5YWPMS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5YWPMS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5Z1D8J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5Z3LSH Kennedy disease 8B61.4 Orphanet 481 TPD-5Z3LSH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5Z3LSH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5Z3LSH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5Z5K9E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5Z5K9E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5Z60A6 Weaver syndrome LD2C Orphanet 3447 TPD-5Z7KUT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-5Z7KUT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-5Z7KUT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5Z7KUT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-5Z8YFV Noonan syndrome LD2F.15 Orphanet 648 TPD-5Z8YFV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-5Z8YFV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-5Z8YFV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-5Z8YFV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5Z8YFV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-5Z8YFV Lynch syndrome 2B90.Y Orphanet 144 TPD-5Z8YFV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-5Z8YFV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-5Z9NNB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5Z9NNB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5ZGTCZ Familial melanoma QC61.Y Orphanet 618 TPD-5ZGTCZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-5ZGYQO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-5ZJCZI Kennedy disease 8B61.4 Orphanet 481 TPD-5ZJCZI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5ZJCZI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5ZJCZI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5ZMOAQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-5ZMOAQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-5ZMOAQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-5ZPEHG Kennedy disease 8B61.4 Orphanet 481 TPD-5ZPEHG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5ZPEHG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5ZPEHG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5ZTHSP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-5ZWQR2 Kennedy disease 8B61.4 Orphanet 481 TPD-5ZWQR2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-5ZWQR2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-5ZWQR2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-5ZZ43A Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-605JW7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-605JW7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-607IVX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-607IVX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-607IVX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-60AXYR Familial melanoma QC61.Y Orphanet 618 TPD-60AXYR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-60ENBW Familial melanoma QC61.Y Orphanet 618 TPD-60ENBW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-60EULJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-60EULJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-60EULJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-60GFY6 Noonan syndrome LD2F.15 Orphanet 648 TPD-60GFY6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-60GFY6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-60GFY6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-60GFY6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-60GFY6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-60GFY6 Lynch syndrome 2B90.Y Orphanet 144 TPD-60GFY6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-60GFY6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-60HDAL Kennedy disease 8B61.4 Orphanet 481 TPD-60HDAL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-60HDAL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-60HDAL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-60M6AV Kennedy disease 8B61.4 Orphanet 481 TPD-60M6AV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-60M6AV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-60M6AV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-60M6Z0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-60O6BC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-60O6BC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-60O6BC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-60SFZW Kennedy disease 8B61.4 Orphanet 481 TPD-60SFZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-60SFZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-60SFZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-60T1MU CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-60T553 Kennedy disease 8B61.4 Orphanet 481 TPD-60T553 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-60T553 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-60T553 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-60VTOM Noonan syndrome LD2F.15 Orphanet 648 TPD-60VTOM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-60VTOM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-60VTOM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-60VTOM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-60VTOM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-60VTOM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-60VTOM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-60VTOM Craniopharyngioma 2F9A Orphanet 54595 TPD-60VTOM Cushing disease 5A70.0 Orphanet 96253 TPD-60X0NB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-60X0NB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-612ANS Noonan syndrome LD2F.15 Orphanet 648 TPD-612ANS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-612ANS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-612ANS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-612ANS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-612ANS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-612ANS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-612ANS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-612ANS Craniopharyngioma 2F9A Orphanet 54595 TPD-612ANS Cushing disease 5A70.0 Orphanet 96253 TPD-612ANS Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-6166VC Kennedy disease 8B61.4 Orphanet 481 TPD-6166VC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6166VC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6166VC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-616L3N Noonan syndrome LD2F.15 Orphanet 648 TPD-616L3N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-616L3N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-616L3N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-616L3N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-616L3N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-616L3N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-616L3N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-616L3N Craniopharyngioma 2F9A Orphanet 54595 TPD-616L3N Cushing disease 5A70.0 Orphanet 96253 TPD-616P7O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-616P7O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-61A78Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-61A78Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-61A78Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-61A78Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-61DABQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-61DABQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-61GMK6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-61GMK6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-61HRCP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-61HRCP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-61HRCP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-61J06P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-61J06P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-61J06P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-61J06P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-61JYM8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-61JYM8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-61O30A Kennedy disease 8B61.4 Orphanet 481 TPD-61O30A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-61O30A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-61O30A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-61Q8D1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-61Q8D1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-61Q8D1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-61QRGN Familial melanoma QC61.Y Orphanet 618 TPD-61QRGN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-61RMU5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-61RMU5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-61SKMT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-61SKMT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-61SKMT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-61SSYV Noonan syndrome LD2F.15 Orphanet 648 TPD-61SSYV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-61SSYV Metachondromatosis LD24.2Y Orphanet 2499 TPD-61SSYV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-61WJA1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-61WJA1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-61WJA1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-61Y64M Familial melanoma QC61.Y Orphanet 618 TPD-61Y64M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-621JCS Kennedy disease 8B61.4 Orphanet 481 TPD-621JCS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-621JCS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-621JCS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-621ZMV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-62239N Kennedy disease 8B61.4 Orphanet 481 TPD-62239N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-62239N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-62239N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-622MQW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-623REM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-623REM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-623REM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-623REM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-623ZPA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-623ZPA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-623ZPA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-62DYWI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-62E94F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-62E94F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-62E94F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-62FGFI Noonan syndrome LD2F.15 Orphanet 648 TPD-62FGFI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-62FGFI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-62FGFI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-62FGFI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-62FGFI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-62FGFI Lynch syndrome 2B90.Y Orphanet 144 TPD-62FGFI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-62FGFI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-62GG2Z Familial melanoma QC61.Y Orphanet 618 TPD-62GG2Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-62GGKW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-62GGKW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-62GGKW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-62IGGY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-62IGGY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-62IGGY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-62JMMP Noonan syndrome LD2F.15 Orphanet 648 TPD-62JMMP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-62JMMP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-62JMMP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-62JMMP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-62JMMP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-62JMMP Lynch syndrome 2B90.Y Orphanet 144 TPD-62JMMP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-62JMMP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-62NOJS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-62QN8U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-62QN8U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-62UOK7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-62UOK7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-62XH68 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-62XH68 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-62XH68 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-62XH68 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-62XQL7 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-62Z4OX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-62ZNEL Kennedy disease 8B61.4 Orphanet 481 TPD-62ZNEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-62ZNEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-62ZNEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-62ZUS5 Kennedy disease 8B61.4 Orphanet 481 TPD-62ZUS5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-62ZUS5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-62ZUS5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-636SL3 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-637APP Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-637APP Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-637APP Primary myelofibrosis 2A20.2 Orphanet 824 TPD-637APP Polycythemia vera 2A20.4 Orphanet 729 TPD-637APP Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-637APP Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-637APP T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-638NWK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-638NWK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-638NWK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-63BXGU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-63ERXV Noonan syndrome LD2F.15 Orphanet 648 TPD-63ERXV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-63ERXV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-63ERXV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-63ERXV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-63ERXV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-63ERXV Lynch syndrome 2B90.Y Orphanet 144 TPD-63ERXV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-63ERXV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-63G6KF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-63G6KF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-63JEEE Kennedy disease 8B61.4 Orphanet 481 TPD-63JEEE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-63JEEE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-63JEEE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-63K0RG Noonan syndrome LD2F.15 Orphanet 648 TPD-63K0RG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-63K0RG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-63K0RG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-63K0RG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-63K0RG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-63K0RG Lynch syndrome 2B90.Y Orphanet 144 TPD-63K0RG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-63K0RG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-63LXRL Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-63LXRL Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-63LXRL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-63LXRL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-63LXRL Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-63LXRL Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-63NE76 Kennedy disease 8B61.4 Orphanet 481 TPD-63NE76 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-63NE76 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-63NE76 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-63VU8C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-63VU8C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-63X1BY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-63X1BY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-63X1BY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-645JYO Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-645JYO Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-645JYO Primary myelofibrosis 2A20.2 Orphanet 824 TPD-645JYO Polycythemia vera 2A20.4 Orphanet 729 TPD-645JYO Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-645JYO Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-648XEH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-648XEH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-648XEH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-648XEH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-64CL3V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-64GYE0 Kennedy disease 8B61.4 Orphanet 481 TPD-64GYE0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-64GYE0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-64GYE0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-64HK2Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-64HV8Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-64KCKI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-64KCKI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-64KCKI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-64KCKI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-64KCKI Neuroblastoma 2A00.11 Orphanet 635 TPD-64KCKI Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-64KCKI ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-64KCKI ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-64KCKI Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-64OPTL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-64OPTL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-64OPTL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-64OPTL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-64OPTL Neuroblastoma 2A00.11 Orphanet 635 TPD-64OPTL Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-64OPTL ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-64OPTL ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-64OPTL Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-64PGTI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-64PM2V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-64PM2V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-64S1QR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-64VJHN Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-64VJHN CINCA syndrome 4A60.1 Orphanet 1451 TPD-64VJHN Familial cold urticaria 4A60.1 Orphanet 47045 TPD-650UFZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-651NJ3 Kennedy disease 8B61.4 Orphanet 481 TPD-651NJ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-651NJ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-651NJ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-652ZCD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-652ZCD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-659O3F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-659O3F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-659O3F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-65AJ2R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-65AJ2R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-65F3IL Hirschsprung disease LB16.1 Orphanet 388 TPD-65F3IL Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-65F3IL Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-65IK4Y Noonan syndrome LD2F.15 Orphanet 648 TPD-65IK4Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-65IK4Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-65IK4Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-65IK4Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-65IK4Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-65IK4Y Lynch syndrome 2B90.Y Orphanet 144 TPD-65IK4Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-65IK4Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-65K8EB Noonan syndrome LD2F.15 Orphanet 648 TPD-65K8EB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-65K8EB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-65K8EB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-65K8EB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-65K8EB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-65K8EB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-65K8EB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-65K8EB Craniopharyngioma 2F9A Orphanet 54595 TPD-65K8EB Cushing disease 5A70.0 Orphanet 96253 TPD-65OQ7J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-65W42F Kennedy disease 8B61.4 Orphanet 481 TPD-65W42F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-65W42F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-65W42F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-65X3F4 Kennedy disease 8B61.4 Orphanet 481 TPD-65X3F4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-65X3F4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-65X3F4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-65ZXO5 Kennedy disease 8B61.4 Orphanet 481 TPD-65ZXO5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-65ZXO5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-65ZXO5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-661766 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-661Q5O Noonan syndrome LD2F.15 Orphanet 648 TPD-661Q5O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-661Q5O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-661Q5O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-661Q5O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-661Q5O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-661Q5O Lynch syndrome 2B90.Y Orphanet 144 TPD-661Q5O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-661Q5O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6626PZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6626PZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-664FTI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-664FTI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-665RCW Noonan syndrome LD2F.15 Orphanet 648 TPD-665RCW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-665RCW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-665RCW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-665RCW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-665RCW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-665RCW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-665RCW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-665RCW Craniopharyngioma 2F9A Orphanet 54595 TPD-665RCW Cushing disease 5A70.0 Orphanet 96253 TPD-666F1G Noonan syndrome LD2F.15 Orphanet 648 TPD-666F1G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-666F1G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-666F1G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-666F1G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-666F1G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-666F1G Lynch syndrome 2B90.Y Orphanet 144 TPD-666F1G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-666F1G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-666KNL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-666KNL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-666KNL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-668G5I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-668G5I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-668G5I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-668G5I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-668P7R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-66BYQ1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-66CMVH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-66DCNL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-66DCNL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-66DCNL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-66J4TT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-66J4TT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-66LB3Z Familial melanoma QC61.Y Orphanet 618 TPD-66LB3Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-66N4BU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-66N4BU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-66N4BU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-66N4BU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-66N4BU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-66N4BU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-66N4BU Semantic dementia 6D83 Orphanet 100069 TPD-66N4BU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-66PL0A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-66PL0A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-66Q3LA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-66Q3LA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-66RLD4 Familial melanoma QC61.Y Orphanet 618 TPD-66RLD4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-66UH4E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-66UH4E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-66UH4E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-66V7NU Kennedy disease 8B61.4 Orphanet 481 TPD-66V7NU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-66V7NU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-66V7NU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-66WCDG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-66WCDG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-66WCDG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-66YCEW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-66YQNW Kennedy disease 8B61.4 Orphanet 481 TPD-66YQNW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-66YQNW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-66YQNW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-674EMH Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-67AS20 Kennedy disease 8B61.4 Orphanet 481 TPD-67AS20 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-67AS20 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-67AS20 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-67BX9S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-67CE7S Kennedy disease 8B61.4 Orphanet 481 TPD-67CE7S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-67CE7S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-67CE7S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-67CEJ4 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-67N5XN Weaver syndrome LD2C Orphanet 3447 TPD-67NN4K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-67NSE1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-67PXK1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-67S3RM Familial melanoma QC61.Y Orphanet 618 TPD-67S3RM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-67S960 Noonan syndrome LD2F.15 Orphanet 648 TPD-67S960 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-67S960 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-67S960 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-67S960 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-67S960 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-67S960 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-67S960 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-67S960 Craniopharyngioma 2F9A Orphanet 54595 TPD-67S960 Cushing disease 5A70.0 Orphanet 96253 TPD-67SVLJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-67SVLJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-67SVLJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-67T50Q Kennedy disease 8B61.4 Orphanet 481 TPD-67T50Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-67T50Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-67T50Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-67UXU2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-67UXU2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-67UXU2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-67Y1VR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-67Y1VR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-67Y1VR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6802PU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-680RER Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-680RER Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-680RER Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-683GYG Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-684QDR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-684QDR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6895HW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6895HW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6895HW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6895HW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-68B2PJ Kennedy disease 8B61.4 Orphanet 481 TPD-68B2PJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-68B2PJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-68B2PJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-68FO0Q Weaver syndrome LD2C Orphanet 3447 TPD-68FXM3 Noonan syndrome LD2F.15 Orphanet 648 TPD-68FXM3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-68FXM3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-68FXM3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-68FXM3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-68FXM3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-68FXM3 Lynch syndrome 2B90.Y Orphanet 144 TPD-68FXM3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-68FXM3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-68IFFP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-68MM0P Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-68N2DO Noonan syndrome LD2F.15 Orphanet 648 TPD-68N2DO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-68N2DO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-68N2DO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-68N2DO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-68N2DO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-68N2DO Lynch syndrome 2B90.Y Orphanet 144 TPD-68N2DO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-68N2DO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-68NNDS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-68PX05 Kennedy disease 8B61.4 Orphanet 481 TPD-68PX05 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-68PX05 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-68PX05 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-68Q8RS Kennedy disease 8B61.4 Orphanet 481 TPD-68Q8RS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-68Q8RS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-68Q8RS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-68RN3R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-68TIAU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-68V941 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-68V941 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-68V941 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-68XZD0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-68Z71G Noonan syndrome LD2F.15 Orphanet 648 TPD-68Z71G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-68Z71G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-68Z71G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-68Z71G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-68Z71G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-68Z71G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-68Z71G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-68Z71G Craniopharyngioma 2F9A Orphanet 54595 TPD-68Z71G Cushing disease 5A70.0 Orphanet 96253 TPD-6932HJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6932HJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6932HJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6937SP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-6937SP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-6937SP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-6937SP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-6937SP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-6937SP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-6937SP Semantic dementia 6D83 Orphanet 100069 TPD-6937SP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-693BH1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-693BH1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-694Z42 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-694Z42 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-698ULC Noonan syndrome LD2F.15 Orphanet 648 TPD-698ULC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-698ULC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-698ULC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-698ULC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-698ULC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-698ULC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-698ULC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-698ULC Craniopharyngioma 2F9A Orphanet 54595 TPD-698ULC Cushing disease 5A70.0 Orphanet 96253 TPD-699PRT Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-69DGFT Kennedy disease 8B61.4 Orphanet 481 TPD-69DGFT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-69DGFT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-69DGFT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-69FUS0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-69FUS0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-69JZ37 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-69LPTV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-69M8HQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-69N22M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-69O50S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-69O50S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-69O50S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-69O50S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-69R49M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-69R49M Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-69SDVG Familial melanoma QC61.Y Orphanet 618 TPD-69SDVG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-69UTHS Kennedy disease 8B61.4 Orphanet 481 TPD-69UTHS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-69UTHS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-69UTHS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6A01Q8 Kennedy disease 8B61.4 Orphanet 481 TPD-6A01Q8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6A01Q8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6A01Q8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6A0207 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6A33LW Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6A3TKZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6A3TKZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6A7FPS Noonan syndrome LD2F.15 Orphanet 648 TPD-6A7FPS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6A7FPS Metachondromatosis LD24.2Y Orphanet 2499 TPD-6A7FPS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6A98IE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6A98IE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6AEXI1 Kennedy disease 8B61.4 Orphanet 481 TPD-6AEXI1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6AEXI1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6AEXI1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6AFRR4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6AFRTR Noonan syndrome LD2F.15 Orphanet 648 TPD-6AFRTR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6AFRTR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6AFRTR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6AFRTR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6AFRTR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6AFRTR Lynch syndrome 2B90.Y Orphanet 144 TPD-6AFRTR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6AFRTR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6AK343 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6AKE9K Kennedy disease 8B61.4 Orphanet 481 TPD-6AKE9K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6AKE9K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6AKE9K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6AKPBJ Achondroplasia LD24.00 Orphanet 15 TPD-6AKPBJ Hypochondroplasia LD24.01 Orphanet 429 TPD-6AKPBJ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-6AKPBJ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-6AKPBJ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-6AKPBJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6AKPBJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6AKPBJ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-6AKPBJ Muenke syndrome LD24.GY Orphanet 53271 TPD-6AKPBJ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-6AKPBJ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-6AKPBJ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-6AN6RR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6AN6RR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6AUBKE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6AUBKE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6AV78L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6AV78L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6AV78L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6AZ901 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-6AZ901 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-6B4Q6I Kennedy disease 8B61.4 Orphanet 481 TPD-6B4Q6I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6B4Q6I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6B4Q6I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6B7IKY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6B9Q68 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6B9Q68 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6B9Q68 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6BAYX6 Noonan syndrome LD2F.15 Orphanet 648 TPD-6BAYX6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6BAYX6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6BAYX6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6BAYX6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6BAYX6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6BAYX6 Lynch syndrome 2B90.Y Orphanet 144 TPD-6BAYX6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6BAYX6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6BCVKV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6BCVKV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6BCVKV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6BE93T Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-6BHB2P Noonan syndrome LD2F.15 Orphanet 648 TPD-6BHB2P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6BHB2P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6BHB2P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6BHB2P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6BHB2P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6BHB2P Lynch syndrome 2B90.Y Orphanet 144 TPD-6BHB2P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6BHB2P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6BIR3L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6BIR3L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6BIR3L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6BMX01 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6BNNN6 Kennedy disease 8B61.4 Orphanet 481 TPD-6BNNN6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6BNNN6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6BNNN6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6BT6VM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6BT6VM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6BT6VM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6BUPOA Burkitt lymphoma XH4KA9 Orphanet 543 TPD-6BUPOA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6BUPOA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6BVQRQ Familial melanoma QC61.Y Orphanet 618 TPD-6BVQRQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6BZYY5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6BZYY5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6BZYY5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6C22UA Noonan syndrome LD2F.15 Orphanet 648 TPD-6C22UA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6C22UA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6C22UA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6C22UA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6C22UA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6C22UA Lynch syndrome 2B90.Y Orphanet 144 TPD-6C22UA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6C22UA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6C35LE Kennedy disease 8B61.4 Orphanet 481 TPD-6C35LE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6C35LE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6C35LE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6C81U1 Familial melanoma QC61.Y Orphanet 618 TPD-6C81U1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6C8B54 Noonan syndrome LD2F.15 Orphanet 648 TPD-6C8B54 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6C8B54 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6C8B54 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6C8B54 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6C8B54 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6C8B54 Lynch syndrome 2B90.Y Orphanet 144 TPD-6C8B54 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6C8B54 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6C9ILL Kennedy disease 8B61.4 Orphanet 481 TPD-6C9ILL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6C9ILL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6C9ILL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6CFG28 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6CJ95Z Noonan syndrome LD2F.15 Orphanet 648 TPD-6CJ95Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6CJ95Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6CJ95Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6CJ95Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6CJ95Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6CJ95Z Lynch syndrome 2B90.Y Orphanet 144 TPD-6CJ95Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6CJ95Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6CK6N2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6CLDXE Noonan syndrome LD2F.15 Orphanet 648 TPD-6CLDXE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6CLDXE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6CLDXE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6CLDXE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6CLDXE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6CLDXE Lynch syndrome 2B90.Y Orphanet 144 TPD-6CLDXE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6CLDXE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6CN09D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6CN09D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6CN09D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6CN5HD Noonan syndrome LD2F.15 Orphanet 648 TPD-6CN5HD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6CN5HD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6CN5HD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6CN5HD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6CN5HD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6CN5HD Lynch syndrome 2B90.Y Orphanet 144 TPD-6CN5HD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6CN5HD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6CN922 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6CN922 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6CRFAK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6CSZBL Kennedy disease 8B61.4 Orphanet 481 TPD-6CSZBL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6CSZBL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6CSZBL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6CUNEY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6CVT8S Noonan syndrome LD2F.15 Orphanet 648 TPD-6CVT8S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6CVT8S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6CVT8S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6CVT8S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6CVT8S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6CVT8S Lynch syndrome 2B90.Y Orphanet 144 TPD-6CVT8S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6CVT8S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6CX5J2 Familial melanoma QC61.Y Orphanet 618 TPD-6CX5J2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6D1SPC Noonan syndrome LD2F.15 Orphanet 648 TPD-6D1SPC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6D1SPC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6D1SPC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6D1SPC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6D1SPC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6D1SPC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6D1SPC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6D1SPC Craniopharyngioma 2F9A Orphanet 54595 TPD-6D1SPC Cushing disease 5A70.0 Orphanet 96253 TPD-6D1SPC Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-6D1WN8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6D1WN8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6D1WN8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6D31Z4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6D31Z4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6D31Z4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6D4FD1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6D4FD1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6D4FD1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6D90BF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6D90BF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6D92CL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6DA7W5 Kennedy disease 8B61.4 Orphanet 481 TPD-6DA7W5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6DA7W5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6DA7W5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6DBRFJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6DBRFJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6DDGGQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6DDGGQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6DE47M Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6DE47M Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6DE47M Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6DE47M Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6DE47M Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6DE47M Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6DE47M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6DE47M Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6DE47M Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6DQEZA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6DQEZA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6DSQG2 Noonan syndrome LD2F.15 Orphanet 648 TPD-6DSQG2 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6DTOCX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6DU4G9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6DUMDZ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-6DUMDZ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-6DVWPU Burkitt lymphoma XH4KA9 Orphanet 543 TPD-6DVWPU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6DVWPU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6DWAPR Familial melanoma QC61.Y Orphanet 618 TPD-6DWAPR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6DX4MB Familial melanoma QC61.Y Orphanet 618 TPD-6DX4MB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6DXW1W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6DXW1W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6DXW1W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6E08RN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6E1MXC Noonan syndrome LD2F.15 Orphanet 648 TPD-6E1MXC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6E1MXC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6E1MXC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6E1MXC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6E1MXC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6E1MXC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6E1MXC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6E1MXC Craniopharyngioma 2F9A Orphanet 54595 TPD-6E1MXC Cushing disease 5A70.0 Orphanet 96253 TPD-6E2VVO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6E2VVO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6E4V3J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6E4V3J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6E6CSI Kennedy disease 8B61.4 Orphanet 481 TPD-6E6CSI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6E6CSI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6E6CSI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6EAOBC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6EAOBC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6EAOBC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6EDJUT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6EIXPG Kennedy disease 8B61.4 Orphanet 481 TPD-6EIXPG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6EIXPG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6EIXPG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6ELUPM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6ELUPM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6EP0MG Kennedy disease 8B61.4 Orphanet 481 TPD-6EP0MG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6EP0MG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6EP0MG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6EQASM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-6EQKEL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6EQR31 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6EQR31 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6EQR31 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6EUH77 Noonan syndrome LD2F.15 Orphanet 648 TPD-6EUH77 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6EUH77 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6EUH77 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6EUH77 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6EUH77 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6EUH77 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6EUH77 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6EUH77 Craniopharyngioma 2F9A Orphanet 54595 TPD-6EUH77 Cushing disease 5A70.0 Orphanet 96253 TPD-6EXETQ Noonan syndrome LD2F.15 Orphanet 648 TPD-6EXETQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6EXETQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6EXETQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6EXETQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6EXETQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6EXETQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6EXETQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6EXETQ Craniopharyngioma 2F9A Orphanet 54595 TPD-6EXETQ Cushing disease 5A70.0 Orphanet 96253 TPD-6F3JSP Kennedy disease 8B61.4 Orphanet 481 TPD-6F3JSP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6F3JSP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6F3JSP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6F8EFE Noonan syndrome LD2F.15 Orphanet 648 TPD-6F8EFE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6F8EFE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6F8EFE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6F8EFE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6F8EFE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6F8EFE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6F8EFE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6F8EFE Craniopharyngioma 2F9A Orphanet 54595 TPD-6F8EFE Cushing disease 5A70.0 Orphanet 96253 TPD-6F8LYU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6F8LYU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6F8LYU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6FA8UV Kennedy disease 8B61.4 Orphanet 481 TPD-6FA8UV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6FA8UV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6FA8UV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6FAX9H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6FAX9H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6FAX9H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6FAX9H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6FD2Z6 Noonan syndrome LD2F.15 Orphanet 648 TPD-6FD2Z6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6FD2Z6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6FD2Z6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6FD2Z6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6FD2Z6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6FD2Z6 Lynch syndrome 2B90.Y Orphanet 144 TPD-6FD2Z6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6FD2Z6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6FH56S Familial melanoma QC61.Y Orphanet 618 TPD-6FH56S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6FJ2CH Noonan syndrome LD2F.15 Orphanet 648 TPD-6FJ2CH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6FK99F Kennedy disease 8B61.4 Orphanet 481 TPD-6FK99F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6FK99F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6FK99F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6FKCBB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6FMKJ1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6FMKJ1 Neuroblastoma 2A00.11 Orphanet 635 TPD-6FMKJ1 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-6FMKJ1 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-6FMKJ1 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-6FNH75 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6FNH75 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6FNH75 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6FNH75 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6FNH75 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6FNH75 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6FNH75 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6FNH75 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6FNH75 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6FNKEF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6FNKEF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6FNKEF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6FNKEF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6FNS01 Kennedy disease 8B61.4 Orphanet 481 TPD-6FNS01 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6FNS01 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6FNS01 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6FQNEE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6FRFC7 Noonan syndrome LD2F.15 Orphanet 648 TPD-6FRFC7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6FRFC7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6FRFC7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6FRFC7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6FRFC7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6FRFC7 Lynch syndrome 2B90.Y Orphanet 144 TPD-6FRFC7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6FRFC7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6FS1O2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6FS1O2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6FS332 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6FSKTW Noonan syndrome LD2F.15 Orphanet 648 TPD-6FSKTW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6FSKTW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6FSKTW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6FSKTW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6FSKTW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6FSKTW Lynch syndrome 2B90.Y Orphanet 144 TPD-6FSKTW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6FSKTW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6FZ0NA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6FZ0NA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6FZOWI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6G1DUD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6G1DUD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6G1DUD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6G56BK Kennedy disease 8B61.4 Orphanet 481 TPD-6G56BK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6G56BK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6G56BK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6G5Y2A Noonan syndrome LD2F.15 Orphanet 648 TPD-6G5Y2A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6G5Y2A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6G5Y2A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6G5Y2A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6G5Y2A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6G5Y2A Lynch syndrome 2B90.Y Orphanet 144 TPD-6G5Y2A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6G5Y2A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6G8JR6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-6G8JR6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-6G9N5X Kennedy disease 8B61.4 Orphanet 481 TPD-6G9N5X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6G9N5X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6G9N5X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6GBXPI Familial melanoma QC61.Y Orphanet 618 TPD-6GBXPI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6GDQIG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6GDQIG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6GE7PR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6GNJPQ Peters anomaly 9C61.42 Orphanet 708 TPD-6GNJPQ Congenital glaucoma 9C61.40 Orphanet 98976 TPD-6GNJPQ Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-6GP37O Noonan syndrome LD2F.15 Orphanet 648 TPD-6GP37O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6GP37O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6GP37O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6GP37O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6GP37O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6GP37O Lynch syndrome 2B90.Y Orphanet 144 TPD-6GP37O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6GP37O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6GXGWM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6GXGWM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6GZZF0 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-6H2A3N Noonan syndrome LD2F.15 Orphanet 648 TPD-6H2A3N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6H2A3N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6H2A3N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6H2A3N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6H2A3N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6H2A3N Lynch syndrome 2B90.Y Orphanet 144 TPD-6H2A3N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6H2A3N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6H5PQB Noonan syndrome LD2F.15 Orphanet 648 TPD-6H5PQB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6H5PQB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6H5PQB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6H5PQB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6H5PQB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6H5PQB Lynch syndrome 2B90.Y Orphanet 144 TPD-6H5PQB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6H5PQB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6H7CS7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6H7RAL Noonan syndrome LD2F.15 Orphanet 648 TPD-6H7RAL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6H7RAL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6H7RAL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6H7RAL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6H7RAL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6H7RAL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6H7RAL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6H7RAL Craniopharyngioma 2F9A Orphanet 54595 TPD-6H7RAL Cushing disease 5A70.0 Orphanet 96253 TPD-6HJXBA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6HJXBA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6HPE1S Noonan syndrome LD2F.15 Orphanet 648 TPD-6HPE1S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6HPE1S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6HPE1S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6HPE1S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6HPE1S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6HPE1S Lynch syndrome 2B90.Y Orphanet 144 TPD-6HPE1S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6HPE1S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6HPN9T Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6HW2C6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6HX2C7 Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-6HZFZN Kennedy disease 8B61.4 Orphanet 481 TPD-6HZFZN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6HZFZN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6HZFZN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6I1QD5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6I1QD5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6I1QD5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6I30ZR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6I30ZR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6I5CYG Noonan syndrome LD2F.15 Orphanet 648 TPD-6I5CYG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6I5CYG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6I5CYG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6I5CYG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6I5CYG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6I5CYG Lynch syndrome 2B90.Y Orphanet 144 TPD-6I5CYG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6I5CYG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IAKGW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6IAKGW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6IAKGW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6IBNFM Noonan syndrome LD2F.15 Orphanet 648 TPD-6IBNFM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6IBNFM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IBNFM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6IBNFM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IBNFM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6IBNFM Lynch syndrome 2B90.Y Orphanet 144 TPD-6IBNFM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6IBNFM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IDU1P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6IDU1P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6IFMLO Noonan syndrome LD2F.15 Orphanet 648 TPD-6IFMLO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6IFMLO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IFMLO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6IFMLO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IFMLO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6IFMLO Lynch syndrome 2B90.Y Orphanet 144 TPD-6IFMLO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6IFMLO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IGO5W Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-6IGO5W Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-6IGO5W Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-6IHC7Z Kennedy disease 8B61.4 Orphanet 481 TPD-6IHC7Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6IHC7Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6IHC7Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6IIMHY Noonan syndrome LD2F.15 Orphanet 648 TPD-6IIMHY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6IIMHY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IIMHY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6IIMHY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IIMHY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6IIMHY Lynch syndrome 2B90.Y Orphanet 144 TPD-6IIMHY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6IIMHY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IJB1C Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-6IJYQY Noonan syndrome LD2F.15 Orphanet 648 TPD-6IJYQY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6IJYQY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IJYQY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6IJYQY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IJYQY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6IJYQY Lynch syndrome 2B90.Y Orphanet 144 TPD-6IJYQY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6IJYQY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IKBM1 Noonan syndrome LD2F.15 Orphanet 648 TPD-6IKBM1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6IKBM1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IKBM1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6IKBM1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IKBM1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6IKBM1 Lynch syndrome 2B90.Y Orphanet 144 TPD-6IKBM1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6IKBM1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6IM03U Noonan syndrome LD2F.15 Orphanet 648 TPD-6IM03U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6IM03U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6IM03U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6IM03U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6IM03U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6IM03U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6IM03U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6IM03U Craniopharyngioma 2F9A Orphanet 54595 TPD-6IM03U Cushing disease 5A70.0 Orphanet 96253 TPD-6IMYLS Kennedy disease 8B61.4 Orphanet 481 TPD-6IMYLS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6IMYLS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6IMYLS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6IOZW0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6IOZW0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6IOZW0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6IOZW0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6IOZW0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6IOZW0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6IOZW0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6IOZW0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6IOZW0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6IQZTK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6IQZTK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6IQZTK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6IRWSE Familial melanoma QC61.Y Orphanet 618 TPD-6IRWSE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6ITJYU Kennedy disease 8B61.4 Orphanet 481 TPD-6ITJYU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6ITJYU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6ITJYU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6IWRNI Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6IWRNI Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6IWRNI Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6IWRNI Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6IWRNI Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6IWRNI Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6IWRNI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6IWRNI Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6IWRNI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6IZXUW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6IZXUW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6J24P3 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-6J24P3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-6J5574 Noonan syndrome LD2F.15 Orphanet 648 TPD-6J5574 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6J5574 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6J5574 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6J5574 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6J5574 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6J5574 Lynch syndrome 2B90.Y Orphanet 144 TPD-6J5574 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6J5574 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JACMD Noonan syndrome LD2F.15 Orphanet 648 TPD-6JACMD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6JACMD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6JACMD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6JACMD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6JACMD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6JACMD Lynch syndrome 2B90.Y Orphanet 144 TPD-6JACMD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6JACMD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JADWH Noonan syndrome LD2F.15 Orphanet 648 TPD-6JADWH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6JBHJ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6JBHJ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6JC975 Noonan syndrome LD2F.15 Orphanet 648 TPD-6JC975 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6JC975 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6JC975 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6JC975 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6JC975 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6JC975 Lynch syndrome 2B90.Y Orphanet 144 TPD-6JC975 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6JC975 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JF9S1 Kennedy disease 8B61.4 Orphanet 481 TPD-6JF9S1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6JF9S1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6JF9S1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6JFKEK Noonan syndrome LD2F.15 Orphanet 648 TPD-6JFKEK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6JFKEK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6JFKEK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6JFKEK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6JFKEK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6JFKEK Lynch syndrome 2B90.Y Orphanet 144 TPD-6JFKEK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6JFKEK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JILI5 Kennedy disease 8B61.4 Orphanet 481 TPD-6JILI5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6JILI5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6JILI5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6JJE5Y Burkitt lymphoma XH4KA9 Orphanet 543 TPD-6JJE5Y Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6JKJPB Noonan syndrome LD2F.15 Orphanet 648 TPD-6JKJPB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6JKJPB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6JKJPB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6JKJPB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6JKJPB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6JKJPB Lynch syndrome 2B90.Y Orphanet 144 TPD-6JKJPB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6JKJPB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JM77B Noonan syndrome LD2F.15 Orphanet 648 TPD-6JM77B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6JM77B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6JM77B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6JM77B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6JM77B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6JM77B Lynch syndrome 2B90.Y Orphanet 144 TPD-6JM77B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6JM77B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6JMUTZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6JMUTZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6JOFN1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6JQDPL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6JQDPL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6JQDPL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6JQDPL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6JQR97 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6JQR97 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6JQR97 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6JQR97 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6JQSZM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6JQSZM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6JQSZM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6JV4ZU Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-6K60NO Kennedy disease 8B61.4 Orphanet 481 TPD-6K60NO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6K60NO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6K60NO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6K79ZK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6K79ZK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6K79ZK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6KBG3X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6KD9Y7 Kennedy disease 8B61.4 Orphanet 481 TPD-6KD9Y7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6KD9Y7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6KD9Y7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6KIAI0 Noonan syndrome LD2F.15 Orphanet 648 TPD-6KIAI0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6KIAI0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6KIAI0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6KIAI0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6KIAI0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6KIAI0 Lynch syndrome 2B90.Y Orphanet 144 TPD-6KIAI0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6KIAI0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6KLND9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6KLND9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6KLND9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6KNABQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6KNABQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6KNABQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6KNABQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6KQJQF Kennedy disease 8B61.4 Orphanet 481 TPD-6KQJQF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6KQJQF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6KQJQF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6KSRQT Noonan syndrome LD2F.15 Orphanet 648 TPD-6KSRQT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6KSRQT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6KSRQT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6KSRQT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6KSRQT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6KSRQT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6KSRQT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6KSRQT Craniopharyngioma 2F9A Orphanet 54595 TPD-6KSRQT Cushing disease 5A70.0 Orphanet 96253 TPD-6KSTZ2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6KUIM8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6KVH0I Noonan syndrome LD2F.15 Orphanet 648 TPD-6KVH0I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6KVH0I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6KVH0I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6KVH0I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6KVH0I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6KVH0I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6KVH0I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6KVH0I Craniopharyngioma 2F9A Orphanet 54595 TPD-6KVH0I Cushing disease 5A70.0 Orphanet 96253 TPD-6KZC1I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6KZC1I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6L05SP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6L05SP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6L05SP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6L0R8D Familial melanoma QC61.Y Orphanet 618 TPD-6L0R8D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6L1OCN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6L1OCN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6L3YR9 Weaver syndrome LD2C Orphanet 3447 TPD-6L5EKX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6L7VFO Burkitt lymphoma XH4KA9 Orphanet 543 TPD-6L7VFO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6L7VFO Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6L8R0C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6L8R0C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6L8R0C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6L9OX5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6L9OX5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6L9OX5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6LC36D Kennedy disease 8B61.4 Orphanet 481 TPD-6LC36D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LC36D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LC36D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LC7QH Kennedy disease 8B61.4 Orphanet 481 TPD-6LC7QH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LC7QH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LC7QH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LCM2Z Noonan syndrome LD2F.15 Orphanet 648 TPD-6LCM2Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6LCM2Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6LCM2Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6LCM2Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6LCM2Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6LCM2Z Lynch syndrome 2B90.Y Orphanet 144 TPD-6LCM2Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6LCM2Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6LD0I1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6LD0I1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6LD0I1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6LD0I1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6LEQOI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6LFE5I Familial melanoma QC61.Y Orphanet 618 TPD-6LFE5I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6LKR2G Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6LLZ5Q Kennedy disease 8B61.4 Orphanet 481 TPD-6LLZ5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LLZ5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LLZ5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LN8SQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-6LNSGJ Kennedy disease 8B61.4 Orphanet 481 TPD-6LNSGJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LNSGJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LNSGJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LPGBO Familial melanoma QC61.Y Orphanet 618 TPD-6LPGBO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6LRR3G Noonan syndrome LD2F.15 Orphanet 648 TPD-6LRR3G Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6LSDYP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6LU6NQ Kennedy disease 8B61.4 Orphanet 481 TPD-6LU6NQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LU6NQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LU6NQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LVCYM Kennedy disease 8B61.4 Orphanet 481 TPD-6LVCYM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6LVCYM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6LVCYM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6LVE1J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6M2DZ4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-6M2DZ4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-6M2DZ4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-6M2DZ4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-6M2DZ4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-6M2DZ4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-6M2DZ4 Semantic dementia 6D83 Orphanet 100069 TPD-6M2DZ4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-6M3RVJ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6M4CCX Kennedy disease 8B61.4 Orphanet 481 TPD-6M4CCX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6M4CCX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6M4CCX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6M5B2X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6M5B2X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6M5B2X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6M7BG8 Noonan syndrome LD2F.15 Orphanet 648 TPD-6M7BG8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6M7BG8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6M7BG8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6M7BG8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6M7BG8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6M7BG8 Lynch syndrome 2B90.Y Orphanet 144 TPD-6M7BG8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6M7BG8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6M9SJA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6M9SJA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6M9SJA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6M9SJA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6MAAEP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6MB2G0 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-6MBSPI Noonan syndrome LD2F.15 Orphanet 648 TPD-6MBSPI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6MBSPI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6MBSPI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6MBSPI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6MBSPI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6MBSPI Lynch syndrome 2B90.Y Orphanet 144 TPD-6MBSPI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6MBSPI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6MCFVN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6MD7V1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6MKE64 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6MKR0Y Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-6MLASO Kennedy disease 8B61.4 Orphanet 481 TPD-6MLASO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6MLASO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6MLASO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6MN1ET Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6MN1ET Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6MN1ET B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6MN1ET B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6MS986 Noonan syndrome LD2F.15 Orphanet 648 TPD-6MS986 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6MS986 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6MS986 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6MS986 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6MS986 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6MS986 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6MS986 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6MS986 Craniopharyngioma 2F9A Orphanet 54595 TPD-6MS986 Cushing disease 5A70.0 Orphanet 96253 TPD-6MSMA9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6MSMA9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6MSMA9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6MSMA9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6MUW5K Kennedy disease 8B61.4 Orphanet 481 TPD-6MUW5K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6MUW5K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6MUW5K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6MY257 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6MY257 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6MY257 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6MZ8JS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6MZ8JS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6N003O Kennedy disease 8B61.4 Orphanet 481 TPD-6N003O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6N003O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6N003O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6N4DOH Kennedy disease 8B61.4 Orphanet 481 TPD-6N4DOH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6N4DOH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6N4DOH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6NCPXY Kennedy disease 8B61.4 Orphanet 481 TPD-6NCPXY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6NCPXY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6NCPXY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6NHSPG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6NNA5P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6NNA5P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6NNA5P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6NNA5P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6NT5HP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6NVJGY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6NXY45 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6NYPYD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6NYVAE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6NZTZZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6O1P9K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6O1P9K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6O1UKH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6O5J95 Familial melanoma QC61.Y Orphanet 618 TPD-6O5J95 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6O6401 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6O65LT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6O65LT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6O65LT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6O7R93 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6O7R93 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6O7TTS Kennedy disease 8B61.4 Orphanet 481 TPD-6O7TTS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6O7TTS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6O7TTS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6OAG8I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6OB3ZR Kennedy disease 8B61.4 Orphanet 481 TPD-6OB3ZR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6OB3ZR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6OB3ZR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6OCW49 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-6OCW49 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-6OCW49 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-6OEQQU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6OFCK5 Kennedy disease 8B61.4 Orphanet 481 TPD-6OFCK5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6OFCK5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6OFCK5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6OFMGM Noonan syndrome LD2F.15 Orphanet 648 TPD-6OFMGM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6OFMGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6OFMGM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6OFMGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6OFMGM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6OFMGM Lynch syndrome 2B90.Y Orphanet 144 TPD-6OFMGM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6OFMGM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6OJ9NN Kennedy disease 8B61.4 Orphanet 481 TPD-6OJ9NN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6OJ9NN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6OJ9NN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6OJA3R Noonan syndrome LD2F.15 Orphanet 648 TPD-6OJA3R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6OJA3R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6OJA3R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6OJA3R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6OJA3R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6OJA3R Lynch syndrome 2B90.Y Orphanet 144 TPD-6OJA3R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6OJA3R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6OJWNQ Hirschsprung disease LB16.1 Orphanet 388 TPD-6OJWNQ Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-6OJWNQ Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-6OKGQ9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6OTL4U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6OTL4U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6OTL4U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6OV81K Kennedy disease 8B61.4 Orphanet 481 TPD-6OV81K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6OV81K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6OV81K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6OY7HE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6OY8AN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-6P75IM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6P75IM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6P75IM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6PCRUO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6PCRUO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6PCRUO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6PCRUO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6PDP1K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6PDP1K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6PETRC Noonan syndrome LD2F.15 Orphanet 648 TPD-6PETRC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6PETRC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6PETRC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6PETRC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6PETRC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6PETRC Lynch syndrome 2B90.Y Orphanet 144 TPD-6PETRC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6PETRC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6PF1HR Familial melanoma QC61.Y Orphanet 618 TPD-6PF1HR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6PGGDT Kennedy disease 8B61.4 Orphanet 481 TPD-6PGGDT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6PGGDT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6PGGDT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6PJ7WF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6PK3X5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6PMMBK Noonan syndrome LD2F.15 Orphanet 648 TPD-6PMMBK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6PMMBK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6PMMBK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6PMMBK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6PMMBK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6PMMBK Lynch syndrome 2B90.Y Orphanet 144 TPD-6PMMBK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6PMMBK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6PU66F Familial melanoma QC61.Y Orphanet 618 TPD-6PU66F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6PYA7Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6PYA7Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6PYA7Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6PYZZL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6PYZZL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6PZD1A Kennedy disease 8B61.4 Orphanet 481 TPD-6PZD1A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6PZD1A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6PZD1A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Q1RXE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6Q25EW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6Q25EW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6Q25EW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6Q283P Kennedy disease 8B61.4 Orphanet 481 TPD-6Q283P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6Q283P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6Q283P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Q4SOY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6QC97K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6QCHEZ Noonan syndrome LD2F.15 Orphanet 648 TPD-6QCHEZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6QGC74 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6QGC74 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6QGC74 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6QI5YL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6QL265 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6QL265 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6QL265 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6QL265 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6QL265 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6QL265 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6QL265 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6QL265 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6QL265 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6QSLM0 Kennedy disease 8B61.4 Orphanet 481 TPD-6QSLM0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6QSLM0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6QSLM0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6QU6MZ Kennedy disease 8B61.4 Orphanet 481 TPD-6QU6MZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6QU6MZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6QU6MZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6QVQL3 Noonan syndrome LD2F.15 Orphanet 648 TPD-6QVQL3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6QVQL3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6QVQL3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6QVQL3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6QVQL3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6QVQL3 Lynch syndrome 2B90.Y Orphanet 144 TPD-6QVQL3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6QVQL3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6QW0FL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-6QW0FL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-6QW8SI Familial melanoma QC61.Y Orphanet 618 TPD-6QW8SI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6R4A19 Kennedy disease 8B61.4 Orphanet 481 TPD-6R4A19 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6R4A19 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6R4A19 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6R4STH Noonan syndrome LD2F.15 Orphanet 648 TPD-6R4STH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6R4STH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6R4STH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6R4STH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6R4STH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6R4STH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6R4STH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6R4STH Craniopharyngioma 2F9A Orphanet 54595 TPD-6R4STH Cushing disease 5A70.0 Orphanet 96253 TPD-6R7W3K Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-6R7W3K Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-6R8P7U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6R8P7U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6R8P7U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6R8P7U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6R8XJM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6R8XJM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6R8XJM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6R8XJM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6RE7BN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6RE7BN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6RE7BN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6RE7BN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6REMJ9 Kennedy disease 8B61.4 Orphanet 481 TPD-6REMJ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6REMJ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6REMJ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6RF99A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6RF99A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6RK92Z Kennedy disease 8B61.4 Orphanet 481 TPD-6RK92Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6RK92Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6RK92Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6RLL4D Noonan syndrome LD2F.15 Orphanet 648 TPD-6RLL4D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6RLL4D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6RLL4D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6RLL4D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6RLL4D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6RLL4D Lynch syndrome 2B90.Y Orphanet 144 TPD-6RLL4D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6RLL4D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6ROAYD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6RP6W0 Noonan syndrome LD2F.15 Orphanet 648 TPD-6RP6W0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6RP6W0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6RP6W0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6RP6W0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6RP6W0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6RP6W0 Lynch syndrome 2B90.Y Orphanet 144 TPD-6RP6W0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6RP6W0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6RQBVB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6RQBVB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6RQBVB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6RQBVB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6RRJ36 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6RSV92 Kennedy disease 8B61.4 Orphanet 481 TPD-6RSV92 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6RSV92 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6RSV92 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6RT7K1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6RT7K1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6RT7K1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6RT7K1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6RU45G Noonan syndrome LD2F.15 Orphanet 648 TPD-6RU45G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6RU45G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6RU45G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6RU45G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6RU45G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6RU45G Lynch syndrome 2B90.Y Orphanet 144 TPD-6RU45G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6RU45G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6RWO11 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6RZBSZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6RZGTW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6RZGTW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6RZGTW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6S3MVO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6S5VUV Noonan syndrome LD2F.15 Orphanet 648 TPD-6S5VUV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6S5VUV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6S5VUV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6S5VUV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6S5VUV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6S5VUV Lynch syndrome 2B90.Y Orphanet 144 TPD-6S5VUV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6S5VUV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6SBTA7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6SBTA7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6SBTA7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6SFML4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6SFML4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6SH68A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6SH68A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6SIWNK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6SIWNK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6SIWNK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6SIXSE Noonan syndrome LD2F.15 Orphanet 648 TPD-6SIXSE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6SIXSE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6SIXSE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6SIXSE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6SIXSE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6SIXSE Lynch syndrome 2B90.Y Orphanet 144 TPD-6SIXSE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6SIXSE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6SJTTI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6SJTTI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6SLGOO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6SLGOO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6SLGOO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6SLGOO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6SO5C0 Kennedy disease 8B61.4 Orphanet 481 TPD-6SO5C0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6SO5C0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6SO5C0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6SQ779 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6SQ779 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6ST6NE Kennedy disease 8B61.4 Orphanet 481 TPD-6ST6NE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6ST6NE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6ST6NE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6SVD4J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6SVD4J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6SVD4J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6SVD4J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6SYX7K Kennedy disease 8B61.4 Orphanet 481 TPD-6SYX7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6SYX7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6SYX7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6T0QDY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6T0QDY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6T14AC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6T3XAH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6T3XAH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6T3XAH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6T9M2D Noonan syndrome LD2F.15 Orphanet 648 TPD-6T9M2D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6T9M2D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6T9M2D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6T9M2D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6T9M2D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6T9M2D Lynch syndrome 2B90.Y Orphanet 144 TPD-6T9M2D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6T9M2D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6TAO0V Kennedy disease 8B61.4 Orphanet 481 TPD-6TAO0V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6TAO0V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6TAO0V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6TASA9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6TASA9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6TASA9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6TBX0Z Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6TDBQ9 Kennedy disease 8B61.4 Orphanet 481 TPD-6TDBQ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6TDBQ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6TDBQ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6TE3HR Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-6TFIRY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6THABL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6THABL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6THABL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6THIYS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6THIYS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6TI0H9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6TI0H9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6TI0H9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6TI0H9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6TICK0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-6TICK0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-6TICK0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-6TICK0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-6TICK0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-6TICK0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-6TICK0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6TICK0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-6TICK0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-6TLNFV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6TLNFV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6TLNFV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6TLTDB Kennedy disease 8B61.4 Orphanet 481 TPD-6TLTDB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6TLTDB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6TLTDB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6TNDVR Noonan syndrome LD2F.15 Orphanet 648 TPD-6TNDVR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6TNDVR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6TNDVR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6TNDVR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6TNDVR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6TNDVR Lynch syndrome 2B90.Y Orphanet 144 TPD-6TNDVR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6TNDVR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6TRJ7H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6TRJ7H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6TRJ7H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6TSRH9 Kennedy disease 8B61.4 Orphanet 481 TPD-6TSRH9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6TSRH9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6TSRH9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6TUVKV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6TUVKV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6TUVKV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6TVTRD Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-6TVTRD Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-6TVTRD Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-6TVTRD Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-6TVTRD Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-6TVTRD Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-6TVTRD Semantic dementia 6D83 Orphanet 100069 TPD-6TVTRD Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-6TX9FB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6TX9FB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6TXT5H Noonan syndrome LD2F.15 Orphanet 648 TPD-6TXT5H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6TXT5H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6TXT5H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6TXT5H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6TXT5H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6TXT5H Lynch syndrome 2B90.Y Orphanet 144 TPD-6TXT5H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6TXT5H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6TXZ42 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6U19M4 Noonan syndrome LD2F.15 Orphanet 648 TPD-6U19M4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6U19M4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6U19M4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6U19M4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6U19M4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6U19M4 Lynch syndrome 2B90.Y Orphanet 144 TPD-6U19M4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6U19M4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6U8DPO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6U8S7Q Noonan syndrome LD2F.15 Orphanet 648 TPD-6U8S7Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6U8S7Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6U8S7Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6U8S7Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6U8S7Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6U8S7Q Lynch syndrome 2B90.Y Orphanet 144 TPD-6U8S7Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6U8S7Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6UA457 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6UA457 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6UA457 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6UA457 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6UASYA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6UASYA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6UASYA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6UB4GD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6UB4GD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6UB4GD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6UDD8W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6UDD8W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6UDD8W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6UDJS1 Noonan syndrome LD2F.15 Orphanet 648 TPD-6UDJS1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6UDJS1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6UDJS1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6UDJS1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6UDJS1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6UDJS1 Lynch syndrome 2B90.Y Orphanet 144 TPD-6UDJS1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6UDJS1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6UDSN3 Kennedy disease 8B61.4 Orphanet 481 TPD-6UDSN3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6UDSN3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6UDSN3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6UH7L6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6UHQBC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6UHQBC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6UHQBC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6UHQBC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6UHXWG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6UIIEL Kennedy disease 8B61.4 Orphanet 481 TPD-6UIIEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6UIIEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6UIIEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6UO6DG Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-6UQ8ZX Familial melanoma QC61.Y Orphanet 618 TPD-6UQ8ZX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6URM28 Noonan syndrome LD2F.15 Orphanet 648 TPD-6URM28 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6URM28 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6URM28 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6URM28 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6URM28 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6URM28 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6URM28 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6URM28 Craniopharyngioma 2F9A Orphanet 54595 TPD-6URM28 Cushing disease 5A70.0 Orphanet 96253 TPD-6URQA4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6URQA4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6URQA4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6US0ST Kennedy disease 8B61.4 Orphanet 481 TPD-6US0ST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6US0ST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6US0ST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6UV06K Noonan syndrome LD2F.15 Orphanet 648 TPD-6UV06K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6UV06K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6UV06K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6UV06K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6UV06K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6UV06K Lynch syndrome 2B90.Y Orphanet 144 TPD-6UV06K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6UV06K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6UWHDK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6UXYRY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6UXYRY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6UY427 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6UZTQG Kennedy disease 8B61.4 Orphanet 481 TPD-6UZTQG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6UZTQG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6UZTQG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6V1SL0 Noonan syndrome LD2F.15 Orphanet 648 TPD-6V1SL0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6V1SL0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6V1SL0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6V1SL0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6V1SL0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6V1SL0 Lynch syndrome 2B90.Y Orphanet 144 TPD-6V1SL0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6V1SL0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6V2XM1 Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-6V6OPN Kennedy disease 8B61.4 Orphanet 481 TPD-6V6OPN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6V6OPN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6V6OPN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6V789S Familial melanoma QC61.Y Orphanet 618 TPD-6V789S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6VHGA9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6VHGA9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6VI6BH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6VIQN7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6VIQN7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6VIQN7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6VJ9H9 Kennedy disease 8B61.4 Orphanet 481 TPD-6VJ9H9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6VJ9H9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6VJ9H9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6VJVRY Kennedy disease 8B61.4 Orphanet 481 TPD-6VJVRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6VJVRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6VJVRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6VMZRD Weaver syndrome LD2C Orphanet 3447 TPD-6VN3JU Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6VOFP7 Kennedy disease 8B61.4 Orphanet 481 TPD-6VOFP7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6VOFP7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6VOFP7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6VPCC7 Kennedy disease 8B61.4 Orphanet 481 TPD-6VPCC7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6VPCC7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6VPCC7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6VSLWE Noonan syndrome LD2F.15 Orphanet 648 TPD-6VSLWE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6VSLWE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6VSLWE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6VSLWE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6VSLWE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6VSLWE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6VSLWE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6VSLWE Craniopharyngioma 2F9A Orphanet 54595 TPD-6VSLWE Cushing disease 5A70.0 Orphanet 96253 TPD-6VUEY6 Kennedy disease 8B61.4 Orphanet 481 TPD-6VUEY6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6VUEY6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6VUEY6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6VVHLE Noonan syndrome LD2F.15 Orphanet 648 TPD-6VVHLE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6VVHLE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6VVHLE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6VVHLE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6VVHLE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6VVHLE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6VVHLE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6VVHLE Craniopharyngioma 2F9A Orphanet 54595 TPD-6VVHLE Cushing disease 5A70.0 Orphanet 96253 TPD-6VWFSZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6VWFSZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6VWFSZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6VWN41 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6VWN41 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6VWN41 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6VXCT1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6VXFA4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6VXFA4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6VXXF6 Familial melanoma QC61.Y Orphanet 618 TPD-6VXXF6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6W0O9F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6W0O9F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6W0O9F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6W4I83 Kennedy disease 8B61.4 Orphanet 481 TPD-6W4I83 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6W4I83 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6W4I83 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6W5ICK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6W8KHC Kennedy disease 8B61.4 Orphanet 481 TPD-6W8KHC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6W8KHC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6W8KHC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6WA3AJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6WA3AJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6WA3AJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6WC2FI Familial melanoma QC61.Y Orphanet 618 TPD-6WC2FI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6WDUI3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6WDUI3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6WG5F3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-6WGEDO Kennedy disease 8B61.4 Orphanet 481 TPD-6WGEDO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6WGEDO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6WGEDO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6WGJ0T Familial melanoma QC61.Y Orphanet 618 TPD-6WGJ0T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6WHRDM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6WHRDM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6WIT7A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6WIT7A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6WJXSH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-6WJXSH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-6WKI6K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6WKRZC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6WKRZC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6WKRZC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6WKRZC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6WKT8F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6WKT8F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6WRGKL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6WRGKL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6WRGKL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6WVD8O Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-6WZLY4 Noonan syndrome LD2F.15 Orphanet 648 TPD-6WZLY4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6WZLY4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6WZLY4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6WZLY4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6WZLY4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6WZLY4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6WZLY4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6WZLY4 Craniopharyngioma 2F9A Orphanet 54595 TPD-6WZLY4 Cushing disease 5A70.0 Orphanet 96253 TPD-6X71T2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6X9QXP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6XAHXI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-6XAHXI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-6XAO3G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6XAO3G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6XBKQ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-6XBKQ0 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6XC8G1 Noonan syndrome LD2F.15 Orphanet 648 TPD-6XC8G1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6XC8G1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6XC8G1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6XC8G1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6XC8G1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6XC8G1 Lynch syndrome 2B90.Y Orphanet 144 TPD-6XC8G1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6XC8G1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6XFWF0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6XFWF0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6XFWF0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6XML5D Kennedy disease 8B61.4 Orphanet 481 TPD-6XML5D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6XML5D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6XML5D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6XO6LC Familial melanoma QC61.Y Orphanet 618 TPD-6XO6LC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6XOR18 Noonan syndrome LD2F.15 Orphanet 648 TPD-6XOR18 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6XOR18 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6XOR18 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6XOR18 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6XOR18 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6XOR18 Lynch syndrome 2B90.Y Orphanet 144 TPD-6XOR18 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6XOR18 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6XOU1Z Noonan syndrome LD2F.15 Orphanet 648 TPD-6XOU1Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6XOU1Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6XOU1Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6XOU1Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6XOU1Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6XOU1Z Lynch syndrome 2B90.Y Orphanet 144 TPD-6XOU1Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6XOU1Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6XPLSI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6XPLSI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6XPLSI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6XTPF9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6XTPF9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6XTPF9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6XUDTL Noonan syndrome LD2F.15 Orphanet 648 TPD-6XUDTL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6XUDTL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6XUDTL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6XUDTL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6XUDTL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6XUDTL Lynch syndrome 2B90.Y Orphanet 144 TPD-6XUDTL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6XUDTL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6XV12C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6XV12C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6XV12C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6Y4KUQ Kennedy disease 8B61.4 Orphanet 481 TPD-6Y4KUQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6Y4KUQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6Y4KUQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Y6UY2 Kennedy disease 8B61.4 Orphanet 481 TPD-6Y6UY2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6Y6UY2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6Y6UY2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Y7F3U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-6Y7F3U Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-6Y7F3U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-6Y8EDL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-6Y8EDL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-6Y96IV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-6Y9LSP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6Y9LSP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6Y9LSP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6YAEZC Familial melanoma QC61.Y Orphanet 618 TPD-6YAEZC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6YBO46 Kennedy disease 8B61.4 Orphanet 481 TPD-6YBO46 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6YBO46 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6YBO46 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6YCESO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6YHHBW Familial melanoma QC61.Y Orphanet 618 TPD-6YHHBW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6YK6DB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-6YK6DB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-6YK6DB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-6YL1RJ Noonan syndrome LD2F.15 Orphanet 648 TPD-6YL1RJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6YL1RJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6YL1RJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6YL1RJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6YL1RJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6YL1RJ Lynch syndrome 2B90.Y Orphanet 144 TPD-6YL1RJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6YL1RJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6YLPKW Kennedy disease 8B61.4 Orphanet 481 TPD-6YLPKW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6YLPKW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6YLPKW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6YQ22Q Noonan syndrome LD2F.15 Orphanet 648 TPD-6YQ22Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6YQ22Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6YQ22Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6YQ22Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6YQ22Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6YQ22Q Lynch syndrome 2B90.Y Orphanet 144 TPD-6YQ22Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6YQ22Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6YUTCX Kennedy disease 8B61.4 Orphanet 481 TPD-6YUTCX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6YUTCX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6YUTCX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6YXTDO Kennedy disease 8B61.4 Orphanet 481 TPD-6YXTDO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6YXTDO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6YXTDO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Z1NPR Familial melanoma QC61.Y Orphanet 618 TPD-6Z1NPR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6Z3J6A Kennedy disease 8B61.4 Orphanet 481 TPD-6Z3J6A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6Z3J6A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6Z3J6A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6Z49NS Noonan syndrome LD2F.15 Orphanet 648 TPD-6Z49NS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6Z49NS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6Z49NS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6Z49NS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6Z49NS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6Z49NS Lynch syndrome 2B90.Y Orphanet 144 TPD-6Z49NS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6Z49NS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6Z91SL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6ZDXST Estrogen resistance syndrome 5A90 Orphanet 785 TPD-6ZF9V6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-6ZG40R Kennedy disease 8B61.4 Orphanet 481 TPD-6ZG40R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6ZG40R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6ZG40R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6ZI8IL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-6ZI8IL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-6ZK1K0 Noonan syndrome LD2F.15 Orphanet 648 TPD-6ZK1K0 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-6ZMGT6 Familial melanoma QC61.Y Orphanet 618 TPD-6ZMGT6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6ZMNLK Noonan syndrome LD2F.15 Orphanet 648 TPD-6ZMNLK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6ZMNLK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6ZMNLK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6ZMNLK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6ZMNLK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6ZMNLK Lynch syndrome 2B90.Y Orphanet 144 TPD-6ZMNLK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6ZMNLK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6ZRS8V Noonan syndrome LD2F.15 Orphanet 648 TPD-6ZRS8V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-6ZRS8V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6ZRS8V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-6ZRS8V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6ZRS8V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-6ZRS8V Lynch syndrome 2B90.Y Orphanet 144 TPD-6ZRS8V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-6ZRS8V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-6ZU6ZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-6ZU6ZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-6ZU6ZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-6ZU6ZR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-6ZUFB4 Familial melanoma QC61.Y Orphanet 618 TPD-6ZUFB4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6ZWFYJ Familial melanoma QC61.Y Orphanet 618 TPD-6ZWFYJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-6ZWXPH Noonan syndrome LD2F.15 Orphanet 648 TPD-6ZWXPH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-6ZWXPH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-6ZWXPH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-6ZWXPH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-6ZWXPH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-6ZWXPH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-6ZWXPH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-6ZWXPH Craniopharyngioma 2F9A Orphanet 54595 TPD-6ZWXPH Cushing disease 5A70.0 Orphanet 96253 TPD-6ZX6I7 Kennedy disease 8B61.4 Orphanet 481 TPD-6ZX6I7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-6ZX6I7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-6ZX6I7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-6ZXNZI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7007QH Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-7007QH Crouzon syndrome LD24.G1 Orphanet 207 TPD-7007QH Apert syndrome LD24.G2 Orphanet 87 TPD-7007QH Familial scaphocephaly syndrome, McGillivray type LD24.GY Orphanet 168624 TPD-7007QH Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome LD27.0Y Orphanet 1555 TPD-7007QH Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-7007QH Pfeiffer syndrome type 3 LD24.G0 Orphanet 93260 TPD-7007QH Pfeiffer syndrome type 2 LD24.G0 Orphanet 93259 TPD-7007QH Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-7007QH Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis LD24.GY Orphanet 596008 TPD-700NPI Kennedy disease 8B61.4 Orphanet 481 TPD-700NPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-700NPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-700NPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-701UEY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-702G2L Noonan syndrome LD2F.15 Orphanet 648 TPD-702G2L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-702G2L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-702G2L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-702G2L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-702G2L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-702G2L Lynch syndrome 2B90.Y Orphanet 144 TPD-702G2L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-702G2L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-702MP5 Familial melanoma QC61.Y Orphanet 618 TPD-702MP5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-702QB6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-705H5D Noonan syndrome LD2F.15 Orphanet 648 TPD-705H5D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-705H5D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-705H5D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-705H5D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-705H5D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-705H5D Lynch syndrome 2B90.Y Orphanet 144 TPD-705H5D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-705H5D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-706UN9 Noonan syndrome LD2F.15 Orphanet 648 TPD-706UN9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-706UN9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-706UN9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-706UN9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-706UN9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-706UN9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-706UN9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-706UN9 Craniopharyngioma 2F9A Orphanet 54595 TPD-706UN9 Cushing disease 5A70.0 Orphanet 96253 TPD-70C6O3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-70C6O3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-70C6O3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-70C6O3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-70CI4X Kennedy disease 8B61.4 Orphanet 481 TPD-70CI4X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-70CI4X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-70CI4X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-70FYGF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-70FYGF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-70IEDS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-70IEDS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-70JYK0 Familial melanoma QC61.Y Orphanet 618 TPD-70JYK0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-70KJJ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-70KJJ4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-70QJEH Noonan syndrome LD2F.15 Orphanet 648 TPD-70QJEH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-70QJEH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-70QJEH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-70QJEH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-70QJEH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-70QJEH Lynch syndrome 2B90.Y Orphanet 144 TPD-70QJEH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-70QJEH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-70TTKA Hirschsprung disease LB16.1 Orphanet 388 TPD-70TTKA Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-70TTKA Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-70X5J8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-70X5J8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-70X5J8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-70X5J8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-70YS1K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-70ZKXM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-70ZKXM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-70ZZH6 Noonan syndrome LD2F.15 Orphanet 648 TPD-70ZZH6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-70ZZH6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-70ZZH6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-70ZZH6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-70ZZH6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-70ZZH6 Lynch syndrome 2B90.Y Orphanet 144 TPD-70ZZH6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-70ZZH6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-710I3M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-710I3M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-710I3M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-710I3M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-714NHX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-714NHX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7161H5 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-7161H5 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-718IXQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-718L73 Noonan syndrome LD2F.15 Orphanet 648 TPD-718L73 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-718L73 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-718L73 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-718L73 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-718L73 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-718L73 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-718L73 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-718L73 Craniopharyngioma 2F9A Orphanet 54595 TPD-718L73 Cushing disease 5A70.0 Orphanet 96253 TPD-719T0Q Noonan syndrome LD2F.15 Orphanet 648 TPD-719T0Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-719T0Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-719T0Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-719T0Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-719T0Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-719T0Q Lynch syndrome 2B90.Y Orphanet 144 TPD-719T0Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-719T0Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-719UVQ Kennedy disease 8B61.4 Orphanet 481 TPD-719UVQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-719UVQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-719UVQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71ALGQ Noonan syndrome LD2F.15 Orphanet 648 TPD-71ALGQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-71ALGQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71ALGQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-71ALGQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71ALGQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-71ALGQ Lynch syndrome 2B90.Y Orphanet 144 TPD-71ALGQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-71ALGQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-71BR7T Kennedy disease 8B61.4 Orphanet 481 TPD-71BR7T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-71BR7T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-71BR7T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71D5YL Kennedy disease 8B61.4 Orphanet 481 TPD-71D5YL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-71D5YL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-71D5YL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71DGJV Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-71DGJV Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-71DGJV Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-71DGJV Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-71DGJV Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-71DGJV Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-71DGJV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-71DGJV Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-71DGJV Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-71E043 Kennedy disease 8B61.4 Orphanet 481 TPD-71E043 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-71E043 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-71E043 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71HTN0 Kennedy disease 8B61.4 Orphanet 481 TPD-71HTN0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-71HTN0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-71HTN0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71I2M8 Noonan syndrome LD2F.15 Orphanet 648 TPD-71I2M8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-71I2M8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71I2M8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-71I2M8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71I2M8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-71I2M8 Lynch syndrome 2B90.Y Orphanet 144 TPD-71I2M8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-71I2M8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-71IP1W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-71IP1W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-71IP1W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-71LPAW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-71LPAW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-71LPAW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-71LPAW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-71MH5O Noonan syndrome LD2F.15 Orphanet 648 TPD-71MH5O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-71MH5O Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-71MH5O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71MH5O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71MH5O Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-71MH5O Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-71MH5O Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-71MH5O Craniopharyngioma 2F9A Orphanet 54595 TPD-71MH5O Cushing disease 5A70.0 Orphanet 96253 TPD-71N0U7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-71N0U7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-71P6CM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-71T2E9 Noonan syndrome LD2F.15 Orphanet 648 TPD-71T2E9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-71T2E9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-71T2E9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71T2E9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71T2E9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-71T2E9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-71T2E9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-71T2E9 Craniopharyngioma 2F9A Orphanet 54595 TPD-71T2E9 Cushing disease 5A70.0 Orphanet 96253 TPD-71TUL7 Noonan syndrome LD2F.15 Orphanet 648 TPD-71TUL7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-71TUL7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-71TUL7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71TUL7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71TUL7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-71TUL7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-71TUL7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-71TUL7 Craniopharyngioma 2F9A Orphanet 54595 TPD-71TUL7 Cushing disease 5A70.0 Orphanet 96253 TPD-71WOH1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-71Z4BD Kennedy disease 8B61.4 Orphanet 481 TPD-71Z4BD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-71Z4BD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-71Z4BD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-71ZQHK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-71ZQHK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-71ZQHK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-71ZQHK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-71ZQHK Neuroblastoma 2A00.11 Orphanet 635 TPD-71ZQHK Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-71ZQHK ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-71ZQHK ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-71ZQHK Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-71ZSRN Noonan syndrome LD2F.15 Orphanet 648 TPD-71ZSRN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-71ZSRN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-71ZSRN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-71ZSRN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-71ZSRN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-71ZSRN Lynch syndrome 2B90.Y Orphanet 144 TPD-71ZSRN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-71ZSRN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-72057P Weaver syndrome LD2C Orphanet 3447 TPD-722B99 Kennedy disease 8B61.4 Orphanet 481 TPD-722B99 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-722B99 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-722B99 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-723H5B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-723H5B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-723H5B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7289UC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7289UC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7289UC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-728DOM Kennedy disease 8B61.4 Orphanet 481 TPD-728DOM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-728DOM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-728DOM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-72C5GQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-72C5GQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-72C5GQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-72HDPW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-72HDS1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-72HDS1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-72HDS1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-72J82N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-72NPI1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-72NS9Q Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-72PVIH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-72PVIH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-72YMN1 Noonan syndrome LD2F.15 Orphanet 648 TPD-72YMN1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-72YMN1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-72YMN1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-72YMN1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-72YMN1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-72YMN1 Lynch syndrome 2B90.Y Orphanet 144 TPD-72YMN1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-72YMN1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-72Z4L1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7315QN Kennedy disease 8B61.4 Orphanet 481 TPD-7315QN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7315QN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7315QN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7338LU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7390S0 Noonan syndrome LD2F.15 Orphanet 648 TPD-7390S0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7390S0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7390S0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7390S0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7390S0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7390S0 Lynch syndrome 2B90.Y Orphanet 144 TPD-7390S0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7390S0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-73BHEV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-73BHEV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-73BHEV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-73GX9T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-73GX9T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-73GX9T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-73IENL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-73IENL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-73L1QO Noonan syndrome LD2F.15 Orphanet 648 TPD-73L1QO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-73L1QO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-73L1QO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-73L1QO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-73L1QO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-73L1QO Lynch syndrome 2B90.Y Orphanet 144 TPD-73L1QO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-73L1QO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-73PBO9 Noonan syndrome LD2F.15 Orphanet 648 TPD-73PBO9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-73PBO9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-73PBO9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-73PBO9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-73PBO9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-73PBO9 Lynch syndrome 2B90.Y Orphanet 144 TPD-73PBO9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-73PBO9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-73RYBX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-73RYBX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-73TDX4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-73TDX4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-73VTC0 Kennedy disease 8B61.4 Orphanet 481 TPD-73VTC0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-73VTC0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-73VTC0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-73WT84 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-73WT84 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-73WT84 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-73ZUES Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-741R9G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-741R9G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-741R9G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-741R9G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-741V6H Kennedy disease 8B61.4 Orphanet 481 TPD-741V6H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-741V6H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-741V6H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7425QN Weaver syndrome LD2C Orphanet 3447 TPD-7437GD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7437GD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-748SGG Kennedy disease 8B61.4 Orphanet 481 TPD-748SGG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-748SGG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-748SGG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-749VXJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-74DOT5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-74DOT5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-74DOT5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-74EI7F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-74EI7F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-74EI7F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-74EI7F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-74F6WF Familial melanoma QC61.Y Orphanet 618 TPD-74F6WF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-74GE03 Kennedy disease 8B61.4 Orphanet 481 TPD-74GE03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-74GE03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-74GE03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-74GUTE Noonan syndrome LD2F.15 Orphanet 648 TPD-74GUTE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-74GUTE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-74GUTE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-74GUTE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-74GUTE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-74GUTE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-74GUTE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-74GUTE Craniopharyngioma 2F9A Orphanet 54595 TPD-74GUTE Cushing disease 5A70.0 Orphanet 96253 TPD-74HZBY Familial melanoma QC61.Y Orphanet 618 TPD-74ICJ6 Kennedy disease 8B61.4 Orphanet 481 TPD-74ICJ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-74ICJ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-74ICJ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-74J0MR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-74J0MR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-74PTQG Familial melanoma QC61.Y Orphanet 618 TPD-74PTQG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-74US9T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-74US9T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-74US9T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-74VIXA Kennedy disease 8B61.4 Orphanet 481 TPD-74VIXA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-74VIXA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-74VIXA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-74VVJS Kennedy disease 8B61.4 Orphanet 481 TPD-74VVJS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-74VVJS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-74VVJS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-74VZLU Noonan syndrome LD2F.15 Orphanet 648 TPD-74VZLU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-74VZLU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-74VZLU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-74VZLU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-74VZLU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-74VZLU Lynch syndrome 2B90.Y Orphanet 144 TPD-74VZLU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-74VZLU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-74XKFD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-752D54 Kennedy disease 8B61.4 Orphanet 481 TPD-752D54 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-752D54 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-752D54 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-75723W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-75723W Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-75723W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-75CWPV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-75CWPV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-75CWPV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-75GXTH Noonan syndrome LD2F.15 Orphanet 648 TPD-75GXTH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-75GXTH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-75GXTH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-75GXTH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-75GXTH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-75GXTH Lynch syndrome 2B90.Y Orphanet 144 TPD-75GXTH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-75GXTH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-75IJL3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-75IJL3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-75IPEV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-75IPEV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-75IPEV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-75IPEV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-75KJ3A Noonan syndrome LD2F.15 Orphanet 648 TPD-75KJ3A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-75KJ3A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-75KJ3A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-75KJ3A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-75KJ3A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-75KJ3A Lynch syndrome 2B90.Y Orphanet 144 TPD-75KJ3A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-75KJ3A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-75OIL8 Kennedy disease 8B61.4 Orphanet 481 TPD-75OIL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-75OIL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-75OIL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-75P0IW Kennedy disease 8B61.4 Orphanet 481 TPD-75P0IW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-75P0IW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-75P0IW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-75QTVB Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-75S0MD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-75S0MD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-75S0MD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-75SNMP Familial melanoma QC61.Y Orphanet 618 TPD-75SNMP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-75W03K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-75W03K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-75W03K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-75W5RB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-75W5RB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-75W5RB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-75W5RB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-75WTUK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-760NJ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-760NJ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-760NJ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-760NJ6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7662BG Noonan syndrome LD2F.15 Orphanet 648 TPD-7662BG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7662BG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7662BG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7662BG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7662BG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7662BG Lynch syndrome 2B90.Y Orphanet 144 TPD-7662BG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7662BG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-767WOI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-767WOI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-767WOI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-767WOI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-767WOI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-767WOI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-767WOI Semantic dementia 6D83 Orphanet 100069 TPD-767WOI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-76BD8Z Noonan syndrome LD2F.15 Orphanet 648 TPD-76BD8Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-76BD8Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-76BD8Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-76BD8Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-76BD8Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-76BD8Z Lynch syndrome 2B90.Y Orphanet 144 TPD-76BD8Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-76BD8Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-76BUYV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-76JCDD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-76PEV3 Kennedy disease 8B61.4 Orphanet 481 TPD-76PEV3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-76PEV3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-76PEV3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-76W4G1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-76W4G1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-76W4G1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-771MNU Kennedy disease 8B61.4 Orphanet 481 TPD-771MNU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-771MNU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-771MNU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-773KH3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-773KH3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-773KH3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-773QF3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-773QF3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-774HKD Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-7756HU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7756HU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7756HU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-775S35 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-775S35 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-775S35 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-775S35 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-775V6L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-77837I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-778UXY Achondroplasia LD24.00 Orphanet 15 TPD-778UXY Hypochondroplasia LD24.01 Orphanet 429 TPD-778UXY Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-778UXY Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-778UXY Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-778UXY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-778UXY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-778UXY Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-778UXY Muenke syndrome LD24.GY Orphanet 53271 TPD-778UXY Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-778UXY Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-778UXY Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-77H3AM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-77H3AM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-77H3AM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-77H3AM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-77JWUD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-77MKJI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-77MKJI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-77MKJI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-77MKJI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-77O547 Familial melanoma QC61.Y Orphanet 618 TPD-77O547 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-77OB5N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-77Q0D7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-77Q0D7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-77Q0D7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-77RIR0 Noonan syndrome LD2F.15 Orphanet 648 TPD-77RIR0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-77RIR0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-77RIR0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-77RIR0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-77RIR0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-77RIR0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-77RIR0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-77RIR0 Craniopharyngioma 2F9A Orphanet 54595 TPD-77RIR0 Cushing disease 5A70.0 Orphanet 96253 TPD-77RUUT Kennedy disease 8B61.4 Orphanet 481 TPD-77RUUT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-77RUUT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-77RUUT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-77VSYC Familial melanoma QC61.Y Orphanet 618 TPD-77VSYC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-77WZXA Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-780HCL Noonan syndrome LD2F.15 Orphanet 648 TPD-780HCL Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-785LZY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-785LZY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-786PT3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-786YMH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-786YMH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-786YMH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-788YRI Kennedy disease 8B61.4 Orphanet 481 TPD-788YRI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-788YRI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-788YRI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-789H9Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-789H9Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-789H9Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-789H9Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-78BAPT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-78BRR2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-78BRR2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-78BRR2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-78DO0N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-78DO0N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-78EM1Q Noonan syndrome LD2F.15 Orphanet 648 TPD-78EM1Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-78EM1Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-78EM1Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-78EM1Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-78EM1Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-78EM1Q Lynch syndrome 2B90.Y Orphanet 144 TPD-78EM1Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-78EM1Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-78JMRB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-78JMRB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-78LL4G Kennedy disease 8B61.4 Orphanet 481 TPD-78LL4G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-78LL4G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-78LL4G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-78QHQ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-78QHQ5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-78QHQ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-78QHQ5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-78QHQ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-78QHQ5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-78QHQ5 Lynch syndrome 2B90.Y Orphanet 144 TPD-78QHQ5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-78QHQ5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-78RWKC Kennedy disease 8B61.4 Orphanet 481 TPD-78RWKC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-78RWKC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-78RWKC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-78VGRU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-78VGRU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-78VGRU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-78W9JY Kennedy disease 8B61.4 Orphanet 481 TPD-78W9JY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-78W9JY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-78W9JY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-78XGWR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-78XGWR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-78YO7I Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-790W1E Kennedy disease 8B61.4 Orphanet 481 TPD-790W1E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-790W1E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-790W1E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7918EY Kennedy disease 8B61.4 Orphanet 481 TPD-7918EY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7918EY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7918EY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7929NY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-792MGW Familial melanoma QC61.Y Orphanet 618 TPD-792MGW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-793XT3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-795TMX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-795WFS Kennedy disease 8B61.4 Orphanet 481 TPD-795WFS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-795WFS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-795WFS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7979JM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7985Y1 Kennedy disease 8B61.4 Orphanet 481 TPD-7985Y1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7985Y1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7985Y1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-79COC9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-79COC9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-79COC9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-79HBJY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-79HBJY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-79HGDO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-79HGDO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-79HGDO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-79HGDO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-79HICP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-79QOTH Noonan syndrome LD2F.15 Orphanet 648 TPD-79QOTH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-79RWN2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-79VOBK Noonan syndrome LD2F.15 Orphanet 648 TPD-79VOBK Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-79W76N Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-79X3KH Noonan syndrome LD2F.15 Orphanet 648 TPD-79X3KH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-79X3KH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-79X3KH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-79X3KH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-79X3KH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-79X3KH Lynch syndrome 2B90.Y Orphanet 144 TPD-79X3KH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-79X3KH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-79ZJ5R Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7A044H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7A044H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-7A8IQY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7A8IQY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7A8IQY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7A97F8 Kennedy disease 8B61.4 Orphanet 481 TPD-7A97F8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7A97F8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7A97F8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7AAF5Q Achondroplasia LD24.00 Orphanet 15 TPD-7AAF5Q Hypochondroplasia LD24.01 Orphanet 429 TPD-7AAF5Q Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-7AAF5Q Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-7AAF5Q Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-7AAF5Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7AAF5Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7AAF5Q Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-7AAF5Q Muenke syndrome LD24.GY Orphanet 53271 TPD-7AAF5Q Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-7AAF5Q Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-7AAF5Q Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-7AB86Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7AB86Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7AB86Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7ABVNU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7ABVNU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7ABVNU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7AF0QN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7AF0QN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7AG1D2 Kennedy disease 8B61.4 Orphanet 481 TPD-7AG1D2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7AG1D2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7AG1D2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7AKWWE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7AKWWE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7AKWWE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7ANWSV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7ANWSV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7ANWSV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7AUB9I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7AUB9I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7AUB9I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7AV07V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7AWJY3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7AZ7D5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7AZ7D5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7AZ7D5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7AZ7D5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7AZZ06 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7B4FRX Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-7B97BR Noonan syndrome LD2F.15 Orphanet 648 TPD-7B97BR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7B97BR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7B97BR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7B97BR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7B97BR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7B97BR Lynch syndrome 2B90.Y Orphanet 144 TPD-7B97BR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7B97BR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7B9KUD Familial melanoma QC61.Y Orphanet 618 TPD-7BCOID Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7BCOID Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7BCOID Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7BCWPF Kennedy disease 8B61.4 Orphanet 481 TPD-7BCWPF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7BCWPF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7BCWPF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7BDL5P Kennedy disease 8B61.4 Orphanet 481 TPD-7BDL5P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7BDL5P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7BDL5P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7BHO3C Kennedy disease 8B61.4 Orphanet 481 TPD-7BHO3C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7BHO3C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7BHO3C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7BIMXE Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-7BJHPV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7BO4UW Kennedy disease 8B61.4 Orphanet 481 TPD-7BO4UW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7BO4UW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7BO4UW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7BR5RJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7BTO7B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7BV7A8 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-7BV7A8 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-7BV7A8 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-7BV7A8 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-7BV7A8 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-7BV7A8 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-7BV7A8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7BV7A8 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-7BV7A8 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7BVJMJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7BVJMJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7BVJMJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7C0QVJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7C0QVJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7C0QVJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7C24QV Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-7C24QV MODY 5A13.6 Orphanet 552 TPD-7C2G9F Noonan syndrome LD2F.15 Orphanet 648 TPD-7C2G9F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7C2G9F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7C2G9F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7C2G9F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7C2G9F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7C2G9F Lynch syndrome 2B90.Y Orphanet 144 TPD-7C2G9F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7C2G9F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7C4SR7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7C5MR4 Noonan syndrome LD2F.15 Orphanet 648 TPD-7C5MR4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7C5MR4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7C5MR4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7C5MR4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7C5MR4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7C5MR4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7C5MR4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7C5MR4 Craniopharyngioma 2F9A Orphanet 54595 TPD-7C5MR4 Cushing disease 5A70.0 Orphanet 96253 TPD-7CBOPT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7CBOPT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7CBOPT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7CFULQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7CFULQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7CFULQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7CFULQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7CGXWW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7CGXWW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7CO9ZQ Noonan syndrome LD2F.15 Orphanet 648 TPD-7CO9ZQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7CO9ZQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7CO9ZQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7CO9ZQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7CO9ZQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7CO9ZQ Lynch syndrome 2B90.Y Orphanet 144 TPD-7CO9ZQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7CO9ZQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7CV5P3 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-7CW0G5 Kennedy disease 8B61.4 Orphanet 481 TPD-7CW0G5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7CW0G5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7CW0G5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7CX93D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7CX93D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7CX93D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7CXM3N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7CYM2T Kennedy disease 8B61.4 Orphanet 481 TPD-7CYM2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7CYM2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7CYM2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7CYQ9U Kennedy disease 8B61.4 Orphanet 481 TPD-7CYQ9U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7CYQ9U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7CYQ9U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7D0BSK Kennedy disease 8B61.4 Orphanet 481 TPD-7D0BSK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7D0BSK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7D0BSK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7D14HI Noonan syndrome LD2F.15 Orphanet 648 TPD-7D14HI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7D14HI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7D14HI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7D14HI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7D14HI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7D14HI Lynch syndrome 2B90.Y Orphanet 144 TPD-7D14HI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7D14HI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7D1BDX Kennedy disease 8B61.4 Orphanet 481 TPD-7D1BDX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7D1BDX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7D1BDX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7D4V30 Noonan syndrome LD2F.15 Orphanet 648 TPD-7D4V30 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7D4V30 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7D4V30 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7D4V30 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7D4V30 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7D4V30 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7D4V30 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7D4V30 Craniopharyngioma 2F9A Orphanet 54595 TPD-7D4V30 Cushing disease 5A70.0 Orphanet 96253 TPD-7D4XYL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7D6PFE Kennedy disease 8B61.4 Orphanet 481 TPD-7D6PFE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7D6PFE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7D6PFE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7D9GV1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7D9GV1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7DC14I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7DC14I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7DCUED Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7DCUED Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7DCUED Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7DCZ3K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7DCZ3K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7DCZ3K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7DFK9S Noonan syndrome LD2F.15 Orphanet 648 TPD-7DFK9S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7DFK9S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7DFK9S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7DFK9S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7DFK9S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7DFK9S Lynch syndrome 2B90.Y Orphanet 144 TPD-7DFK9S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7DFK9S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7DGT8W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7DGT8W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7DI00M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7DI00M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7DI8BB Kennedy disease 8B61.4 Orphanet 481 TPD-7DI8BB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7DI8BB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7DI8BB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7DIZLQ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-7DN8RZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7DN8RZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7DU7FJ Noonan syndrome LD2F.15 Orphanet 648 TPD-7DU7FJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7DU7FJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7DU7FJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7DU7FJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7DU7FJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7DU7FJ Lynch syndrome 2B90.Y Orphanet 144 TPD-7DU7FJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7DU7FJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7DW01Y Kennedy disease 8B61.4 Orphanet 481 TPD-7DW01Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7DW01Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7DW01Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7E2TTE Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-7E3AG6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7E3AG6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7E3FUR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7E3FUR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7E3FUR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7E3FUR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7E3VUJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7E5ESI Kennedy disease 8B61.4 Orphanet 481 TPD-7E5ESI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7E5ESI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7E5ESI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7E8EAD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7E9VX0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7ED7GK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7ED7GK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7ED7GK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7EDRMF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7EDRMF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7EFUJV Kennedy disease 8B61.4 Orphanet 481 TPD-7EFUJV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7EFUJV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7EFUJV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7EIGT6 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-7EIGT6 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-7EJYIG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7EJYIG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7ELGIF Kennedy disease 8B61.4 Orphanet 481 TPD-7ELGIF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7ELGIF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7ELGIF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ELN53 Familial melanoma QC61.Y Orphanet 618 TPD-7ELN53 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7ENMB5 Kennedy disease 8B61.4 Orphanet 481 TPD-7ENMB5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7ENMB5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7ENMB5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ENRIT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7ENRIT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7ENRIT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7EQDMQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7EUDMV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7EW0MT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7EY84N Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-7F2Q3H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7F2Q3H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-7F37C6 Noonan syndrome LD2F.15 Orphanet 648 TPD-7F37C6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7F37C6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7F37C6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7F37C6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7F37C6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7F37C6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7F37C6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7F37C6 Craniopharyngioma 2F9A Orphanet 54595 TPD-7F37C6 Cushing disease 5A70.0 Orphanet 96253 TPD-7F4U3L Kennedy disease 8B61.4 Orphanet 481 TPD-7F4U3L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7F4U3L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7F4U3L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7F7JJ4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7F7JJ4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7F8IJ6 Kennedy disease 8B61.4 Orphanet 481 TPD-7F8IJ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7F8IJ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7F8IJ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7F8LET Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7F8LET Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7F8LET B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7F8LET B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7FA4MD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7FA4MD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7FA4MD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7FBNYU Noonan syndrome LD2F.15 Orphanet 648 TPD-7FBNYU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7FBNYU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7FBNYU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FBNYU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FBNYU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7FBNYU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7FBNYU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7FBNYU Craniopharyngioma 2F9A Orphanet 54595 TPD-7FBNYU Cushing disease 5A70.0 Orphanet 96253 TPD-7FBPI7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7FBPI7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7FBPI7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7FBPI7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7FBYRQ Kennedy disease 8B61.4 Orphanet 481 TPD-7FBYRQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7FBYRQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7FBYRQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7FCXRF Noonan syndrome LD2F.15 Orphanet 648 TPD-7FCXRF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7FCXRF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7FCXRF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FCXRF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FCXRF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7FCXRF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7FCXRF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7FCXRF Craniopharyngioma 2F9A Orphanet 54595 TPD-7FCXRF Cushing disease 5A70.0 Orphanet 96253 TPD-7FDSRH Noonan syndrome LD2F.15 Orphanet 648 TPD-7FDSRH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7FDSRH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FDSRH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7FDSRH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FDSRH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7FDSRH Lynch syndrome 2B90.Y Orphanet 144 TPD-7FDSRH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7FDSRH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7FIT2B Noonan syndrome LD2F.15 Orphanet 648 TPD-7FIT2B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7FIT2B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FIT2B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7FIT2B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FIT2B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7FIT2B Lynch syndrome 2B90.Y Orphanet 144 TPD-7FIT2B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7FIT2B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7FIWIT Noonan syndrome LD2F.15 Orphanet 648 TPD-7FIWIT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7FIWIT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FIWIT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7FIWIT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FIWIT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7FIWIT Lynch syndrome 2B90.Y Orphanet 144 TPD-7FIWIT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7FIWIT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7FO08H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7FO08H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7FO08H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7FO08H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7FQITW Kennedy disease 8B61.4 Orphanet 481 TPD-7FQITW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7FQITW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7FQITW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7FT5BT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7FU38Z Weaver syndrome LD2C Orphanet 3447 TPD-7FUHFI Noonan syndrome LD2F.15 Orphanet 648 TPD-7FUHFI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7FUHFI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7FUHFI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7FUHFI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7FUHFI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7FUHFI Lynch syndrome 2B90.Y Orphanet 144 TPD-7FUHFI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7FUHFI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7FXJQH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7FXJQH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7FXJQH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7FXJQH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7G0MKI Kennedy disease 8B61.4 Orphanet 481 TPD-7G0MKI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7G0MKI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7G0MKI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7G16LU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7G3NEI Burkitt lymphoma XH4KA9 Orphanet 543 TPD-7G3NEI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7G3NEI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7G43VM Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-7G52P3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7G52P3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7G52P3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7G52P3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7G5ZFK Kennedy disease 8B61.4 Orphanet 481 TPD-7G5ZFK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7G5ZFK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7G5ZFK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7G637K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7G637K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7G6CPH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7G8J9L Noonan syndrome LD2F.15 Orphanet 648 TPD-7G8J9L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7G8J9L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7G8J9L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7G8J9L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7G8J9L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7G8J9L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7G8J9L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7G8J9L Craniopharyngioma 2F9A Orphanet 54595 TPD-7G8J9L Cushing disease 5A70.0 Orphanet 96253 TPD-7GCXBZ Noonan syndrome LD2F.15 Orphanet 648 TPD-7GCXBZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7GCXBZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7GCXBZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7GCXBZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7GCXBZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7GCXBZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7GCXBZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7GCXBZ Craniopharyngioma 2F9A Orphanet 54595 TPD-7GCXBZ Cushing disease 5A70.0 Orphanet 96253 TPD-7GD1BV Noonan syndrome LD2F.15 Orphanet 648 TPD-7GD1BV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7GD1BV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7GD1BV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7GD1BV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7GD1BV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7GD1BV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7GD1BV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7GD1BV Craniopharyngioma 2F9A Orphanet 54595 TPD-7GD1BV Cushing disease 5A70.0 Orphanet 96253 TPD-7GEHQK Kennedy disease 8B61.4 Orphanet 481 TPD-7GEHQK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7GEHQK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7GEHQK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7GJ4M6 Kennedy disease 8B61.4 Orphanet 481 TPD-7GJ4M6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7GJ4M6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7GJ4M6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7GKJDD Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-7GNN2P Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-7GUFBC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7GV0W6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7GV0W6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7GV0W6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7GV0W6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7GV28V Noonan syndrome LD2F.15 Orphanet 648 TPD-7GV28V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7GV28V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7GV28V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7GV28V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7GV28V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7GV28V Lynch syndrome 2B90.Y Orphanet 144 TPD-7GV28V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7GV28V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7GVA2K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7GVA2K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7GVA2K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7GVA2K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7GVA2K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7GVA2K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7GVA2K Semantic dementia 6D83 Orphanet 100069 TPD-7GVA2K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7GVDAN Noonan syndrome LD2F.15 Orphanet 648 TPD-7GVDAN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7GVDAN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7GVDAN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7GVDAN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7GVDAN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7GVDAN Lynch syndrome 2B90.Y Orphanet 144 TPD-7GVDAN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7GVDAN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7GVWBS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7GVWBS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7GVWBS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7GVWBS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7GXYK7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7GXYK7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7GYHH6 Kennedy disease 8B61.4 Orphanet 481 TPD-7GYHH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7GYHH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7GYHH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7GZPI2 Noonan syndrome LD2F.15 Orphanet 648 TPD-7GZPI2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7GZPI2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7GZPI2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7GZPI2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7GZPI2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7GZPI2 Lynch syndrome 2B90.Y Orphanet 144 TPD-7GZPI2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7GZPI2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7H344A Noonan syndrome LD2F.15 Orphanet 648 TPD-7H344A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7H344A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7H344A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7H344A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7H344A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7H344A Lynch syndrome 2B90.Y Orphanet 144 TPD-7H344A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7H344A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7H5YYV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7H5YYV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7H7HCO Kennedy disease 8B61.4 Orphanet 481 TPD-7H7HCO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7H7HCO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7H7HCO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7H9K43 Kennedy disease 8B61.4 Orphanet 481 TPD-7H9K43 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7H9K43 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7H9K43 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7HCT6Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7HDOL3 Kennedy disease 8B61.4 Orphanet 481 TPD-7HDOL3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7HDOL3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7HDOL3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7HG82U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7HG82U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7HG82U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7HHUFV Noonan syndrome LD2F.15 Orphanet 648 TPD-7HHUFV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7HHUFV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7HHUFV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7HHUFV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7HHUFV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7HHUFV Lynch syndrome 2B90.Y Orphanet 144 TPD-7HHUFV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7HHUFV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7HJ75S Noonan syndrome LD2F.15 Orphanet 648 TPD-7HJ75S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7HJ75S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7HJ75S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7HJ75S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7HJ75S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7HJ75S Lynch syndrome 2B90.Y Orphanet 144 TPD-7HJ75S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7HJ75S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7HM2KM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7HMJ7G Noonan syndrome LD2F.15 Orphanet 648 TPD-7HMJ7G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7HMJ7G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7HMJ7G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7HMJ7G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7HMJ7G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7HMJ7G Lynch syndrome 2B90.Y Orphanet 144 TPD-7HMJ7G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7HMJ7G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7HN6EK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7HN6EK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7HN6EK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7HPVGA Kennedy disease 8B61.4 Orphanet 481 TPD-7HPVGA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7HPVGA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7HPVGA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7HQCRM Noonan syndrome LD2F.15 Orphanet 648 TPD-7HQCRM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-7HQPT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-7HQPT2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7HQPT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7HQPT2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7HQPT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7HQPT2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7HQPT2 Lynch syndrome 2B90.Y Orphanet 144 TPD-7HQPT2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7HQPT2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7HRTKY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7HRTKY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7HRTKY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7HTRDV Familial melanoma QC61.Y Orphanet 618 TPD-7HTRDV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7HUTCH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7HUXTU Noonan syndrome LD2F.15 Orphanet 648 TPD-7HUXTU Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-7HVXML Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7I0ZDB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-7I0ZDB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-7I0ZDB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-7I0ZDB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-7I0ZDB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-7I0ZDB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-7I0ZDB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7I0ZDB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-7I0ZDB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7I4BVR Noonan syndrome LD2F.15 Orphanet 648 TPD-7I4BVR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7I4BVR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7I4BVR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7I4BVR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7I4BVR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7I4BVR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7I4BVR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7I4BVR Craniopharyngioma 2F9A Orphanet 54595 TPD-7I4BVR Cushing disease 5A70.0 Orphanet 96253 TPD-7I684R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7I684R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7I684R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7I684R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7I6WCY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7IDODH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7IE1K5 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-7IE1K5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7IE1K5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7IHGQ8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7IHGQ8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7IHGQ8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7IHN3X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7IHN3X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7IHN3X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7IIJ9L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7IIJ9L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7IIJ9L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7IIJ9L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7IIQAU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7IIQAU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7IKKUW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7IKKUW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7IKKUW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7IKKUW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7IKKUW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7IKKUW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7IKKUW Semantic dementia 6D83 Orphanet 100069 TPD-7IKKUW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7IS8IH Familial melanoma QC61.Y Orphanet 618 TPD-7IS8IH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7IT5I5 Familial melanoma QC61.Y Orphanet 618 TPD-7IT5I5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7ITD39 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-7IV98Z Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7IVH11 Kennedy disease 8B61.4 Orphanet 481 TPD-7IVH11 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7IVH11 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7IVH11 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7J120Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7J120Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7J120Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7J120Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7J392T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7J392T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7J59RC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7J59RC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7J59RC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7J8VOF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7JD20W Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-7JEKZP Noonan syndrome LD2F.15 Orphanet 648 TPD-7JEKZP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7JEKZP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7JEKZP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7JEKZP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7JEKZP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7JEKZP Lynch syndrome 2B90.Y Orphanet 144 TPD-7JEKZP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7JEKZP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7JIS22 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7JIS22 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7JJUGI Kennedy disease 8B61.4 Orphanet 481 TPD-7JJUGI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7JJUGI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7JJUGI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7JM0BN Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-7JM0BN MODY 5A13.6 Orphanet 552 TPD-7JM3MK Noonan syndrome LD2F.15 Orphanet 648 TPD-7JM3MK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7JM3MK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7JM3MK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7JM3MK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7JM3MK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7JM3MK Lynch syndrome 2B90.Y Orphanet 144 TPD-7JM3MK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7JM3MK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7JNQYW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7JQR8U Noonan syndrome LD2F.15 Orphanet 648 TPD-7JQR8U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7JQR8U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7JQR8U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7JQR8U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7JQR8U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7JQR8U Lynch syndrome 2B90.Y Orphanet 144 TPD-7JQR8U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7JQR8U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7JQUUB Kennedy disease 8B61.4 Orphanet 481 TPD-7JQUUB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7JQUUB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7JQUUB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7K3Q6U Kennedy disease 8B61.4 Orphanet 481 TPD-7K3Q6U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7K3Q6U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7K3Q6U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7K446N CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7K4NCB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7K4NCB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7K4NCB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7K4NCB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7K4NCB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7K4NCB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7K4NCB Semantic dementia 6D83 Orphanet 100069 TPD-7K4NCB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7K6PGE Kennedy disease 8B61.4 Orphanet 481 TPD-7K6PGE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7K6PGE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7K6PGE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7K8VFN Achondroplasia LD24.00 Orphanet 15 TPD-7K8VFN Hypochondroplasia LD24.01 Orphanet 429 TPD-7K8VFN Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-7K8VFN Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-7K8VFN Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-7K8VFN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7K8VFN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 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Orphanet 3339 TPD-7KVSRM Lynch syndrome 2B90.Y Orphanet 144 TPD-7KVSRM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7KVSRM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7KXNSY Noonan syndrome LD2F.15 Orphanet 648 TPD-7KXNSY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7KXNSY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7KXNSY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7KXNSY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7KXNSY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7KXNSY Lynch syndrome 2B90.Y Orphanet 144 TPD-7KXNSY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7KXNSY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7KZ6LE Noonan syndrome LD2F.15 Orphanet 648 TPD-7KZ6LE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7KZ6LE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7KZ6LE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7KZ6LE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7KZ6LE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7KZ6LE Lynch syndrome 2B90.Y Orphanet 144 TPD-7KZ6LE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7KZ6LE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7L0MBM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7L0MBM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7L5FKS Familial melanoma QC61.Y Orphanet 618 TPD-7L5FKS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7L9ASJ Familial melanoma QC61.Y Orphanet 618 TPD-7L9ASJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7L9OUX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7L9OUX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7L9OUX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7L9OUX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7LA90M Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7LA90M Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7LAIPP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7LE55C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7LE55C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7LE55C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7LF4NG Kennedy disease 8B61.4 Orphanet 481 TPD-7LF4NG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LF4NG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LF4NG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LFATY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-7LMVL2 Kennedy disease 8B61.4 Orphanet 481 TPD-7LMVL2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LMVL2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LMVL2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LN9NN Kennedy disease 8B61.4 Orphanet 481 TPD-7LN9NN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LN9NN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LN9NN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LNS29 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7LOV3I Kennedy disease 8B61.4 Orphanet 481 TPD-7LOV3I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LOV3I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LOV3I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LRQDG Noonan syndrome LD2F.15 Orphanet 648 TPD-7LRQDG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7LRQDG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7LRQDG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7LRQDG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7LRQDG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7LRQDG Lynch syndrome 2B90.Y Orphanet 144 TPD-7LRQDG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7LRQDG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7LSTHX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7LSTHX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7LUKTK Kennedy disease 8B61.4 Orphanet 481 TPD-7LUKTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LUKTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LUKTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LUWTX Noonan syndrome LD2F.15 Orphanet 648 TPD-7LUWTX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7LUWTX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7LUWTX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7LUWTX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7LUWTX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7LUWTX Lynch syndrome 2B90.Y Orphanet 144 TPD-7LUWTX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7LUWTX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7LV4R0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7LV4R0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7LWAUS Kennedy disease 8B61.4 Orphanet 481 TPD-7LWAUS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7LWAUS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7LWAUS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7LZBDK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7LZBDK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7LZBDK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7LZBDK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7LZBDK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7LZBDK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7LZBDK Semantic dementia 6D83 Orphanet 100069 TPD-7LZBDK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7M05HA Kennedy disease 8B61.4 Orphanet 481 TPD-7M05HA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7M05HA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7M05HA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7M1E5E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7M1E5E Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7M1E5E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7M1JSX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7M1JSX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7M1JSX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7M5FJB Kennedy disease 8B61.4 Orphanet 481 TPD-7M5FJB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7M5FJB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7M5FJB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7MAH7K Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7MB3BB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7MB3BB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7MCX85 Familial melanoma QC61.Y Orphanet 618 TPD-7MCX85 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7ME8SR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7MKTKO Weaver syndrome LD2C Orphanet 3447 TPD-7MY1FV Noonan syndrome LD2F.15 Orphanet 648 TPD-7MY1FV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7MY1FV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7MY1FV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7MY1FV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7MY1FV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7MY1FV Lynch syndrome 2B90.Y Orphanet 144 TPD-7MY1FV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7MY1FV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7MZA9N CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7MZG9H Kennedy disease 8B61.4 Orphanet 481 TPD-7MZG9H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7MZG9H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7MZG9H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7MZKCA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7N1025 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7N1025 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7N1025 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7N1025 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7N81FJ Kennedy disease 8B61.4 Orphanet 481 TPD-7N81FJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7N81FJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7N81FJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7N9OT7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7NFSSH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7NK6IX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7NP30W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7NRVR9 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-7NRVR9 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-7NRVR9 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-7NRVR9 Polycythemia vera 2A20.4 Orphanet 729 TPD-7NRVR9 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-7NRVR9 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-7NRVR9 T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-7NWFM5 Kennedy disease 8B61.4 Orphanet 481 TPD-7NWFM5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7NWFM5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7NWFM5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7NWKDG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7NWKDG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7O5D0O Kennedy disease 8B61.4 Orphanet 481 TPD-7O5D0O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7O5D0O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7O5D0O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7O6232 Noonan syndrome LD2F.15 Orphanet 648 TPD-7O6232 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7O6232 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7O6232 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7O6232 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7O6232 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7O6232 Lynch syndrome 2B90.Y Orphanet 144 TPD-7O6232 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7O6232 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7O8YLG Noonan syndrome LD2F.15 Orphanet 648 TPD-7O8YLG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7O8YLG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7O8YLG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7O8YLG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7O8YLG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7O8YLG Lynch syndrome 2B90.Y Orphanet 144 TPD-7O8YLG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7O8YLG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7OAIZ3 Kennedy disease 8B61.4 Orphanet 481 TPD-7OAIZ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7OAIZ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7OAIZ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7OCYSG Familial melanoma QC61.Y Orphanet 618 TPD-7OCYSG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7OD9C7 Kennedy disease 8B61.4 Orphanet 481 TPD-7OD9C7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7OD9C7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7OD9C7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ODWH2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7ODWH2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7ODWH2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7OE2OQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7OE2OQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7OE2QF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7OE2QF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7OE2QF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7OF9OP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7OIEO1 Kennedy disease 8B61.4 Orphanet 481 TPD-7OIEO1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7OIEO1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7OIEO1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7OIFHG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7OIGGO Kennedy disease 8B61.4 Orphanet 481 TPD-7OIGGO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7OIGGO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7OIGGO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7OIN4S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7OIN4S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7OIN4S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7OIN4S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7OMC9Q Kennedy disease 8B61.4 Orphanet 481 TPD-7OMC9Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7OMC9Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7OMC9Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7OOYXU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7OP69O Familial melanoma QC61.Y Orphanet 618 TPD-7OQ2DV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7OQ2DV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7OQ2DV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7OQ2DV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7P09SP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7P09SP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7P09SP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7P09SP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7P2GTB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7P2GTB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7P2GTB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7P2GTB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7P3JJS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7P3JJS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7P3JJS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7P48SB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7P5SKL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7P5SKL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7P5SKL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7P5SKL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7P90ER Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7PAI7H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7PAI7H Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7PC89W Kennedy disease 8B61.4 Orphanet 481 TPD-7PC89W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7PC89W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7PC89W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7PCND3 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-7PD554 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7PFNFT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7PFNFT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7PFNFT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7PGBI4 Kennedy disease 8B61.4 Orphanet 481 TPD-7PGBI4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7PGBI4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7PGBI4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7PJ3DN Kennedy disease 8B61.4 Orphanet 481 TPD-7PJ3DN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7PJ3DN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7PJ3DN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7PJMVV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7PJMVV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7PJMVV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7PL83Y Weaver syndrome LD2C Orphanet 3447 TPD-7POHLJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7POHLJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7POHLJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7POHLJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7PTAFL Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-7PTAFL Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-7PTAFL Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-7PU7GS Noonan syndrome LD2F.15 Orphanet 648 TPD-7PU7GS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7PU7GS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7PU7GS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7PU7GS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7PU7GS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7PU7GS Lynch syndrome 2B90.Y Orphanet 144 TPD-7PU7GS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7PU7GS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7PUSJ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-7PUSJ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7PUSJ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7PUSJ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7PUSJ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7PUSJ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7PUSJ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-7PUSJ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7PUSJ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7PUXQA Kennedy disease 8B61.4 Orphanet 481 TPD-7PUXQA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7PUXQA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7PUXQA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7PXBE5 Kennedy disease 8B61.4 Orphanet 481 TPD-7PXBE5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7PXBE5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7PXBE5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7Q31HY Noonan syndrome LD2F.15 Orphanet 648 TPD-7Q31HY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7Q31HY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7Q31HY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7Q31HY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7Q31HY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7Q31HY Lynch syndrome 2B90.Y Orphanet 144 TPD-7Q31HY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7Q31HY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7Q5TYN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7Q630G Kennedy disease 8B61.4 Orphanet 481 TPD-7Q630G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7Q630G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7Q630G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7Q7847 Kennedy disease 8B61.4 Orphanet 481 TPD-7Q7847 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7Q7847 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7Q7847 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7Q9RYQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7Q9V8O Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-7Q9V8O Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-7Q9V8O Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-7Q9V8O Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-7Q9V8O Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-7Q9V8O Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-7Q9V8O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7Q9V8O Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-7Q9V8O Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7QH9YT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7QH9YT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7QH9YT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7QHY0Y Noonan syndrome LD2F.15 Orphanet 648 TPD-7QHY0Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7QHY0Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7QHY0Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7QHY0Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7QHY0Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7QHY0Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7QHY0Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7QHY0Y Craniopharyngioma 2F9A Orphanet 54595 TPD-7QHY0Y Cushing disease 5A70.0 Orphanet 96253 TPD-7QI4BY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7QJ373 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7QJ373 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7QJXCZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7QNUUW Kennedy disease 8B61.4 Orphanet 481 TPD-7QNUUW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7QNUUW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7QNUUW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7QO0BW Noonan syndrome LD2F.15 Orphanet 648 TPD-7QO0BW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7QO0BW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7QO0BW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7QO0BW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7QO0BW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7QO0BW Lynch syndrome 2B90.Y Orphanet 144 TPD-7QO0BW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7QO0BW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7QOWEZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7QOWEZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7QPBZ1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7QPC9C Kennedy disease 8B61.4 Orphanet 481 TPD-7QPC9C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7QPC9C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7QPC9C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7QS1EZ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-7QT4OK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7QT4OK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7QT4OK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7QU5X3 Kennedy disease 8B61.4 Orphanet 481 TPD-7QU5X3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7QU5X3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7QU5X3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7QUAN1 Familial melanoma QC61.Y Orphanet 618 TPD-7QUAN1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7QUTKX Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7R356Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7R4MV6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7R4MV6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7R6JNN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7RD7WC Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-7REL3O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7REL3O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7RHVGK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7RI6OZ Kennedy disease 8B61.4 Orphanet 481 TPD-7RI6OZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7RI6OZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7RI6OZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7RIW5U Noonan syndrome LD2F.15 Orphanet 648 TPD-7RIW5U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7RIW5U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7RIW5U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7RIW5U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7RIW5U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7RIW5U Lynch syndrome 2B90.Y Orphanet 144 TPD-7RIW5U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7RIW5U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7RK4T1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7RKOYK Kennedy disease 8B61.4 Orphanet 481 TPD-7RKOYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7RKOYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7RKOYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7RLEZE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7RLEZE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7RLEZE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7RLEZE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7ROZQ4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7RQ6LB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7RQOTO Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7RQOTO Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7RQOTO Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7RQOTO Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7RQOTO Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7RQOTO Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7RQOTO Semantic dementia 6D83 Orphanet 100069 TPD-7RQOTO Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7RRPNM Kennedy disease 8B61.4 Orphanet 481 TPD-7RRPNM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7RRPNM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7RRPNM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7RRT82 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7RRT82 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7RRT82 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7RSIMZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7RSIMZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7RSIMZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7RSIMZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7RSIMZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7RSIMZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7RSIMZ Semantic dementia 6D83 Orphanet 100069 TPD-7RSIMZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7RTZ7Q Kennedy disease 8B61.4 Orphanet 481 TPD-7RTZ7Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7RTZ7Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7RTZ7Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7S4T7M Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7SBHSW Noonan syndrome LD2F.15 Orphanet 648 TPD-7SBHSW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7SBHSW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7SBHSW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7SBHSW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7SBHSW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7SBHSW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7SBHSW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7SBHSW Craniopharyngioma 2F9A Orphanet 54595 TPD-7SBHSW Cushing disease 5A70.0 Orphanet 96253 TPD-7SHZDG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7SHZDG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7SHZDG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7SIDM2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7SIMSW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7SIMSW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7SMKTG Burkitt lymphoma XH4KA9 Orphanet 543 TPD-7SMKTG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-7SN0DF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7SNPVV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7SOZPV Familial melanoma QC61.Y Orphanet 618 TPD-7SOZPV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7SQEQE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7SQEQE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7SQEQE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7SQEQE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7SR6AF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7SR6AF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7SRF41 Kennedy disease 8B61.4 Orphanet 481 TPD-7SRF41 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7SRF41 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7SRF41 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7SS152 Kennedy disease 8B61.4 Orphanet 481 TPD-7SS152 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7SS152 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7SS152 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7SXZW9 Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-7SZJ5V Familial melanoma QC61.Y Orphanet 618 TPD-7SZJ5V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7T100N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7T100N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7T100N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7T100N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7T140J Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7T140J Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-7T15WK Kennedy disease 8B61.4 Orphanet 481 TPD-7T15WK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7T15WK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7T15WK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7T4D3Y CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7T4D6N Noonan syndrome LD2F.15 Orphanet 648 TPD-7T4D6N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7T4D6N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7T4D6N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7T4D6N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7T4D6N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7T4D6N Lynch syndrome 2B90.Y Orphanet 144 TPD-7T4D6N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7T4D6N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7T5AFD Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7TB7IH Kennedy disease 8B61.4 Orphanet 481 TPD-7TB7IH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7TB7IH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7TB7IH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7TF297 Noonan syndrome LD2F.15 Orphanet 648 TPD-7TF297 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7TF297 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7TF297 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7TF297 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7TF297 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7TF297 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7TF297 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7TF297 Craniopharyngioma 2F9A Orphanet 54595 TPD-7TF297 Cushing disease 5A70.0 Orphanet 96253 TPD-7THDRY Kennedy disease 8B61.4 Orphanet 481 TPD-7THDRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7THDRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7THDRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7TIV4S Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7TO1HV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7TO1HV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7TO1HV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7TOBRE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7TPJJR Kennedy disease 8B61.4 Orphanet 481 TPD-7TPJJR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7TPJJR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7TPJJR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7TR5DE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7TR5DE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7TR5DE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7TR5DE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7TSALJ Noonan syndrome LD2F.15 Orphanet 648 TPD-7TSALJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7TSALJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7TSALJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7TSALJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7TSALJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7TSALJ Lynch syndrome 2B90.Y Orphanet 144 TPD-7TSALJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7TSALJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7TT55R Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-7TT55R Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-7TT55R Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-7TT5TN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7TY709 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7TY709 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7TY709 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7TYBO3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7U6A42 Noonan syndrome LD2F.15 Orphanet 648 TPD-7U6A42 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7U6A42 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7U6A42 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7U6A42 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7U6A42 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7U6A42 Lynch syndrome 2B90.Y Orphanet 144 TPD-7U6A42 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7U6A42 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7UAL61 Noonan syndrome LD2F.15 Orphanet 648 TPD-7UAL61 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7UAL61 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7UAL61 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7UAL61 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7UAL61 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7UAL61 Lynch syndrome 2B90.Y Orphanet 144 TPD-7UAL61 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7UAL61 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7UB3BY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7UC2O2 Noonan syndrome LD2F.15 Orphanet 648 TPD-7UC2O2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7UC2O2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7UC2O2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7UC2O2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7UC2O2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7UC2O2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7UC2O2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7UC2O2 Craniopharyngioma 2F9A Orphanet 54595 TPD-7UC2O2 Cushing disease 5A70.0 Orphanet 96253 TPD-7UJHZ4 Kennedy disease 8B61.4 Orphanet 481 TPD-7UJHZ4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7UJHZ4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7UJHZ4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7UJWXM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7UN64Z Kennedy disease 8B61.4 Orphanet 481 TPD-7UN64Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7UN64Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7UN64Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7UNQM9 Kennedy disease 8B61.4 Orphanet 481 TPD-7UNQM9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7UNQM9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7UNQM9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7UOXYH Kennedy disease 8B61.4 Orphanet 481 TPD-7UOXYH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7UOXYH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7UOXYH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7UQ11P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7UQ11P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7UQ11P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7UQSZV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7US3HP Kennedy disease 8B61.4 Orphanet 481 TPD-7US3HP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7US3HP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7US3HP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7US5T7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7US5T7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7UYSYF Kennedy disease 8B61.4 Orphanet 481 TPD-7UYSYF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7UYSYF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7UYSYF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7V0U13 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7V0U13 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7V0U13 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7V29I5 Noonan syndrome LD2F.15 Orphanet 648 TPD-7V29I5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7V29I5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7V29I5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7V29I5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7V29I5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7V29I5 Lynch syndrome 2B90.Y Orphanet 144 TPD-7V29I5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7V29I5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7V3G85 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7V3G85 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7V5LV7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7V5LV7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7VDXJG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7VDXJG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-7VHPGA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7VHRCE Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-7VHRCE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7VHRCE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7VHRCE Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-7VHRCE Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-7VHRCE Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-7VHRCE Osteosarcoma 2B51 Orphanet 668 TPD-7VHRCE Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-7VHRCE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7VHRCE Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-7VHRCE Small cell lung cancer 2C25.1 Orphanet 70573 TPD-7VHRCE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7VHRCE Cushing disease 5A70.0 Orphanet 96253 TPD-7VHRCE Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-7VHRCE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7VLO3Z Cystic fibrosis CA25 Orphanet 586 TPD-7VLO3Z Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-7VRDJG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7VRDJG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7VTX2H Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7VTX2H Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7VTX2H Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7VY5GZ Noonan syndrome LD2F.15 Orphanet 648 TPD-7VY5GZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7VY5GZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7VY5GZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7VY5GZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7VY5GZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7VY5GZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7VY5GZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7VY5GZ Craniopharyngioma 2F9A Orphanet 54595 TPD-7VY5GZ Cushing disease 5A70.0 Orphanet 96253 TPD-7W6DHJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7W6DHJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7W6DHJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7W6DHJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7W6DHJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7W6DHJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7W6DHJ Semantic dementia 6D83 Orphanet 100069 TPD-7W6DHJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7W9DEN Noonan syndrome LD2F.15 Orphanet 648 TPD-7W9DEN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-7W9DEN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7W9DEN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7W9DEN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7W9DEN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-7W9DEN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-7W9DEN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-7W9DEN Craniopharyngioma 2F9A Orphanet 54595 TPD-7W9DEN Cushing disease 5A70.0 Orphanet 96253 TPD-7WAQTV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-7WDZ01 Kennedy disease 8B61.4 Orphanet 481 TPD-7WDZ01 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7WDZ01 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7WDZ01 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7WEF5B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7WGFXE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7WGFXE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7WGFXE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7WGMA6 Kennedy disease 8B61.4 Orphanet 481 TPD-7WGMA6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7WGMA6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7WGMA6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7WPKJK Kennedy disease 8B61.4 Orphanet 481 TPD-7WPKJK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7WPKJK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7WPKJK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7WPX0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-7WPX0Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7WPX0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7WPX0Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7WPX0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7WPX0Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7WPX0Z Lynch syndrome 2B90.Y Orphanet 144 TPD-7WPX0Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7WPX0Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7WREQP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7WREQP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-7WTUHP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7WTUHP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7WTUHP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7WU90F Kennedy disease 8B61.4 Orphanet 481 TPD-7WU90F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7WU90F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7WU90F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7WURW6 Kennedy disease 8B61.4 Orphanet 481 TPD-7WURW6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7WURW6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7WURW6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7WVWFT Noonan syndrome LD2F.15 Orphanet 648 TPD-7WVWFT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-7WVWFT Metachondromatosis LD24.2Y Orphanet 2499 TPD-7WVWFT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7WWLXW Noonan syndrome LD2F.15 Orphanet 648 TPD-7WWLXW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7WWLXW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7WWLXW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7WWLXW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7WWLXW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7WWLXW Lynch syndrome 2B90.Y Orphanet 144 TPD-7WWLXW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7WWLXW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7WZJWN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7WZJWN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7X1GRV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7X39IP Kennedy disease 8B61.4 Orphanet 481 TPD-7X39IP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7X39IP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7X39IP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7X4C86 Noonan syndrome LD2F.15 Orphanet 648 TPD-7X4C86 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7X4C86 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7X4C86 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7X4C86 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7X4C86 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7X4C86 Lynch syndrome 2B90.Y Orphanet 144 TPD-7X4C86 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7X4C86 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7X4ZED Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7X4ZED Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7X4ZED Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7X6L9U Noonan syndrome LD2F.15 Orphanet 648 TPD-7X6L9U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7X6L9U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7X6L9U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7X6L9U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7X6L9U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7X6L9U Lynch syndrome 2B90.Y Orphanet 144 TPD-7X6L9U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7X6L9U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7X6TYO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7X796K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7X978W Kennedy disease 8B61.4 Orphanet 481 TPD-7X978W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7X978W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7X978W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7XBSJQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7XBSJQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7XDBWE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7XE4D9 Noonan syndrome LD2F.15 Orphanet 648 TPD-7XE4D9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7XE4D9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7XE4D9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7XE4D9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7XE4D9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7XE4D9 Lynch syndrome 2B90.Y Orphanet 144 TPD-7XE4D9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7XE4D9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7XF45R Noonan syndrome LD2F.15 Orphanet 648 TPD-7XF45R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7XF45R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7XF45R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7XF45R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7XF45R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7XF45R Lynch syndrome 2B90.Y Orphanet 144 TPD-7XF45R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7XF45R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7XFJ90 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-7XFJ90 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-7XFJ90 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-7XFJ90 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-7XFJ90 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-7XFJ90 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-7XFJ90 Semantic dementia 6D83 Orphanet 100069 TPD-7XFJ90 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-7XGCJQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7XGCJQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7XGCJQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7XGCJQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7XITP5 Familial melanoma QC61.Y Orphanet 618 TPD-7XITP5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7XL0XA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-7XNTLF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7XNTLF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7XNTLF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7XR2BV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7XR2BV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7XR2BV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7XSQT7 Noonan syndrome LD2F.15 Orphanet 648 TPD-7XSQT7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7XSQT7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7XSQT7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7XSQT7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7XSQT7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7XSQT7 Lynch syndrome 2B90.Y Orphanet 144 TPD-7XSQT7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7XSQT7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7XUDOW Kennedy disease 8B61.4 Orphanet 481 TPD-7XUDOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7XUDOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7XUDOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7XWTCL Kennedy disease 8B61.4 Orphanet 481 TPD-7XWTCL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7XWTCL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7XWTCL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7Y1SXL Noonan syndrome LD2F.15 Orphanet 648 TPD-7Y1SXL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7Y1SXL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7Y1SXL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7Y1SXL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7Y1SXL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7Y1SXL Lynch syndrome 2B90.Y Orphanet 144 TPD-7Y1SXL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7Y1SXL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7Y3KZ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7Y3KZ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7Y3KZ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7Y7750 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7Y7750 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7Y7AGR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7Y7FK9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7Y7FK9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-7Y7GCL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-7YBUOP Noonan syndrome LD2F.15 Orphanet 648 TPD-7YBUOP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7YBUOP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7YBUOP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7YBUOP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7YBUOP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7YBUOP Lynch syndrome 2B90.Y Orphanet 144 TPD-7YBUOP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7YBUOP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7YDENL Kennedy disease 8B61.4 Orphanet 481 TPD-7YDENL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7YDENL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7YDENL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7YGFZT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7YGFZT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7YGFZT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7YJQT6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7YJQT6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7YJQT6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7YMXZU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-7YMXZU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-7YMXZU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-7YN10F Noonan syndrome LD2F.15 Orphanet 648 TPD-7YN10F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7YN10F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7YN10F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7YN10F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7YN10F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7YN10F Lynch syndrome 2B90.Y Orphanet 144 TPD-7YN10F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7YN10F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7YPHJ7 Kennedy disease 8B61.4 Orphanet 481 TPD-7YPHJ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7YPHJ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7YPHJ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7YRZY6 Noonan syndrome LD2F.15 Orphanet 648 TPD-7YRZY6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-7YS79A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7YS79A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7YTJVW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-7YV92H Noonan syndrome LD2F.15 Orphanet 648 TPD-7YV92H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7YV92H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7YV92H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7YV92H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7YV92H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7YV92H Lynch syndrome 2B90.Y Orphanet 144 TPD-7YV92H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7YV92H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7YWMB8 Kennedy disease 8B61.4 Orphanet 481 TPD-7YWMB8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7YWMB8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7YWMB8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7YX3P6 Kennedy disease 8B61.4 Orphanet 481 TPD-7YX3P6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7YX3P6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7YX3P6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7YYEXI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7YYEXI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7YYEXI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7Z20HT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-7Z20HT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-7Z20HT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-7Z2OT4 Familial melanoma QC61.Y Orphanet 618 TPD-7Z2OT4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7ZAFBK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-7ZBP2N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7ZBP2N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7ZBP2N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7ZBP2N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-7ZEH5L Kennedy disease 8B61.4 Orphanet 481 TPD-7ZEH5L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7ZEH5L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7ZEH5L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ZHOU5 Noonan syndrome LD2F.15 Orphanet 648 TPD-7ZHOU5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-7ZHOU5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-7ZHOU5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-7ZHOU5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-7ZHOU5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-7ZHOU5 Lynch syndrome 2B90.Y Orphanet 144 TPD-7ZHOU5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-7ZHOU5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-7ZNX9J Kennedy disease 8B61.4 Orphanet 481 TPD-7ZNX9J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7ZNX9J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7ZNX9J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ZP27A Kennedy disease 8B61.4 Orphanet 481 TPD-7ZP27A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-7ZP27A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-7ZP27A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-7ZQZC3 Familial melanoma QC61.Y Orphanet 618 TPD-7ZQZC3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-7ZR8PO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-7ZR8PO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-7ZRCH9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-7ZSAJU Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-7ZSAJU Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-7ZSAJU Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-7ZSAJU Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-7ZSAJU Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-7ZZZO1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-7ZZZO1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-7ZZZO1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-7ZZZO1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-800IXZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-802RZ7 Familial melanoma QC61.Y Orphanet 618 TPD-802RZ7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-807PO7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-808VR7 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-80AWPB Kennedy disease 8B61.4 Orphanet 481 TPD-80AWPB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-80AWPB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-80AWPB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-80D3QL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-80DMOV Kennedy disease 8B61.4 Orphanet 481 TPD-80DMOV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-80DMOV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-80DMOV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-80F07Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-80F07Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-80FY3E Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-80H0UQ Kennedy disease 8B61.4 Orphanet 481 TPD-80H0UQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-80H0UQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-80H0UQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-80LT5E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-80O7RH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-80P4XB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-80P4XB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-80P4XB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-80P4XB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-80P4XB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-80P4XB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-80P4XB Semantic dementia 6D83 Orphanet 100069 TPD-80P4XB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-80PD6W Kennedy disease 8B61.4 Orphanet 481 TPD-80PD6W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-80PD6W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-80PD6W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-80TC9C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-80TC9C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-80TC9C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-80TC9C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-80WD0H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-80WD0H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-80WD0H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-80WD0H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-80X2Y9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-80X2Y9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-80X2Y9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-80YIXN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-80YIXN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-80YIXN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-811TLH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-81216S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-812J6O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-813U34 Noonan syndrome LD2F.15 Orphanet 648 TPD-813U34 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-813U34 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-813U34 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-813U34 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-813U34 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-813U34 Lynch syndrome 2B90.Y Orphanet 144 TPD-813U34 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-813U34 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-813Y0B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-813Y0B Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-813Y0B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-814GCQ Kennedy disease 8B61.4 Orphanet 481 TPD-814GCQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-814GCQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-814GCQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-817XLH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8182NZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8182NZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-819E8O Noonan syndrome LD2F.15 Orphanet 648 TPD-819E8O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-819E8O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-819E8O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-819E8O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-819E8O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-819E8O Lynch syndrome 2B90.Y Orphanet 144 TPD-819E8O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-819E8O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-81AXV0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-81DMFP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-81DMFP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-81DMFP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-81DW06 Noonan syndrome LD2F.15 Orphanet 648 TPD-81DW06 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-81DW06 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-81DW06 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-81DW06 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-81DW06 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-81DW06 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-81DW06 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-81DW06 Craniopharyngioma 2F9A Orphanet 54595 TPD-81DW06 Cushing disease 5A70.0 Orphanet 96253 TPD-81JLEL Kennedy disease 8B61.4 Orphanet 481 TPD-81JLEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-81JLEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-81JLEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-81NW2Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-81NW2Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-81OKBA Kennedy disease 8B61.4 Orphanet 481 TPD-81OKBA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-81OKBA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-81OKBA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8237LF Kennedy disease 8B61.4 Orphanet 481 TPD-8237LF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8237LF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8237LF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8237O2 Noonan syndrome LD2F.15 Orphanet 648 TPD-8237O2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8237O2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8237O2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8237O2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8237O2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8237O2 Lynch syndrome 2B90.Y Orphanet 144 TPD-8237O2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8237O2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-824TTA Kennedy disease 8B61.4 Orphanet 481 TPD-824TTA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-824TTA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-824TTA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-827N03 Noonan syndrome LD2F.15 Orphanet 648 TPD-827N03 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-827N03 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-827N03 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-827N03 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-827N03 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-827N03 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-827N03 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-827N03 Craniopharyngioma 2F9A Orphanet 54595 TPD-827N03 Cushing disease 5A70.0 Orphanet 96253 TPD-828122 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-829TAE Familial melanoma QC61.Y Orphanet 618 TPD-829TAE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-82B28C Noonan syndrome LD2F.15 Orphanet 648 TPD-82B28C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-82B28C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-82B28C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-82B28C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-82B28C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-82B28C Lynch syndrome 2B90.Y Orphanet 144 TPD-82B28C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-82B28C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-82EN1H Noonan syndrome LD2F.15 Orphanet 648 TPD-82EN1H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-82EN1H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-82EN1H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-82EN1H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-82EN1H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-82EN1H Lynch syndrome 2B90.Y Orphanet 144 TPD-82EN1H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-82EN1H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-82GKD8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-82GKD8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-82GKD8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-82GKD8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-82IYNT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-82IYNT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-82IYNT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-82K2H0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-82K2H0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-82K2H0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-82K2H0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-82KK3X Kennedy disease 8B61.4 Orphanet 481 TPD-82KK3X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-82KK3X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-82KK3X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-82L0V4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-82L0V4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-82MW9L Kennedy disease 8B61.4 Orphanet 481 TPD-82MW9L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-82MW9L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-82MW9L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-82RXOQ Kennedy disease 8B61.4 Orphanet 481 TPD-82RXOQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-82RXOQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-82RXOQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-82TSZH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-82TSZH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-82V8MJ Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-82V8MJ Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-82V8MJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-82V8MJ Distal myopathy, Welander type 8C75 Orphanet 603 TPD-82YDI9 Noonan syndrome LD2F.15 Orphanet 648 TPD-82YDI9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-82YDI9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-82YDI9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-82YDI9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-82YDI9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-82YDI9 Lynch syndrome 2B90.Y Orphanet 144 TPD-82YDI9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-82YDI9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-82YNID Noonan syndrome LD2F.15 Orphanet 648 TPD-82YNID Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-82YNID Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-82YNID Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-82YNID Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-82YNID Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-82YNID Lynch syndrome 2B90.Y Orphanet 144 TPD-82YNID Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-82YNID Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-82ZJ8M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-82ZJ8M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-82ZJ8M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-836LHW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-836LHW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-836LTU Noonan syndrome LD2F.15 Orphanet 648 TPD-836LTU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-836LTU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-836LTU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-836LTU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-836LTU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-836LTU Lynch syndrome 2B90.Y Orphanet 144 TPD-836LTU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-836LTU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-839SBI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-839SBI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-839SBI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-839SBI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-839SBI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-839SBI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-839SBI Semantic dementia 6D83 Orphanet 100069 TPD-839SBI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-83B8MM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-83DFE5 Kennedy disease 8B61.4 Orphanet 481 TPD-83DFE5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-83DFE5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-83DFE5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-83HF23 Noonan syndrome LD2F.15 Orphanet 648 TPD-83HF23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-83HF23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-83HF23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-83HF23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-83HF23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-83HF23 Lynch syndrome 2B90.Y Orphanet 144 TPD-83HF23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-83HF23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-83I8O7 Noonan syndrome LD2F.15 Orphanet 648 TPD-83I8O7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-83I8O7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-83I8O7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-83I8O7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-83I8O7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-83I8O7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-83I8O7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-83I8O7 Craniopharyngioma 2F9A Orphanet 54595 TPD-83I8O7 Cushing disease 5A70.0 Orphanet 96253 TPD-83I8O7 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-83IYJW Noonan syndrome LD2F.15 Orphanet 648 TPD-83IYJW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-83IYJW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-83IYJW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-83IYJW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-83IYJW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-83IYJW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-83IYJW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-83IYJW Craniopharyngioma 2F9A Orphanet 54595 TPD-83IYJW Cushing disease 5A70.0 Orphanet 96253 TPD-83LYO1 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-83LYO1 CINCA syndrome 4A60.1 Orphanet 1451 TPD-83LYO1 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-83MOGA Noonan syndrome LD2F.15 Orphanet 648 TPD-83MOGA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-83MOGA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-83MOGA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-83MOGA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-83MOGA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-83MOGA Lynch syndrome 2B90.Y Orphanet 144 TPD-83MOGA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-83MOGA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-83MZ7Q Kennedy disease 8B61.4 Orphanet 481 TPD-83MZ7Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-83MZ7Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-83MZ7Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-83WFT1 Noonan syndrome LD2F.15 Orphanet 648 TPD-83WFT1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-83WFT1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-83WFT1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-83WFT1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-83WFT1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-83WFT1 Lynch syndrome 2B90.Y Orphanet 144 TPD-83WFT1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-83WFT1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-83ZNJX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-840EEQ Noonan syndrome LD2F.15 Orphanet 648 TPD-840EEQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-840EEQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-840EEQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-840EEQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-840EEQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-840EEQ Lynch syndrome 2B90.Y Orphanet 144 TPD-840EEQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-840EEQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-840W69 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-841KLO Kennedy disease 8B61.4 Orphanet 481 TPD-841KLO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-841KLO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-841KLO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-842Q9V Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-8457DC Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8477GD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8477GD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8477GD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-848S7J Kennedy disease 8B61.4 Orphanet 481 TPD-848S7J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-848S7J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-848S7J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-848T76 Noonan syndrome LD2F.15 Orphanet 648 TPD-848T76 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-848T76 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-848T76 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-848T76 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-848T76 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-848T76 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-848T76 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-848T76 Craniopharyngioma 2F9A Orphanet 54595 TPD-848T76 Cushing disease 5A70.0 Orphanet 96253 TPD-84C5DC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-84C5DC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-84C5DC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-84CCLS Familial melanoma QC61.Y Orphanet 618 TPD-84CCLS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-84CFBI Kennedy disease 8B61.4 Orphanet 481 TPD-84CFBI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-84CFBI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-84CFBI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-84CFUT Noonan syndrome LD2F.15 Orphanet 648 TPD-84CFUT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-84CFUT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-84CFUT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-84CFUT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-84CFUT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-84CFUT Lynch syndrome 2B90.Y Orphanet 144 TPD-84CFUT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-84CFUT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-84GDIN Kennedy disease 8B61.4 Orphanet 481 TPD-84GDIN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-84GDIN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-84GDIN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-84GKS6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-84K6UA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-84K6UA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-84K6UA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-84K6UA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-84KJUD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-84KJUD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-84KMW5 Noonan syndrome LD2F.15 Orphanet 648 TPD-84KMW5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-84KMW5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-84KMW5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-84KMW5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-84KMW5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-84KMW5 Lynch syndrome 2B90.Y Orphanet 144 TPD-84KMW5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-84KMW5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-84MU5I Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-84PA8L Noonan syndrome LD2F.15 Orphanet 648 TPD-84PA8L Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-84QB4V Weaver syndrome LD2C Orphanet 3447 TPD-84QPRR Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-84RMTP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-84RMTP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-84RMTP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-84VGSH Kennedy disease 8B61.4 Orphanet 481 TPD-84VGSH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-84VGSH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-84VGSH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-84YIUD Kennedy disease 8B61.4 Orphanet 481 TPD-84YIUD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-84YIUD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-84YIUD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-850TZN Hirschsprung disease LB16.1 Orphanet 388 TPD-850TZN Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-850TZN Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-851E7L Noonan syndrome LD2F.15 Orphanet 648 TPD-851E7L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-851E7L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-851E7L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-851E7L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-851E7L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-851E7L Lynch syndrome 2B90.Y Orphanet 144 TPD-851E7L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-851E7L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-851WUF Noonan syndrome LD2F.15 Orphanet 648 TPD-851WUF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-851WUF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-851WUF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-851WUF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-851WUF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-851WUF Lynch syndrome 2B90.Y Orphanet 144 TPD-851WUF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-851WUF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-853IKS Noonan syndrome LD2F.15 Orphanet 648 TPD-853IKS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-853IKS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-853IKS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-853IKS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-853IKS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-853IKS Lynch syndrome 2B90.Y Orphanet 144 TPD-853IKS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-853IKS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-853TQQ Achondroplasia LD24.00 Orphanet 15 TPD-853TQQ Hypochondroplasia LD24.01 Orphanet 429 TPD-853TQQ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-853TQQ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-853TQQ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-853TQQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-853TQQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-853TQQ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-853TQQ Muenke syndrome LD24.GY Orphanet 53271 TPD-853TQQ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-853TQQ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-853TQQ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-85AREF Noonan syndrome LD2F.15 Orphanet 648 TPD-85AREF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-85AREF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-85AREF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-85AREF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-85AREF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-85AREF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-85AREF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-85AREF Craniopharyngioma 2F9A Orphanet 54595 TPD-85AREF Cushing disease 5A70.0 Orphanet 96253 TPD-85BEQ2 Weaver syndrome LD2C Orphanet 3447 TPD-85CB0O Noonan syndrome LD2F.15 Orphanet 648 TPD-85CB0O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-85CB0O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-85CB0O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-85CB0O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-85CB0O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-85CB0O Lynch syndrome 2B90.Y Orphanet 144 TPD-85CB0O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-85CB0O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-85D7OJ Familial melanoma QC61.Y Orphanet 618 TPD-85D7OJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-85FGL7 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-85FGL7 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-85FGL7 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-85FGL7 Polycythemia vera 2A20.4 Orphanet 729 TPD-85FGL7 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-85FGL7 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-85FJML Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-85FJML Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-85FJML Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-85FJML Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-85FJML Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-85FJML Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-85FJML Semantic dementia 6D83 Orphanet 100069 TPD-85FJML Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-85GP12 Noonan syndrome LD2F.15 Orphanet 648 TPD-85GP12 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-85GP12 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-85GP12 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-85GP12 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-85GP12 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-85GP12 Lynch syndrome 2B90.Y Orphanet 144 TPD-85GP12 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-85GP12 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-85ILV5 Kennedy disease 8B61.4 Orphanet 481 TPD-85ILV5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-85ILV5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-85ILV5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-85JAGC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-85JAGC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-85JAGC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-85VZDM Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-85XUGA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-861RU6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-862BDH Familial melanoma QC61.Y Orphanet 618 TPD-862BDH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-869CU1 Familial melanoma QC61.Y Orphanet 618 TPD-869CU1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-869LRU Noonan syndrome LD2F.15 Orphanet 648 TPD-869LRU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-869LRU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-869LRU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-869LRU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-869LRU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-869LRU Lynch syndrome 2B90.Y Orphanet 144 TPD-869LRU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-869LRU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-869T3E Kennedy disease 8B61.4 Orphanet 481 TPD-869T3E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-869T3E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-869T3E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-86A0CN Kennedy disease 8B61.4 Orphanet 481 TPD-86A0CN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-86A0CN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-86A0CN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-86AEWD Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-86AEWD Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-86AEWD Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-86AEWD Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-86AEWD Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-86AEWD Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-86AEWD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-86AEWD Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-86AEWD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-86DZC3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-86DZC3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-86DZC3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-86DZC3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-86IG2B Burkitt lymphoma XH4KA9 Orphanet 543 TPD-86IG2B Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-86IG2B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-86KRVH Noonan syndrome LD2F.15 Orphanet 648 TPD-86KRVH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-86KRVH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-86KRVH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-86KRVH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-86KRVH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-86KRVH Lynch syndrome 2B90.Y Orphanet 144 TPD-86KRVH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-86KRVH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-86KXG7 Noonan syndrome LD2F.15 Orphanet 648 TPD-86KXG7 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-86L7AX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-86L7AX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-86L7AX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-86MQID 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-86O2H6 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-86O2H6 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-86O2H6 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-86U3A7 Kennedy disease 8B61.4 Orphanet 481 TPD-86U3A7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-86U3A7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-86U3A7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-86U90S Kennedy disease 8B61.4 Orphanet 481 TPD-86U90S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-86U90S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-86U90S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-86V5OE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-86WV1E Kennedy disease 8B61.4 Orphanet 481 TPD-86WV1E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-86WV1E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-86WV1E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-86YMG4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-875NIS Kennedy disease 8B61.4 Orphanet 481 TPD-875NIS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-875NIS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-875NIS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-878IJ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-879A3R Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-879IX1 Kennedy disease 8B61.4 Orphanet 481 TPD-879IX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-879IX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-879IX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-87AO3Y Kennedy disease 8B61.4 Orphanet 481 TPD-87AO3Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-87AO3Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-87AO3Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-87B3TA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-87B3TA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-87B3TA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-87B3TA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-87DSVR Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-87ELAB Noonan syndrome LD2F.15 Orphanet 648 TPD-87ELAB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-87ELAB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-87ELAB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-87ELAB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-87ELAB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-87ELAB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-87ELAB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-87ELAB Craniopharyngioma 2F9A Orphanet 54595 TPD-87ELAB Cushing disease 5A70.0 Orphanet 96253 TPD-87I8QM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-87JLYN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-87NCAD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-87NCAD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-87NCAD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-87O85H Kennedy disease 8B61.4 Orphanet 481 TPD-87O85H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-87O85H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-87O85H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-87OW2N Noonan syndrome LD2F.15 Orphanet 648 TPD-87OW2N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-87OW2N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-87OW2N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-87OW2N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-87OW2N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-87OW2N Lynch syndrome 2B90.Y Orphanet 144 TPD-87OW2N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-87OW2N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-87SIZ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-87SIZ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-87SIZ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-87SIZ6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-87T0KV Kennedy disease 8B61.4 Orphanet 481 TPD-87T0KV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-87T0KV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-87T0KV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-87UQ4E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-87UQ4E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-87UQ4E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-87YYGM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-87YYGM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-87YYGM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8868YA Noonan syndrome LD2F.15 Orphanet 648 TPD-8868YA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8868YA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8868YA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8868YA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8868YA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8868YA Lynch syndrome 2B90.Y Orphanet 144 TPD-8868YA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8868YA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-887EU8 Familial melanoma QC61.Y Orphanet 618 TPD-887EU8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-88CF6W Kennedy disease 8B61.4 Orphanet 481 TPD-88CF6W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-88CF6W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-88CF6W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-88CTIS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-88E657 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-88E657 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-88ES33 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-88ES33 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-88F1KR Kennedy disease 8B61.4 Orphanet 481 TPD-88F1KR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-88F1KR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-88F1KR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-88I54O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-88I54O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-88I54O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-88I87U Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-88I87U Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-88I87U Primary myelofibrosis 2A20.2 Orphanet 824 TPD-88I87U Polycythemia vera 2A20.4 Orphanet 729 TPD-88I87U Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-88I87U Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-88I87U T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-88JFCT Kennedy disease 8B61.4 Orphanet 481 TPD-88JFCT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-88JFCT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-88JFCT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-88NCG4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-88NCG4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-88PNXZ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-88ROJG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-88S6EB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-88TKTP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-88TKTP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-88TKTP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-88TKTP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-88TKTP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-88TKTP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-88TKTP Semantic dementia 6D83 Orphanet 100069 TPD-88TKTP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-88TUDG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-88TUDG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-88TUDG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-891KJV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-891KJV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-891KJV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-891KJV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-894GEZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-894GEZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8954TL Kennedy disease 8B61.4 Orphanet 481 TPD-8954TL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8954TL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8954TL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-897PCM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-89843P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-89843P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-899HV2 Kennedy disease 8B61.4 Orphanet 481 TPD-899HV2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-899HV2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-899HV2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-89D9V3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-89D9V3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-89D9V3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-89IG33 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-89IG33 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-89J5LV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-89J5LV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-89KT64 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-89KT64 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-89LDO2 Noonan syndrome LD2F.15 Orphanet 648 TPD-89LDO2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-89LDO2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-89LDO2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-89LDO2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-89LDO2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-89LDO2 Lynch syndrome 2B90.Y Orphanet 144 TPD-89LDO2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-89LDO2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-89LLPI Kennedy disease 8B61.4 Orphanet 481 TPD-89LLPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-89LLPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-89LLPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-89M5GA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-89M5GA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-89Q7D8 Kennedy disease 8B61.4 Orphanet 481 TPD-89Q7D8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-89Q7D8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-89Q7D8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-89R3D9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-89R3D9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-89WWV5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-89WWV5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-89WWV5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-89WWV5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-89ZKDY Kennedy disease 8B61.4 Orphanet 481 TPD-89ZKDY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-89ZKDY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-89ZKDY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8A180N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8A180N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8A21CC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8A21CC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8A3TXO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8A3TXO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8A81W8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8A8G6W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8A8G6W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8A9I79 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8A9I79 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8AA75X CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8AC45M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8AC45M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8AC45M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8AGTHK Familial melanoma QC61.Y Orphanet 618 TPD-8AJSOO Noonan syndrome LD2F.15 Orphanet 648 TPD-8AJSOO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8AJSOO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8AJSOO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8AJSOO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8AJSOO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8AJSOO Lynch syndrome 2B90.Y Orphanet 144 TPD-8AJSOO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8AJSOO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8AKG0R Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-8AKG0R Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-8AKG0R Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-8AKG0R Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-8AKG0R Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-8AKG0R Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-8AKG0R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8AKG0R Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-8AKG0R Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8ALXZD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8AO727 Noonan syndrome LD2F.15 Orphanet 648 TPD-8AO727 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8AO727 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8AO727 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8AO727 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8AO727 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8AO727 Lynch syndrome 2B90.Y Orphanet 144 TPD-8AO727 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8AO727 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8AQ9VG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8AQ9VG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8AQ9VG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8ARNRU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8ARNRU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8ARNRU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8ARYDB Kennedy disease 8B61.4 Orphanet 481 TPD-8ARYDB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8ARYDB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8ARYDB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8AXJCX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8AXJCX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8B0F7P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8B0F7P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8B0RBY Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8B0Z6V Noonan syndrome LD2F.15 Orphanet 648 TPD-8B0Z6V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8B0Z6V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8B0Z6V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8B0Z6V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8B0Z6V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8B0Z6V Lynch syndrome 2B90.Y Orphanet 144 TPD-8B0Z6V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8B0Z6V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8B1PW8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8B1PW8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8B1PW8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8B8YWV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8B8YWV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8B8YWV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8B9PWS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8B9PWS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8BA0WZ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-8BA0WZ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-8BAYKS Kennedy disease 8B61.4 Orphanet 481 TPD-8BAYKS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8BAYKS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8BAYKS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8BBL4B Kennedy disease 8B61.4 Orphanet 481 TPD-8BBL4B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8BBL4B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8BBL4B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8BC4TH Noonan syndrome LD2F.15 Orphanet 648 TPD-8BC4TH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8BC4TH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8BC4TH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8BC4TH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8BC4TH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8BC4TH Lynch syndrome 2B90.Y Orphanet 144 TPD-8BC4TH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8BC4TH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8BCSIT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8BEZ2U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8BEZ2U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8BEZ2U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8BEZ2U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8BFLKK Kennedy disease 8B61.4 Orphanet 481 TPD-8BFLKK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8BFLKK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8BFLKK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8BHQT6 Familial melanoma QC61.Y Orphanet 618 TPD-8BHQT6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8BKXAS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8BM51G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8BM51G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8BOIMM Noonan syndrome LD2F.15 Orphanet 648 TPD-8BOIMM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8BOIMM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8BOIMM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8BOIMM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8BOIMM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8BOIMM Lynch syndrome 2B90.Y Orphanet 144 TPD-8BOIMM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8BOIMM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8BOJOD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8BOJOD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8BOJOD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8BOJOD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8BSYXG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8BSYXG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8BUTBR Kennedy disease 8B61.4 Orphanet 481 TPD-8BUTBR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8BUTBR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8BUTBR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8BW6MX Noonan syndrome LD2F.15 Orphanet 648 TPD-8BW6MX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8BW6MX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8BW6MX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8BW6MX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8BW6MX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8BW6MX Lynch syndrome 2B90.Y Orphanet 144 TPD-8BW6MX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8BW6MX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8BYUWM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8BYUWM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8C1U2E Noonan syndrome LD2F.15 Orphanet 648 TPD-8C1U2E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8C1U2E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8C1U2E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8C1U2E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8C1U2E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8C1U2E Lynch syndrome 2B90.Y Orphanet 144 TPD-8C1U2E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8C1U2E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8C45LQ Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-8C45LQ Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-8C45LQ Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-8C45LQ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-8C45LQ Primary myelofibrosis 2A20.2 Orphanet 824 TPD-8C45LQ Polycythemia vera 2A20.4 Orphanet 729 TPD-8C45LQ Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-8C63HV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8C63HV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8C63HV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8C66Y6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8C66Y6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8C7AU1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8C7AU1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8C7AU1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8C9JZ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-8C9JZ9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8C9JZ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8C9JZ9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8C9JZ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8C9JZ9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8C9JZ9 Lynch syndrome 2B90.Y Orphanet 144 TPD-8C9JZ9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8C9JZ9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8CA7Y1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8CA7Y1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8CA7Y1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8CA7Y1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8CBTHM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8CBTHM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8CBTHM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8CC6VV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8CC6VV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8CEMGT Noonan syndrome LD2F.15 Orphanet 648 TPD-8CEMGT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8CEMGT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8CEMGT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8CEMGT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8CEMGT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8CEMGT Lynch syndrome 2B90.Y Orphanet 144 TPD-8CEMGT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8CEMGT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8CH8C2 Kennedy disease 8B61.4 Orphanet 481 TPD-8CH8C2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8CH8C2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8CH8C2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8CHOK8 Kennedy disease 8B61.4 Orphanet 481 TPD-8CHOK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8CHOK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8CHOK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8CI1PN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8CJ4B6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8CJCY6 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-8CN6P3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8CN6P3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8CN6P3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8CP4TQ Kennedy disease 8B61.4 Orphanet 481 TPD-8CP4TQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8CP4TQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8CP4TQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8CSAYW Kennedy disease 8B61.4 Orphanet 481 TPD-8CSAYW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8CSAYW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8CSAYW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8CTGRT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8CTGRT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8CTGRT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8CTGRT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8CVPX1 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-8CWMFY Familial melanoma QC61.Y Orphanet 618 TPD-8CWMFY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8CXGTH Noonan syndrome LD2F.15 Orphanet 648 TPD-8CXGTH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8CXGTH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8CXGTH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8CXGTH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8CXGTH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8CXGTH Lynch syndrome 2B90.Y Orphanet 144 TPD-8CXGTH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8CXGTH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8D0JUV Kennedy disease 8B61.4 Orphanet 481 TPD-8D0JUV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8D0JUV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8D0JUV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8D1296 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8D1296 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8D5GP3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8D5GP3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8D5GP3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8D6LMM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-8D7SOO Kennedy disease 8B61.4 Orphanet 481 TPD-8D7SOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8D7SOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8D7SOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8D7TSO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8D7TSO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8D7TSO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8D8KF9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8D8KF9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8D9VYU Kennedy disease 8B61.4 Orphanet 481 TPD-8D9VYU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8D9VYU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8D9VYU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8DBZ3B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8DE2DK Noonan syndrome LD2F.15 Orphanet 648 TPD-8DE2DK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8DE2DK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8DE2DK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8DE2DK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8DE2DK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8DE2DK Lynch syndrome 2B90.Y Orphanet 144 TPD-8DE2DK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8DE2DK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8DG1ZJ Kennedy disease 8B61.4 Orphanet 481 TPD-8DG1ZJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8DG1ZJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8DG1ZJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8DGBT6 Noonan syndrome LD2F.15 Orphanet 648 TPD-8DGBT6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-8DOI13 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8DOI13 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8DOIVX Kennedy disease 8B61.4 Orphanet 481 TPD-8DOIVX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8DOIVX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8DOIVX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8DQC6N CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8DQMAI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8DQMAI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8DQMAI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8DW8PG Noonan syndrome LD2F.15 Orphanet 648 TPD-8DW8PG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8DW8PG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8DW8PG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8DW8PG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8DW8PG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8DW8PG Lynch syndrome 2B90.Y Orphanet 144 TPD-8DW8PG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8DW8PG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8DWL4C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8DWL4C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8DX3BZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8DX3BZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8DX3BZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8DX3BZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8DYJXS Noonan syndrome LD2F.15 Orphanet 648 TPD-8DYJXS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8DYJXS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8DYJXS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8DYJXS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8DYJXS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8DYJXS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8DYJXS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8DYJXS Craniopharyngioma 2F9A Orphanet 54595 TPD-8DYJXS Cushing disease 5A70.0 Orphanet 96253 TPD-8DZ5E0 Kennedy disease 8B61.4 Orphanet 481 TPD-8DZ5E0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8DZ5E0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8DZ5E0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8DZTJ7 Kennedy disease 8B61.4 Orphanet 481 TPD-8DZTJ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8DZTJ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8DZTJ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8E0AXW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8E4W1P Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-8E81Y8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8E81Y8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8E81Y8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8E81Y8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8E88QX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8E88QX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8E88QX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8E9RE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-8E9RE4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8E9RE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8E9RE4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8E9RE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8E9RE4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8E9RE4 Lynch syndrome 2B90.Y Orphanet 144 TPD-8E9RE4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8E9RE4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8EBJA6 Noonan syndrome LD2F.15 Orphanet 648 TPD-8EBJA6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8EBJA6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8EBJA6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8EBJA6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8EBJA6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8EBJA6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8EBJA6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8EBJA6 Craniopharyngioma 2F9A Orphanet 54595 TPD-8EBJA6 Cushing disease 5A70.0 Orphanet 96253 TPD-8EDU9U Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8EDU9U Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8EDU9U Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8EDU9U Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8EDU9U Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8EDU9U Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8EDU9U Semantic dementia 6D83 Orphanet 100069 TPD-8EDU9U Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8EEHJN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8EGPO8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8EQ1S6 Noonan syndrome LD2F.15 Orphanet 648 TPD-8EQ1S6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8EQ1S6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8EQ1S6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8EQ1S6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8EQ1S6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8EQ1S6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8EQ1S6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8EQ1S6 Craniopharyngioma 2F9A Orphanet 54595 TPD-8EQ1S6 Cushing disease 5A70.0 Orphanet 96253 TPD-8EUGVE Noonan syndrome LD2F.15 Orphanet 648 TPD-8EUGVE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8EUGVE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8EUGVE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8EUGVE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8EUGVE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8EUGVE Lynch syndrome 2B90.Y Orphanet 144 TPD-8EUGVE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8EUGVE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8EX2O2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8EX2O2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8EX2O2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8EX2O2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8EZQAX Familial melanoma QC61.Y Orphanet 618 TPD-8EZQAX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8F352D Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-8F352D TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome LD90.Y Orphanet 488632 TPD-8F4F0K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8F4F0K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8F4F0K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8F4Y0G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8F4Y0G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8F4Y0G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8F4Y0G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8F5TLV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8F5TLV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8F9UX4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8F9UX4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8FBKV5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8FJFQW Kennedy disease 8B61.4 Orphanet 481 TPD-8FJFQW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8FJFQW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8FJFQW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8FJTWF Kennedy disease 8B61.4 Orphanet 481 TPD-8FJTWF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8FJTWF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8FJTWF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8FQZOO Kennedy disease 8B61.4 Orphanet 481 TPD-8FQZOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8FQZOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8FQZOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8FS99H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8FS99H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8FS99H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8FSDJZ Kennedy disease 8B61.4 Orphanet 481 TPD-8FSDJZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8FSDJZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8FSDJZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8FUC9N Familial melanoma QC61.Y Orphanet 618 TPD-8FUC9N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8FVTCB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8FVTCB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8FVTCB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8FX5FV Kennedy disease 8B61.4 Orphanet 481 TPD-8FX5FV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8FX5FV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8FX5FV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8G09RL Kennedy disease 8B61.4 Orphanet 481 TPD-8G09RL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8G09RL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8G09RL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8G0NZN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8G1T2A Kennedy disease 8B61.4 Orphanet 481 TPD-8G1T2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8G1T2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8G1T2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8G2IE6 Familial melanoma QC61.Y Orphanet 618 TPD-8G2IE6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8G4HE9 Familial melanoma QC61.Y Orphanet 618 TPD-8G4HE9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8G4UDR Familial melanoma QC61.Y Orphanet 618 TPD-8G4UDR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8GCQ3Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8GCQ3Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8GCQ3Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8GCQ3Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8GCQ3Z Neuroblastoma 2A00.11 Orphanet 635 TPD-8GCQ3Z Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-8GCQ3Z ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-8GCQ3Z ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-8GCQ3Z Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-8GFHDQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8GH5VT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8GH5VT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8GH5VT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8GH5VT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8GJJDI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8GT4MX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8GT4MX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8GT4MX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8GT4MX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8GTRXM Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-8GXBKK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8GXBKK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8GXBKK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8GXTKL Noonan syndrome LD2F.15 Orphanet 648 TPD-8GXTKL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8GXTKL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8GXTKL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8GXTKL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8GXTKL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8GXTKL Lynch syndrome 2B90.Y Orphanet 144 TPD-8GXTKL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8GXTKL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8H0HII Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8H0HII Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8H0HII Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8H18F2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8H18F2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8H18F2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8H18F2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8H18F2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8H18F2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8H18F2 Semantic dementia 6D83 Orphanet 100069 TPD-8H18F2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8H4ROV Kennedy disease 8B61.4 Orphanet 481 TPD-8H4ROV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8H4ROV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8H4ROV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8H7X20 Noonan syndrome LD2F.15 Orphanet 648 TPD-8H7X20 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8H7X20 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8H7X20 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8H7X20 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8H7X20 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8H7X20 Lynch syndrome 2B90.Y Orphanet 144 TPD-8H7X20 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8H7X20 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8HBERC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8HBYE0 Familial melanoma QC61.Y Orphanet 618 TPD-8HBYE0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8HEDZN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8HEDZN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8HGPOG Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-8HML69 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8HML69 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8HML69 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8HMZ3R Noonan syndrome LD2F.15 Orphanet 648 TPD-8HMZ3R Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8HMZ3R Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8HMZ3R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8HMZ3R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8HMZ3R Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8HMZ3R Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8HMZ3R Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8HMZ3R Craniopharyngioma 2F9A Orphanet 54595 TPD-8HMZ3R Cushing disease 5A70.0 Orphanet 96253 TPD-8HOEB1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8HOEB1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8HQCBT Familial melanoma QC61.Y Orphanet 618 TPD-8HQCBT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8HREA3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8HXJND Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8HY050 Kennedy disease 8B61.4 Orphanet 481 TPD-8HY050 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8HY050 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8HY050 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8I1GFN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8I4355 Noonan syndrome LD2F.15 Orphanet 648 TPD-8I4355 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8I4355 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8I4355 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8I4355 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8I4355 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8I4355 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8I4355 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8I4355 Craniopharyngioma 2F9A Orphanet 54595 TPD-8I4355 Cushing disease 5A70.0 Orphanet 96253 TPD-8I5CTA Weaver syndrome LD2C Orphanet 3447 TPD-8I8K3A Familial melanoma QC61.Y Orphanet 618 TPD-8I8K3A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8IAD98 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8IHFDP Kennedy disease 8B61.4 Orphanet 481 TPD-8IHFDP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8IHFDP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8IHFDP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8IIO95 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8IIO95 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8IIO95 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8IIO95 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8IMYPI Noonan syndrome LD2F.15 Orphanet 648 TPD-8IMYPI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8IMYPI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8IMYPI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8IMYPI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8IMYPI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8IMYPI Lynch syndrome 2B90.Y Orphanet 144 TPD-8IMYPI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8IMYPI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8IPB4S Kennedy disease 8B61.4 Orphanet 481 TPD-8IPB4S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8IPB4S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8IPB4S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8IRFVT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8IRFVT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8IRFVT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8IRFVT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8IRFVT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8IRFVT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8IRFVT Semantic dementia 6D83 Orphanet 100069 TPD-8IRFVT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8IRMUT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8IWSDK Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-8IWSDK Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-8IWSDK Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-8IWSDK Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-8IWSDK Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-8IWSDK Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-8IWSDK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8IWSDK Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-8IWSDK Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8IZ0Q8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8J0OAN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8J0OAN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8J0OAN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8J6TIG Familial melanoma QC61.Y Orphanet 618 TPD-8J6TIG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8JBDWG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8JBDWG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8JBDWG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8JD4KI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8JD4KI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8JD4KI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8JE4JF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8JE4JF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8JE4JF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8JE4JF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8JFBA2 Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-8JHZGF Kennedy disease 8B61.4 Orphanet 481 TPD-8JHZGF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8JHZGF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8JHZGF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8JJTW8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8JJTW8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8JLOAZ Kennedy disease 8B61.4 Orphanet 481 TPD-8JLOAZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8JLOAZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8JLOAZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8JXTL1 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-8JYY7L Familial melanoma QC61.Y Orphanet 618 TPD-8JYY7L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8JZKAZ Familial melanoma QC61.Y Orphanet 618 TPD-8JZKAZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8JZTLX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8JZTLX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8JZTLX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8K0O8T Noonan syndrome LD2F.15 Orphanet 648 TPD-8K0O8T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8K0O8T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8K0O8T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8K0O8T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8K0O8T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8K0O8T Lynch syndrome 2B90.Y Orphanet 144 TPD-8K0O8T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8K0O8T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8K2FMZ Noonan syndrome LD2F.15 Orphanet 648 TPD-8K2FMZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8K2FMZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8K2FMZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8K2FMZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8K2FMZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8K2FMZ Lynch syndrome 2B90.Y Orphanet 144 TPD-8K2FMZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8K2FMZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8K2RFE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8K9MDQ Kennedy disease 8B61.4 Orphanet 481 TPD-8K9MDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8K9MDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8K9MDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8K9Z76 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8K9Z76 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8KDUWC Noonan syndrome LD2F.15 Orphanet 648 TPD-8KDUWC Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-8KE74O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8KEVPQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8KEVPQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8KI8WK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8KKTS6 Kennedy disease 8B61.4 Orphanet 481 TPD-8KKTS6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8KKTS6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8KKTS6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8KN6SP Kennedy disease 8B61.4 Orphanet 481 TPD-8KN6SP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8KN6SP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8KN6SP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8KOAKK Kennedy disease 8B61.4 Orphanet 481 TPD-8KOAKK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8KOAKK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8KOAKK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8KPZOO Kennedy disease 8B61.4 Orphanet 481 TPD-8KPZOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8KPZOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8KPZOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8KRN6V Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8KRQNX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8KS6G0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8KU212 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-8KWBKB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8KXPO0 Familial melanoma QC61.Y Orphanet 618 TPD-8KXPO0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8KYKAE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8KYKAE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8KYKAE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8L1QKD Noonan syndrome LD2F.15 Orphanet 648 TPD-8L1QKD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8L1QKD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8L1QKD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8L1QKD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8L1QKD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8L1QKD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8L1QKD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8L1QKD Craniopharyngioma 2F9A Orphanet 54595 TPD-8L1QKD Cushing disease 5A70.0 Orphanet 96253 TPD-8L1XZQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8L5JX6 Noonan syndrome LD2F.15 Orphanet 648 TPD-8L5JX6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8L5JX6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8L5JX6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8L5JX6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8L5JX6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8L5JX6 Lynch syndrome 2B90.Y Orphanet 144 TPD-8L5JX6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8L5JX6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8L5VJ3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8L704I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8L7OPM Kennedy disease 8B61.4 Orphanet 481 TPD-8L7OPM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8L7OPM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8L7OPM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8LCPVG Familial melanoma QC61.Y Orphanet 618 TPD-8LCPVG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8LDMZT Familial melanoma QC61.Y Orphanet 618 TPD-8LDMZT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8LFSJE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8LFSJE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8LFSJE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8LG73Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8LG73Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8LG73Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8LG976 Noonan syndrome LD2F.15 Orphanet 648 TPD-8LG976 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8LG976 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8LG976 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8LG976 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8LG976 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8LG976 Lynch syndrome 2B90.Y Orphanet 144 TPD-8LG976 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8LG976 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8LGZGO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-8LGZGO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-8LHS7X Noonan syndrome LD2F.15 Orphanet 648 TPD-8LHS7X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8LHS7X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8LHS7X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8LHS7X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8LHS7X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8LHS7X Lynch syndrome 2B90.Y Orphanet 144 TPD-8LHS7X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8LHS7X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8LIVZO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8LKJXS Noonan syndrome LD2F.15 Orphanet 648 TPD-8LKJXS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8LKJXS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8LKJXS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8LKJXS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8LKJXS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8LKJXS Lynch syndrome 2B90.Y Orphanet 144 TPD-8LKJXS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8LKJXS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8LL7YD Familial melanoma QC61.Y Orphanet 618 TPD-8LL7YD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8LNAIG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8LO4GB Noonan syndrome LD2F.15 Orphanet 648 TPD-8LO4GB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8LO4GB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8LO4GB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8LO4GB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8LO4GB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8LO4GB Lynch syndrome 2B90.Y Orphanet 144 TPD-8LO4GB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8LO4GB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8LO4J9 Kennedy disease 8B61.4 Orphanet 481 TPD-8LO4J9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8LO4J9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8LO4J9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8LTOAG Kennedy disease 8B61.4 Orphanet 481 TPD-8LTOAG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8LTOAG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8LTOAG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8LWC64 Kennedy disease 8B61.4 Orphanet 481 TPD-8LWC64 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8LWC64 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8LWC64 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8LWWIB Noonan syndrome LD2F.15 Orphanet 648 TPD-8LWWIB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8LWWIB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8LWWIB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8LWWIB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8LWWIB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8LWWIB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8LWWIB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8LWWIB Craniopharyngioma 2F9A Orphanet 54595 TPD-8LWWIB Cushing disease 5A70.0 Orphanet 96253 TPD-8M0HT9 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-8M3Q8L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8M3Q8L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8M6HN7 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-8M6HN7 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-8MA6ZJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-8MA6ZJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-8MHSVP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8MHSVP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8MHSVP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8MISFF Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8MM747 Kennedy disease 8B61.4 Orphanet 481 TPD-8MM747 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8MM747 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8MM747 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8MP5NN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8MP5NN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8MPDI5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8MPDI5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8MQ45S Familial melanoma QC61.Y Orphanet 618 TPD-8MQ45S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8MU3HP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8MU3HP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8MXJ5X Kennedy disease 8B61.4 Orphanet 481 TPD-8MXJ5X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8MXJ5X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8MXJ5X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8MZAU4 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-8MZAU4 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-8MZAU4 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-8MZAU4 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-8MZAU4 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-8MZAU4 Polycythemia vera 2A20.4 Orphanet 729 TPD-8MZAU4 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-8N01H1 Noonan syndrome LD2F.15 Orphanet 648 TPD-8N01H1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8N01H1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8N01H1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8N01H1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8N01H1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8N01H1 Lynch syndrome 2B90.Y Orphanet 144 TPD-8N01H1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8N01H1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8N0EAX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8N4QE2 Kennedy disease 8B61.4 Orphanet 481 TPD-8N4QE2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8N4QE2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8N4QE2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8N6BGB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8N6QHF Kennedy disease 8B61.4 Orphanet 481 TPD-8N6QHF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8N6QHF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8N6QHF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8N6SGF Kennedy disease 8B61.4 Orphanet 481 TPD-8N6SGF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8N6SGF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8N6SGF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8NG78A Kennedy disease 8B61.4 Orphanet 481 TPD-8NG78A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8NG78A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8NG78A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8NGUBC Kennedy disease 8B61.4 Orphanet 481 TPD-8NGUBC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8NGUBC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8NGUBC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8NGV98 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-8NGV98 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-8NGV98 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-8NH3M6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8NH545 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-8NINNM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8NJDNJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8NJDNJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8NJFF7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8NJFF7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8NKHA7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8NKHA7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8NKHA7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8NKHA7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8NM1T0 Familial melanoma QC61.Y Orphanet 618 TPD-8NM1T0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8NNVVG Weaver syndrome LD2C Orphanet 3447 TPD-8NODV6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8NQ393 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-8NUE7X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8NUE7X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8NUE7X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8NUE7X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8NURK1 Familial melanoma QC61.Y Orphanet 618 TPD-8NURK1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8NY1PY Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-8NY1PY Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-8NY1PY Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-8NY1PY Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-8NY1PY Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-8NY1PY Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-8NY1PY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8NY1PY Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-8NY1PY Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8NY5N0 X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-8NZKCX Achondroplasia LD24.00 Orphanet 15 TPD-8NZKCX Hypochondroplasia LD24.01 Orphanet 429 TPD-8NZKCX Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-8NZKCX Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-8NZKCX Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-8NZKCX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8NZKCX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8NZKCX Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-8NZKCX Muenke syndrome LD24.GY Orphanet 53271 TPD-8NZKCX Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-8NZKCX Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-8NZKCX Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-8O2KLG Kennedy disease 8B61.4 Orphanet 481 TPD-8O2KLG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8O2KLG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8O2KLG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8O38Z2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8O3HTT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8O3RJT Noonan syndrome LD2F.15 Orphanet 648 TPD-8O3RJT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8O3RJT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8O3RJT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8O3RJT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8O3RJT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8O3RJT Lynch syndrome 2B90.Y Orphanet 144 TPD-8O3RJT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8O3RJT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8O5AAP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8O5H8S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8O5H8S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8O5H8S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8O91EH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8OC2T1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-8OC2T1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-8OF5G4 Kennedy disease 8B61.4 Orphanet 481 TPD-8OF5G4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8OF5G4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8OF5G4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8OI1JP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8OI1JP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8OI40M Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8OI40M Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8OMM0K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8ORWF9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8OV0RJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8OX0PS Kennedy disease 8B61.4 Orphanet 481 TPD-8OX0PS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8OX0PS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8OX0PS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8OYK4C Kennedy disease 8B61.4 Orphanet 481 TPD-8OYK4C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8OYK4C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8OYK4C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8OYUNT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8P50ED X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8P50ED Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8P7JJR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8P7JJR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8PCD69 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8PFOQK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8PFOQK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8PFOQK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8PFXKF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8PHYJT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8PHYJT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8PMQAB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8PMQAB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8PMQAB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8PN5C6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8PN5C6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8PN5C6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8PN5C6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8PON7R Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-8PON7R Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-8PON7R Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-8PON7R Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-8PON7R Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-8PON7R Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-8PON7R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8PON7R Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-8PON7R Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8PSS6H Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8PTDK7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8PTDK7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8PTDK7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8PTDK7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8PUNEQ Kennedy disease 8B61.4 Orphanet 481 TPD-8PUNEQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8PUNEQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8PUNEQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8PWOHX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8PWOHX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8PWOHX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8PX6WU Kennedy disease 8B61.4 Orphanet 481 TPD-8PX6WU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8PX6WU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8PX6WU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8Q0PT3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8Q2L13 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8Q2L13 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8Q2L13 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8Q7RWY Weaver syndrome LD2C Orphanet 3447 TPD-8QFGU0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8QFGU0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8QFGU0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8QFGU0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8QGRAK Kennedy disease 8B61.4 Orphanet 481 TPD-8QGRAK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8QGRAK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8QGRAK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8QJ3PQ Familial melanoma QC61.Y Orphanet 618 TPD-8QLHPU Kennedy disease 8B61.4 Orphanet 481 TPD-8QLHPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8QLHPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8QLHPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8QSMM1 Kennedy disease 8B61.4 Orphanet 481 TPD-8QSMM1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8QSMM1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8QSMM1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8QWX5Y Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8QX0HD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8QX0HD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8QX0HD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8R0L4O Noonan syndrome LD2F.15 Orphanet 648 TPD-8R0L4O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8R0L4O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8R0L4O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8R0L4O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8R0L4O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8R0L4O Lynch syndrome 2B90.Y Orphanet 144 TPD-8R0L4O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8R0L4O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8R1J3E Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-8R1TQR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8R1TQR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8R1TQR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8R4P16 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-8R68NB Noonan syndrome LD2F.15 Orphanet 648 TPD-8R68NB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8R68NB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8R68NB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8R68NB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8R68NB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8R68NB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8R68NB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8R68NB Craniopharyngioma 2F9A Orphanet 54595 TPD-8R68NB Cushing disease 5A70.0 Orphanet 96253 TPD-8R7W41 Noonan syndrome LD2F.15 Orphanet 648 TPD-8R7W41 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8R7W41 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8R7W41 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8R7W41 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8R7W41 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8R7W41 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8R7W41 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8R7W41 Craniopharyngioma 2F9A Orphanet 54595 TPD-8R7W41 Cushing disease 5A70.0 Orphanet 96253 TPD-8R8VU7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-8RBI83 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8RBI83 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8RFFNH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8RFFNH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8RFZA4 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-8RJF2I Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8RJZSF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8RJZSF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8RJZSF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8RK3XI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8RK3XI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8RK3XI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8RMVOQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8RMVOQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8RMVOQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8RSS4T Kennedy disease 8B61.4 Orphanet 481 TPD-8RSS4T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8RSS4T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8RSS4T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8RST95 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-8RWIZJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8RWIZJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8RWIZJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8RWIZJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8RWIZJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8RWIZJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8RWIZJ Semantic dementia 6D83 Orphanet 100069 TPD-8RWIZJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8RZJ2C Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8RZJ2C Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8RZJ2C Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8RZJ2C Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8RZJ2C Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8RZJ2C Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8RZJ2C Semantic dementia 6D83 Orphanet 100069 TPD-8RZJ2C Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8S0M1G Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-8S3TND Familial melanoma QC61.Y Orphanet 618 TPD-8S3TND Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8S4D1Q Noonan syndrome LD2F.15 Orphanet 648 TPD-8S4D1Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8S4D1Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8S4D1Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8S4D1Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8S4D1Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8S4D1Q Lynch syndrome 2B90.Y Orphanet 144 TPD-8S4D1Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8S4D1Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8S5AR2 Kennedy disease 8B61.4 Orphanet 481 TPD-8S5AR2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8S5AR2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8S5AR2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8S937U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8SI6RW Noonan syndrome LD2F.15 Orphanet 648 TPD-8SI6RW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8SI6RW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8SI6RW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8SI6RW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8SI6RW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8SI6RW Lynch syndrome 2B90.Y Orphanet 144 TPD-8SI6RW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8SI6RW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8SJWMP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8SJWMP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8SJWMP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8SJWMP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8SJZ02 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8SJZ02 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8SJZ02 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8SOFVW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8SV5GK Kennedy disease 8B61.4 Orphanet 481 TPD-8SV5GK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8SV5GK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8SV5GK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8SVBHE Kennedy disease 8B61.4 Orphanet 481 TPD-8SVBHE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8SVBHE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8SVBHE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8SVV42 Hirschsprung disease LB16.1 Orphanet 388 TPD-8SVV42 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-8SVV42 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-8SWKJ2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8SWKJ2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8SWKJ2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8SX701 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-8SX701 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-8SX701 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-8SX701 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-8SX701 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-8SX701 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-8SX701 Semantic dementia 6D83 Orphanet 100069 TPD-8SX701 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-8T07DE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8T07DE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8T07DE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8T07DE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8T4QDY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8T4QDY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8T5U6Y Noonan syndrome LD2F.15 Orphanet 648 TPD-8T5U6Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8T5U6Y Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-8T5U6Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8T5U6Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8T6B6P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8T6B6P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8T6B6P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8TA048 Noonan syndrome LD2F.15 Orphanet 648 TPD-8TA048 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8TA048 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8TA048 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8TA048 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8TA048 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8TA048 Lynch syndrome 2B90.Y Orphanet 144 TPD-8TA048 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8TA048 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8TB958 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-8TB958 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-8TDOBL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8THSYQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8TI7CK Kennedy disease 8B61.4 Orphanet 481 TPD-8TI7CK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8TI7CK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8TI7CK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8TIR1L Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-8TLEAJ Kennedy disease 8B61.4 Orphanet 481 TPD-8TLEAJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8TLEAJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8TLEAJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8TMAFP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8TMAFP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8TNN9I Noonan syndrome LD2F.15 Orphanet 648 TPD-8TNN9I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8TNN9I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8TNN9I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8TNN9I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8TNN9I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8TNN9I Lynch syndrome 2B90.Y Orphanet 144 TPD-8TNN9I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8TNN9I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8TUQSZ Kennedy disease 8B61.4 Orphanet 481 TPD-8TUQSZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8TUQSZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8TUQSZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8TVQX2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8TVQX2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8TWJ7L Familial melanoma QC61.Y Orphanet 618 TPD-8TWJ7L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8TXF0Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8TXF0Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8TXF0Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8TXF0Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8U0BMW Noonan syndrome LD2F.15 Orphanet 648 TPD-8U0BMW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8U0BMW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8U0BMW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8U0BMW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8U0BMW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8U0BMW Lynch syndrome 2B90.Y Orphanet 144 TPD-8U0BMW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8U0BMW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8U29S2 Noonan syndrome LD2F.15 Orphanet 648 TPD-8U29S2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8U29S2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8U29S2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8U29S2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8U29S2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8U29S2 Lynch syndrome 2B90.Y Orphanet 144 TPD-8U29S2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8U29S2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8U99RT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8U99RT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8UBM8U Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-8UCNMX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8UM9FE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8UM9FE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8UMXUV Noonan syndrome LD2F.15 Orphanet 648 TPD-8UMXUV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-8UNBZ3 Familial melanoma QC61.Y Orphanet 618 TPD-8UNBZ3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8UNMAC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8UNMAC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8UNMAC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8UU9L9 Kennedy disease 8B61.4 Orphanet 481 TPD-8UU9L9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8UU9L9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8UU9L9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8UUVBC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8UUVBC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8UUVBC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8UWJH7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8UWJH7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8UWJH7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8UX2T2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8UX2T2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8UX2T2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8UX7JW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8UX7JW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8UX7JW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8V21P9 Noonan syndrome LD2F.15 Orphanet 648 TPD-8V21P9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8V21P9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8V21P9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8V21P9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8V21P9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8V21P9 Lynch syndrome 2B90.Y Orphanet 144 TPD-8V21P9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8V21P9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8V3RLQ Kennedy disease 8B61.4 Orphanet 481 TPD-8V3RLQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8V3RLQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8V3RLQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8V41AL Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-8V41AL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8V41AL Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8V41AL Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-8V41AL MODY 5A13.6 Orphanet 552 TPD-8V41AL Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-8V41AL Williams syndrome LD44.70 Orphanet 904 TPD-8V41AL Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-8V5SEV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8V5SEV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8V7JU0 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-8VBSCN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8VBSCN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8VBSCN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8VCN8K Kennedy disease 8B61.4 Orphanet 481 TPD-8VCN8K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8VCN8K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8VCN8K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8VDG04 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8VDG04 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8VDG04 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8VFCVY Noonan syndrome LD2F.15 Orphanet 648 TPD-8VFCVY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8VFCVY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8VFCVY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8VFCVY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8VFCVY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8VFCVY Lynch syndrome 2B90.Y Orphanet 144 TPD-8VFCVY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8VFCVY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8VFYJN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8VFYJN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8VFYJN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8VFYJN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8VLK3T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8VLK3T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8VLK3T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8VR0A7 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-8VR0A7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-8VR9J6 Noonan syndrome LD2F.15 Orphanet 648 TPD-8VR9J6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8VR9J6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8VR9J6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8VR9J6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8VR9J6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8VR9J6 Lynch syndrome 2B90.Y Orphanet 144 TPD-8VR9J6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8VR9J6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8VTOV2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8VTOV2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8VWIDM Kennedy disease 8B61.4 Orphanet 481 TPD-8VWIDM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8VWIDM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8VWIDM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8W1LYV Noonan syndrome LD2F.15 Orphanet 648 TPD-8W1LYV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8W1LYV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8W1LYV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8W1LYV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8W1LYV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8W1LYV Lynch syndrome 2B90.Y Orphanet 144 TPD-8W1LYV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8W1LYV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8W43D4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8W58EV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-8W8Y6E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8W8Y6E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8W9X2M Familial melanoma QC61.Y Orphanet 618 TPD-8W9X2M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8WGVWM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-8WJVTJ Noonan syndrome LD2F.15 Orphanet 648 TPD-8WJVTJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8WJVTJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8WJVTJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8WJVTJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8WJVTJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8WJVTJ Lynch syndrome 2B90.Y Orphanet 144 TPD-8WJVTJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8WJVTJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8WLKM1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8WLKM1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8WM0HO Kennedy disease 8B61.4 Orphanet 481 TPD-8WM0HO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8WM0HO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8WM0HO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8WUUNQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8WWJRZ Kennedy disease 8B61.4 Orphanet 481 TPD-8WWJRZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8WWJRZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8WWJRZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8WX9DX Noonan syndrome LD2F.15 Orphanet 648 TPD-8WX9DX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8WX9DX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8WX9DX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8WX9DX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8WX9DX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8WX9DX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8WX9DX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8WX9DX Craniopharyngioma 2F9A Orphanet 54595 TPD-8WX9DX Cushing disease 5A70.0 Orphanet 96253 TPD-8WYBH4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8WYBH4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8WYBH4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8X9BVP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8X9BVP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8X9BVP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8XCOSH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8XCOSH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-8XFQYH Kennedy disease 8B61.4 Orphanet 481 TPD-8XFQYH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8XFQYH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8XFQYH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8XG2HB Familial melanoma QC61.Y Orphanet 618 TPD-8XG2HB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8XGN7Z Kennedy disease 8B61.4 Orphanet 481 TPD-8XGN7Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8XGN7Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8XGN7Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8XH34J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8XH34J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8XH34J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8XH34J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8XL0L8 Noonan syndrome LD2F.15 Orphanet 648 TPD-8XL0L8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8XL0L8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8XL0L8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8XL0L8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8XL0L8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8XL0L8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8XL0L8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8XL0L8 Craniopharyngioma 2F9A Orphanet 54595 TPD-8XL0L8 Cushing disease 5A70.0 Orphanet 96253 TPD-8XPI7H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-8XPI7H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-8XQT56 Kennedy disease 8B61.4 Orphanet 481 TPD-8XQT56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8XQT56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8XQT56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8XR8IT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8XU73Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8XU73Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8XU73Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8XU73Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8Y12EI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-8Y3A4W Noonan syndrome LD2F.15 Orphanet 648 TPD-8Y3A4W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8Y3A4W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8Y3A4W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8Y3A4W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8Y3A4W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8Y3A4W Lynch syndrome 2B90.Y Orphanet 144 TPD-8Y3A4W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8Y3A4W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8Y5AOV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8Y5AOV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8YB27W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-8YGU54 Noonan syndrome LD2F.15 Orphanet 648 TPD-8YGU54 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8YGU54 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8YGU54 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8YGU54 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8YGU54 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8YGU54 Lynch syndrome 2B90.Y Orphanet 144 TPD-8YGU54 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8YGU54 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8YI40L Familial melanoma QC61.Y Orphanet 618 TPD-8YI40L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8YJPQG Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-8YJPQG Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-8YJPQG Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-8YJPQG Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-8YJPQG Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-8YJPQG Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-8YJPQG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8YJPQG Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-8YJPQG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-8YPO9C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-8YPO9C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-8YPO9C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-8YPO9C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-8YRY1G Kennedy disease 8B61.4 Orphanet 481 TPD-8YRY1G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8YRY1G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8YRY1G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8YV6IG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8YV6IG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-8YV6IG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8YX9UH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8YX9UH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8YX9UH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8Z0K57 Noonan syndrome LD2F.15 Orphanet 648 TPD-8Z0K57 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8Z0K57 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8Z0K57 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8Z0K57 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8Z0K57 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8Z0K57 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8Z0K57 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8Z0K57 Craniopharyngioma 2F9A Orphanet 54595 TPD-8Z0K57 Cushing disease 5A70.0 Orphanet 96253 TPD-8Z5DK4 Noonan syndrome LD2F.15 Orphanet 648 TPD-8Z5DK4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8Z5DK4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8Z5DK4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8Z5DK4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8Z5DK4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8Z5DK4 Lynch syndrome 2B90.Y Orphanet 144 TPD-8Z5DK4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8Z5DK4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8Z62IC Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-8Z741U Noonan syndrome LD2F.15 Orphanet 648 TPD-8Z741U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8Z741U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8Z741U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8Z741U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8Z741U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8Z741U Lynch syndrome 2B90.Y Orphanet 144 TPD-8Z741U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8Z741U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8Z7PGB Kennedy disease 8B61.4 Orphanet 481 TPD-8Z7PGB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8Z7PGB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8Z7PGB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8ZBYDP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-8ZBYDP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-8ZBYDP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-8ZG2G5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8ZGG3G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8ZGG3G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8ZH73S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-8ZH73S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-8ZJ27C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-8ZJ27C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-8ZJOCJ Noonan syndrome LD2F.15 Orphanet 648 TPD-8ZJOCJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-8ZJOCJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8ZJOCJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-8ZJOCJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8ZJOCJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-8ZJOCJ Lynch syndrome 2B90.Y Orphanet 144 TPD-8ZJOCJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-8ZJOCJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-8ZNJVW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8ZQ4NX Familial melanoma QC61.Y Orphanet 618 TPD-8ZQ4NX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-8ZRXGI Kennedy disease 8B61.4 Orphanet 481 TPD-8ZRXGI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-8ZRXGI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-8ZRXGI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-8ZYALX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-8ZYG1N Noonan syndrome LD2F.15 Orphanet 648 TPD-8ZYG1N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-8ZYG1N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-8ZYG1N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-8ZYG1N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-8ZYG1N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-8ZYG1N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-8ZYG1N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-8ZYG1N Craniopharyngioma 2F9A Orphanet 54595 TPD-8ZYG1N Cushing disease 5A70.0 Orphanet 96253 TPD-902YL8 Kennedy disease 8B61.4 Orphanet 481 TPD-902YL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-902YL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-902YL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-904L6E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-904L6E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-904L6E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-904L6E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-905Y6C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-907B5D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-908T82 Kennedy disease 8B61.4 Orphanet 481 TPD-908T82 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-908T82 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-908T82 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-908Y1W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-909EOJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-909HED Kennedy disease 8B61.4 Orphanet 481 TPD-909HED Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-909HED Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-909HED Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-909TOM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-90D3NJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-90D3NJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-90D3NJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-90DLJP Kennedy disease 8B61.4 Orphanet 481 TPD-90DLJP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-90DLJP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-90DLJP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-90E30F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-90E30F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-90E30F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-90E30F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-90E30F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-90E30F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-90E30F Semantic dementia 6D83 Orphanet 100069 TPD-90E30F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-90E536 Kennedy disease 8B61.4 Orphanet 481 TPD-90E536 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-90E536 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-90E536 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-90H8QM Familial melanoma QC61.Y Orphanet 618 TPD-90KTS8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-90N5R6 Noonan syndrome LD2F.15 Orphanet 648 TPD-90N5R6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-90N5R6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-90N5R6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-90N5R6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-90N5R6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-90N5R6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-90N5R6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-90N5R6 Craniopharyngioma 2F9A Orphanet 54595 TPD-90N5R6 Cushing disease 5A70.0 Orphanet 96253 TPD-90OZ78 Kennedy disease 8B61.4 Orphanet 481 TPD-90OZ78 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-90OZ78 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-90OZ78 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-90WFCY Noonan syndrome LD2F.15 Orphanet 648 TPD-90WFCY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-90WFCY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-90WFCY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-90WFCY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-90WFCY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-90WFCY Lynch syndrome 2B90.Y Orphanet 144 TPD-90WFCY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-90WFCY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-912LCW Kennedy disease 8B61.4 Orphanet 481 TPD-912LCW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-912LCW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-912LCW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-913VJJ Noonan syndrome LD2F.15 Orphanet 648 TPD-913VJJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-913VJJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-913VJJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-913VJJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-913VJJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-913VJJ Lynch syndrome 2B90.Y Orphanet 144 TPD-913VJJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-913VJJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9140GC Noonan syndrome LD2F.15 Orphanet 648 TPD-9140GC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9140GC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9140GC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9140GC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9140GC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9140GC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9140GC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9140GC Craniopharyngioma 2F9A Orphanet 54595 TPD-9140GC Cushing disease 5A70.0 Orphanet 96253 TPD-91666R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-91E982 Noonan syndrome LD2F.15 Orphanet 648 TPD-91E982 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-91E982 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-91E982 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-91E982 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-91E982 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-91E982 Lynch syndrome 2B90.Y Orphanet 144 TPD-91E982 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-91E982 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-91FITD Noonan syndrome LD2F.15 Orphanet 648 TPD-91FITD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-91FITD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-91FITD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-91FITD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-91FITD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-91FITD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-91FITD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-91FITD Craniopharyngioma 2F9A Orphanet 54595 TPD-91FITD Cushing disease 5A70.0 Orphanet 96253 TPD-91G6DX Kennedy disease 8B61.4 Orphanet 481 TPD-91G6DX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-91G6DX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-91G6DX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-91GNSF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-91HC5X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-91HC5X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-91HKSE Noonan syndrome LD2F.15 Orphanet 648 TPD-91HKSE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-91HKSE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-91HKSE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-91HKSE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-91HKSE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-91HKSE Lynch syndrome 2B90.Y Orphanet 144 TPD-91HKSE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-91HKSE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-91HQAP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-91HQAP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-91INE8 Noonan syndrome LD2F.15 Orphanet 648 TPD-91INE8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-91J599 Hirschsprung disease LB16.1 Orphanet 388 TPD-91J599 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-91Q6RU Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-91Q75A Noonan syndrome LD2F.15 Orphanet 648 TPD-91Q75A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-91Q75A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-91Q75A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-91Q75A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-91Q75A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-91Q75A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-91Q75A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-91Q75A Craniopharyngioma 2F9A Orphanet 54595 TPD-91Q75A Cushing disease 5A70.0 Orphanet 96253 TPD-91WM1M Familial melanoma QC61.Y Orphanet 618 TPD-91WM1M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-922BTG Noonan syndrome LD2F.15 Orphanet 648 TPD-922BTG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-922BTG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-922BTG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-922BTG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-922BTG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-922BTG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-922BTG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-922BTG Craniopharyngioma 2F9A Orphanet 54595 TPD-922BTG Cushing disease 5A70.0 Orphanet 96253 TPD-922X24 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-92307C Noonan syndrome LD2F.15 Orphanet 648 TPD-92307C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-92307C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-92307C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-92307C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-92307C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-92307C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-92307C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-92307C Craniopharyngioma 2F9A Orphanet 54595 TPD-92307C Cushing disease 5A70.0 Orphanet 96253 TPD-923A35 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-923A35 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-923A35 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-924GZK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-924O04 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-926WKD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-926WKD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-92CR53 Kennedy disease 8B61.4 Orphanet 481 TPD-92CR53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-92CR53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-92CR53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-92DGPY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-92DTWO Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-92DTWO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-92DTWO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-92DTWO Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-92DTWO Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-92DTWO Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-92DTWO Osteosarcoma 2B51 Orphanet 668 TPD-92DTWO Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-92DTWO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-92DTWO Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-92DTWO Small cell lung cancer 2C25.1 Orphanet 70573 TPD-92DTWO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-92DTWO Cushing disease 5A70.0 Orphanet 96253 TPD-92DTWO Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-92DTWO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-92F805 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-92F805 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-92F805 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-92GAVD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-92GEH3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-92GEH3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-92GEH3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-92GEH3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-92GL36 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-92GL36 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-92GL36 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-92GL36 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-92GWMF Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-92ILM9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-92ILM9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-92KFFB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-92KFFB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-92KFFB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-92KFFB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-92KLCB Kennedy disease 8B61.4 Orphanet 481 TPD-92KLCB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-92KLCB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-92KLCB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-92MVC8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-92MVC8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-92MW4Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-92MW4Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-92N4H7 Noonan syndrome LD2F.15 Orphanet 648 TPD-92N4H7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-92N4H7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-92N4H7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-92N4H7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-92N4H7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-92N4H7 Lynch syndrome 2B90.Y Orphanet 144 TPD-92N4H7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-92N4H7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-92PW3H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-92QMGD Kennedy disease 8B61.4 Orphanet 481 TPD-92QMGD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-92QMGD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-92QMGD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-92R0IE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-92R0IE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-92R0IE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-92R0IE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-92RP3M Noonan syndrome LD2F.15 Orphanet 648 TPD-92RP3M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-92RP3M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-92RP3M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-92RP3M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-92RP3M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-92RP3M Lynch syndrome 2B90.Y Orphanet 144 TPD-92RP3M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-92RP3M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-92ULE7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-92ULE7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-92W2F5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-92YPYV Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-932O6B Noonan syndrome LD2F.15 Orphanet 648 TPD-932O6B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-932O6B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-932O6B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-932O6B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-932O6B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-932O6B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-932O6B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-932O6B Craniopharyngioma 2F9A Orphanet 54595 TPD-932O6B Cushing disease 5A70.0 Orphanet 96253 TPD-933Q8D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-93414Z Kennedy disease 8B61.4 Orphanet 481 TPD-93414Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-93414Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-93414Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-934CHS Kennedy disease 8B61.4 Orphanet 481 TPD-934CHS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-934CHS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-934CHS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-935WJU Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-937IEL Kennedy disease 8B61.4 Orphanet 481 TPD-937IEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-937IEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-937IEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-937LRU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-93803S Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-93803S Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-93803S Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-93803S Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-93803S Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-93803S Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-93803S Semantic dementia 6D83 Orphanet 100069 TPD-93803S Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-938WI9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-938WI9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-938WI9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-938WI9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-939VPQ Kennedy disease 8B61.4 Orphanet 481 TPD-939VPQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-939VPQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-939VPQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-93BUB0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-93BUB0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-93BUB0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-93BUB0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-93BUB0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-93BUB0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-93BUB0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-93BUB0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-93BUB0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-93BYGC Kennedy disease 8B61.4 Orphanet 481 TPD-93BYGC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-93BYGC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-93BYGC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-93C97G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-93FDW3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-93FDW3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-93FDW3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-93I6RM Noonan syndrome LD2F.15 Orphanet 648 TPD-93I6RM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-93I6RM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-93I6RM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-93I6RM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-93I6RM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-93I6RM Lynch syndrome 2B90.Y Orphanet 144 TPD-93I6RM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-93I6RM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-93JAGZ Kennedy disease 8B61.4 Orphanet 481 TPD-93JAGZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-93JAGZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-93JAGZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-93L3XW Noonan syndrome LD2F.15 Orphanet 648 TPD-93L3XW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-93L3XW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-93L3XW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-93L3XW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-93L3XW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-93L3XW Lynch syndrome 2B90.Y Orphanet 144 TPD-93L3XW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-93L3XW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-93L5UZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-93L5UZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-93L5UZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-93L5UZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-93NZUN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-93OD2F Noonan syndrome LD2F.15 Orphanet 648 TPD-93OD2F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-93OD2F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-93OD2F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-93OD2F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-93OD2F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-93OD2F Lynch syndrome 2B90.Y Orphanet 144 TPD-93OD2F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-93OD2F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-93OJIO Kennedy disease 8B61.4 Orphanet 481 TPD-93OJIO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-93OJIO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-93OJIO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-93RBJ1 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-93W038 Noonan syndrome LD2F.15 Orphanet 648 TPD-93W038 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-93W038 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-93W038 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-93W038 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-93W038 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-93W038 Lynch syndrome 2B90.Y Orphanet 144 TPD-93W038 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-93W038 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-93XZYX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-93XZYX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-93XZYX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-93YRBZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-940ADT Noonan syndrome LD2F.15 Orphanet 648 TPD-940ADT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-940ADT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-940ADT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-940ADT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-940ADT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-940ADT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-940ADT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-940ADT Craniopharyngioma 2F9A Orphanet 54595 TPD-940ADT Cushing disease 5A70.0 Orphanet 96253 TPD-940T5Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-940T5Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-940T5Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9413RY Familial melanoma QC61.Y Orphanet 618 TPD-9413RY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-943K7N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-944K1W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-944K1W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-944K1W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-944K1W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9455K3 Noonan syndrome LD2F.15 Orphanet 648 TPD-9455K3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9455K3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9455K3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9455K3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9455K3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9455K3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9455K3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9455K3 Craniopharyngioma 2F9A Orphanet 54595 TPD-9455K3 Cushing disease 5A70.0 Orphanet 96253 TPD-9470CY Weaver syndrome LD2C Orphanet 3447 TPD-94750V Noonan syndrome LD2F.15 Orphanet 648 TPD-94750V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-94750V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-94750V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-94750V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-94750V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-94750V Lynch syndrome 2B90.Y Orphanet 144 TPD-94750V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-94750V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-94BGAP Noonan syndrome LD2F.15 Orphanet 648 TPD-94BGAP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-94BGAP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-94BGAP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-94BGAP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-94BGAP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-94BGAP Lynch syndrome 2B90.Y Orphanet 144 TPD-94BGAP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-94BGAP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-94F521 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-94FIQD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-94FIQD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-94FPX6 Kennedy disease 8B61.4 Orphanet 481 TPD-94FPX6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-94FPX6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-94FPX6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-94FW54 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-94FW54 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-94FW54 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-94FW54 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-94I2K5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-94I2K5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-94I2K5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-94I2K5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-94ICBI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-94ICBI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-94JQ23 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-94KQNH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-94KQNH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-94LDDS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-94LDDS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-94LRQ3 Kennedy disease 8B61.4 Orphanet 481 TPD-94LRQ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-94LRQ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-94LRQ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-94PYBM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-94PYBM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-94PYBM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-94PYUC Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-94RRGV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-94RRGV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-94UZOJ Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-94UZOJ Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-94UZOJ Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-94UZOJ Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-94UZOJ Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-94W7AR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-94W7AR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-94WOCI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-94WOCI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-94XNRL Kennedy disease 8B61.4 Orphanet 481 TPD-94XNRL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-94XNRL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-94XNRL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-954WHX Noonan syndrome LD2F.15 Orphanet 648 TPD-954WHX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 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99361 TPD-958L22 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-958UKQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-95A80P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-95AJZT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-95K8Y7 Noonan syndrome LD2F.15 Orphanet 648 TPD-95K8Y7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-95K8Y7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-95K8Y7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-95K8Y7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-95K8Y7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-95K8Y7 Lynch syndrome 2B90.Y Orphanet 144 TPD-95K8Y7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-95K8Y7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-95M21L Familial melanoma QC61.Y Orphanet 618 TPD-95M21L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-95ME0I Noonan syndrome LD2F.15 Orphanet 648 TPD-95ME0I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-95ME0I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-95ME0I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-95ME0I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-95ME0I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-95ME0I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-95ME0I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-95ME0I Craniopharyngioma 2F9A Orphanet 54595 TPD-95ME0I Cushing disease 5A70.0 Orphanet 96253 TPD-95O9NI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-95P9W4 Noonan syndrome LD2F.15 Orphanet 648 TPD-95P9W4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-95P9W4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-95P9W4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-95P9W4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-95P9W4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-95P9W4 Lynch syndrome 2B90.Y Orphanet 144 TPD-95P9W4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-95P9W4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-95PYGN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-95RXV9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-95XZDM Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-95XZDM CINCA syndrome 4A60.1 Orphanet 1451 TPD-95XZDM Familial cold urticaria 4A60.1 Orphanet 47045 TPD-960N9N Noonan syndrome LD2F.15 Orphanet 648 TPD-960N9N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-960N9N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-960N9N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-960N9N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-960N9N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-960N9N Lynch syndrome 2B90.Y Orphanet 144 TPD-960N9N 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4A01.1Y Orphanet 317473 TPD-96AM6B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-96AM6B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-96AM6B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-96ASB2 Kennedy disease 8B61.4 Orphanet 481 TPD-96ASB2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-96ASB2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-96ASB2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-96DWXE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-96F648 Noonan syndrome LD2F.15 Orphanet 648 TPD-96F648 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-96F648 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-96F648 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-96F648 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-96F648 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-96F648 Lynch syndrome 2B90.Y Orphanet 144 TPD-96F648 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-96F648 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-96FY3D Noonan syndrome LD2F.15 Orphanet 648 TPD-96FY3D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-96FY3D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-96FY3D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-96FY3D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-96FY3D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-96FY3D Lynch syndrome 2B90.Y Orphanet 144 TPD-96FY3D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-96FY3D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-96GHDC Noonan syndrome LD2F.15 Orphanet 648 TPD-96GHDC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-96GHDC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-96GHDC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-96GHDC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-96GHDC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-96GHDC Lynch syndrome 2B90.Y Orphanet 144 TPD-96GHDC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-96GHDC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-96HXWL Noonan syndrome LD2F.15 Orphanet 648 TPD-96HXWL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-96HXWL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-96HXWL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-96HXWL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-96HXWL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-96HXWL Lynch syndrome 2B90.Y Orphanet 144 TPD-96HXWL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-96HXWL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-96I27S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-96I27S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-96MJNA Kennedy disease 8B61.4 Orphanet 481 TPD-96MJNA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-96MJNA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-96MJNA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-96O8B4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-96PY1Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-96U28D Familial melanoma QC61.Y Orphanet 618 TPD-96U28D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-96W0DK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-96W0DK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-96W0DK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-96YDP9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-96YDP9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-96ZT5D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9704T1 Noonan syndrome LD2F.15 Orphanet 648 TPD-9704T1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9704T1 Cardiofaciocutaneous 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LD2F.15 Orphanet 648 TPD-975JW5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-975JW5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-975JW5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-975JW5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-975JW5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-975JW5 Lynch syndrome 2B90.Y Orphanet 144 TPD-975JW5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-975JW5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-976DCK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-976DCK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-979398 Kennedy disease 8B61.4 Orphanet 481 TPD-979398 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-979398 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-979398 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-979K6A Noonan syndrome LD2F.15 Orphanet 648 TPD-979K6A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-979K6A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-979K6A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-979K6A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-979K6A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-979K6A Lynch syndrome 2B90.Y Orphanet 144 TPD-979K6A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-979K6A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-97AD59 Kennedy disease 8B61.4 Orphanet 481 TPD-97AD59 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-97AD59 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-97AD59 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-97BVOS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-97BVOS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-97BVOS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-97BVOS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-97H4E2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-97H4E2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-97J4YJ Kennedy disease 8B61.4 Orphanet 481 TPD-97J4YJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-97J4YJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-97J4YJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-97J7SI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-97JLFR Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-97JSY2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-97PXVK Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-97PXVK Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-97SYC6 Kennedy disease 8B61.4 Orphanet 481 TPD-97SYC6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-97SYC6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-97SYC6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-97ULSA Kennedy disease 8B61.4 Orphanet 481 TPD-97ULSA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-97ULSA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-97ULSA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-97UOYL Kennedy disease 8B61.4 Orphanet 481 TPD-97UOYL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-97UOYL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-97UOYL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-97ZB9U Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-980U9T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-980U9T Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-980U9T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-98323L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-98323L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-98323L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-98430N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-98430N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-98430N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-98430N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-98430N Neuroblastoma 2A00.11 Orphanet 635 TPD-98430N Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-98430N ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-98430N ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-98430N Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-986BZU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-986BZU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-986BZU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-987WK0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-987WK0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-988EH4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-98A4ZW Noonan syndrome LD2F.15 Orphanet 648 TPD-98A4ZW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-98A4ZW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-98A4ZW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-98A4ZW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-98A4ZW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-98A4ZW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-98A4ZW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-98A4ZW Craniopharyngioma 2F9A Orphanet 54595 TPD-98A4ZW Cushing disease 5A70.0 Orphanet 96253 TPD-98AXB2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-98BV9X Noonan syndrome LD2F.15 Orphanet 648 TPD-98BV9X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-98BV9X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-98BV9X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-98BV9X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-98BV9X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-98BV9X Lynch syndrome 2B90.Y Orphanet 144 TPD-98BV9X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-98BV9X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-98CDJA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-98GCGP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-98GCGP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-98GCGP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-98GCGP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-98GCGP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-98GCGP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-98GCGP Semantic dementia 6D83 Orphanet 100069 TPD-98GCGP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-98HJSD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-98HJSD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-98HJSD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-98HJSD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-98JSJO Kennedy disease 8B61.4 Orphanet 481 TPD-98JSJO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-98JSJO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-98JSJO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-98O5NW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-98O5NW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-98O5NW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-98O5NW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-98O5NW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-98O5NW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-98O5NW Semantic dementia 6D83 Orphanet 100069 TPD-98O5NW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-98OM8S Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-98QP6N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-98QP6N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-98TBS3 Noonan syndrome LD2F.15 Orphanet 648 TPD-98TBS3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-98TBS3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-98TBS3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-98TBS3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-98TBS3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-98TBS3 Lynch syndrome 2B90.Y Orphanet 144 TPD-98TBS3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-98TBS3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-98WXEQ Weaver syndrome LD2C Orphanet 3447 TPD-98XZ5Z CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9906JT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9925SQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9925SQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9925SQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-999IXQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-999IXQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-999IXQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-99C2QX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-99C2QX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-99FFZT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-99FFZT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-99FFZT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-99IJ35 Kennedy disease 8B61.4 Orphanet 481 TPD-99IJ35 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-99IJ35 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-99IJ35 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-99IZGE Burkitt lymphoma XH4KA9 Orphanet 543 TPD-99IZGE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-99IZGE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-99IZNZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-99IZNZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-99IZNZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-99IZNZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-99JX7A Kennedy disease 8B61.4 Orphanet 481 TPD-99JX7A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-99JX7A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-99JX7A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-99K1Z0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-99OHQG Noonan syndrome LD2F.15 Orphanet 648 TPD-99OHQG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-99OHQG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-99OHQG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-99OHQG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-99OHQG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-99OHQG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-99OHQG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-99OHQG Craniopharyngioma 2F9A Orphanet 54595 TPD-99OHQG Cushing disease 5A70.0 Orphanet 96253 TPD-99QR2F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-99QR2F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-99QR2F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-99QR2F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-99SDZA Kennedy disease 8B61.4 Orphanet 481 TPD-99SDZA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-99SDZA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-99SDZA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-99WQ2W Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9A2PEV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9A2PEV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9A2PEV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9A2PEV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9A2ZXJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9A3847 Kennedy disease 8B61.4 Orphanet 481 TPD-9A3847 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9A3847 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9A3847 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9A79SY Noonan syndrome LD2F.15 Orphanet 648 TPD-9A79SY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9A79SY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9A79SY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9A79SY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9A79SY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9A79SY Lynch syndrome 2B90.Y Orphanet 144 TPD-9A79SY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9A79SY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9A8Y3S Familial melanoma QC61.Y Orphanet 618 TPD-9A8Y3S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9AFD1M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9AFD1M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9AFD1M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9AFH8D Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-9AFH8D Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-9AGP2S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9AH9MK Noonan syndrome LD2F.15 Orphanet 648 TPD-9AH9MK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9AH9MK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9AH9MK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9AH9MK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9AH9MK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9AH9MK Lynch syndrome 2B90.Y Orphanet 144 TPD-9AH9MK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9AH9MK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9AKOEV Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-9AKOEV MODY 5A13.6 Orphanet 552 TPD-9AKOEV Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-9AKOEV Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-9AOOO4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9AOOO4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9AOOO4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9AOOO4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9AOOO4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9AOOO4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9AOOO4 Semantic dementia 6D83 Orphanet 100069 TPD-9AOOO4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9ARPMC Noonan syndrome LD2F.15 Orphanet 648 TPD-9ARPMC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9ARPMC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9ARPMC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9ARPMC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9ARPMC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9ARPMC Lynch syndrome 2B90.Y Orphanet 144 TPD-9ARPMC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9ARPMC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9ARV9E Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-9AVKXU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9AVXZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-9AVXZ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9AVXZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9AVXZ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9AVXZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9AVXZ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9AVXZ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-9AVXZ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9AVXZ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9AXXSF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9AXXSF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9AY45I Noonan syndrome LD2F.15 Orphanet 648 TPD-9AY45I Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-9AYZGH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9AYZGH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9AYZGH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9B0HNK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9B6DM4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9B6DM4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9B6DM4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9B6DM4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9B7DBQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9B7OKR Kennedy disease 8B61.4 Orphanet 481 TPD-9B7OKR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9B7OKR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9B7OKR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9B80W1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9B8D5Q Kennedy disease 8B61.4 Orphanet 481 TPD-9B8D5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9B8D5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9B8D5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9B9YA4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9B9YA4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9BCCJH Noonan syndrome LD2F.15 Orphanet 648 TPD-9BCCJH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9BCCJH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9BCCJH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9BCCJH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9BCCJH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9BCCJH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9BCCJH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9BCCJH Craniopharyngioma 2F9A Orphanet 54595 TPD-9BCCJH Cushing disease 5A70.0 Orphanet 96253 TPD-9BCNAT Familial melanoma QC61.Y Orphanet 618 TPD-9BCNAT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9BF5GR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9BF5GR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9BF5GR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9BF5GR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9BILL7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9BILL7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9BILL7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9BJ4UP Kennedy disease 8B61.4 Orphanet 481 TPD-9BJ4UP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9BJ4UP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9BJ4UP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9BQ0UC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9BQ0UC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9BQ0UC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9BRQVG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9BRQVG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9BSD54 Kennedy disease 8B61.4 Orphanet 481 TPD-9BSD54 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9BSD54 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9BSD54 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9BUITD Noonan syndrome LD2F.15 Orphanet 648 TPD-9BUITD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9BUITD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9BUITD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9BUITD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9BUITD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9BUITD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9BUITD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9BUITD Craniopharyngioma 2F9A Orphanet 54595 TPD-9BUITD Cushing disease 5A70.0 Orphanet 96253 TPD-9BUNRP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9BUNRP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9BUNRP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9BY52A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9C0CT5 Kennedy disease 8B61.4 Orphanet 481 TPD-9C0CT5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9C0CT5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9C0CT5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9C0JG6 Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-9C1CH2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9C1CH2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9CAD06 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9CAD06 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9CAD06 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9CBLBF Kennedy disease 8B61.4 Orphanet 481 TPD-9CBLBF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9CBLBF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9CBLBF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9CGZCY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9CHE9Z CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9CIIYI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9CIIYI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9CIIYI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9CIIYI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9CJ6D4 Kennedy disease 8B61.4 Orphanet 481 TPD-9CJ6D4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9CJ6D4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9CJ6D4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9CK8L8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9CO2CY Kennedy disease 8B61.4 Orphanet 481 TPD-9CO2CY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9CO2CY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9CO2CY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9CRPUN Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9CRPUN Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9CTUH5 Noonan syndrome LD2F.15 Orphanet 648 TPD-9CTUH5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9CTUH5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9CTUH5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9CTUH5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9CTUH5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9CTUH5 Lynch syndrome 2B90.Y Orphanet 144 TPD-9CTUH5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9CTUH5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9CWZDL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9CX3Z7 Noonan syndrome LD2F.15 Orphanet 648 TPD-9CX3Z7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9CX3Z7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9CX3Z7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9CX3Z7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9CX3Z7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9CX3Z7 Lynch syndrome 2B90.Y Orphanet 144 TPD-9CX3Z7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9CX3Z7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9CZ0ER Familial melanoma QC61.Y Orphanet 618 TPD-9CZ0ER Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9D2ZZ5 Kennedy disease 8B61.4 Orphanet 481 TPD-9D2ZZ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9D2ZZ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9D2ZZ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9D8LB2 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9D8LB2 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9DB8X7 Kennedy disease 8B61.4 Orphanet 481 TPD-9DB8X7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9DB8X7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9DB8X7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9DCR6E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9DD1TR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9DDSCK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9DDSCK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9DDSCK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9DDSCK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9DJGI7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9DJGI7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9DJGI7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9DJGI7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9DLJ9V Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9DLJ9V Wilson-Turner syndrome LD29 Orphanet 3459 TPD-9DLZ71 Kennedy disease 8B61.4 Orphanet 481 TPD-9DLZ71 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9DLZ71 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9DLZ71 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9DPMHD Kennedy disease 8B61.4 Orphanet 481 TPD-9DPMHD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9DPMHD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9DPMHD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9DPNB1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9DSXA7 Noonan syndrome LD2F.15 Orphanet 648 TPD-9DSXA7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9DSXA7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9DSXA7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9DSXA7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9DSXA7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9DSXA7 Lynch syndrome 2B90.Y Orphanet 144 TPD-9DSXA7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9DSXA7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9DXNPG Kennedy disease 8B61.4 Orphanet 481 TPD-9DXNPG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9DXNPG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9DXNPG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9DZLN0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9DZLN0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9DZLN0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9E3T9O CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9E4OQN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9E7IW8 Familial melanoma QC61.Y Orphanet 618 TPD-9E7IW8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9E87TE Kennedy disease 8B61.4 Orphanet 481 TPD-9E87TE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9E87TE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9E87TE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9EAFH4 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9EAFH4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9EAFH4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9EAPMG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9EAPMG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9EAPMG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9EBNQV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9EBNQV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9EBPOH Kennedy disease 8B61.4 Orphanet 481 TPD-9EBPOH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9EBPOH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9EBPOH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9ECK11 Familial melanoma QC61.Y Orphanet 618 TPD-9ECK11 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9EM6AI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9EM6AI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9ET03F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9ET03F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9ET03F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9ET03F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9ET03F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9ET03F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9ET03F Semantic dementia 6D83 Orphanet 100069 TPD-9ET03F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9EUCF1 Achondroplasia LD24.00 Orphanet 15 TPD-9EUCF1 Hypochondroplasia LD24.01 Orphanet 429 TPD-9EUCF1 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-9EUCF1 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-9EUCF1 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-9EUCF1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9EUCF1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9EUCF1 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-9EUCF1 Muenke syndrome LD24.GY Orphanet 53271 TPD-9EUCF1 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-9EUCF1 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-9EUCF1 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-9EVMN8 Kennedy disease 8B61.4 Orphanet 481 TPD-9EVMN8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9EVMN8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9EVMN8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9EY9PO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9EY9PO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9EYBL3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9EYFWJ Noonan syndrome LD2F.15 Orphanet 648 TPD-9EYFWJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9EYFWJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9EYFWJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9EYFWJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9EYFWJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9EYFWJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9EYFWJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9EYFWJ Craniopharyngioma 2F9A Orphanet 54595 TPD-9EYFWJ Cushing disease 5A70.0 Orphanet 96253 TPD-9EZ7S3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9EZ7S3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9EZ8SU Noonan syndrome LD2F.15 Orphanet 648 TPD-9EZ8SU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9EZ8SU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9EZ8SU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9EZ8SU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9EZ8SU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9EZ8SU Lynch syndrome 2B90.Y Orphanet 144 TPD-9EZ8SU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9EZ8SU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9F2GIG Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-9F4X72 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9F4X72 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9F6541 Noonan syndrome LD2F.15 Orphanet 648 TPD-9F6541 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9F6541 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9F6541 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9F6541 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9F6541 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9F6541 Lynch syndrome 2B90.Y Orphanet 144 TPD-9F6541 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9F6541 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9F83AN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9F83AN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9F83AN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9F83AN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9FCDF5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9FCDF5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9FCDF5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9FCDF5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9FCDF5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9FCDF5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9FCDF5 Semantic dementia 6D83 Orphanet 100069 TPD-9FCDF5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9FFMGU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9FFMGU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9FFMGU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9FFMGU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9FILZ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-9FILZ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9FILZ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9FILZ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9FILZ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9FILZ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9FILZ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-9FILZ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9FILZ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9FIPMD Kennedy disease 8B61.4 Orphanet 481 TPD-9FIPMD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9FIPMD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9FIPMD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9FLRR7 Kennedy disease 8B61.4 Orphanet 481 TPD-9FLRR7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9FLRR7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9FLRR7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9FR8LB Familial melanoma QC61.Y Orphanet 618 TPD-9FR8LB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9FRAFZ Noonan syndrome LD2F.15 Orphanet 648 TPD-9FRAFZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9FRAFZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9FRAFZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9FRAFZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9FRAFZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9FRAFZ Lynch syndrome 2B90.Y Orphanet 144 TPD-9FRAFZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9FRAFZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9FS2K7 Noonan syndrome LD2F.15 Orphanet 648 TPD-9FS2K7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9FS2K7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9FS2K7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9FS2K7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9FS2K7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9FS2K7 Lynch syndrome 2B90.Y Orphanet 144 TPD-9FS2K7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9FS2K7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9FSK8R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9FSK8R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9FSVK6 Noonan syndrome LD2F.15 Orphanet 648 TPD-9FSVK6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9FSVK6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9FSVK6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9FSVK6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9FSVK6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9FSVK6 Lynch syndrome 2B90.Y Orphanet 144 TPD-9FSVK6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9FSVK6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9FTAWY Noonan syndrome LD2F.15 Orphanet 648 TPD-9FTAWY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-9FVYQI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9FX2UX Kennedy disease 8B61.4 Orphanet 481 TPD-9FX2UX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9FX2UX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9FX2UX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9FY27U Kennedy disease 8B61.4 Orphanet 481 TPD-9FY27U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9FY27U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9FY27U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9G0E3H Noonan syndrome LD2F.15 Orphanet 648 TPD-9G0E3H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9G0E3H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9G0E3H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9G0E3H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9G0E3H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9G0E3H Lynch syndrome 2B90.Y Orphanet 144 TPD-9G0E3H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9G0E3H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9G1R0T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9G1R0T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9G3ASD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9G50WG Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9G50WG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9G50WG Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9G5LYB Noonan syndrome LD2F.15 Orphanet 648 TPD-9G5LYB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9G5LYB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9G5LYB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9G5LYB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9G5LYB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9G5LYB Lynch syndrome 2B90.Y Orphanet 144 TPD-9G5LYB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9G5LYB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9G693K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9G693K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9G693K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9G7O4H Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9G7O4H Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9G8VVS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9G8VVS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9GA2W9 Noonan syndrome LD2F.15 Orphanet 648 TPD-9GA2W9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9GA2W9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9GA2W9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9GA2W9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9GA2W9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9GA2W9 Lynch syndrome 2B90.Y Orphanet 144 TPD-9GA2W9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9GA2W9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9GGV8E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9GGV8E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9GGV8E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9GIKQV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9GIKQV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9GIKQV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9GPKQ7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9GTFDM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9GTFDM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9GTFDM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9GTFDM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9GTQXI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9GTUEB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9GTUEB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9GTUEB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9GUWGH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-9GVRZU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9GXK66 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9GXKML Noonan syndrome LD2F.15 Orphanet 648 TPD-9GXKML Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9GXKML Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9GXKML Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9GXKML Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9GXKML Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9GXKML Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9GXKML Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9GXKML Craniopharyngioma 2F9A Orphanet 54595 TPD-9GXKML Cushing disease 5A70.0 Orphanet 96253 TPD-9GXUIB Familial melanoma QC61.Y Orphanet 618 TPD-9GXUIB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9H0796 Kennedy disease 8B61.4 Orphanet 481 TPD-9H0796 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9H0796 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9H0796 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9H0CMR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9H0VIN Achondroplasia LD24.00 Orphanet 15 TPD-9H0VIN Hypochondroplasia LD24.01 Orphanet 429 TPD-9H0VIN Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-9H0VIN Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-9H0VIN Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-9H0VIN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9H0VIN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9H0VIN Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-9H0VIN Muenke syndrome LD24.GY Orphanet 53271 TPD-9H0VIN Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-9H0VIN Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-9H0VIN Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-9H1S6Q Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9H1S6Q Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9H1S6Q Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9H1S6Q Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9H1S6Q Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9H1S6Q Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9H1S6Q Semantic dementia 6D83 Orphanet 100069 TPD-9H1S6Q Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9H32M1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9H32M1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9H5EF0 Kennedy disease 8B61.4 Orphanet 481 TPD-9H5EF0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9H5EF0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9H5EF0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9HBJG3 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-9HCWC3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9HCWC3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9HCWC3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9HCWC3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9HCWC3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9HCWC3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9HCWC3 Semantic dementia 6D83 Orphanet 100069 TPD-9HCWC3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9HJ9DU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9HJ9DU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9HL2C4 Familial melanoma QC61.Y Orphanet 618 TPD-9HL2C4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9HLXMV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9HLXMV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9HNARD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9HNARD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9HNARD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9HP4UC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9HPNJ4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9HQUUA Noonan syndrome LD2F.15 Orphanet 648 TPD-9HQUUA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9HQUUA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9HQUUA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9HQUUA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9HQUUA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9HQUUA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9HQUUA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9HQUUA Craniopharyngioma 2F9A Orphanet 54595 TPD-9HQUUA Cushing disease 5A70.0 Orphanet 96253 TPD-9HUKRO Kennedy disease 8B61.4 Orphanet 481 TPD-9HUKRO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9HUKRO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9HUKRO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9HY32I Kennedy disease 8B61.4 Orphanet 481 TPD-9HY32I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9HY32I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9HY32I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9HYF0L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9HYF0L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9HYF0L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9HYF0L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9I3GLF Noonan syndrome LD2F.15 Orphanet 648 TPD-9I3GLF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9I3GLF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9I3GLF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9I3GLF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9I3GLF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9I3GLF Lynch syndrome 2B90.Y Orphanet 144 TPD-9I3GLF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9I3GLF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9I4H3Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9I7HKG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9I7HKG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9I89OL Kennedy disease 8B61.4 Orphanet 481 TPD-9I89OL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9I89OL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9I89OL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9I8G6F Familial melanoma QC61.Y Orphanet 618 TPD-9I8G6F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9IB0OO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9ICHIR Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9ICHIR Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9ICHIR Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9ICHIR Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9ICHIR Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9ICHIR Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9ICHIR Semantic dementia 6D83 Orphanet 100069 TPD-9ICHIR Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9IDCJZ Kennedy disease 8B61.4 Orphanet 481 TPD-9IDCJZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9IDCJZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9IDCJZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9IFP6U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9IFP6U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9IICDJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9IJJV7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9IOWC6 Noonan syndrome LD2F.15 Orphanet 648 TPD-9IOWC6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-9IREMU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9IREMU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9J0XOF Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-9J0XOF Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-9J0XOF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9J0XOF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9J0XOF Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-9J0XOF Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-9J3XIC Familial melanoma QC61.Y Orphanet 618 TPD-9J3XIC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9J6MHQ Kennedy disease 8B61.4 Orphanet 481 TPD-9J6MHQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9J6MHQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9J6MHQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9J77DO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9J77DO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9J9F83 Kennedy disease 8B61.4 Orphanet 481 TPD-9J9F83 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9J9F83 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9J9F83 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9JAGWU Noonan syndrome LD2F.15 Orphanet 648 TPD-9JAGWU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9JAGWU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9JAGWU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9JAGWU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9JAGWU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9JAGWU Lynch syndrome 2B90.Y Orphanet 144 TPD-9JAGWU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9JAGWU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9JCXP6 Noonan syndrome LD2F.15 Orphanet 648 TPD-9JCXP6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-9JCYWN Noonan syndrome LD2F.15 Orphanet 648 TPD-9JCYWN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9JCYWN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9JCYWN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9JCYWN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9JCYWN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9JCYWN Lynch syndrome 2B90.Y Orphanet 144 TPD-9JCYWN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9JCYWN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9JD924 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9JD924 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9JGBUK Kennedy disease 8B61.4 Orphanet 481 TPD-9JGBUK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9JGBUK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9JGBUK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9JGZTI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9JGZTI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9JGZTI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9JP6XQ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-9JQN02 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9JQN02 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9JRNX4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9JRNX4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9JRNX4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9JRNX4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9JSBKN Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9JSBKN Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9JSNF4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9JSNF4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9JUTQL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9JWTV9 Noonan syndrome LD2F.15 Orphanet 648 TPD-9JWTV9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9JWTV9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9JWTV9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9JWTV9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9JWTV9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9JWTV9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9JWTV9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9JWTV9 Craniopharyngioma 2F9A Orphanet 54595 TPD-9JWTV9 Cushing disease 5A70.0 Orphanet 96253 TPD-9JXZ7S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9K1LMF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9K2JZB Kennedy disease 8B61.4 Orphanet 481 TPD-9K2JZB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9K2JZB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9K2JZB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9K3J9F Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9K72CI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9K72CI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9K72CI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9K72CI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9K80Y0 Kennedy disease 8B61.4 Orphanet 481 TPD-9K80Y0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9K80Y0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9K80Y0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9K946R Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-9K9BIS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9K9BIS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9KAPEC Noonan syndrome LD2F.15 Orphanet 648 TPD-9KAPEC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9KAPEC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9KAPEC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9KAPEC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9KAPEC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9KAPEC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9KAPEC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9KAPEC Craniopharyngioma 2F9A Orphanet 54595 TPD-9KAPEC Cushing disease 5A70.0 Orphanet 96253 TPD-9KCP54 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9KCP54 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9KCP54 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9KCP54 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9KGQXP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9KGQXP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9KK8VX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9KK8VX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9KNXCL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9KOY6I Kennedy disease 8B61.4 Orphanet 481 TPD-9KOY6I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9KOY6I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9KOY6I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9KQSH8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9KR0KL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9KTFRZ Papillary renal cell carcinoma 2C90.Y Orphanet 319298 TPD-9KTFRZ Hereditary papillary renal cell carcinoma 2C90.Y Orphanet 47044 TPD-9KTFRZ Rare autosomal recessive non-syndromic sensorineural deafness type DFNB AB50 Orphanet 90636 TPD-9KTNPT Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-9L0QTS Noonan syndrome LD2F.15 Orphanet 648 TPD-9L0QTS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9L0QTS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9L0QTS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9L0QTS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9L0QTS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9L0QTS Lynch syndrome 2B90.Y Orphanet 144 TPD-9L0QTS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9L0QTS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9L0TYI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9L0TYI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9L1GWD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9L1GWD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9L3Q5E Kennedy disease 8B61.4 Orphanet 481 TPD-9L3Q5E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9L3Q5E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9L3Q5E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9L41C3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9L48LU Kennedy disease 8B61.4 Orphanet 481 TPD-9L48LU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9L48LU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9L48LU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9L5A3Q Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-9L5A3Q Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-9L5A3Q Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-9L5A3Q Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-9L5A3Q Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-9L5A3Q Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-9L5A3Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9L5A3Q Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-9L5A3Q Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9L81AC Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9L81AC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9L81AC Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9L8I8I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9L8I8I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9L9W1I Noonan syndrome LD2F.15 Orphanet 648 TPD-9L9W1I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9L9W1I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9L9W1I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9L9W1I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9L9W1I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9L9W1I Lynch syndrome 2B90.Y Orphanet 144 TPD-9L9W1I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9L9W1I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9LDMCN Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-9LDMCN Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-9LGJ50 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9LGUO9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9LGUO9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9LJE6Y Kennedy disease 8B61.4 Orphanet 481 TPD-9LJE6Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9LJE6Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9LJE6Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9LN0BF Kennedy disease 8B61.4 Orphanet 481 TPD-9LN0BF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9LN0BF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9LN0BF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9LO9SP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9LO9SP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9LO9SP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9LO9SP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9LQZ1L Noonan syndrome LD2F.15 Orphanet 648 TPD-9LQZ1L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9LQZ1L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9LQZ1L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9LQZ1L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9LQZ1L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9LQZ1L Lynch syndrome 2B90.Y Orphanet 144 TPD-9LQZ1L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9LQZ1L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9LUXCO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9LUXCO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9LVPZG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9LVPZG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9LVPZG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9LWFFN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9LWFFN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9LWFFN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9LWFFN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9M0I9K Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9M1K4K CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9M2R8G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9M4EVY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9M4EVY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9M4EVY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9M4EVY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9M9CA3 Noonan syndrome LD2F.15 Orphanet 648 TPD-9M9CA3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9M9CA3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9M9CA3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9M9CA3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9M9CA3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9M9CA3 Lynch syndrome 2B90.Y Orphanet 144 TPD-9M9CA3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9M9CA3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9M9VI1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9MAQI1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9MAQI1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9MDK6V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9MDK6V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9MDK6V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9MDK6V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9MDN3M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9MDN3M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9MDN3M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9MFPJK Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9MFPJK Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9MGQOX Kennedy disease 8B61.4 Orphanet 481 TPD-9MGQOX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9MGQOX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9MGQOX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9MKUAV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9ML727 Kennedy disease 8B61.4 Orphanet 481 TPD-9ML727 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9ML727 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9ML727 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9MLTB2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9MLTB2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9MPCBR Kennedy disease 8B61.4 Orphanet 481 TPD-9MPCBR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9MPCBR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9MPCBR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9MSJLI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9MXOVM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9MXOVM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9MXOVM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9MXOVM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9MZSSM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9N4689 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9N4689 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9N4689 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9N4DVO Kennedy disease 8B61.4 Orphanet 481 TPD-9N4DVO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9N4DVO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9N4DVO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9N60HD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9N60HD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9NB1V8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9NB1V8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9NCTXB Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9NCTXB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9NDL04 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9NDT8Y Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9NDT8Y Wilson-Turner syndrome LD29 Orphanet 3459 TPD-9NFIP9 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9NFIP9 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9NFIP9 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9NFIP9 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9NFIP9 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9NFIP9 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9NFIP9 Semantic dementia 6D83 Orphanet 100069 TPD-9NFIP9 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9NFMPB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9NIV9W Kennedy disease 8B61.4 Orphanet 481 TPD-9NIV9W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9NIV9W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9NIV9W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9NQAAJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9NQAAJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9NQAAJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9NTGM2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9NTGM2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9NTGM2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9NUGQN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9NUGQN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9NUGQN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9NY1AW Kennedy disease 8B61.4 Orphanet 481 TPD-9NY1AW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9NY1AW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9NY1AW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9NYN3I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9NYN3I Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9O2HHK Familial melanoma QC61.Y Orphanet 618 TPD-9O2HHK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9O3JM8 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9O3JM8 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9O3PX1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9O3XYH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9O4S67 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9O4S67 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9O4S67 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9O5PO3 Noonan syndrome LD2F.15 Orphanet 648 TPD-9O5PO3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9O5PO3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9O5PO3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9O5PO3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9O5PO3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9O5PO3 Lynch syndrome 2B90.Y Orphanet 144 TPD-9O5PO3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9O5PO3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9O6O0M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9OEZJ0 Kennedy disease 8B61.4 Orphanet 481 TPD-9OEZJ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9OEZJ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9OEZJ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9OHBZG Kennedy disease 8B61.4 Orphanet 481 TPD-9OHBZG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9OHBZG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9OHBZG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9OOM53 Kennedy disease 8B61.4 Orphanet 481 TPD-9OOM53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9OOM53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9OOM53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9OPFBQ Noonan syndrome LD2F.15 Orphanet 648 TPD-9OPFBQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9OPFBQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9OPFBQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9OPFBQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9OPFBQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9OPFBQ Lynch syndrome 2B90.Y Orphanet 144 TPD-9OPFBQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9OPFBQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9OQC68 Kennedy disease 8B61.4 Orphanet 481 TPD-9OQC68 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9OQC68 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9OQC68 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9OTH6W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9OVXFK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9OVXFK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9OVXFK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9OVXFK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9OYPZ7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9OYPZ7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9OYPZ7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9P5LXL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9P5LXL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9P7IM0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9P8MA8 Familial melanoma QC61.Y Orphanet 618 TPD-9P8MA8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9PBZVB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9PBZVB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9PBZVB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9PD9L5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9PD9L5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9PD9L5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9PEZZ2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9PEZZ2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9PEZZ2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9PEZZ2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9PEZZ2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9PEZZ2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9PEZZ2 Semantic dementia 6D83 Orphanet 100069 TPD-9PEZZ2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9PI9IE Kennedy disease 8B61.4 Orphanet 481 TPD-9PI9IE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9PI9IE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9PI9IE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9PJ69C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9PJ69C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9PJ69C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9PKUDE Familial melanoma QC61.Y Orphanet 618 TPD-9PKUDE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9PMAQ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-9PMAQ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9PMAQ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9PMAQ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9PMAQ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9PMAQ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9PMAQ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-9PMAQ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9PMAQ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9PMRMT Kennedy disease 8B61.4 Orphanet 481 TPD-9PMRMT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9PMRMT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9PMRMT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9PN5DB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9PPEQC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9PS3S5 Kennedy disease 8B61.4 Orphanet 481 TPD-9PS3S5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9PS3S5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9PS3S5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9PSEP6 Familial melanoma QC61.Y Orphanet 618 TPD-9PSEP6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9PT7YC Familial melanoma QC61.Y Orphanet 618 TPD-9PT7YC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9PWPHI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9PWPHI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9PWPHI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9PWPHI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9Q1971 Familial melanoma QC61.Y Orphanet 618 TPD-9Q1971 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9Q2MZJ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-9Q2MZJ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-9Q8XWN Familial melanoma QC61.Y Orphanet 618 TPD-9Q8XWN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9QEZYK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9QEZYK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9QEZYK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9QEZYK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9QFC0O Achondroplasia LD24.00 Orphanet 15 TPD-9QFC0O Hypochondroplasia LD24.01 Orphanet 429 TPD-9QFC0O Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-9QFC0O Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-9QFC0O Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-9QFC0O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9QFC0O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9QFC0O Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-9QFC0O Muenke syndrome LD24.GY Orphanet 53271 TPD-9QFC0O Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-9QFC0O Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-9QFC0O Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-9QFEDL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9QG9WO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9QHK8V Noonan syndrome LD2F.15 Orphanet 648 TPD-9QHK8V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9QHK8V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9QHK8V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9QHK8V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9QHK8V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9QHK8V Lynch syndrome 2B90.Y Orphanet 144 TPD-9QHK8V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9QHK8V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9QNNIP Kennedy disease 8B61.4 Orphanet 481 TPD-9QNNIP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9QNNIP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9QNNIP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9QQ3JF Hirschsprung disease LB16.1 Orphanet 388 TPD-9QQ3JF Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-9QUZH0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9QYQ9A Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9QYQ9A Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9R17TL Noonan syndrome LD2F.15 Orphanet 648 TPD-9R17TL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9R17TL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9R17TL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9R17TL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9R17TL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9R17TL Lynch syndrome 2B90.Y Orphanet 144 TPD-9R17TL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9R17TL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9R2GNK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9R2GNK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9R2GNK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9R2GNK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9R58OE Kennedy disease 8B61.4 Orphanet 481 TPD-9R58OE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9R58OE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9R58OE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9R6DRC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9R6DRC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9R6DRC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9R7NGO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9RA3GW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9RA3GW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9RA3GW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9RE6TS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9RE6TS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9RE6TS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9RIE0D Kennedy disease 8B61.4 Orphanet 481 TPD-9RIE0D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9RIE0D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9RIE0D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9RIX0C Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-9RKUBO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9RLR2B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9RLR2B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9RM4FS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9RM4FS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9RMF8H Kennedy disease 8B61.4 Orphanet 481 TPD-9RMF8H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9RMF8H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9RMF8H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9RMFEE Kennedy disease 8B61.4 Orphanet 481 TPD-9RMFEE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9RMFEE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9RMFEE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9ROWSY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9ROWSY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9ROWSY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9ROWSY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9RPVP6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9RPVP6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9RPVP6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9RPVP6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9RRQH6 Kennedy disease 8B61.4 Orphanet 481 TPD-9RRQH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9RRQH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9RRQH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9RRUVZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9RRUVZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9RRUVZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9RRUVZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9RSZ0K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9RSZ0K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9RSZ0K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9RSZ0K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9RSZ0K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9RSZ0K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9RSZ0K Semantic dementia 6D83 Orphanet 100069 TPD-9RSZ0K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9RX3WV Kennedy disease 8B61.4 Orphanet 481 TPD-9RX3WV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9RX3WV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9RX3WV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9RXIXT Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-9RXIXT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9RXIXT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9RXIXT Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-9RXIXT Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-9RXIXT Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-9RXIXT Osteosarcoma 2B51 Orphanet 668 TPD-9RXIXT Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-9RXIXT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9RXIXT Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-9RXIXT Small cell lung cancer 2C25.1 Orphanet 70573 TPD-9RXIXT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9RXIXT Cushing disease 5A70.0 Orphanet 96253 TPD-9RXIXT Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-9RXIXT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9RZ5QK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9S18D8 Kennedy disease 8B61.4 Orphanet 481 TPD-9S18D8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9S18D8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9S18D8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9S2Y02 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9S4EIL Familial melanoma QC61.Y Orphanet 618 TPD-9S4EIL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9S7WJ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-9S7WJ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9S7WJ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9S7WJ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9S7WJ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9S7WJ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9S7WJ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-9S7WJ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9S7WJ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9SDW2K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9SDW2K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9SDW2K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9SDW2K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9SFN4Q CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9SGUB0 Familial melanoma QC61.Y Orphanet 618 TPD-9SGUB0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9SKI9M Noonan syndrome LD2F.15 Orphanet 648 TPD-9SKI9M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9SKI9M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9SKI9M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9SKI9M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9SKI9M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9SKI9M Lynch syndrome 2B90.Y Orphanet 144 TPD-9SKI9M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9SKI9M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9SMP5V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9SMP5V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9ST7C1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9ST7C1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9ST7C1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9STXLD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9SUIZL Familial melanoma QC61.Y Orphanet 618 TPD-9SUIZL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9SUMN1 Familial melanoma QC61.Y Orphanet 618 TPD-9SUMN1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9SUQ4D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9SXV4Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9SXV4Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9SXV4Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9T0OFW Noonan syndrome LD2F.15 Orphanet 648 TPD-9T0OFW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9T0OFW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9T0OFW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9T0OFW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9T0OFW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9T0OFW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9T0OFW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9T0OFW Craniopharyngioma 2F9A Orphanet 54595 TPD-9T0OFW Cushing disease 5A70.0 Orphanet 96253 TPD-9T20HL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9T20HL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9T20HL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9T20HL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9TA4U3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9TA4U3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9TBA9M Noonan syndrome LD2F.15 Orphanet 648 TPD-9TBA9M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9TBA9M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9TBA9M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9TBA9M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9TBA9M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9TBA9M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9TBA9M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9TBA9M Craniopharyngioma 2F9A Orphanet 54595 TPD-9TBA9M Cushing disease 5A70.0 Orphanet 96253 TPD-9TH4TX Familial melanoma QC61.Y Orphanet 618 TPD-9TH4TX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9THZ9N Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-9TJW35 Kennedy disease 8B61.4 Orphanet 481 TPD-9TJW35 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9TJW35 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9TJW35 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9TKRUC Kennedy disease 8B61.4 Orphanet 481 TPD-9TKRUC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9TKRUC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9TKRUC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9TOOGR Noonan syndrome LD2F.15 Orphanet 648 TPD-9TOOGR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9TOOGR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9TOOGR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9TOOGR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9TOOGR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9TOOGR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9TOOGR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9TOOGR Craniopharyngioma 2F9A Orphanet 54595 TPD-9TOOGR Cushing disease 5A70.0 Orphanet 96253 TPD-9TTUXC Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-9TY9ZE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9U0ZWE Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-9U31Q3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9U31Q3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9U31Q3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9U31Q3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9UCN1G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9UCN1G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9UCN1G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9UDHEL Kennedy disease 8B61.4 Orphanet 481 TPD-9UDHEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9UDHEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9UDHEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9UEK4R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9UFTSL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9UFTSL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9UHL2C Noonan syndrome LD2F.15 Orphanet 648 TPD-9UHL2C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9UHL2C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9UHL2C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9UHL2C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9UHL2C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9UHL2C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9UHL2C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9UHL2C Craniopharyngioma 2F9A Orphanet 54595 TPD-9UHL2C Cushing disease 5A70.0 Orphanet 96253 TPD-9UL8LB Kennedy disease 8B61.4 Orphanet 481 TPD-9UL8LB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9UL8LB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9UL8LB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9ULC6A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9ULC6A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9UOIDG Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-9UOIDG Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-9UOIDG Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-9UOIDG Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-9UOIDG Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-9UPN0G Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-9UR93T Noonan syndrome LD2F.15 Orphanet 648 TPD-9UR93T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9UR93T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9UR93T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9UR93T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9UR93T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9UR93T Lynch syndrome 2B90.Y Orphanet 144 TPD-9UR93T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9UR93T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9URKUN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9URKUN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9URKUN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9URKUN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9UTEHV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9UTEHV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9UTEHV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9UTEHV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9UV0FT Familial melanoma QC61.Y Orphanet 618 TPD-9UX07B Familial melanoma QC61.Y Orphanet 618 TPD-9UX07B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9UZWF5 Familial melanoma QC61.Y Orphanet 618 TPD-9UZWF5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9UZWUW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9UZWUW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9UZWUW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9UZWUW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9V04QY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9V04QY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9V04QY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9V0L8P Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-9V0L8P Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-9V2FTA Familial melanoma QC61.Y Orphanet 618 TPD-9V2FTA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9V8FWP Noonan syndrome LD2F.15 Orphanet 648 TPD-9V8FWP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9V8FWP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9V8FWP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9V8FWP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9V8FWP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9V8FWP Lynch syndrome 2B90.Y Orphanet 144 TPD-9V8FWP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9V8FWP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9V9LVZ Kennedy disease 8B61.4 Orphanet 481 TPD-9V9LVZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9V9LVZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9V9LVZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9VB911 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9VB911 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9VB911 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9VC144 Noonan syndrome LD2F.15 Orphanet 648 TPD-9VC144 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9VC144 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9VC144 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9VC144 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9VC144 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9VC144 Lynch syndrome 2B90.Y Orphanet 144 TPD-9VC144 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9VC144 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9VF2WB Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-9VJI38 Noonan syndrome LD2F.15 Orphanet 648 TPD-9VJI38 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9VJI38 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9VJI38 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9VJI38 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9VJI38 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9VJI38 Lynch syndrome 2B90.Y Orphanet 144 TPD-9VJI38 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9VJI38 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9VJOW7 Kennedy disease 8B61.4 Orphanet 481 TPD-9VJOW7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9VJOW7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9VJOW7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9VMKT0 Kennedy disease 8B61.4 Orphanet 481 TPD-9VMKT0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9VMKT0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9VMKT0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9VN333 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9VNSKA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-9VTWWV Noonan syndrome LD2F.15 Orphanet 648 TPD-9VTWWV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9VTWWV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9VTWWV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9VTWWV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9VTWWV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9VTWWV Lynch syndrome 2B90.Y Orphanet 144 TPD-9VTWWV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9VTWWV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9VUA4L Noonan syndrome LD2F.15 Orphanet 648 TPD-9VUA4L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9VUA4L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9VUA4L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9VUA4L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9VUA4L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9VUA4L Lynch syndrome 2B90.Y Orphanet 144 TPD-9VUA4L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9VUA4L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9VWF25 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9VWGU2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9W0GAL Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-9W2K2P Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-9W4NAP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-9W4NAP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-9W4NAP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-9W4NAP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-9W4NAP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-9W4NAP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-9W4NAP Semantic dementia 6D83 Orphanet 100069 TPD-9W4NAP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-9W67ME Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9W67ME Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9W67ME Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9W89ML Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9W89ML Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-9W9KJA Noonan syndrome LD2F.15 Orphanet 648 TPD-9W9KJA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9W9KJA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9W9KJA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9W9KJA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9W9KJA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9W9KJA Lynch syndrome 2B90.Y Orphanet 144 TPD-9W9KJA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9W9KJA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9WAK97 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9WAK97 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9WAK97 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-9WCQYT Noonan syndrome LD2F.15 Orphanet 648 TPD-9WCQYT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9WCQYT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9WCQYT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9WCQYT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9WCQYT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9WCQYT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9WCQYT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9WCQYT Craniopharyngioma 2F9A Orphanet 54595 TPD-9WCQYT Cushing disease 5A70.0 Orphanet 96253 TPD-9WCY61 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9WCY61 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9WCY61 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9WDXLM Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-9WI5CT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9WO22S Noonan syndrome LD2F.15 Orphanet 648 TPD-9WO22S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9WO22S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9WO22S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9WO22S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9WO22S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9WO22S Lynch syndrome 2B90.Y Orphanet 144 TPD-9WO22S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9WO22S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9WRNKR Noonan syndrome LD2F.15 Orphanet 648 TPD-9WRNKR Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-9WV5LZ Noonan syndrome LD2F.15 Orphanet 648 TPD-9WV5LZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9WV5LZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9WV5LZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9WV5LZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9WV5LZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9WV5LZ Lynch syndrome 2B90.Y Orphanet 144 TPD-9WV5LZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9WV5LZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9WXTDA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9WZMYB Kennedy disease 8B61.4 Orphanet 481 TPD-9WZMYB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9WZMYB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9WZMYB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9X0WWK Noonan syndrome LD2F.15 Orphanet 648 TPD-9X0WWK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9X0WWK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9X0WWK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9X0WWK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9X0WWK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9X0WWK Lynch syndrome 2B90.Y Orphanet 144 TPD-9X0WWK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9X0WWK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9X1YLZ Noonan syndrome LD2F.15 Orphanet 648 TPD-9X1YLZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9X1YLZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9X1YLZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9X1YLZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9X1YLZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9X1YLZ Lynch syndrome 2B90.Y Orphanet 144 TPD-9X1YLZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9X1YLZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9X1YSH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9X1YSH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9X1YSH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9X1YSH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9X7OSF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9XADFR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9XADFR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9XADFR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9XADFR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9XDF6B CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9XEVOB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-9XEVOB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-9XEVOB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-9XGKLV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9XJF14 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9XJF14 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9XK14G Noonan syndrome LD2F.15 Orphanet 648 TPD-9XK14G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9XK14G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9XK14G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9XK14G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9XK14G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9XK14G Lynch syndrome 2B90.Y Orphanet 144 TPD-9XK14G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9XK14G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9XRM9X Noonan syndrome LD2F.15 Orphanet 648 TPD-9XRM9X Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9XRM9X Metachondromatosis LD24.2Y Orphanet 2499 TPD-9XRM9X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9XSJ8Y Noonan syndrome LD2F.15 Orphanet 648 TPD-9XSJ8Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9XSJ8Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9XSJ8Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9XSJ8Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9XSJ8Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9XSJ8Y Lynch syndrome 2B90.Y Orphanet 144 TPD-9XSJ8Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9XSJ8Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9XSJGR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9XWN82 Kennedy disease 8B61.4 Orphanet 481 TPD-9XWN82 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9XWN82 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9XWN82 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9XZ6PN Familial melanoma QC61.Y Orphanet 618 TPD-9XZ6PN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9XZ7DG Kennedy disease 8B61.4 Orphanet 481 TPD-9XZ7DG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9XZ7DG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9XZ7DG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9XZON7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9XZON7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9XZON7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9XZON7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9Y1F3G Kennedy disease 8B61.4 Orphanet 481 TPD-9Y1F3G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9Y1F3G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9Y1F3G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9Y5SSM Kennedy disease 8B61.4 Orphanet 481 TPD-9Y5SSM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9Y5SSM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9Y5SSM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9Y73OH Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-9Y8KQ8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9Y8KQ8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9Y8KQ8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9YBGYT Kennedy disease 8B61.4 Orphanet 481 TPD-9YBGYT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9YBGYT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9YBGYT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9YBI4Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9YF1IU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9YF1IU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9YF1IU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9YF1IU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9YILXD Noonan syndrome LD2F.15 Orphanet 648 TPD-9YILXD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9YILXD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9YILXD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9YILXD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9YILXD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9YILXD Lynch syndrome 2B90.Y Orphanet 144 TPD-9YILXD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9YILXD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9YN2MS Noonan syndrome LD2F.15 Orphanet 648 TPD-9YN2MS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-9YN2MS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-9YN2MS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9YN2MS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9YN2MS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-9YN2MS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-9YN2MS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-9YN2MS Craniopharyngioma 2F9A Orphanet 54595 TPD-9YN2MS Cushing disease 5A70.0 Orphanet 96253 TPD-9YSPE5 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-9YV0H8 Kennedy disease 8B61.4 Orphanet 481 TPD-9YV0H8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9YV0H8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9YV0H8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9YV8U7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-9YW6W8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9YW6W8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9YW8EN Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-9YW8EN STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-9YW8EN Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-9YW8EN Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-9YW8EN T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-9YW8EN Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-9YW8EN Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-9YX9V9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9YX9V9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9YX9V9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9YX9V9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-9Z4J62 Familial melanoma QC61.Y Orphanet 618 TPD-9Z4J62 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9Z79WK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9Z79WK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9Z7SSV Familial melanoma QC61.Y Orphanet 618 TPD-9Z7SSV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-9ZE1Z3 Noonan syndrome LD2F.15 Orphanet 648 TPD-9ZE1Z3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-9ZE1Z3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-9ZE1Z3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-9ZE1Z3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-9ZE1Z3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-9ZE1Z3 Lynch syndrome 2B90.Y Orphanet 144 TPD-9ZE1Z3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-9ZE1Z3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-9ZG8M9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-9ZHE1D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-9ZHV33 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-9ZHV33 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-9ZJ6Q5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-9ZLSGX Kennedy disease 8B61.4 Orphanet 481 TPD-9ZLSGX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9ZLSGX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9ZLSGX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9ZOM0M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-9ZOM0M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-9ZOM0M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-9ZOPO8 Kennedy disease 8B61.4 Orphanet 481 TPD-9ZOPO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-9ZOPO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-9ZOPO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-9ZQBVP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-9ZQBVP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-9ZV7W6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-9ZV7W6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-9ZV7W6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A03QQ9 Kennedy disease 8B61.4 Orphanet 481 TPD-A03QQ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A03QQ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A03QQ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A05LP0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A05LP0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A05LP0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A09RBC Kennedy disease 8B61.4 Orphanet 481 TPD-A09RBC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A09RBC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A09RBC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A0AKX5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A0AKX5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-A0AKX5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A0AVWR Kennedy disease 8B61.4 Orphanet 481 TPD-A0AVWR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A0AVWR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A0AVWR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A0B4PW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-A0B4PW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-A0B4PW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-A0B4PW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-A0B4PW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-A0B4PW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-A0B4PW Semantic dementia 6D83 Orphanet 100069 TPD-A0B4PW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-A0E14Q Kennedy disease 8B61.4 Orphanet 481 TPD-A0E14Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A0E14Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A0E14Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A0EJAW Noonan syndrome LD2F.15 Orphanet 648 TPD-A0EJAW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A0EJAW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A0EJAW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A0EJAW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A0EJAW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A0EJAW Lynch syndrome 2B90.Y Orphanet 144 TPD-A0EJAW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A0EJAW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A0LG6H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-A0LG6H Neuroblastoma 2A00.11 Orphanet 635 TPD-A0LG6H Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-A0LG6H ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-A0LG6H ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-A0P8YH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A0TWL8 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-A0U8QT Noonan syndrome LD2F.15 Orphanet 648 TPD-A0U8QT Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-A0VB0C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A0VB0C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A0VB0C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A1745Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A1745Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A1745Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A1745Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A18QEL Kennedy disease 8B61.4 Orphanet 481 TPD-A18QEL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A18QEL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A18QEL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A1CVJF Noonan syndrome LD2F.15 Orphanet 648 TPD-A1CVJF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A1CVJF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A1CVJF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A1CVJF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A1CVJF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A1CVJF Lynch syndrome 2B90.Y Orphanet 144 TPD-A1CVJF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A1CVJF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A1D40N Kennedy disease 8B61.4 Orphanet 481 TPD-A1D40N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A1D40N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A1D40N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A1F3WP Kennedy disease 8B61.4 Orphanet 481 TPD-A1F3WP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A1F3WP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A1F3WP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A1FTCH Noonan syndrome LD2F.15 Orphanet 648 TPD-A1FTCH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A1FTCH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A1FTCH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A1FTCH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A1FTCH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A1FTCH Lynch syndrome 2B90.Y Orphanet 144 TPD-A1FTCH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A1FTCH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A1HHZ9 Kennedy disease 8B61.4 Orphanet 481 TPD-A1HHZ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A1HHZ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A1HHZ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A1IHRQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A1JJVX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A1PE52 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A1PE52 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-A1PE52 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A1PZLU Kennedy disease 8B61.4 Orphanet 481 TPD-A1PZLU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A1PZLU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A1PZLU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A1SK2V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A1WA5M Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-A1WA5M Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-A1Z0JU Kennedy disease 8B61.4 Orphanet 481 TPD-A1Z0JU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A1Z0JU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A1Z0JU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A226TO Noonan syndrome LD2F.15 Orphanet 648 TPD-A226TO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A226TO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A226TO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A226TO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A226TO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A226TO Lynch syndrome 2B90.Y Orphanet 144 TPD-A226TO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A226TO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A22L5A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A22L5A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A22L5A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A26RJ9 Kennedy disease 8B61.4 Orphanet 481 TPD-A26RJ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A26RJ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A26RJ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A27P01 Noonan syndrome LD2F.15 Orphanet 648 TPD-A27P01 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A27P01 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A27P01 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A27P01 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A27P01 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A27P01 Lynch syndrome 2B90.Y Orphanet 144 TPD-A27P01 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A27P01 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A290F6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A290F6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-A2AVWD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A2AVWD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A2C12A Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-A2C12A Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-A2C12A Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-A2C12A Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-A2C12A Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-A2C12A Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-A2C12A Semantic dementia 6D83 Orphanet 100069 TPD-A2C12A Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-A2ET8F Familial melanoma QC61.Y Orphanet 618 TPD-A2ET8F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A2F4EZ Noonan syndrome LD2F.15 Orphanet 648 TPD-A2F4EZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-A2G3QJ Kennedy disease 8B61.4 Orphanet 481 TPD-A2G3QJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A2G3QJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A2G3QJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A2HHW9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A2HHW9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-A2HHW9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A2HTSB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A2HTSB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A2J34C Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-A2J34C Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-A2J34C Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-A2J34C Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-A2J34C Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-A2J34C Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-A2J34C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A2J34C Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-A2J34C Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-A2MGV8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A2N8K7 Kennedy disease 8B61.4 Orphanet 481 TPD-A2N8K7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A2N8K7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A2N8K7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A2TEI5 Familial melanoma QC61.Y Orphanet 618 TPD-A2TEI5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A2TYAE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A2U29V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A2U29V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A2U4MB Kennedy disease 8B61.4 Orphanet 481 TPD-A2U4MB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A2U4MB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A2U4MB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A2XR7N Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A2Y3TV Kennedy disease 8B61.4 Orphanet 481 TPD-A2Y3TV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A2Y3TV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A2Y3TV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A2YF3E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A2YF3E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A2Z3DC Kennedy disease 8B61.4 Orphanet 481 TPD-A2Z3DC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A2Z3DC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A2Z3DC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A2ZBSQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A2ZBSQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A32PRB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A33UCQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A33UCQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A33UCQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A33UCQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A341VQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A341VQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-A3ANKS Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-A3ANKS Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-A3ANKS Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-A3ANKS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-A3ANKS Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-A3ANKS Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-A3ANKS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A3ANKS Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-A3ANKS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-A3B9FN Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-A3EJ8F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A3EJ8F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A3EJ8F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A3EJ8F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A3GG88 Kennedy disease 8B61.4 Orphanet 481 TPD-A3GG88 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A3GG88 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A3GG88 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A3HL26 Kennedy disease 8B61.4 Orphanet 481 TPD-A3HL26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A3HL26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A3HL26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A3HSWI Familial melanoma QC61.Y Orphanet 618 TPD-A3JECI Noonan syndrome LD2F.15 Orphanet 648 TPD-A3JECI Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-A3JEGP Familial melanoma QC61.Y Orphanet 618 TPD-A3JEGP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A3PBCX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A3QL35 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A3R1OB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A3R1OB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A3R1OB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A3R1OB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A3RU10 Familial melanoma QC61.Y Orphanet 618 TPD-A3RU10 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A3UABG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A3VGPO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A3ZVGR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A3ZVGR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A41EVQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A41EVQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A41EVQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A41EVQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A42190 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A42190 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A42190 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A42EA4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A42TF0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A42VD0 Kennedy disease 8B61.4 Orphanet 481 TPD-A42VD0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A42VD0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A42VD0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A47XUX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A47XUX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A49ZOO Kennedy disease 8B61.4 Orphanet 481 TPD-A49ZOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A49ZOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A49ZOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A4DCGA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A4DCGA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A4DCGA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A4DNQ9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A4DNQ9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A4DNQ9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A4EJPE Noonan syndrome LD2F.15 Orphanet 648 TPD-A4EJPE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A4EJPE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A4EJPE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A4EJPE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A4EJPE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A4EJPE Lynch syndrome 2B90.Y Orphanet 144 TPD-A4EJPE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A4EJPE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A4F04V Noonan syndrome LD2F.15 Orphanet 648 TPD-A4F04V Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-A4F04V Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-A4F04V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A4F04V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A4F04V Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-A4F04V Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-A4F04V Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-A4F04V Craniopharyngioma 2F9A Orphanet 54595 TPD-A4F04V Cushing disease 5A70.0 Orphanet 96253 TPD-A4I0RW Noonan syndrome LD2F.15 Orphanet 648 TPD-A4I0RW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A4I0RW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A4I0RW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A4I0RW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A4I0RW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A4I0RW Lynch syndrome 2B90.Y Orphanet 144 TPD-A4I0RW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A4I0RW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A4I56R Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A4IPLO Noonan syndrome LD2F.15 Orphanet 648 TPD-A4IPLO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A4IPLO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A4IPLO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A4IPLO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A4IPLO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A4IPLO Lynch syndrome 2B90.Y Orphanet 144 TPD-A4IPLO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A4IPLO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A4M313 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A4O36O Kennedy disease 8B61.4 Orphanet 481 TPD-A4O36O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A4O36O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A4O36O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A4Q4R6 Kennedy disease 8B61.4 Orphanet 481 TPD-A4Q4R6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A4Q4R6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A4Q4R6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A4RGMS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A4RGMS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A4RGMS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A4S89R Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-A4S89R Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-A4S89R Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-A4S89R Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-A4S89R Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-A4S89R Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-A4S89R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A4S89R Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-A4S89R Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-A4TBDS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-A4X07E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A50CS0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A50CS0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A50CS0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A50CS0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A51K3O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A52IYY Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-A52IYY Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-A52IYY Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-A52IYY Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-A52IYY Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-A52OTS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A52OTS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A52OTS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A52OTS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A53OUQ Kennedy disease 8B61.4 Orphanet 481 TPD-A53OUQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A53OUQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A53OUQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A55JM8 Kennedy disease 8B61.4 Orphanet 481 TPD-A55JM8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A55JM8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A55JM8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A56H4Q Kennedy disease 8B61.4 Orphanet 481 TPD-A56H4Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A56H4Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A56H4Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A58A0M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A58A0M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A58A0M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A59OTW Kennedy disease 8B61.4 Orphanet 481 TPD-A59OTW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A59OTW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A59OTW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A5F2EK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A5GUOU Kennedy disease 8B61.4 Orphanet 481 TPD-A5GUOU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A5GUOU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A5GUOU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A5LU1S Familial melanoma QC61.Y Orphanet 618 TPD-A5LU1S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A5N4QO Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-A5O91X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A5QA1O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A5QA1O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A5QA1O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A5RKXP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A5RKXP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A5TAJD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A5WBZ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-A5WBZ0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-A5WBZ0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-A5WBZ0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A5WBZ0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A5WBZ0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-A5WBZ0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-A5WBZ0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-A5WBZ0 Craniopharyngioma 2F9A Orphanet 54595 TPD-A5WBZ0 Cushing disease 5A70.0 Orphanet 96253 TPD-A5WBZ0 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-A5WLNL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A5WLNL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A5WLNL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A5WLNL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A5XHGC Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-A62SN6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-A62SN6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-A64OHO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A669EM Kennedy disease 8B61.4 Orphanet 481 TPD-A669EM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A669EM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A669EM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A66OLQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A66OLQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A6D11Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A6IDLN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A6IDLN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A6IDLN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A6IDLN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A6IKM6 Noonan syndrome LD2F.15 Orphanet 648 TPD-A6IKM6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A6IKM6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A6IKM6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A6IKM6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A6IKM6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A6IKM6 Lynch syndrome 2B90.Y Orphanet 144 TPD-A6IKM6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A6IKM6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A6IZRQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A6KG63 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-A6KG63 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-A6KP3V Noonan syndrome LD2F.15 Orphanet 648 TPD-A6KP3V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A6KP3V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A6KP3V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A6KP3V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A6KP3V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A6KP3V Lynch syndrome 2B90.Y Orphanet 144 TPD-A6KP3V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A6KP3V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A6LRMB Kennedy disease 8B61.4 Orphanet 481 TPD-A6LRMB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A6LRMB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A6LRMB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A6LX5V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A6LX5V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-A6NCVD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A6NPRZ Noonan syndrome LD2F.15 Orphanet 648 TPD-A6NPRZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A6NPRZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A6NPRZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A6NPRZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A6NPRZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A6NPRZ Lynch syndrome 2B90.Y Orphanet 144 TPD-A6NPRZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A6NPRZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A6P802 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A6PARC Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-A6PARC Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-A6PARC Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-A6PARC Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-A6PARC Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-A6PARC Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-A6PARC Semantic dementia 6D83 Orphanet 100069 TPD-A6PARC Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-A6RRP0 Kennedy disease 8B61.4 Orphanet 481 TPD-A6RRP0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A6RRP0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A6RRP0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A6WDLH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A6WDLH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A6YSB5 Kennedy disease 8B61.4 Orphanet 481 TPD-A6YSB5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A6YSB5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A6YSB5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A740Y6 Noonan syndrome LD2F.15 Orphanet 648 TPD-A740Y6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A740Y6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A740Y6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A740Y6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A740Y6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A740Y6 Lynch syndrome 2B90.Y Orphanet 144 TPD-A740Y6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A740Y6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A74BY9 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-A75XTT Kennedy disease 8B61.4 Orphanet 481 TPD-A75XTT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A75XTT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A75XTT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A76B0P Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A79JPV Kennedy disease 8B61.4 Orphanet 481 TPD-A79JPV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A79JPV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A79JPV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A7C8BC Kennedy disease 8B61.4 Orphanet 481 TPD-A7C8BC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A7C8BC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A7C8BC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A7DL4X Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-A7E4RH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A7E4RH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A7E4RH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A7F3S7 Familial melanoma QC61.Y Orphanet 618 TPD-A7F3S7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A7GDQN Kennedy disease 8B61.4 Orphanet 481 TPD-A7GDQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A7GDQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A7GDQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A7H7UO Noonan syndrome LD2F.15 Orphanet 648 TPD-A7H7UO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A7H7UO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A7H7UO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A7H7UO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A7H7UO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A7H7UO Lynch syndrome 2B90.Y Orphanet 144 TPD-A7H7UO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A7H7UO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A7HZJC Noonan syndrome LD2F.15 Orphanet 648 TPD-A7HZJC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A7HZJC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A7HZJC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A7HZJC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A7HZJC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A7HZJC Lynch syndrome 2B90.Y Orphanet 144 TPD-A7HZJC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A7HZJC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A7LPCT Noonan syndrome LD2F.15 Orphanet 648 TPD-A7LPCT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A7LPCT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A7LPCT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A7LPCT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A7LPCT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A7LPCT Lynch syndrome 2B90.Y Orphanet 144 TPD-A7LPCT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A7LPCT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A7MV6F Weaver syndrome LD2C Orphanet 3447 TPD-A7Q4IB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A7Q4IB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A7Q4IB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A7WWH6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A7WWH6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A7WWH6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A7WWH6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A7ZIP8 Noonan syndrome LD2F.15 Orphanet 648 TPD-A7ZIP8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A7ZIP8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A7ZIP8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A7ZIP8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A7ZIP8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A7ZIP8 Lynch syndrome 2B90.Y Orphanet 144 TPD-A7ZIP8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A7ZIP8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A802YB Familial melanoma QC61.Y Orphanet 618 TPD-A802YB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-A82IM1 Kennedy disease 8B61.4 Orphanet 481 TPD-A82IM1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A82IM1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A82IM1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A83GCF Noonan syndrome LD2F.15 Orphanet 648 TPD-A83GCF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-A83GCF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A83GCF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-A83GCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A83GCF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-A83GCF Lynch syndrome 2B90.Y Orphanet 144 TPD-A83GCF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-A83GCF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-A83X0R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A83X0R Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-A83X0R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A8AG5F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-A8ASIE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-A8G1DF Kennedy disease 8B61.4 Orphanet 481 TPD-A8G1DF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A8G1DF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A8G1DF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A8GP63 Kennedy disease 8B61.4 Orphanet 481 TPD-A8GP63 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A8GP63 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A8GP63 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A8HW1M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A8HW1M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A8HW1M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A8HW1M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A8LQOP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A8OE38 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A8OE38 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-A8OFMB Familial melanoma QC61.Y Orphanet 618 TPD-A8ONI9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A8UMBU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A8YAN6 Noonan syndrome LD2F.15 Orphanet 648 TPD-A8YAN6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-A8YAN6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-A8YAN6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-A8YAN6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-A8YAN6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-A8YAN6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-A8YAN6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-A8YAN6 Craniopharyngioma 2F9A Orphanet 54595 TPD-A8YAN6 Cushing disease 5A70.0 Orphanet 96253 TPD-A90872 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A90872 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A98MZC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-A98MZC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-A98MZC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-A98YMY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A98YMY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A99UP5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A99UP5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A9A6BZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A9A6BZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A9DY53 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-A9DY53 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-A9F3NY Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-A9JVQC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-A9JVQC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-A9MF5L Kennedy disease 8B61.4 Orphanet 481 TPD-A9MF5L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A9MF5L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A9MF5L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A9MP3H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-A9MP3H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-A9MP3H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-A9MP3H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-A9OJRH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-A9P88G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-A9P88G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-A9PV0O Kennedy disease 8B61.4 Orphanet 481 TPD-A9PV0O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-A9PV0O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-A9PV0O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-A9Y7QC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AA1LOU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AA1LOU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AA1LOU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AA3E6O Kennedy disease 8B61.4 Orphanet 481 TPD-AA3E6O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AA3E6O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AA3E6O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AA4LRP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AA4LRP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AA73KV Kennedy disease 8B61.4 Orphanet 481 TPD-AA73KV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AA73KV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AA73KV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AA81CF Noonan syndrome LD2F.15 Orphanet 648 TPD-AA81CF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AA81CF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AA81CF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AA81CF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AA81CF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AA81CF Lynch syndrome 2B90.Y Orphanet 144 TPD-AA81CF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AA81CF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AA8BER Noonan syndrome LD2F.15 Orphanet 648 TPD-AA8BER Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AA8BER Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AA8BER Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AA8BER Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AA8BER Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AA8BER Lynch syndrome 2B90.Y Orphanet 144 TPD-AA8BER Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AA8BER Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AA9FCS Weaver syndrome LD2C Orphanet 3447 TPD-AA9OXK Noonan syndrome LD2F.15 Orphanet 648 TPD-AA9OXK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AA9OXK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AA9OXK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AA9OXK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AA9OXK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AA9OXK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AA9OXK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AA9OXK Craniopharyngioma 2F9A Orphanet 54595 TPD-AA9OXK Cushing disease 5A70.0 Orphanet 96253 TPD-AAA3ND Noonan syndrome LD2F.15 Orphanet 648 TPD-AAA3ND Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AAA3ND Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AAA3ND Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AAA3ND Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AAA3ND Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AAA3ND Lynch syndrome 2B90.Y Orphanet 144 TPD-AAA3ND Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AAA3ND Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AADH7A Noonan syndrome LD2F.15 Orphanet 648 TPD-AADH7A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AADH7A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AADH7A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AADH7A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AADH7A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AADH7A Lynch syndrome 2B90.Y Orphanet 144 TPD-AADH7A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AADH7A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AAJET5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AAJET5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AALPXG Kennedy disease 8B61.4 Orphanet 481 TPD-AALPXG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AALPXG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AALPXG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AANNDZ Familial melanoma QC61.Y Orphanet 618 TPD-AANNDZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AAR4FR Kennedy disease 8B61.4 Orphanet 481 TPD-AAR4FR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AAR4FR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AAR4FR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AASA6M Kennedy disease 8B61.4 Orphanet 481 TPD-AASA6M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AASA6M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AASA6M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AASDLD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AASDLD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AAT3D3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AAT3D3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AAT3D3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AAUTT3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-AAX5QF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AAX5QF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AAX5QF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AAX5QF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AB171K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AB3FIY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AB5GRD Kennedy disease 8B61.4 Orphanet 481 TPD-AB5GRD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AB5GRD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AB5GRD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AB7NGJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-AB7NGJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-AB89VQ Kennedy disease 8B61.4 Orphanet 481 TPD-AB89VQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AB89VQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AB89VQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ABD9L9 Noonan syndrome LD2F.15 Orphanet 648 TPD-ABD9L9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ABD9L9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ABD9L9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ABD9L9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ABD9L9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ABD9L9 Lynch syndrome 2B90.Y Orphanet 144 TPD-ABD9L9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ABD9L9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ABE39O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ABE39O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ABE39O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ABE39O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ABERKW Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ABHHLG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ABHHLG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ABHHLG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ABI2ED Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ABKAUZ Kennedy disease 8B61.4 Orphanet 481 TPD-ABKAUZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ABKAUZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ABKAUZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ABNWQU Noonan syndrome LD2F.15 Orphanet 648 TPD-ABNWQU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ABNWQU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ABNWQU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ABNWQU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ABNWQU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ABNWQU Lynch syndrome 2B90.Y Orphanet 144 TPD-ABNWQU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ABNWQU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ABOA6W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ABOA6W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ABOIAQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ABPIYS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ABPIYS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ABR97V Kennedy disease 8B61.4 Orphanet 481 TPD-ABR97V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ABR97V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ABR97V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ABT6YE Noonan syndrome LD2F.15 Orphanet 648 TPD-ABT6YE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ABT6YE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ABT6YE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ABT6YE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ABT6YE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ABT6YE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ABT6YE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ABT6YE Craniopharyngioma 2F9A Orphanet 54595 TPD-ABT6YE Cushing disease 5A70.0 Orphanet 96253 TPD-ABT8MM Kennedy disease 8B61.4 Orphanet 481 TPD-ABT8MM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ABT8MM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ABT8MM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ABTN6W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ABTN6W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ABTP9W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ABUJXF Noonan syndrome LD2F.15 Orphanet 648 TPD-ABUJXF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ABUJXF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ABUJXF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ABUJXF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ABUJXF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ABUJXF Lynch syndrome 2B90.Y Orphanet 144 TPD-ABUJXF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ABUJXF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ABUM20 Familial melanoma QC61.Y Orphanet 618 TPD-ABUM20 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ABXOL7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ABXOL7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ABXOL7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ABZ486 Noonan syndrome LD2F.15 Orphanet 648 TPD-ABZ486 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ABZ486 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ABZ486 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ABZ486 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ABZ486 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ABZ486 Lynch syndrome 2B90.Y Orphanet 144 TPD-ABZ486 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ABZ486 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AC0JVL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AC1E7P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AC1E7P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AC1E7P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AC1E7P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AC44QA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AC44QA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AC44QA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AC6NGF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AC6NGF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AC6NGF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AC6NGF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AC6NJF Familial melanoma QC61.Y Orphanet 618 TPD-AC6NJF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AC8VSR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AC8VSR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AC8VSR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AC8VSR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AC9Y5I Kennedy disease 8B61.4 Orphanet 481 TPD-AC9Y5I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AC9Y5I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AC9Y5I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ACNFLC Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ACO5L7 Cystic fibrosis CA25 Orphanet 586 TPD-ACO5L7 Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-ACOAUW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ACOAUW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ACQVQZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ACQVQZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ACZA34 Kennedy disease 8B61.4 Orphanet 481 TPD-ACZA34 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ACZA34 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ACZA34 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AD5MR0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ADBILN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ADBILN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ADBILN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ADE2RW Kennedy disease 8B61.4 Orphanet 481 TPD-ADE2RW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ADE2RW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ADE2RW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ADE92K Familial melanoma QC61.Y Orphanet 618 TPD-ADE92K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ADFHCY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-ADFHCY Noonan syndrome LD2F.15 Orphanet 648 TPD-ADFHCY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ADFHCY Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-ADFHCY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ADFHCY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ADKAA5 Kennedy disease 8B61.4 Orphanet 481 TPD-ADKAA5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ADKAA5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ADKAA5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ADLPNZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ADLPNZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ADM9XG Noonan syndrome LD2F.15 Orphanet 648 TPD-ADM9XG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ADM9XG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ADM9XG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ADM9XG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ADM9XG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ADM9XG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ADM9XG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ADM9XG Craniopharyngioma 2F9A Orphanet 54595 TPD-ADM9XG Cushing disease 5A70.0 Orphanet 96253 TPD-ADMWS5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ADMWS5 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ADNGPX Achondroplasia LD24.00 Orphanet 15 TPD-ADNGPX Hypochondroplasia LD24.01 Orphanet 429 TPD-ADNGPX Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-ADNGPX Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-ADNGPX Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-ADNGPX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ADNGPX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ADNGPX Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-ADNGPX Muenke syndrome LD24.GY Orphanet 53271 TPD-ADNGPX Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-ADNGPX Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-ADNGPX Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-ADNTX8 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ADPPV0 Noonan syndrome LD2F.15 Orphanet 648 TPD-ADPPV0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ADPPV0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ADPPV0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ADPPV0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ADPPV0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ADPPV0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ADPPV0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ADPPV0 Craniopharyngioma 2F9A Orphanet 54595 TPD-ADPPV0 Cushing disease 5A70.0 Orphanet 96253 TPD-ADRPD5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ADRPD5 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ADT84T Kennedy disease 8B61.4 Orphanet 481 TPD-ADT84T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ADT84T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ADT84T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ADVAVQ Noonan syndrome LD2F.15 Orphanet 648 TPD-ADVAVQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ADVAVQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ADVAVQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ADVAVQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ADVAVQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ADVAVQ Lynch syndrome 2B90.Y Orphanet 144 TPD-ADVAVQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ADVAVQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ADVQKO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ADVQKO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ADX36M Noonan syndrome LD2F.15 Orphanet 648 TPD-ADX36M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ADX36M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ADX36M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ADX36M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ADX36M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ADX36M Lynch syndrome 2B90.Y Orphanet 144 TPD-ADX36M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ADX36M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AE1BU7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AE1BU7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AE1BU7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AE1BU7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AE1NZK Kennedy disease 8B61.4 Orphanet 481 TPD-AE1NZK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AE1NZK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AE1NZK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AE2L52 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AE2L52 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AE2L52 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AE3C3K Kennedy disease 8B61.4 Orphanet 481 TPD-AE3C3K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AE3C3K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AE3C3K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AE4R60 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AE4R60 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AE4R60 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AE6XJ7 Kennedy disease 8B61.4 Orphanet 481 TPD-AE6XJ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AE6XJ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AE6XJ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AE7234 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AE7234 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AE7234 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AE7234 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AE7GUF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AE7GUF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AE7GUF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AE7K3C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AE7K3C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AE8LLM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AECHAD Noonan syndrome LD2F.15 Orphanet 648 TPD-AECHAD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AECHAD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AECHAD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AECHAD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AECHAD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AECHAD Lynch syndrome 2B90.Y Orphanet 144 TPD-AECHAD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AECHAD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AEDQ42 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AEDQ42 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AEDQ42 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AEFPIW Noonan syndrome LD2F.15 Orphanet 648 TPD-AEFPIW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AEFPIW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AEFPIW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AEFPIW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AEFPIW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AEFPIW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AEFPIW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AEFPIW Craniopharyngioma 2F9A Orphanet 54595 TPD-AEFPIW Cushing disease 5A70.0 Orphanet 96253 TPD-AEGVB6 Kennedy disease 8B61.4 Orphanet 481 TPD-AEGVB6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AEGVB6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AEGVB6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AEI0XC Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-AEI0XC Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-AEI0XC Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-AEI0XC Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-AEI0XC Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-AEI0XC Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-AEI0XC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AEI0XC Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-AEI0XC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-AEL6U8 Noonan syndrome LD2F.15 Orphanet 648 TPD-AEL6U8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AEL6U8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AEL6U8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AEL6U8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AEL6U8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AEL6U8 Lynch syndrome 2B90.Y Orphanet 144 TPD-AEL6U8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AEL6U8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AEMMRJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-AEMMRJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-AEMMRJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-AEMMRJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-AEMMRJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-AEMMRJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-AEMMRJ Semantic dementia 6D83 Orphanet 100069 TPD-AEMMRJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-AEMX3H Kennedy disease 8B61.4 Orphanet 481 TPD-AEMX3H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AEMX3H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AEMX3H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AEP1AT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AEP1AT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AEP1AT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AEP1AT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AEPZI2 Noonan syndrome LD2F.15 Orphanet 648 TPD-AEPZI2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AEPZI2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AEPZI2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AEPZI2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AEPZI2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AEPZI2 Lynch syndrome 2B90.Y Orphanet 144 TPD-AEPZI2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AEPZI2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AEQ4FV Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-AEQ4FV Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-AEQ4FV Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-AEQ4FV Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-AEQ4FV Primary myelofibrosis 2A20.2 Orphanet 824 TPD-AEQ4FV Polycythemia vera 2A20.4 Orphanet 729 TPD-AEQ4FV Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-AESAPF Kennedy disease 8B61.4 Orphanet 481 TPD-AESAPF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AESAPF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AESAPF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AESI65 Kennedy disease 8B61.4 Orphanet 481 TPD-AESI65 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AESI65 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AESI65 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AESTJ6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AESTJ6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AEUQOT Kennedy disease 8B61.4 Orphanet 481 TPD-AEUQOT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AEUQOT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AEUQOT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AEUU2L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AEUU2L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AEUU2L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AEWO72 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AF01N5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AF0LYZ Noonan syndrome LD2F.15 Orphanet 648 TPD-AF0LYZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AF0LYZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AF0LYZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AF0LYZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AF0LYZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AF0LYZ Lynch syndrome 2B90.Y Orphanet 144 TPD-AF0LYZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AF0LYZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AF48YO Kennedy disease 8B61.4 Orphanet 481 TPD-AF48YO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AF48YO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AF48YO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AF4ZVZ Burkitt lymphoma XH4KA9 Orphanet 543 TPD-AF4ZVZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-AF4ZVZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-AF5CDZ Kennedy disease 8B61.4 Orphanet 481 TPD-AF5CDZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AF5CDZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AF5CDZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AF6SOV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AF6SOV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AF6SOV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AFASTA Kennedy disease 8B61.4 Orphanet 481 TPD-AFASTA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AFASTA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AFASTA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AFD7JH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AFD7JH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AFD7JH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AFKFV9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AFKFV9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AFKVMN Noonan syndrome LD2F.15 Orphanet 648 TPD-AFKVMN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AFKVMN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AFKVMN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AFKVMN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AFKVMN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AFKVMN Lynch syndrome 2B90.Y Orphanet 144 TPD-AFKVMN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AFKVMN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AFLPL6 Kennedy disease 8B61.4 Orphanet 481 TPD-AFLPL6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AFLPL6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AFLPL6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AFMSMH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AFNC5V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AFNC5V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AFRAGX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AFRAGX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AFYS09 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AFYSN8 Noonan syndrome LD2F.15 Orphanet 648 TPD-AFYSN8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AFYSN8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AFYSN8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AFYSN8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AFYSN8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AFYSN8 Lynch syndrome 2B90.Y Orphanet 144 TPD-AFYSN8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AFYSN8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AFZGWI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AFZGWI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AG1JC1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AG47Z5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AG47Z5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AG4HR9 Familial melanoma QC61.Y Orphanet 618 TPD-AG4HR9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AG7N90 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AG8EQH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AGASSI Weaver syndrome LD2C Orphanet 3447 TPD-AGASSI Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-AGDU8H Kennedy disease 8B61.4 Orphanet 481 TPD-AGDU8H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AGDU8H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AGDU8H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AGF3R3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AGF3R3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AGF3R3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AGGFYV Noonan syndrome LD2F.15 Orphanet 648 TPD-AGGFYV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AGGFYV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AGGFYV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AGGFYV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AGGFYV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AGGFYV Lynch syndrome 2B90.Y Orphanet 144 TPD-AGGFYV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AGGFYV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AGGSVT Kennedy disease 8B61.4 Orphanet 481 TPD-AGGSVT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AGGSVT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AGGSVT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AGHZ3Y Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-AGHZ3Y Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-AGHZ3Y Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-AGHZ3Y Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-AGHZ3Y Primary myelofibrosis 2A20.2 Orphanet 824 TPD-AGHZ3Y Polycythemia vera 2A20.4 Orphanet 729 TPD-AGHZ3Y Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-AGIIKO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AGJ5HA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AGO3JT Kennedy disease 8B61.4 Orphanet 481 TPD-AGO3JT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AGO3JT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AGO3JT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AGOTG5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AGOTG5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AGOTG5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AGPU3O Kennedy disease 8B61.4 Orphanet 481 TPD-AGPU3O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AGPU3O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AGPU3O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AGTN8J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AGVWWK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AGWRD9 Kennedy disease 8B61.4 Orphanet 481 TPD-AGWRD9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AGWRD9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AGWRD9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AGZ7T7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AGZ7T7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AGZ7T7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AH1YFV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AH1YFV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AH1YFV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AH1YFV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AH227H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AH334W Kennedy disease 8B61.4 Orphanet 481 TPD-AH334W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AH334W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AH334W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AH4J0E Noonan syndrome LD2F.15 Orphanet 648 TPD-AH4J0E Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AH4J0E Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AH4J0E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AH4J0E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AH4J0E Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AH4J0E Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AH4J0E Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AH4J0E Craniopharyngioma 2F9A Orphanet 54595 TPD-AH4J0E Cushing disease 5A70.0 Orphanet 96253 TPD-AHDYIL Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-AHOJP7 Kennedy disease 8B61.4 Orphanet 481 TPD-AHOJP7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AHOJP7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AHOJP7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AHQ3CR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AHR4B0 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-AHUPLA Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-AHUPLA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-AHXXXW Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-AI43N9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AI43N9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AI43N9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AI43N9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AI4ANA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AI4ANA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AI4FTL Noonan syndrome LD2F.15 Orphanet 648 TPD-AI4FTL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AI4FTL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AI4FTL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AI4FTL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AI4FTL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AI4FTL Lynch syndrome 2B90.Y Orphanet 144 TPD-AI4FTL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AI4FTL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AI7236 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-AI7236 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-AI7236 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-AI7236 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-AI7236 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-AI7236 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-AI7236 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AI7236 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-AI7236 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-AIIKFT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AIIKFT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AIKK6L Kennedy disease 8B61.4 Orphanet 481 TPD-AIKK6L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AIKK6L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AIKK6L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AIKZBS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AILECY Noonan syndrome LD2F.15 Orphanet 648 TPD-AILECY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AILECY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AILECY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AILECY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AILECY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AILECY Lynch syndrome 2B90.Y Orphanet 144 TPD-AILECY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AILECY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AIPCNJ Kennedy disease 8B61.4 Orphanet 481 TPD-AIPCNJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AIPCNJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AIPCNJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AIR7BI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AIR7BI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AIR98V Noonan syndrome LD2F.15 Orphanet 648 TPD-AIR98V Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AIR98V Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AIR98V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AIR98V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AIR98V Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AIR98V Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AIR98V Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AIR98V Craniopharyngioma 2F9A Orphanet 54595 TPD-AIR98V Cushing disease 5A70.0 Orphanet 96253 TPD-AIUI1A Noonan syndrome LD2F.15 Orphanet 648 TPD-AIUI1A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AIUI1A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AIUI1A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AIUI1A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AIUI1A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AIUI1A Lynch syndrome 2B90.Y Orphanet 144 TPD-AIUI1A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AIUI1A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AIYMUW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AIYMUW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AIYMUW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AJ4J6F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AJ4J6F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AJAD6Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AJGCBU Noonan syndrome LD2F.15 Orphanet 648 TPD-AJGCBU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AJGCBU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AJGCBU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AJGCBU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AJGCBU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AJGCBU Lynch syndrome 2B90.Y Orphanet 144 TPD-AJGCBU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AJGCBU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AJJZRF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AJJZRF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AJK7LM Noonan syndrome LD2F.15 Orphanet 648 TPD-AJK7LM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AJK7LM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AJK7LM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AJK7LM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AJK7LM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AJK7LM Lynch syndrome 2B90.Y Orphanet 144 TPD-AJK7LM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AJK7LM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AJN3PJ Noonan syndrome LD2F.15 Orphanet 648 TPD-AJN3PJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AJN3PJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AJN3PJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AJN3PJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AJN3PJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AJN3PJ Lynch syndrome 2B90.Y Orphanet 144 TPD-AJN3PJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AJN3PJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AJOMZL Noonan syndrome LD2F.15 Orphanet 648 TPD-AJOMZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AJOMZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AJOMZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AJOMZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AJOMZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AJOMZL Lynch syndrome 2B90.Y Orphanet 144 TPD-AJOMZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AJOMZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AJTWCD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AJU5HD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AJU5HD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AJU5HD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AJU5HD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AJUSCE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AJX1W3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AJY3AJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AJY3AJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AJY3AJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AK0AOW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AK3CGP Kennedy disease 8B61.4 Orphanet 481 TPD-AK3CGP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AK3CGP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AK3CGP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AK3I39 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-AK3I39 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-AK3I39 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-AK3I39 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-AK3I39 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-AK3I39 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-AK3I39 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AK3I39 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-AK3I39 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-AK6RYG Kennedy disease 8B61.4 Orphanet 481 TPD-AK6RYG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AK6RYG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AK6RYG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AK97PZ Noonan syndrome LD2F.15 Orphanet 648 TPD-AK97PZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AK97PZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AK97PZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AK97PZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AK97PZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AK97PZ Lynch syndrome 2B90.Y Orphanet 144 TPD-AK97PZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AK97PZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AKA7GI Kennedy disease 8B61.4 Orphanet 481 TPD-AKA7GI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AKA7GI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AKA7GI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AKAEQ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-AKAEQ5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AKAEQ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AKAEQ5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AKAEQ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AKAEQ5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AKAEQ5 Lynch syndrome 2B90.Y Orphanet 144 TPD-AKAEQ5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AKAEQ5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AKB3B0 Kennedy disease 8B61.4 Orphanet 481 TPD-AKB3B0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AKB3B0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AKB3B0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AKN2PV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AKN2PV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AKPAXK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AKPYY2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AKRE9J Noonan syndrome LD2F.15 Orphanet 648 TPD-AKRE9J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AKRE9J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AKRE9J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AKRE9J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AKRE9J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AKRE9J Lynch syndrome 2B90.Y Orphanet 144 TPD-AKRE9J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AKRE9J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AKVHGX Familial melanoma QC61.Y Orphanet 618 TPD-AKVHGX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AKW2AO Achondroplasia LD24.00 Orphanet 15 TPD-AKW2AO Hypochondroplasia LD24.01 Orphanet 429 TPD-AKW2AO Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-AKW2AO Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-AKW2AO Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-AKW2AO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AKW2AO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AKW2AO Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-AKW2AO Muenke syndrome LD24.GY Orphanet 53271 TPD-AKW2AO Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-AKW2AO Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-AKW2AO Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-AKW8TW Kennedy disease 8B61.4 Orphanet 481 TPD-AKW8TW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AKW8TW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AKW8TW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AKWI5V Noonan syndrome LD2F.15 Orphanet 648 TPD-AKWI5V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AKWI5V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AKWI5V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AKWI5V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AKWI5V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AKWI5V Lynch syndrome 2B90.Y Orphanet 144 TPD-AKWI5V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AKWI5V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AKY4QE Noonan syndrome LD2F.15 Orphanet 648 TPD-AKY4QE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AKY4QE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AKY4QE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AKY4QE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AKY4QE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AKY4QE Lynch syndrome 2B90.Y Orphanet 144 TPD-AKY4QE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AKY4QE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AL0F6M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AL0F6M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AL0F6M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AL0F6M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AL2MLQ Kennedy disease 8B61.4 Orphanet 481 TPD-AL2MLQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AL2MLQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AL2MLQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AL4AMC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AL4AMC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AL4AMC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AL4AMC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AL503U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AL503U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AL545V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AL545V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AL545V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AL545V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AL6PYB Familial melanoma QC61.Y Orphanet 618 TPD-AL7ARM Kennedy disease 8B61.4 Orphanet 481 TPD-AL7ARM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AL7ARM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AL7ARM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AL8W2F Kennedy disease 8B61.4 Orphanet 481 TPD-AL8W2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AL8W2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AL8W2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AL8W3O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ALAV0I Kennedy disease 8B61.4 Orphanet 481 TPD-ALAV0I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ALAV0I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ALAV0I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ALEYTK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ALMY1U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ALQDVH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ALQMTR Cystic fibrosis CA25 Orphanet 586 TPD-ALQMTR Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-ALRO62 Kennedy disease 8B61.4 Orphanet 481 TPD-ALRO62 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ALRO62 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ALRO62 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ALU8KD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ALU8KD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ALUM4Q Noonan syndrome LD2F.15 Orphanet 648 TPD-ALUM4Q Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ALXJPC Familial melanoma QC61.Y Orphanet 618 TPD-ALXJPC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ALZJ46 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-AM37AF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AM37AF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AM5H3L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AMCPJS Kennedy disease 8B61.4 Orphanet 481 TPD-AMCPJS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AMCPJS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AMCPJS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AMCTMA Noonan syndrome LD2F.15 Orphanet 648 TPD-AMCTMA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AMCTMA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AMCTMA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AMCTMA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AMCTMA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AMCTMA Lynch syndrome 2B90.Y Orphanet 144 TPD-AMCTMA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AMCTMA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AMCVXQ Noonan syndrome LD2F.15 Orphanet 648 TPD-AMCVXQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AMCVXQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AMCVXQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AMCVXQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AMCVXQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AMCVXQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AMCVXQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AMCVXQ Craniopharyngioma 2F9A Orphanet 54595 TPD-AMCVXQ Cushing disease 5A70.0 Orphanet 96253 TPD-AMFFD0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-AMGW8Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AMNFTF Noonan syndrome LD2F.15 Orphanet 648 TPD-AMNFTF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AMNFTF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AMNFTF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AMNFTF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AMNFTF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AMNFTF Lynch syndrome 2B90.Y Orphanet 144 TPD-AMNFTF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AMNFTF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AMNTPI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AMOFZC Kennedy disease 8B61.4 Orphanet 481 TPD-AMOFZC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AMOFZC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AMOFZC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AMQVF4 Noonan syndrome LD2F.15 Orphanet 648 TPD-AMQVF4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AMQVF4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AMQVF4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AMQVF4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AMQVF4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AMQVF4 Lynch syndrome 2B90.Y Orphanet 144 TPD-AMQVF4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AMQVF4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AMTH2A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AMTV23 Noonan syndrome LD2F.15 Orphanet 648 TPD-AMTV23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AMTV23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AMTV23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AMTV23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AMTV23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AMTV23 Lynch syndrome 2B90.Y Orphanet 144 TPD-AMTV23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AMTV23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AMVTY7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AMVTY7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AMVTY7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AMVTY7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AMX2ME Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-AN0S8N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AN0S8N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AN0S8N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AN2SKK Noonan syndrome LD2F.15 Orphanet 648 TPD-AN2SKK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AN2SKK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AN2SKK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AN2SKK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AN2SKK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AN2SKK Lynch syndrome 2B90.Y Orphanet 144 TPD-AN2SKK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AN2SKK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AN6SXZ Noonan syndrome LD2F.15 Orphanet 648 TPD-AN6SXZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AN6SXZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AN6SXZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AN6SXZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AN6SXZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AN6SXZ Lynch syndrome 2B90.Y Orphanet 144 TPD-AN6SXZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AN6SXZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AN9G5P Noonan syndrome LD2F.15 Orphanet 648 TPD-AN9G5P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AN9G5P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AN9G5P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AN9G5P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AN9G5P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AN9G5P Lynch syndrome 2B90.Y Orphanet 144 TPD-AN9G5P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AN9G5P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ANB8CV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ANB8CV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ANB8CV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ANBFN2 Kennedy disease 8B61.4 Orphanet 481 TPD-ANBFN2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ANBFN2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ANBFN2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ANGEGM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ANGEGM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ANGEGM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ANGEGM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ANGGXN Kennedy disease 8B61.4 Orphanet 481 TPD-ANGGXN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ANGGXN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ANGGXN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ANKZYK Noonan syndrome LD2F.15 Orphanet 648 TPD-ANKZYK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ANKZYK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ANKZYK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ANKZYK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ANKZYK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ANKZYK Lynch syndrome 2B90.Y Orphanet 144 TPD-ANKZYK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ANKZYK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ANOAL3 Achondroplasia LD24.00 Orphanet 15 TPD-ANOAL3 Hypochondroplasia LD24.01 Orphanet 429 TPD-ANOAL3 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-ANOAL3 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-ANOAL3 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-ANOAL3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ANOAL3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ANOAL3 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-ANOAL3 Muenke syndrome LD24.GY Orphanet 53271 TPD-ANOAL3 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-ANOAL3 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-ANOAL3 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-ANOIP9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ANOIP9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ANT864 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ANT864 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ANWCIX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ANWCIX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ANWCIX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ANYIE6 Kennedy disease 8B61.4 Orphanet 481 TPD-ANYIE6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ANYIE6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ANYIE6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ANZVDF Noonan syndrome LD2F.15 Orphanet 648 TPD-ANZVDF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ANZVDF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ANZVDF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ANZVDF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ANZVDF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ANZVDF Lynch syndrome 2B90.Y Orphanet 144 TPD-ANZVDF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ANZVDF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AO0F5E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AO0F5E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AO0FPV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AO0FPV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AO0FPV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AO1VS1 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-AO2GUJ Kennedy disease 8B61.4 Orphanet 481 TPD-AO2GUJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AO2GUJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AO2GUJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AO3QCR Noonan syndrome LD2F.15 Orphanet 648 TPD-AO3QCR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AO3QCR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AO3QCR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AO3QCR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AO3QCR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AO3QCR Lynch syndrome 2B90.Y Orphanet 144 TPD-AO3QCR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AO3QCR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AO7Z6P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AO7Z6P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AO8RPC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AO8RPC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AO8RPC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AO8RPC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AOEKT5 Noonan syndrome LD2F.15 Orphanet 648 TPD-AOEKT5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AOEKT5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AOEKT5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AOEKT5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AOEKT5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AOEKT5 Lynch syndrome 2B90.Y Orphanet 144 TPD-AOEKT5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AOEKT5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AOI9JT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AOIAWE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AOIAWE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AOIAWE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AOIT7K Kennedy disease 8B61.4 Orphanet 481 TPD-AOIT7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AOIT7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AOIT7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AOJUMY Noonan syndrome LD2F.15 Orphanet 648 TPD-AOJUMY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AOJUMY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AOJUMY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AOJUMY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AOJUMY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AOJUMY Lynch syndrome 2B90.Y Orphanet 144 TPD-AOJUMY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AOJUMY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AOPKN5 Kennedy disease 8B61.4 Orphanet 481 TPD-AOPKN5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AOPKN5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AOPKN5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AOTS2Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AOTS2Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AOTS2Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AOXZBJ Noonan syndrome LD2F.15 Orphanet 648 TPD-AOXZBJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AOXZBJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AOXZBJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AOXZBJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AOXZBJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AOXZBJ Lynch syndrome 2B90.Y Orphanet 144 TPD-AOXZBJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AOXZBJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AOY50A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AOY50A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AOY50A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AOZCTD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AP0FXT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AP0GVV Kennedy disease 8B61.4 Orphanet 481 TPD-AP0GVV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AP0GVV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AP0GVV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AP18I0 Familial melanoma QC61.Y Orphanet 618 TPD-AP18I0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AP24CN Kennedy disease 8B61.4 Orphanet 481 TPD-AP24CN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AP24CN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AP24CN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AP272H CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AP2AGK Kennedy disease 8B61.4 Orphanet 481 TPD-AP2AGK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AP2AGK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AP2AGK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AP2RMD Noonan syndrome LD2F.15 Orphanet 648 TPD-AP2RMD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AP2RMD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AP2RMD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AP2RMD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AP2RMD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AP2RMD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AP2RMD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AP2RMD Craniopharyngioma 2F9A Orphanet 54595 TPD-AP2RMD Cushing disease 5A70.0 Orphanet 96253 TPD-AP30DW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AP30DW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AP4304 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AP4304 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AP5QRJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AP5QRJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-APBIPY Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-APJ3UI Kennedy disease 8B61.4 Orphanet 481 TPD-APJ3UI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-APJ3UI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-APJ3UI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-APM0BW Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-APQETG Noonan syndrome LD2F.15 Orphanet 648 TPD-APQETG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-APQETG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-APQETG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-APQETG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-APQETG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-APQETG Lynch syndrome 2B90.Y Orphanet 144 TPD-APQETG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-APQETG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-APSWPN Kennedy disease 8B61.4 Orphanet 481 TPD-APSWPN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-APSWPN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-APSWPN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-APVCDE Noonan syndrome LD2F.15 Orphanet 648 TPD-APVCDE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-APVCDE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-APVCDE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-APVCDE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-APVCDE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-APVCDE Lynch syndrome 2B90.Y Orphanet 144 TPD-APVCDE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-APVCDE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-APYM9X Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-APZBRP Familial melanoma QC61.Y Orphanet 618 TPD-APZBRP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AQ16JT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AQ16JT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AQ16JT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AQ16JT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AQ99J8 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-AQ99J8 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-AQ99J8 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-AQ99J8 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-AQ99J8 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-AQ99J8 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-AQ99J8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AQ99J8 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-AQ99J8 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-AQI59K Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-AQM6MV Kennedy disease 8B61.4 Orphanet 481 TPD-AQM6MV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AQM6MV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AQM6MV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AQMVYA Kennedy disease 8B61.4 Orphanet 481 TPD-AQMVYA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AQMVYA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AQMVYA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AQOE7N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AQOEQX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AQOEQX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AQOEQX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AQV74A Familial melanoma QC61.Y Orphanet 618 TPD-AQV74A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AQXLC3 Noonan syndrome LD2F.15 Orphanet 648 TPD-AQXLC3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AQXLC3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AQXLC3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AQXLC3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AQXLC3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AQXLC3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AQXLC3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AQXLC3 Craniopharyngioma 2F9A Orphanet 54595 TPD-AQXLC3 Cushing disease 5A70.0 Orphanet 96253 TPD-AQYMUB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AQZCM3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-AQZCM3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-AQZCM3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-AQZCM3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-AQZCM3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-AQZCM3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-AQZCM3 Semantic dementia 6D83 Orphanet 100069 TPD-AQZCM3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-AR6980 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AR6Z18 Kennedy disease 8B61.4 Orphanet 481 TPD-AR6Z18 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AR6Z18 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AR6Z18 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AR9QTW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AR9QTW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AR9QTW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ARBYZX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ARBYZX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ARBYZX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ARBYZX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AREUJG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ARJ1M8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ARJ1M8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ARJ1M8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ARJ1M8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ARM1UK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ARM1UK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ARM34A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ARM34A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ARM34A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ARNFP2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ARNFP2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ARNFP2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ARNFP2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AROEIR Noonan syndrome LD2F.15 Orphanet 648 TPD-AROEIR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AROEIR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AROEIR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AROEIR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AROEIR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AROEIR Lynch syndrome 2B90.Y Orphanet 144 TPD-AROEIR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AROEIR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ARP80X Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ART1I0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ART1I0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ART7J8 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ART7J8 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ARTNBL Familial melanoma QC61.Y Orphanet 618 TPD-ARTNBL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ARXOLI Noonan syndrome LD2F.15 Orphanet 648 TPD-ARXOLI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ARXOLI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ARXOLI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ARXOLI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ARXOLI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ARXOLI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ARXOLI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ARXOLI Craniopharyngioma 2F9A Orphanet 54595 TPD-ARXOLI Cushing disease 5A70.0 Orphanet 96253 TPD-ARZGB1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ARZGB1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AS0FI1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-AS0FI1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-AS0FI1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-AS0FI1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-AS0FI1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-AS0FI1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-AS0FI1 Semantic dementia 6D83 Orphanet 100069 TPD-AS0FI1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-AS2FMU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AS2FMU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AS2FMU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AS2FMU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AS35U1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AS3OHK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AS3P5T Noonan syndrome LD2F.15 Orphanet 648 TPD-AS3P5T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AS3P5T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AS3P5T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AS3P5T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AS3P5T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AS3P5T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AS3P5T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AS3P5T Craniopharyngioma 2F9A Orphanet 54595 TPD-AS3P5T Cushing disease 5A70.0 Orphanet 96253 TPD-AS4EBQ Kennedy disease 8B61.4 Orphanet 481 TPD-AS4EBQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AS4EBQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AS4EBQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AS848B Noonan syndrome LD2F.15 Orphanet 648 TPD-AS848B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AS848B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AS848B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AS848B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AS848B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AS848B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AS848B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AS848B Craniopharyngioma 2F9A Orphanet 54595 TPD-AS848B Cushing disease 5A70.0 Orphanet 96253 TPD-ASDZGC Noonan syndrome LD2F.15 Orphanet 648 TPD-ASDZGC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ASDZGC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ASDZGC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ASDZGC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ASDZGC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ASDZGC Lynch syndrome 2B90.Y Orphanet 144 TPD-ASDZGC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ASDZGC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ASG29N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ASG29N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ASG29N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ASG29N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ASGOIH Noonan syndrome LD2F.15 Orphanet 648 TPD-ASGOIH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ASJFP3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ASTH12 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ASTH12 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ASTH12 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ASU6WY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ASU6WY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ASU6WY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ASU6WY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ASUUAI Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ASUYEO Kennedy disease 8B61.4 Orphanet 481 TPD-ASUYEO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ASUYEO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ASUYEO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ASWGU9 Weaver syndrome LD2C Orphanet 3447 TPD-ASWGU9 Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-AT78LD Kennedy disease 8B61.4 Orphanet 481 TPD-AT78LD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AT78LD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AT78LD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AT8ZE3 Kennedy disease 8B61.4 Orphanet 481 TPD-AT8ZE3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AT8ZE3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AT8ZE3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AT95XK Kennedy disease 8B61.4 Orphanet 481 TPD-AT95XK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AT95XK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AT95XK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AT9YDK Kennedy disease 8B61.4 Orphanet 481 TPD-AT9YDK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AT9YDK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AT9YDK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ATBWWE Noonan syndrome LD2F.15 Orphanet 648 TPD-ATBWWE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ATBWWE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ATBWWE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ATBWWE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ATBWWE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ATBWWE Lynch syndrome 2B90.Y Orphanet 144 TPD-ATBWWE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ATBWWE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ATBX61 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ATBX61 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ATG0Z2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ATG0Z2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ATGCGX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ATGCGX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ATJNBA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ATLMUF Kennedy disease 8B61.4 Orphanet 481 TPD-ATLMUF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ATLMUF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ATLMUF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ATN7U8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ATN7U8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ATN7U8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ATN7U8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ATRTOD Familial melanoma QC61.Y Orphanet 618 TPD-ATRTOD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ATRXS0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ATRXS0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ATRXS0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ATWVMX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AUAJDU Kennedy disease 8B61.4 Orphanet 481 TPD-AUAJDU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AUAJDU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AUAJDU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AUC255 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AUC255 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AUC255 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AUD0TP Familial melanoma QC61.Y Orphanet 618 TPD-AUD0TP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AUEVB5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AUFME0 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-AUKD1H Kennedy disease 8B61.4 Orphanet 481 TPD-AUKD1H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AUKD1H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AUKD1H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AUKHEE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AUPOO9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AUPOO9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AUPOO9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AUSBBH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AUSBBH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AUSBBH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AUSFL9 Kennedy disease 8B61.4 Orphanet 481 TPD-AUSFL9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AUSFL9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AUSFL9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AUT02F Kennedy disease 8B61.4 Orphanet 481 TPD-AUT02F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AUT02F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AUT02F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AUV0X1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AUV0X1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AUV0X1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AUWDCY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AUWDCY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AUZ6AU Kennedy disease 8B61.4 Orphanet 481 TPD-AUZ6AU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AUZ6AU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AUZ6AU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AUZC87 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AUZC87 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AUZC87 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AUZC87 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AV118N Noonan syndrome LD2F.15 Orphanet 648 TPD-AV118N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AV118N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AV118N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AV118N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AV118N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AV118N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AV118N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AV118N Craniopharyngioma 2F9A Orphanet 54595 TPD-AV118N Cushing disease 5A70.0 Orphanet 96253 TPD-AV27N3 Noonan syndrome LD2F.15 Orphanet 648 TPD-AV27N3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AV27N3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AV27N3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AV27N3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AV27N3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AV27N3 Lynch syndrome 2B90.Y Orphanet 144 TPD-AV27N3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AV27N3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AV4JV9 Kennedy disease 8B61.4 Orphanet 481 TPD-AV4JV9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AV4JV9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AV4JV9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AV6N46 Kennedy disease 8B61.4 Orphanet 481 TPD-AV6N46 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AV6N46 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AV6N46 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AV7C80 Noonan syndrome LD2F.15 Orphanet 648 TPD-AV7C80 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AV7C80 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AV7C80 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AV7C80 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AV7C80 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AV7C80 Lynch syndrome 2B90.Y Orphanet 144 TPD-AV7C80 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AV7C80 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AVAH6N Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-AVE3EJ Familial melanoma QC61.Y Orphanet 618 TPD-AVE3EJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AVIK2T Kennedy disease 8B61.4 Orphanet 481 TPD-AVIK2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AVIK2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AVIK2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AVIPRW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AVIPRW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AVIPRW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AVM1XM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AVNNS1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AVNNS1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AVNNS1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AVQ93V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AVWL5L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AVWL5L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AVWL5L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AVWZHM Kennedy disease 8B61.4 Orphanet 481 TPD-AVWZHM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AVWZHM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AVWZHM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AVYFRZ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-AVYFRZ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-AW0DDM Kennedy disease 8B61.4 Orphanet 481 TPD-AW0DDM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AW0DDM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AW0DDM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AW5KVI Kennedy disease 8B61.4 Orphanet 481 TPD-AW5KVI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AW5KVI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AW5KVI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AW9YU8 Achondroplasia LD24.00 Orphanet 15 TPD-AW9YU8 Hypochondroplasia LD24.01 Orphanet 429 TPD-AW9YU8 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-AW9YU8 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-AW9YU8 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-AW9YU8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AW9YU8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AW9YU8 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-AW9YU8 Muenke syndrome LD24.GY Orphanet 53271 TPD-AW9YU8 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-AW9YU8 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-AW9YU8 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-AWAH0J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AWAH0J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AWAH0J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AWAH0J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-AWJKIN Familial melanoma QC61.Y Orphanet 618 TPD-AWJKIN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AWMPZP Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-AWN2UO Noonan syndrome LD2F.15 Orphanet 648 TPD-AWN2UO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AWN2UO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AWN2UO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AWN2UO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AWN2UO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AWN2UO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AWN2UO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AWN2UO Craniopharyngioma 2F9A Orphanet 54595 TPD-AWN2UO Cushing disease 5A70.0 Orphanet 96253 TPD-AWNFOP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AWO8QP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AWO8QP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AWO8QP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AWOJ57 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AWOJ57 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AWOJ57 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AWT1GW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AWT1GW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AWT1GW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AWV5FK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AWVJT7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AWVJT7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AWVJT7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AX842F Noonan syndrome LD2F.15 Orphanet 648 TPD-AX842F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AX842F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AX842F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AX842F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AX842F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AX842F Lynch syndrome 2B90.Y Orphanet 144 TPD-AX842F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AX842F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AXC1YT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AXC1YT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AXC1YT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AXFHLG Noonan syndrome LD2F.15 Orphanet 648 TPD-AXFHLG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AXFHLG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AXFHLG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AXFHLG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AXFHLG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AXFHLG Lynch syndrome 2B90.Y Orphanet 144 TPD-AXFHLG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AXFHLG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AXH1MD Kennedy disease 8B61.4 Orphanet 481 TPD-AXH1MD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AXH1MD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AXH1MD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AXLB88 Kennedy disease 8B61.4 Orphanet 481 TPD-AXLB88 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AXLB88 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AXLB88 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AXLPOM Kennedy disease 8B61.4 Orphanet 481 TPD-AXLPOM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AXLPOM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AXLPOM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AXNGZW Kennedy disease 8B61.4 Orphanet 481 TPD-AXNGZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AXNGZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AXNGZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AXNOEH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AXR1K7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AXR1K7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AXR5UW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AXRTY0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AXRTY0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AXRTY0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AXU0J1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AXUQBC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-AXWXBG Noonan syndrome LD2F.15 Orphanet 648 TPD-AXWXBG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AXWXBG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AXWXBG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AXWXBG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AXWXBG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AXWXBG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AXWXBG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AXWXBG Craniopharyngioma 2F9A Orphanet 54595 TPD-AXWXBG Cushing disease 5A70.0 Orphanet 96253 TPD-AXZ8HP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AY6783 Kennedy disease 8B61.4 Orphanet 481 TPD-AY6783 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AY6783 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AY6783 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AY8EVA Kennedy disease 8B61.4 Orphanet 481 TPD-AY8EVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AY8EVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AY8EVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AY8VO6 Noonan syndrome LD2F.15 Orphanet 648 TPD-AY8VO6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-AYB2ZE Kennedy disease 8B61.4 Orphanet 481 TPD-AYB2ZE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AYB2ZE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AYB2ZE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AYG3CX Familial melanoma QC61.Y Orphanet 618 TPD-AYG3CX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AYIU41 Kennedy disease 8B61.4 Orphanet 481 TPD-AYIU41 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AYIU41 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AYIU41 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AYPOQT Kennedy disease 8B61.4 Orphanet 481 TPD-AYPOQT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AYPOQT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AYPOQT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AYTFS1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AYUODN Noonan syndrome LD2F.15 Orphanet 648 TPD-AYUODN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AYUODN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AYUODN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AYUODN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AYUODN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AYUODN Lynch syndrome 2B90.Y Orphanet 144 TPD-AYUODN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AYUODN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AYXSOA Kennedy disease 8B61.4 Orphanet 481 TPD-AYXSOA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AYXSOA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AYXSOA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AZ1YLI Kennedy disease 8B61.4 Orphanet 481 TPD-AZ1YLI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AZ1YLI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AZ1YLI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AZ34B9 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-AZ44Z7 Noonan syndrome LD2F.15 Orphanet 648 TPD-AZ44Z7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-AZ44Z7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-AZ44Z7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AZ44Z7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AZ44Z7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-AZ44Z7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-AZ44Z7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-AZ44Z7 Craniopharyngioma 2F9A Orphanet 54595 TPD-AZ44Z7 Cushing disease 5A70.0 Orphanet 96253 TPD-AZ4GCP Noonan syndrome LD2F.15 Orphanet 648 TPD-AZ4GCP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AZ4GCP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AZ4GCP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AZ4GCP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AZ4GCP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AZ4GCP Lynch syndrome 2B90.Y Orphanet 144 TPD-AZ4GCP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AZ4GCP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AZ5FI3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AZ6ES4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AZ6ES4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AZ8V24 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AZ96AL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AZ96AL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AZCH47 Noonan syndrome LD2F.15 Orphanet 648 TPD-AZCH47 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AZCH47 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AZCH47 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AZCH47 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AZCH47 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AZCH47 Lynch syndrome 2B90.Y Orphanet 144 TPD-AZCH47 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AZCH47 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AZDLJY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-AZDLJY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-AZDLJY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-AZFR9H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AZFR9H Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-AZIOF6 Noonan syndrome LD2F.15 Orphanet 648 TPD-AZIOF6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AZIOF6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AZIOF6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AZIOF6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AZIOF6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AZIOF6 Lynch syndrome 2B90.Y Orphanet 144 TPD-AZIOF6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AZIOF6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-AZN6GK Kennedy disease 8B61.4 Orphanet 481 TPD-AZN6GK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AZN6GK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AZN6GK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AZQXQ0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-AZQZMK Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-AZRTYJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-AZRTYJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-AZRTYJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-AZVDED Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AZVDED Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AZVDED Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AZW1TD Noonan syndrome LD2F.15 Orphanet 648 TPD-AZW1TD Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-AZW8HE Familial melanoma QC61.Y Orphanet 618 TPD-AZW8HE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-AZWQRQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-AZXKNR Kennedy disease 8B61.4 Orphanet 481 TPD-AZXKNR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-AZXKNR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-AZXKNR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-AZYNM2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-AZYT42 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-AZYT42 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-AZYT42 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-AZZ3TT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-AZZ3TT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-AZZVWC Noonan syndrome LD2F.15 Orphanet 648 TPD-AZZVWC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-AZZVWC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-AZZVWC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-AZZVWC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-AZZVWC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-AZZVWC Lynch syndrome 2B90.Y Orphanet 144 TPD-AZZVWC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-AZZVWC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B0084Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B0084Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B02D15 Kennedy disease 8B61.4 Orphanet 481 TPD-B02D15 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B02D15 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B02D15 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B06P85 Kennedy disease 8B61.4 Orphanet 481 TPD-B06P85 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B06P85 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B06P85 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B0ATRA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B0ATRA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B0DHYW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B0IRIW Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-B0K4S1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B0K4S1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B0K4S1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B0OFU4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B0OFU4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B0SR8J Kennedy disease 8B61.4 Orphanet 481 TPD-B0SR8J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B0SR8J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B0SR8J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B0X7PS Kennedy disease 8B61.4 Orphanet 481 TPD-B0X7PS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B0X7PS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B0X7PS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B0YF04 Kennedy disease 8B61.4 Orphanet 481 TPD-B0YF04 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B0YF04 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B0YF04 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B0YOVN Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-B0ZBVP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B14L3D Kennedy disease 8B61.4 Orphanet 481 TPD-B14L3D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B14L3D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B14L3D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B1BX2H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B1EI9G Familial melanoma QC61.Y Orphanet 618 TPD-B1EI9G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B1N43U Kennedy disease 8B61.4 Orphanet 481 TPD-B1N43U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B1N43U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B1N43U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B1NVJ9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B1NVJ9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B1NVJ9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B1NVJ9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-B1NVJ9 Neuroblastoma 2A00.11 Orphanet 635 TPD-B1NVJ9 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-B1NVJ9 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-B1NVJ9 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-B1NVJ9 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-B1RW7N Kennedy disease 8B61.4 Orphanet 481 TPD-B1RW7N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B1RW7N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B1RW7N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B1S6CS Noonan syndrome LD2F.15 Orphanet 648 TPD-B1S6CS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B1S6CS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B1S6CS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B1S6CS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B1S6CS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B1S6CS Lynch syndrome 2B90.Y Orphanet 144 TPD-B1S6CS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B1S6CS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B1T3O3 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-B1T3O3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-B1TE0S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-B1WNNC Noonan syndrome LD2F.15 Orphanet 648 TPD-B1WNNC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B1WNNC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B1WNNC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B1WNNC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B1WNNC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B1WNNC Lynch syndrome 2B90.Y Orphanet 144 TPD-B1WNNC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B1WNNC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B1YYHG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B1YYHG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B1YYHG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B20NL7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B20NL7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B20NL7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B20NL7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B220G6 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-B220G6 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-B220G6 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-B220G6 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-B220G6 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-B220G6 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-B220G6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B220G6 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-B220G6 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B248I8 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-B248I8 MODY 5A13.6 Orphanet 552 TPD-B248I8 Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-B248I8 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-B248I8 Williams syndrome LD44.70 Orphanet 904 TPD-B248I8 Seckel syndrome LD24.D Orphanet 808 TPD-B248I8 Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-B248I8 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-B262BA Familial melanoma QC61.Y Orphanet 618 TPD-B262BA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B26S1E Kennedy disease 8B61.4 Orphanet 481 TPD-B26S1E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B26S1E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B26S1E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B29L9I Kennedy disease 8B61.4 Orphanet 481 TPD-B29L9I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B29L9I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B29L9I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B2AG2D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B2AG2D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B2AG2D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B2F9T7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-B2FVJV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B2FVJV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B2ITNK Kennedy disease 8B61.4 Orphanet 481 TPD-B2ITNK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B2ITNK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B2ITNK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B2N8CQ Kennedy disease 8B61.4 Orphanet 481 TPD-B2N8CQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B2N8CQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B2N8CQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B2PEGN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B2PEGN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B2PEGN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B2PEGN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B2TKCK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B2TKCK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B2TKCK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B2UPMA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B2UPMA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B2UPMA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B2WFU0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B2WFU0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B2WFU0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B2Y44Z Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B2ZF49 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B2ZF49 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B2ZF49 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B30O21 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B30O21 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B30RRD Kennedy disease 8B61.4 Orphanet 481 TPD-B30RRD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B30RRD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B30RRD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B31OLW Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-B32QJU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B340FD Familial melanoma QC61.Y Orphanet 618 TPD-B340FD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B35J2A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B35J2A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B35J2A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B3BTLS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B3BTLS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B3BTLS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B3CAG0 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-B3CAG0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B3CAG0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-B3I4QX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B3I4QX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B3IQ04 Kennedy disease 8B61.4 Orphanet 481 TPD-B3IQ04 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B3IQ04 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B3IQ04 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B3JJRL Noonan syndrome LD2F.15 Orphanet 648 TPD-B3JJRL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B3JJRL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B3JJRL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B3JJRL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B3JJRL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B3JJRL Lynch syndrome 2B90.Y Orphanet 144 TPD-B3JJRL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B3JJRL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B3JR7K Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-B3KVOP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B3KVOP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B3KVOP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B3KVOP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-B3KVOP Neuroblastoma 2A00.11 Orphanet 635 TPD-B3KVOP Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-B3KVOP ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-B3KVOP ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-B3KVOP Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-B3NMTW Kennedy disease 8B61.4 Orphanet 481 TPD-B3NMTW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B3NMTW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B3NMTW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B3QG8H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B3QG8H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B3QG8H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B3QG8H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B3QMH2 Kennedy disease 8B61.4 Orphanet 481 TPD-B3QMH2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B3QMH2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B3QMH2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B3QTZB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B3R1J9 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-B3R1J9 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-B3S5DP Noonan syndrome LD2F.15 Orphanet 648 TPD-B3S5DP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B3S5DP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B3S5DP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B3S5DP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B3S5DP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B3S5DP Lynch syndrome 2B90.Y Orphanet 144 TPD-B3S5DP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B3S5DP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B3TFEK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B3XGAP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B3XGAP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B3XGAP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B3YZ6J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-B41STF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B41STF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B41STF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B42X4T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B42X4T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B46EVC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B4792I Noonan syndrome LD2F.15 Orphanet 648 TPD-B4792I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-B4792I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-B4792I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B4792I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B4792I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-B4792I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-B4792I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-B4792I Craniopharyngioma 2F9A Orphanet 54595 TPD-B4792I Cushing disease 5A70.0 Orphanet 96253 TPD-B483R0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-B483R0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-B483R0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-B483R0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-B483R0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-B483R0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-B483R0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B483R0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-B483R0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B48CEO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B48CEO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B48E9S Noonan syndrome LD2F.15 Orphanet 648 TPD-B48E9S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B48E9S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B48E9S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B48E9S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B48E9S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B48E9S Lynch syndrome 2B90.Y Orphanet 144 TPD-B48E9S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B48E9S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B49FLJ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-B49FQX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B49FQX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B49FQX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B4BZOQ Achondroplasia LD24.00 Orphanet 15 TPD-B4BZOQ Hypochondroplasia LD24.01 Orphanet 429 TPD-B4BZOQ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-B4BZOQ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-B4BZOQ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-B4BZOQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B4BZOQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B4BZOQ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-B4BZOQ Muenke syndrome LD24.GY Orphanet 53271 TPD-B4BZOQ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-B4BZOQ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-B4BZOQ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-B4EQ07 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B4G633 Kennedy disease 8B61.4 Orphanet 481 TPD-B4G633 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B4G633 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B4G633 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B4I5VB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-B4I5VB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-B4I5VB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-B4I5VB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-B4I5VB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-B4I5VB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-B4I5VB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B4I5VB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-B4I5VB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B4JBE3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B4JBE3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B4JBE3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B4JCPC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B4JCPC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B4LONE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B4LONE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B4LONE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B4QDTD Hirschsprung disease LB16.1 Orphanet 388 TPD-B4QDTD Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-B4QDTD Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-B4RPBA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B4RPBA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B511PY Kennedy disease 8B61.4 Orphanet 481 TPD-B511PY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B511PY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B511PY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B51V4Y Kennedy disease 8B61.4 Orphanet 481 TPD-B51V4Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B51V4Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B51V4Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B52SP7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B52SP7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B52SP7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B52W1E Kennedy disease 8B61.4 Orphanet 481 TPD-B52W1E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B52W1E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B52W1E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B56I59 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B56I59 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B56I59 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B5BVVU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-B5DMP0 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-B5DMP0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B5DMP0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-B5FCRT Kennedy disease 8B61.4 Orphanet 481 TPD-B5FCRT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B5FCRT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B5FCRT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B5G8PK Kennedy disease 8B61.4 Orphanet 481 TPD-B5G8PK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B5G8PK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B5G8PK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B5NSS1 Kennedy disease 8B61.4 Orphanet 481 TPD-B5NSS1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B5NSS1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B5NSS1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B5S8D7 Lynch syndrome 2B90.Y Orphanet 144 TPD-B5S8D7 Congenital tufting enteropathy DA90.Y Orphanet 92050 TPD-B5SZSC Kennedy disease 8B61.4 Orphanet 481 TPD-B5SZSC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B5SZSC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B5SZSC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B5UDV8 Noonan syndrome LD2F.15 Orphanet 648 TPD-B5UDV8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B5UDV8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B5UDV8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B5UDV8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B5UDV8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B5UDV8 Lynch syndrome 2B90.Y Orphanet 144 TPD-B5UDV8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B5UDV8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B5XAUC Noonan syndrome LD2F.15 Orphanet 648 TPD-B5XAUC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B5XAUC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B5XAUC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B5XAUC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B5XAUC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B5XAUC Lynch syndrome 2B90.Y Orphanet 144 TPD-B5XAUC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B5XAUC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B5XKPN Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-B60A55 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B60A55 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B60A55 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B60FYD Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-B632KS Kennedy disease 8B61.4 Orphanet 481 TPD-B632KS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B632KS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B632KS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B63POJ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-B63POJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B63POJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B63POJ Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-B63POJ Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-B63POJ Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-B63POJ Osteosarcoma 2B51 Orphanet 668 TPD-B63POJ Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-B63POJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B63POJ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-B63POJ Small cell lung cancer 2C25.1 Orphanet 70573 TPD-B63POJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B63POJ Cushing disease 5A70.0 Orphanet 96253 TPD-B63POJ Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-B63POJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B63XJU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B6APB0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B6APB0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B6APB0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B6APB0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B6H0WV Kennedy disease 8B61.4 Orphanet 481 TPD-B6H0WV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B6H0WV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B6H0WV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B6HE9B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B6HE9B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B6KXZO Noonan syndrome LD2F.15 Orphanet 648 TPD-B6KXZO Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-B6NDDH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B6PLNS Kennedy disease 8B61.4 Orphanet 481 TPD-B6PLNS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B6PLNS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B6PLNS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B6TIYQ Noonan syndrome LD2F.15 Orphanet 648 TPD-B6TIYQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-B6TIYQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-B6TIYQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B6TIYQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B6TIYQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-B6TIYQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-B6TIYQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-B6TIYQ Craniopharyngioma 2F9A Orphanet 54595 TPD-B6TIYQ Cushing disease 5A70.0 Orphanet 96253 TPD-B6WCOB Noonan syndrome LD2F.15 Orphanet 648 TPD-B6WCOB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B6WCOB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B6WCOB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B6WCOB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B6WCOB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B6WCOB Lynch syndrome 2B90.Y Orphanet 144 TPD-B6WCOB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B6WCOB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B6X7WB Noonan syndrome LD2F.15 Orphanet 648 TPD-B6X7WB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B6X7WB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B6X7WB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B6X7WB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B6X7WB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B6X7WB Lynch syndrome 2B90.Y Orphanet 144 TPD-B6X7WB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B6X7WB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B6XP49 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B6XP49 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B6XP49 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B6XP49 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B6XWXA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B6XWXA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B6Z6F3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-B70RJL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B71PJW Kennedy disease 8B61.4 Orphanet 481 TPD-B71PJW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B71PJW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B71PJW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B754VH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B754VH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B75OG9 Noonan syndrome LD2F.15 Orphanet 648 TPD-B75OG9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B75OG9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B75OG9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B75OG9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B75OG9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B75OG9 Lynch syndrome 2B90.Y Orphanet 144 TPD-B75OG9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B75OG9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B77RAR Kennedy disease 8B61.4 Orphanet 481 TPD-B77RAR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B77RAR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B77RAR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B794C9 Idiopathic pulmonary fibrosis CB03.4 Orphanet 2032 TPD-B79D21 Familial melanoma QC61.Y Orphanet 618 TPD-B79D21 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B79RFZ Kennedy disease 8B61.4 Orphanet 481 TPD-B79RFZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B79RFZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B79RFZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B7B7AO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B7B7AO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B7B7AO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B7FR33 Kennedy disease 8B61.4 Orphanet 481 TPD-B7FR33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B7FR33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B7FR33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B7KGIF Noonan syndrome LD2F.15 Orphanet 648 TPD-B7KGIF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B7KGIF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B7KGIF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B7KGIF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B7KGIF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B7KGIF Lynch syndrome 2B90.Y Orphanet 144 TPD-B7KGIF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B7KGIF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B7NPCC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B7NPCC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B7NPCC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B7PYK5 Noonan syndrome LD2F.15 Orphanet 648 TPD-B7PYK5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B7PYK5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B7PYK5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B7PYK5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B7PYK5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B7PYK5 Lynch syndrome 2B90.Y Orphanet 144 TPD-B7PYK5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B7PYK5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B7U64L Noonan syndrome LD2F.15 Orphanet 648 TPD-B7U64L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-B7U64L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-B7U64L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B7U64L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B7U64L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-B7U64L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-B7U64L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-B7U64L Craniopharyngioma 2F9A Orphanet 54595 TPD-B7U64L Cushing disease 5A70.0 Orphanet 96253 TPD-B7WX40 Kennedy disease 8B61.4 Orphanet 481 TPD-B7WX40 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B7WX40 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B7WX40 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B7YXNO Noonan syndrome LD2F.15 Orphanet 648 TPD-B7YXNO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B7YXNO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B7YXNO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B7YXNO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B7YXNO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B7YXNO Lynch syndrome 2B90.Y Orphanet 144 TPD-B7YXNO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B7YXNO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B7YZYL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B7YZYL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B7YZYL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B7YZYL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B80ODV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B80ODV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B8208B Kennedy disease 8B61.4 Orphanet 481 TPD-B8208B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B8208B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B8208B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B86LN2 Kennedy disease 8B61.4 Orphanet 481 TPD-B86LN2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B86LN2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B86LN2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B88XVF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B88XVF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B88XVF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B88XVF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B8D7WF Noonan syndrome LD2F.15 Orphanet 648 TPD-B8D7WF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-B8FNO0 Familial melanoma QC61.Y Orphanet 618 TPD-B8FNO0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B8HROO Noonan syndrome LD2F.15 Orphanet 648 TPD-B8HROO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B8HROO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B8HROO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B8HROO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B8HROO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B8HROO Lynch syndrome 2B90.Y Orphanet 144 TPD-B8HROO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B8HROO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B8KIFN Kennedy disease 8B61.4 Orphanet 481 TPD-B8KIFN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B8KIFN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B8KIFN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B8SCGH Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-B8SZAR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-B8SZAR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-B917T4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-B917T4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-B917T4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-B91PKG Kennedy disease 8B61.4 Orphanet 481 TPD-B91PKG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B91PKG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B91PKG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B925NW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B925NW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B925NW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B926Y8 Noonan syndrome LD2F.15 Orphanet 648 TPD-B926Y8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B926Y8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B926Y8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B926Y8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B926Y8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B926Y8 Lynch syndrome 2B90.Y Orphanet 144 TPD-B926Y8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B926Y8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B92V55 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-B92V55 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-B97LPU Hereditary atrial fibrillation BC65.Y Orphanet 334 TPD-B97LPU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-B97PN5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-B97PN5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-B97PN5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-B97PN5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-B97VZF Familial melanoma QC61.Y Orphanet 618 TPD-B97VZF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-B988KE Noonan syndrome LD2F.15 Orphanet 648 TPD-B988KE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B988KE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B988KE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B988KE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B988KE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B988KE Lynch syndrome 2B90.Y Orphanet 144 TPD-B988KE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B988KE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B99HGC Kennedy disease 8B61.4 Orphanet 481 TPD-B99HGC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B99HGC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B99HGC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B9AXI0 Hirschsprung disease LB16.1 Orphanet 388 TPD-B9AXI0 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-B9AXI0 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-B9CGEO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-B9CGEO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-B9E442 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-B9E442 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-B9E442 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-B9HSW7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-B9HSW7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-B9HVXV Kennedy disease 8B61.4 Orphanet 481 TPD-B9HVXV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B9HVXV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B9HVXV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B9IDZW Noonan syndrome LD2F.15 Orphanet 648 TPD-B9IDZW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-B9IDZW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-B9IDZW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-B9IDZW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-B9IDZW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-B9IDZW Lynch syndrome 2B90.Y Orphanet 144 TPD-B9IDZW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-B9IDZW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-B9KSHH Kennedy disease 8B61.4 Orphanet 481 TPD-B9KSHH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-B9KSHH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-B9KSHH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-B9Q0U7 Noonan syndrome LD2F.15 Orphanet 648 TPD-B9Q0U7 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-B9QD8O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-B9Y7KM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BA6GFB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BA9T3O Kennedy disease 8B61.4 Orphanet 481 TPD-BA9T3O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BA9T3O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BA9T3O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BAAOR1 Kennedy disease 8B61.4 Orphanet 481 TPD-BAAOR1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BAAOR1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BAAOR1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BAHA33 Kennedy disease 8B61.4 Orphanet 481 TPD-BAHA33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BAHA33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BAHA33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BAIIQC Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-BALPBB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BALPBB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BALPBB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BAM6IS Noonan syndrome LD2F.15 Orphanet 648 TPD-BAM6IS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BAM6IS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BAM6IS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BAM6IS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BAM6IS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BAM6IS Lynch syndrome 2B90.Y Orphanet 144 TPD-BAM6IS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BAM6IS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BAMSSZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BAMSSZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BAMSSZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BAOSIP Noonan syndrome LD2F.15 Orphanet 648 TPD-BAOSIP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BAOSIP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BAOSIP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BAOSIP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BAOSIP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BAOSIP Lynch syndrome 2B90.Y Orphanet 144 TPD-BAOSIP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BAOSIP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BAP6VQ Familial melanoma QC61.Y Orphanet 618 TPD-BAP6VQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BAUDOW Kennedy disease 8B61.4 Orphanet 481 TPD-BAUDOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BAUDOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BAUDOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BAY5FQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BAYLQY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BAZCVS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BB0NGY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BB0NGY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BB8I3B Kennedy disease 8B61.4 Orphanet 481 TPD-BB8I3B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BB8I3B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BB8I3B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BBARKK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BBBL2E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BBBL2E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BBBL2E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BBDXLW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BBJ4HQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BBJ4HQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BBJ4HQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BBJ4HQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BBP984 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BBP984 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BBQ458 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BBQ458 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BBQ458 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BBRFMO Familial melanoma QC61.Y Orphanet 618 TPD-BBRFMO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BBSGSH Kennedy disease 8B61.4 Orphanet 481 TPD-BBSGSH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BBSGSH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BBSGSH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BBTF1C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BBTF1C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BBZFVU Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BBZFVU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BC1R84 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-BC1R84 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-BC1R84 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-BC1R84 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-BC1R84 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-BC1R84 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-BC1R84 Semantic dementia 6D83 Orphanet 100069 TPD-BC1R84 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-BC7Q10 Kennedy disease 8B61.4 Orphanet 481 TPD-BC7Q10 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BC7Q10 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BC7Q10 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BC8KGK Kennedy disease 8B61.4 Orphanet 481 TPD-BC8KGK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BC8KGK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BC8KGK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BCB2LT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BCB2LT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BCB2LT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BCGW06 Noonan syndrome LD2F.15 Orphanet 648 TPD-BCGW06 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BCGW06 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BCGW06 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BCGW06 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BCGW06 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BCGW06 Lynch syndrome 2B90.Y Orphanet 144 TPD-BCGW06 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BCGW06 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BCKJ44 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BCKJ44 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BCRJZW Kennedy disease 8B61.4 Orphanet 481 TPD-BCRJZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BCRJZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BCRJZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BCS9BK Noonan syndrome LD2F.15 Orphanet 648 TPD-BCS9BK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BCS9BK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BCS9BK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BCS9BK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BCS9BK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BCS9BK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BCS9BK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BCS9BK Craniopharyngioma 2F9A Orphanet 54595 TPD-BCS9BK Cushing disease 5A70.0 Orphanet 96253 TPD-BCTELE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BCTELE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BCTELE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BCV2R8 Kennedy disease 8B61.4 Orphanet 481 TPD-BCV2R8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BCV2R8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BCV2R8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BCYATJ Noonan syndrome LD2F.15 Orphanet 648 TPD-BCYATJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BCYATJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BCYATJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BCYATJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BCYATJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BCYATJ Lynch syndrome 2B90.Y Orphanet 144 TPD-BCYATJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BCYATJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BCZ4LA Kennedy disease 8B61.4 Orphanet 481 TPD-BCZ4LA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BCZ4LA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BCZ4LA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BCZZPY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BCZZPY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BCZZPY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BD2RHQ Noonan syndrome LD2F.15 Orphanet 648 TPD-BD2RHQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BD7EK2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BD8L8V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BD92SX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BDBOF2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BDBOF2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BDE4O5 Kennedy disease 8B61.4 Orphanet 481 TPD-BDE4O5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BDE4O5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BDE4O5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BDJDHO Noonan syndrome LD2F.15 Orphanet 648 TPD-BDJDHO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BDJDHO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BDJDHO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BDJDHO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BDJDHO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BDJDHO Lynch syndrome 2B90.Y Orphanet 144 TPD-BDJDHO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BDJDHO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BDJJII Kennedy disease 8B61.4 Orphanet 481 TPD-BDJJII Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BDJJII Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BDJJII Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BDLPGF Noonan syndrome LD2F.15 Orphanet 648 TPD-BDLPGF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BDLPGF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BDLPGF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BDLPGF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BDLPGF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BDLPGF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BDLPGF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BDLPGF Craniopharyngioma 2F9A Orphanet 54595 TPD-BDLPGF Cushing disease 5A70.0 Orphanet 96253 TPD-BDM0CF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-BDM0CF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-BDM0CF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-BDM0CF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-BDM0CF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-BDM0CF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-BDM0CF Semantic dementia 6D83 Orphanet 100069 TPD-BDM0CF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-BDNZ9G Noonan syndrome LD2F.15 Orphanet 648 TPD-BDNZ9G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BDNZ9G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BDNZ9G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BDNZ9G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BDNZ9G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BDNZ9G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BDNZ9G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BDNZ9G Craniopharyngioma 2F9A Orphanet 54595 TPD-BDNZ9G Cushing disease 5A70.0 Orphanet 96253 TPD-BDOFWH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BDOFWH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BDOVI2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BDR46W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BDR46W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BE14UX Kennedy disease 8B61.4 Orphanet 481 TPD-BE14UX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BE14UX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BE14UX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BE59GC Noonan syndrome LD2F.15 Orphanet 648 TPD-BE59GC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BE59GC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BE59GC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BE59GC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BE59GC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BE59GC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BE59GC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BE59GC Craniopharyngioma 2F9A Orphanet 54595 TPD-BE59GC Cushing disease 5A70.0 Orphanet 96253 TPD-BE5CDM Familial melanoma QC61.Y Orphanet 618 TPD-BE5CDM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BE6WAY Noonan syndrome LD2F.15 Orphanet 648 TPD-BE6WAY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BE6WAY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BE6WAY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BE6WAY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BE6WAY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BE6WAY Lynch syndrome 2B90.Y Orphanet 144 TPD-BE6WAY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BE6WAY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BE7WOH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BEA5IX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BEAE6T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BEAE6T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BEAE6T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BEBXAQ Kennedy disease 8B61.4 Orphanet 481 TPD-BEBXAQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BEBXAQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BEBXAQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BEHKUC Familial melanoma QC61.Y Orphanet 618 TPD-BEHKUC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BELA0D Noonan syndrome LD2F.15 Orphanet 648 TPD-BELA0D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BELA0D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BELA0D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BELA0D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BELA0D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BELA0D Lynch syndrome 2B90.Y Orphanet 144 TPD-BELA0D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BELA0D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BEPSUX Noonan syndrome LD2F.15 Orphanet 648 TPD-BEPSUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BEPSUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BEPSUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BEPSUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BEPSUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BEPSUX Lynch syndrome 2B90.Y Orphanet 144 TPD-BEPSUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BEPSUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BEPSZI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BEPSZI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BETOHM Noonan syndrome LD2F.15 Orphanet 648 TPD-BETOHM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BETOHM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BETOHM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BETOHM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BETOHM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BETOHM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BETOHM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BETOHM Craniopharyngioma 2F9A Orphanet 54595 TPD-BETOHM Cushing disease 5A70.0 Orphanet 96253 TPD-BETY0Y Kennedy disease 8B61.4 Orphanet 481 TPD-BETY0Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BETY0Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BETY0Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BEUK15 Noonan syndrome LD2F.15 Orphanet 648 TPD-BEUK15 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BEUK15 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BEUK15 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BEUK15 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BEUK15 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BEUK15 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BEUK15 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BEUK15 Craniopharyngioma 2F9A Orphanet 54595 TPD-BEUK15 Cushing disease 5A70.0 Orphanet 96253 TPD-BEV4RO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BEV4RO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BEV4RO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BEV4RO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BEVOYG Noonan syndrome LD2F.15 Orphanet 648 TPD-BEVOYG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BEVOYG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BEVOYG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BEVOYG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BEVOYG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BEVOYG Lynch syndrome 2B90.Y Orphanet 144 TPD-BEVOYG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BEVOYG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BEWWHB Kennedy disease 8B61.4 Orphanet 481 TPD-BEWWHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BEWWHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BEWWHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BEY1CT Familial melanoma QC61.Y Orphanet 618 TPD-BEY1CT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BEZ147 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BEZ147 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BF1DMI Noonan syndrome LD2F.15 Orphanet 648 TPD-BF1DMI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BF1DMI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BF1DMI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BF1DMI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BF1DMI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BF1DMI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BF1DMI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BF1DMI Craniopharyngioma 2F9A Orphanet 54595 TPD-BF1DMI Cushing disease 5A70.0 Orphanet 96253 TPD-BF1DMI Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-BF40HK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BF40HK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BF4UXT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BF4UXT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BF4ZVA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BF4ZVA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BF77HS Kennedy disease 8B61.4 Orphanet 481 TPD-BF77HS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BF77HS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BF77HS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BF9EO8 Noonan syndrome LD2F.15 Orphanet 648 TPD-BF9EO8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BF9EO8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BF9EO8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BF9EO8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BF9EO8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BF9EO8 Lynch syndrome 2B90.Y Orphanet 144 TPD-BF9EO8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BF9EO8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BFA1BI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BFA1BI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BFAIBE Kennedy disease 8B61.4 Orphanet 481 TPD-BFAIBE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BFAIBE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BFAIBE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BFAZ5U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BFBAU4 Familial melanoma QC61.Y Orphanet 618 TPD-BFBAU4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BFCE6B Papillary renal cell carcinoma 2C90.Y Orphanet 319298 TPD-BFCE6B Hereditary papillary renal cell carcinoma 2C90.Y Orphanet 47044 TPD-BFCE6B Rare autosomal recessive non-syndromic sensorineural deafness type DFNB AB50 Orphanet 90636 TPD-BFCE6B Retinitis pigmentosa 9B70 Orphanet 791 TPD-BFF8NM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BFH475 Kennedy disease 8B61.4 Orphanet 481 TPD-BFH475 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BFH475 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BFH475 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BFHRY8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BFKQBS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BFLJ4M Kennedy disease 8B61.4 Orphanet 481 TPD-BFLJ4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BFLJ4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BFLJ4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BFMJZY Noonan syndrome LD2F.15 Orphanet 648 TPD-BFMJZY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BFPHKL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BFQ0OM Kennedy disease 8B61.4 Orphanet 481 TPD-BFQ0OM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BFQ0OM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BFQ0OM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BFS0S8 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-BFU8XQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BFUR0A Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-BFUR0A Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-BFUR0A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BFUR0A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BFUR0A Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-BFUR0A Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-BFXQ2G Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-BFYX9U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BFYX9U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BFYX9U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BG3L6Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BG3L6Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BG3L6Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BG3PAY Noonan syndrome LD2F.15 Orphanet 648 TPD-BG3PAY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BG3PAY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BG3PAY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BG3PAY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BG3PAY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BG3PAY Lynch syndrome 2B90.Y Orphanet 144 TPD-BG3PAY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BG3PAY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BG9BK0 Familial melanoma QC61.Y Orphanet 618 TPD-BG9BK0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BG9E37 Kennedy disease 8B61.4 Orphanet 481 TPD-BG9E37 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BG9E37 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BG9E37 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BGB87R Noonan syndrome LD2F.15 Orphanet 648 TPD-BGB87R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BGB87R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BGB87R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BGB87R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BGB87R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BGB87R Lynch syndrome 2B90.Y Orphanet 144 TPD-BGB87R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BGB87R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BGCUTN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BGCUTN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BGF65Y Noonan syndrome LD2F.15 Orphanet 648 TPD-BGF65Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BGF65Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BGF65Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BGF65Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BGF65Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BGF65Y Lynch syndrome 2B90.Y Orphanet 144 TPD-BGF65Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BGF65Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BGFGUU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BGFGUU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BGFGUU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BGFGUU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BGGEOC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BGHHO6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BGHOCM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BGHOCM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BGKQGL Weaver syndrome LD2C Orphanet 3447 TPD-BGL4DB Kennedy disease 8B61.4 Orphanet 481 TPD-BGL4DB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BGL4DB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BGL4DB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BGLZ6F Noonan syndrome LD2F.15 Orphanet 648 TPD-BGLZ6F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BGLZ6F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BGLZ6F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BGLZ6F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BGLZ6F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BGLZ6F Lynch syndrome 2B90.Y Orphanet 144 TPD-BGLZ6F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BGLZ6F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BGMC4Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BGMC4Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BGMC4Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BGMC4Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BGQ9OR Kennedy disease 8B61.4 Orphanet 481 TPD-BGQ9OR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BGQ9OR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BGQ9OR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BGXHTK Noonan syndrome LD2F.15 Orphanet 648 TPD-BGXHTK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BGXHTK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BGXHTK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BGXHTK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BGXHTK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BGXHTK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BGXHTK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BGXHTK Craniopharyngioma 2F9A Orphanet 54595 TPD-BGXHTK Cushing disease 5A70.0 Orphanet 96253 TPD-BH27WC Noonan syndrome LD2F.15 Orphanet 648 TPD-BH27WC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BH27WC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BH27WC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BH27WC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BH27WC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BH27WC Lynch syndrome 2B90.Y Orphanet 144 TPD-BH27WC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BH27WC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BH2BH9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BH2BH9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BH3VCU Noonan syndrome LD2F.15 Orphanet 648 TPD-BH3VCU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BH3VCU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BH3VCU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BH3VCU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BH3VCU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BH3VCU Lynch syndrome 2B90.Y Orphanet 144 TPD-BH3VCU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BH3VCU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BH69LL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BH69LL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BH69LL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BH8BUB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BHA336 Noonan syndrome LD2F.15 Orphanet 648 TPD-BHA336 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BHA336 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BHA336 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BHA336 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BHA336 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BHA336 Lynch syndrome 2B90.Y Orphanet 144 TPD-BHA336 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BHA336 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BHBZM0 Noonan syndrome LD2F.15 Orphanet 648 TPD-BHBZM0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BHBZM0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BHBZM0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BHBZM0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BHBZM0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BHBZM0 Lynch syndrome 2B90.Y Orphanet 144 TPD-BHBZM0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BHBZM0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BHF20W Kennedy disease 8B61.4 Orphanet 481 TPD-BHF20W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BHF20W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BHF20W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BHFA5L Noonan syndrome LD2F.15 Orphanet 648 TPD-BHFA5L Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BHG38J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BHI6E1 Noonan syndrome LD2F.15 Orphanet 648 TPD-BHI6E1 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BHJIFX Noonan syndrome LD2F.15 Orphanet 648 TPD-BHJIFX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BHJIFX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BHJIFX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BHJIFX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BHJIFX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BHJIFX Lynch syndrome 2B90.Y Orphanet 144 TPD-BHJIFX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BHJIFX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BHMH1V Kennedy disease 8B61.4 Orphanet 481 TPD-BHMH1V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BHMH1V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BHMH1V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BHN7L8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BHN7L8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BHX2T2 Kennedy disease 8B61.4 Orphanet 481 TPD-BHX2T2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BHX2T2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BHX2T2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BHZ2L5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BHZ2L5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BHZ2L5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BHZ2L5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BI0D3E Kennedy disease 8B61.4 Orphanet 481 TPD-BI0D3E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BI0D3E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BI0D3E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BI17H4 Kennedy disease 8B61.4 Orphanet 481 TPD-BI17H4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BI17H4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BI17H4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BI3DCI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BI51G0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BI5D0Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BI5D0Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BI5HUO Kennedy disease 8B61.4 Orphanet 481 TPD-BI5HUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BI5HUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BI5HUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BI6T95 Familial melanoma QC61.Y Orphanet 618 TPD-BI6T95 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BI7K6O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BI7K6O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BI7ZDW Noonan syndrome LD2F.15 Orphanet 648 TPD-BI7ZDW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BI7ZDW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BI7ZDW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BI7ZDW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BI7ZDW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BI7ZDW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BI7ZDW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BI7ZDW Craniopharyngioma 2F9A Orphanet 54595 TPD-BI7ZDW Cushing disease 5A70.0 Orphanet 96253 TPD-BI8R73 Kennedy disease 8B61.4 Orphanet 481 TPD-BI8R73 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BI8R73 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BI8R73 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BIBRX5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BIBRX5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BIBRX5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BIDAYT Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BIDAYT Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BIDAYT Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-BIERVJ Kennedy disease 8B61.4 Orphanet 481 TPD-BIERVJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BIERVJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BIERVJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BIHXQU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-BIHXQU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-BIHZYS Kennedy disease 8B61.4 Orphanet 481 TPD-BIHZYS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BIHZYS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BIHZYS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BIKWG8 Kennedy disease 8B61.4 Orphanet 481 TPD-BIKWG8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BIKWG8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BIKWG8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BISUF9 Noonan syndrome LD2F.15 Orphanet 648 TPD-BISUF9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BISUF9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BISUF9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BISUF9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BISUF9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BISUF9 Lynch syndrome 2B90.Y Orphanet 144 TPD-BISUF9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BISUF9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BITELX Kennedy disease 8B61.4 Orphanet 481 TPD-BITELX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BITELX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BITELX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BIUPBL Noonan syndrome LD2F.15 Orphanet 648 TPD-BIUPBL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BIUPBL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BIUPBL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BIUPBL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BIUPBL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BIUPBL Lynch syndrome 2B90.Y Orphanet 144 TPD-BIUPBL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BIUPBL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BIW6X2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BIW6X2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BIW6X2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BIYTWU Noonan syndrome LD2F.15 Orphanet 648 TPD-BIYTWU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BIYTWU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BIYTWU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BIYTWU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BIYTWU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BIYTWU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BIYTWU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BIYTWU Craniopharyngioma 2F9A Orphanet 54595 TPD-BIYTWU Cushing disease 5A70.0 Orphanet 96253 TPD-BIZ13N Kennedy disease 8B61.4 Orphanet 481 TPD-BIZ13N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BIZ13N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BIZ13N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BJ1Q32 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BJ4PGK Noonan syndrome LD2F.15 Orphanet 648 TPD-BJ4PGK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BJ4PGK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BJ4PGK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BJ4PGK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BJ4PGK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BJ4PGK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BJ4PGK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BJ4PGK Craniopharyngioma 2F9A Orphanet 54595 TPD-BJ4PGK Cushing disease 5A70.0 Orphanet 96253 TPD-BJ8JQS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BJ8JQS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BJ8JQS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BJ8JQS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BJC1WT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BJC1WT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BJCB8I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BJCB8I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BJCB8I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BJD73J Noonan syndrome LD2F.15 Orphanet 648 TPD-BJD73J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BJD73J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BJD73J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BJD73J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BJD73J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BJD73J Lynch syndrome 2B90.Y Orphanet 144 TPD-BJD73J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BJD73J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BJDZ82 Noonan syndrome LD2F.15 Orphanet 648 TPD-BJDZ82 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BJDZ82 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BJDZ82 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BJDZ82 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BJDZ82 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BJDZ82 Lynch syndrome 2B90.Y Orphanet 144 TPD-BJDZ82 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BJDZ82 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BJEZW1 Noonan syndrome LD2F.15 Orphanet 648 TPD-BJEZW1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BJEZW1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BJEZW1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BJEZW1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BJEZW1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BJEZW1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BJEZW1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BJEZW1 Craniopharyngioma 2F9A Orphanet 54595 TPD-BJEZW1 Cushing disease 5A70.0 Orphanet 96253 TPD-BJF284 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BJHKN5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BJHKN5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BJHKN5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BJHKN5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BJKFWC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BJKFWC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BJL3PF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BJL3PF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BJP2I6 Kennedy disease 8B61.4 Orphanet 481 TPD-BJP2I6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BJP2I6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BJP2I6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BJQAUA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BJRBA8 Familial melanoma QC61.Y Orphanet 618 TPD-BJRBA8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BJTR74 Kennedy disease 8B61.4 Orphanet 481 TPD-BJTR74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BJTR74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BJTR74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BJUFNP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BJXLOT Familial melanoma QC61.Y Orphanet 618 TPD-BJXLOT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BJXWKB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BJXWKB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BJXWKB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BK39I9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BK39I9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BK39I9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BK50TB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-BK50TB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BK5DKF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BK5F21 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BK74VX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BKFLHQ Kennedy disease 8B61.4 Orphanet 481 TPD-BKFLHQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BKFLHQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BKFLHQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BKGK32 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BKGK32 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BKGK32 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BKN68Q Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BKN68Q Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BKN7OB Familial melanoma QC61.Y Orphanet 618 TPD-BKN7OB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BKPCDJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BKPCDJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BKPCDJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BKPCDJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BKRI9U Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-BKSFTL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BKSFTL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BKSFTL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BKSZ6G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BKUAK4 Noonan syndrome LD2F.15 Orphanet 648 TPD-BKUAK4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BKUAK4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BKUAK4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BKUAK4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BKUAK4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BKUAK4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BKUAK4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BKUAK4 Craniopharyngioma 2F9A Orphanet 54595 TPD-BKUAK4 Cushing disease 5A70.0 Orphanet 96253 TPD-BKVA3K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BKVA3K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BKVA3K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BKVA3K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BKY8FB Kennedy disease 8B61.4 Orphanet 481 TPD-BKY8FB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BKY8FB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BKY8FB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BL00TC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BL0NF7 Noonan syndrome LD2F.15 Orphanet 648 TPD-BL0NF7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BL0NF7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BL0NF7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BL0NF7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BL0NF7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BL0NF7 Lynch syndrome 2B90.Y Orphanet 144 TPD-BL0NF7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BL0NF7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BL1WA6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BL1WA6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BL1WA6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BL3I3E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BL3I3E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BL563T Achondroplasia LD24.00 Orphanet 15 TPD-BL563T Hypochondroplasia LD24.01 Orphanet 429 TPD-BL563T Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-BL563T Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-BL563T Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-BL563T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BL563T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BL563T Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-BL563T Muenke syndrome LD24.GY Orphanet 53271 TPD-BL563T Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-BL563T Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-BL563T Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-BL9D46 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-BLCKHN Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-BLCKHN Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-BLCKHN Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-BLCKHN Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-BLCKHN Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-BLCKHN Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-BLCKHN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BLCKHN Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-BLCKHN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BLF9E2 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-BLFOVS Noonan syndrome LD2F.15 Orphanet 648 TPD-BLFOVS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BLFOVS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BLFOVS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BLFOVS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BLFOVS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BLFOVS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BLFOVS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BLFOVS Craniopharyngioma 2F9A Orphanet 54595 TPD-BLFOVS Cushing disease 5A70.0 Orphanet 96253 TPD-BLI1WJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BLP2CL Noonan syndrome LD2F.15 Orphanet 648 TPD-BLP2CL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BLP2CL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BLP2CL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BLP2CL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BLP2CL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BLP2CL Lynch syndrome 2B90.Y Orphanet 144 TPD-BLP2CL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BLP2CL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BLQMSV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BLQSSQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BLQSSQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BLUBX2 Kennedy disease 8B61.4 Orphanet 481 TPD-BLUBX2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BLUBX2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BLUBX2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BLX34H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BLX34H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BLX34H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BLY5IV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BLY5IV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BM0HWV Noonan syndrome LD2F.15 Orphanet 648 TPD-BM0HWV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BM0HWV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BM0HWV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BM0HWV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BM0HWV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BM0HWV Lynch syndrome 2B90.Y Orphanet 144 TPD-BM0HWV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BM0HWV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BM2KAE Noonan syndrome LD2F.15 Orphanet 648 TPD-BM2KAE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BM2KAE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BM2KAE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BM2KAE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BM2KAE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BM2KAE Lynch syndrome 2B90.Y Orphanet 144 TPD-BM2KAE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BM2KAE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BM39VG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BM39VG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BM39VG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BM4A6B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BM4A6B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BM4A6B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BM4A6B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BM6EVQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BM6EVQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BM6EVQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BM997F Noonan syndrome LD2F.15 Orphanet 648 TPD-BM997F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BM997F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BM997F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BM997F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BM997F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BM997F Lynch syndrome 2B90.Y Orphanet 144 TPD-BM997F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BM997F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BMA48G Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BMCW1S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BMEDK1 Familial melanoma QC61.Y Orphanet 618 TPD-BMEDK1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BMG3K0 Noonan syndrome LD2F.15 Orphanet 648 TPD-BMG3K0 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BMHCQ9 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-BMJGPU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BMRDMP Kennedy disease 8B61.4 Orphanet 481 TPD-BMRDMP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BMRDMP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BMRDMP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BMS3US Kennedy disease 8B61.4 Orphanet 481 TPD-BMS3US Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BMS3US Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BMS3US Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BMS4NB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BMT4NS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BMT4NS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BMTRK1 Familial melanoma QC61.Y Orphanet 618 TPD-BMTRK1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BMVE0U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BMWOX0 Kennedy disease 8B61.4 Orphanet 481 TPD-BMWOX0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BMWOX0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BMWOX0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BMZ8OX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BMZ8OX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BN17J9 Kennedy disease 8B61.4 Orphanet 481 TPD-BN17J9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BN17J9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BN17J9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BN4TJS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BN4TJS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BN625B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BN625B Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BN7R00 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BN7R00 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BN7R00 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BN8FDJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BNDDH4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BNDDH4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BNDDH4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BNDJCU Kennedy disease 8B61.4 Orphanet 481 TPD-BNDJCU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BNDJCU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BNDJCU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BNOHRQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BNOHRQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BNQCVI Kennedy disease 8B61.4 Orphanet 481 TPD-BNQCVI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BNQCVI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BNQCVI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BNR5QC Familial melanoma QC61.Y Orphanet 618 TPD-BNR5QC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BNSMZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BNSMZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BNSMZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BNSMZR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BNTPFR Noonan syndrome LD2F.15 Orphanet 648 TPD-BNTPFR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BNTPFR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BNTPFR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BNTPFR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BNTPFR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BNTPFR Lynch syndrome 2B90.Y Orphanet 144 TPD-BNTPFR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BNTPFR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BNTQBS Papillary renal cell carcinoma 2C90.Y Orphanet 319298 TPD-BNTQBS Hereditary papillary renal cell carcinoma 2C90.Y Orphanet 47044 TPD-BNTQBS Rare autosomal recessive non-syndromic sensorineural deafness type DFNB AB50 Orphanet 90636 TPD-BNU1LM Kennedy disease 8B61.4 Orphanet 481 TPD-BNU1LM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BNU1LM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BNU1LM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BNVST7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BNVST7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BNW55L Kennedy disease 8B61.4 Orphanet 481 TPD-BNW55L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BNW55L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BNW55L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BNWB8J Noonan syndrome LD2F.15 Orphanet 648 TPD-BNWB8J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BNWB8J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BNWB8J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BNWB8J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BNWB8J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BNWB8J Lynch syndrome 2B90.Y Orphanet 144 TPD-BNWB8J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BNWB8J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BNX6T3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BNX6T3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BNX6T3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BNX6T3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BO650H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BO650H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BO650H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BO650H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BO7CBL Kennedy disease 8B61.4 Orphanet 481 TPD-BO7CBL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BO7CBL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BO7CBL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BO7TTD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BO8A2K CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BO8DWH Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BO8DWH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BO96DD Noonan syndrome LD2F.15 Orphanet 648 TPD-BO96DD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BO96DD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BO96DD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BO96DD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BO96DD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BO96DD Lynch syndrome 2B90.Y Orphanet 144 TPD-BO96DD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BO96DD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BOBUWT Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-BOBUWT Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-BOBUWT Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-BOJCRV Noonan syndrome LD2F.15 Orphanet 648 TPD-BOJCRV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BOJCRV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BOJCRV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BOJCRV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BOJCRV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BOJCRV Lynch syndrome 2B90.Y Orphanet 144 TPD-BOJCRV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BOJCRV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BOMRZA Noonan syndrome LD2F.15 Orphanet 648 TPD-BOMRZA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BOMRZA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BOMRZA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BOMRZA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BOMRZA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BOMRZA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BOMRZA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BOMRZA Craniopharyngioma 2F9A Orphanet 54595 TPD-BOMRZA Cushing disease 5A70.0 Orphanet 96253 TPD-BOVZG3 Kennedy disease 8B61.4 Orphanet 481 TPD-BOVZG3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BOVZG3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BOVZG3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BP5JK0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BP6PZM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BP7FVB Noonan syndrome LD2F.15 Orphanet 648 TPD-BP7FVB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BP7FVB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BP7FVB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BP7FVB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BP7FVB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BP7FVB Lynch syndrome 2B90.Y Orphanet 144 TPD-BP7FVB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BP7FVB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BP9YY6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BP9YY6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BPAV2P Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-BPAV2P Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-BPAV2P Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-BPAV2P Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-BPAV2P Primary myelofibrosis 2A20.2 Orphanet 824 TPD-BPAV2P Polycythemia vera 2A20.4 Orphanet 729 TPD-BPAV2P Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-BPCEXQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BPCEXQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BPCEXQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BPCEXQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BPFOV5 Familial melanoma QC61.Y Orphanet 618 TPD-BPFOV5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BPIFWR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BPRG2K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BPRG2K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BPWWKB Noonan syndrome LD2F.15 Orphanet 648 TPD-BPWWKB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BPWWKB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BPWWKB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BPWWKB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BPWWKB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BPWWKB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BPWWKB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BPWWKB Craniopharyngioma 2F9A Orphanet 54595 TPD-BPWWKB Cushing disease 5A70.0 Orphanet 96253 TPD-BPXQHS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-BPXQHS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-BPXQHS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-BPXQHS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-BPXQHS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-BPXQHS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-BPXQHS Semantic dementia 6D83 Orphanet 100069 TPD-BPXQHS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-BPZ4L5 Noonan syndrome LD2F.15 Orphanet 648 TPD-BPZ4L5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BPZ4L5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BPZ4L5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BPZ4L5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BPZ4L5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BPZ4L5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BPZ4L5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BPZ4L5 Craniopharyngioma 2F9A Orphanet 54595 TPD-BPZ4L5 Cushing disease 5A70.0 Orphanet 96253 TPD-BQ150D Noonan syndrome LD2F.15 Orphanet 648 TPD-BQ150D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BQ150D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BQ150D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BQ150D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BQ150D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BQ150D Lynch syndrome 2B90.Y Orphanet 144 TPD-BQ150D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BQ150D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BQ2890 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BQ2890 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BQ55ER Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BQ6BSK Kennedy disease 8B61.4 Orphanet 481 TPD-BQ6BSK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BQ6BSK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BQ6BSK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BQ7ZOX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BQ98CE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BQ98CE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BQ98CE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BQA8T4 Idiopathic pulmonary fibrosis CB03.4 Orphanet 2032 TPD-BQBGZM Noonan syndrome LD2F.15 Orphanet 648 TPD-BQBGZM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-BQBGZM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BQBGZM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BQBGZM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BQBGZM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-BQBGZM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-BQBGZM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-BQBGZM Craniopharyngioma 2F9A Orphanet 54595 TPD-BQBGZM Cushing disease 5A70.0 Orphanet 96253 TPD-BQE189 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-BQEHUK Kennedy disease 8B61.4 Orphanet 481 TPD-BQEHUK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BQEHUK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BQEHUK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BQFGDP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BQGRS6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BQIPD0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BQIPD0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BQIPD0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BQK2UO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BQK2UO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BQTKFS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BQTL6I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BQXT8U Kennedy disease 8B61.4 Orphanet 481 TPD-BQXT8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BQXT8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BQXT8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BQZF3O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BQZF3O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BQZF3O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BR1TTC Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-BR1TTC Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-BR21F0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BR7PWR Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BR7PWR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BR7ZZW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BR9FK5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BR9FK5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BRHZF7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BRHZF7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BRIL6M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BRIL6M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BRIL6M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BRLPXI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-BRLPXI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-BRLPXI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-BRLPXI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-BRLPXI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-BRLPXI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-BRLPXI Semantic dementia 6D83 Orphanet 100069 TPD-BRLPXI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-BRSOK8 Noonan syndrome LD2F.15 Orphanet 648 TPD-BRSOK8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BRSOK8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BRSOK8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BRSOK8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BRSOK8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BRSOK8 Lynch syndrome 2B90.Y Orphanet 144 TPD-BRSOK8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BRSOK8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BRSP09 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BRWRH4 Noonan syndrome LD2F.15 Orphanet 648 TPD-BRWRH4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BRWRH4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BRWRH4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BRWRH4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BRWRH4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BRWRH4 Lynch syndrome 2B90.Y Orphanet 144 TPD-BRWRH4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BRWRH4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BS029P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BS029P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BS029P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BS1IGK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BS1IGK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BS1IGK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BSCJ7R CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BSDGZZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BSDGZZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BSDGZZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BSDGZZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BSEH5Y Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BSEJD0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BSEJD0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BSEJD0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BSG1S5 Kennedy disease 8B61.4 Orphanet 481 TPD-BSG1S5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BSG1S5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BSG1S5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BSLOKW Familial melanoma QC61.Y Orphanet 618 TPD-BSLOKW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BSMWQR Kennedy disease 8B61.4 Orphanet 481 TPD-BSMWQR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BSMWQR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BSMWQR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BSOC53 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-BSOC53 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-BSQXWK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BSRWVA Kennedy disease 8B61.4 Orphanet 481 TPD-BSRWVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BSRWVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BSRWVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BSSSQL Noonan syndrome LD2F.15 Orphanet 648 TPD-BSSSQL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BSSSQL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BSSSQL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BSSSQL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BSSSQL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BSSSQL Lynch syndrome 2B90.Y Orphanet 144 TPD-BSSSQL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BSSSQL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BSV3IA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BSV3IA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BSV3IA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BSVINU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BSVINU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BSVINU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BSVINU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BT4UMQ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-BT5IH0 Familial melanoma QC61.Y Orphanet 618 TPD-BT5IH0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BT6XUA Familial melanoma QC61.Y Orphanet 618 TPD-BT6XUA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BT893B Noonan syndrome LD2F.15 Orphanet 648 TPD-BT893B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BT893B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BT893B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BT893B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BT893B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BT893B Lynch syndrome 2B90.Y Orphanet 144 TPD-BT893B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BT893B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BT8ZAB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BT9IZ8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BTE0ZU Kennedy disease 8B61.4 Orphanet 481 TPD-BTE0ZU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BTE0ZU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BTE0ZU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BTENMB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BTH6I1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BTH6I1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BTH6I1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BTJAXR Noonan syndrome LD2F.15 Orphanet 648 TPD-BTJAXR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BTJAXR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BTJAXR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BTJAXR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BTJAXR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BTJAXR Lynch syndrome 2B90.Y Orphanet 144 TPD-BTJAXR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BTJAXR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BTJSLN Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BTJSLN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BTKJ2F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BTKJ2F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BTL90G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BTL90G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BTL90G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BTL90G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BTM0U8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BTMQTQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BTMQTQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BTNDBO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BTNDBO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BTNDBO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BTS4OO Kennedy disease 8B61.4 Orphanet 481 TPD-BTS4OO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BTS4OO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BTS4OO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BTUG4C Huntington disease 8A01.10 Orphanet 399 TPD-BTW99U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BTW99U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BTW99U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BTXR8E Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-BTXR8E Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-BTZE31 Noonan syndrome LD2F.15 Orphanet 648 TPD-BTZE31 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-BU0LDB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BU15EI Noonan syndrome LD2F.15 Orphanet 648 TPD-BU15EI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-BU15EI Metachondromatosis LD24.2Y Orphanet 2499 TPD-BU15EI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BU1JT5 Kennedy disease 8B61.4 Orphanet 481 TPD-BU1JT5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BU1JT5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BU1JT5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BU1YYO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BU1YYO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BU1YYO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BU1YYO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BU5CZ2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BUC3KM Kennedy disease 8B61.4 Orphanet 481 TPD-BUC3KM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUC3KM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUC3KM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUD538 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BUD538 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BUD538 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BUD538 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BUG8WV Weaver syndrome LD2C Orphanet 3447 TPD-BUJCH4 Kennedy disease 8B61.4 Orphanet 481 TPD-BUJCH4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUJCH4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUJCH4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUKQB1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BUMWJ2 Familial melanoma QC61.Y Orphanet 618 TPD-BUMWJ2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BUPJH5 Kennedy disease 8B61.4 Orphanet 481 TPD-BUPJH5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUPJH5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUPJH5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUT5MU Kennedy disease 8B61.4 Orphanet 481 TPD-BUT5MU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUT5MU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUT5MU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUU6W7 Kennedy disease 8B61.4 Orphanet 481 TPD-BUU6W7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUU6W7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUU6W7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUV1JQ Familial melanoma QC61.Y Orphanet 618 TPD-BUV1JQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BUWRCI Kennedy disease 8B61.4 Orphanet 481 TPD-BUWRCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BUWRCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BUWRCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BUY6M0 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-BUZYBF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BUZYBF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BUZYBF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BV0MW8 Noonan syndrome LD2F.15 Orphanet 648 TPD-BV0MW8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BV0MW8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BV0MW8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BV0MW8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BV0MW8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BV0MW8 Lynch syndrome 2B90.Y Orphanet 144 TPD-BV0MW8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BV0MW8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BV3RFM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BVHFL3 Kennedy disease 8B61.4 Orphanet 481 TPD-BVHFL3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BVHFL3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BVHFL3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BVM6XX Kennedy disease 8B61.4 Orphanet 481 TPD-BVM6XX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BVM6XX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BVM6XX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BVME2A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BVMJYM Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-BVMJYM Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-BVMJYM Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-BVMJYM Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-BVMJYM Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-BVMJYM Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-BVMJYM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BVMJYM Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-BVMJYM Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BVND9K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BVND9K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BVND9K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BVND9K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BVNGK7 Kennedy disease 8B61.4 Orphanet 481 TPD-BVNGK7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BVNGK7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BVNGK7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BVQ11D Kennedy disease 8B61.4 Orphanet 481 TPD-BVQ11D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BVQ11D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BVQ11D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BVQ43A Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-BVQ43A Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BVQQCB Noonan syndrome LD2F.15 Orphanet 648 TPD-BVQQCB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BVQQCB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BVQQCB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BVQQCB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BVQQCB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BVQQCB Lynch syndrome 2B90.Y Orphanet 144 TPD-BVQQCB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BVQQCB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BVS0RO Noonan syndrome LD2F.15 Orphanet 648 TPD-BVS0RO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BVS0RO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BVS0RO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BVS0RO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BVS0RO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BVS0RO Lynch syndrome 2B90.Y Orphanet 144 TPD-BVS0RO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BVS0RO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BVTURY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BVTURY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BVTURY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BVTURY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BVULWL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BVY436 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BVY436 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BVY436 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BW7750 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BW7750 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BW7750 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BWAMMR Kennedy disease 8B61.4 Orphanet 481 TPD-BWAMMR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BWAMMR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BWAMMR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BWBBZA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BWBIMO Familial melanoma QC61.Y Orphanet 618 TPD-BWBIMO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BWCSQR Kennedy disease 8B61.4 Orphanet 481 TPD-BWCSQR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BWCSQR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BWCSQR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BWE32T Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-BWE32T Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-BWE32T Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-BWE32T Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-BWE32T Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-BWE32T Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-BWE32T Semantic dementia 6D83 Orphanet 100069 TPD-BWE32T Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-BWEQK9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BWEQK9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BWEQK9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BWH55T Kennedy disease 8B61.4 Orphanet 481 TPD-BWH55T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BWH55T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BWH55T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BWICZS Kennedy disease 8B61.4 Orphanet 481 TPD-BWICZS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BWICZS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BWICZS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BWKVIA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-BWKVIA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-BWKVIA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-BWL0VA Noonan syndrome LD2F.15 Orphanet 648 TPD-BWL0VA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BWL0VA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BWL0VA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BWL0VA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BWL0VA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BWL0VA Lynch syndrome 2B90.Y Orphanet 144 TPD-BWL0VA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BWL0VA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BWO7EB Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-BWO7EB Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-BWO7EB Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-BWO7EB Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-BWO7EB Primary myelofibrosis 2A20.2 Orphanet 824 TPD-BWO7EB Polycythemia vera 2A20.4 Orphanet 729 TPD-BWO7EB Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-BWV7AH Noonan syndrome LD2F.15 Orphanet 648 TPD-BWV7AH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BWV7AH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BWV7AH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BWV7AH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BWV7AH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BWV7AH Lynch syndrome 2B90.Y Orphanet 144 TPD-BWV7AH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BWV7AH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BWWHD4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BWWHOQ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-BWWHOQ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-BWYD7P Kennedy disease 8B61.4 Orphanet 481 TPD-BWYD7P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BWYD7P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BWYD7P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BX1LLH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BX4TMA Kennedy disease 8B61.4 Orphanet 481 TPD-BX4TMA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BX4TMA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BX4TMA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BX6PCZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BX6PCZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BX7HDD Familial melanoma QC61.Y Orphanet 618 TPD-BX7HDD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BX7ZO4 Kennedy disease 8B61.4 Orphanet 481 TPD-BX7ZO4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BX7ZO4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BX7ZO4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BXC190 Noonan syndrome LD2F.15 Orphanet 648 TPD-BXC190 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BXC190 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BXC190 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BXC190 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BXC190 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BXC190 Lynch syndrome 2B90.Y Orphanet 144 TPD-BXC190 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BXC190 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BXJMP4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BXJMP4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-BXM8LE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-BXM8LE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-BXM8LE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-BXM8LE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-BXM8LE Duane retraction syndrome 9C82.2 Orphanet 233 TPD-BXM8LE Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-BXM8LE Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-BXNBCH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BXNBCH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BXNMB2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BXR354 Familial melanoma QC61.Y Orphanet 618 TPD-BXR354 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BXTG0G Kennedy disease 8B61.4 Orphanet 481 TPD-BXTG0G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BXTG0G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BXTG0G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BXXYVS Noonan syndrome LD2F.15 Orphanet 648 TPD-BXXYVS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BXXYVS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BXXYVS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BXXYVS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BXXYVS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BXXYVS Lynch syndrome 2B90.Y Orphanet 144 TPD-BXXYVS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BXXYVS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BXYB7G Achondroplasia LD24.00 Orphanet 15 TPD-BXYB7G Hypochondroplasia LD24.01 Orphanet 429 TPD-BXYB7G Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-BXYB7G Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-BXYB7G Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-BXYB7G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BXYB7G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BXYB7G Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-BXYB7G Muenke syndrome LD24.GY Orphanet 53271 TPD-BXYB7G Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-BXYB7G Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-BXYB7G Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-BY4DPG Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BY4DPG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BY4DPG Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-BY67MM Kennedy disease 8B61.4 Orphanet 481 TPD-BY67MM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BY67MM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BY67MM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BYAKDK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BYDN9P Kennedy disease 8B61.4 Orphanet 481 TPD-BYDN9P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BYDN9P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BYDN9P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BYEO01 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 2A51 Orphanet 168950 TPD-BYEO01 Bilateral striopallidodentate calcinosis LD20.4 Orphanet 1980 TPD-BYEO01 Infantile myofibromatosis 2F7C Orphanet 2591 TPD-BYEO01 Kosaki overgrowth syndrome LD2C Orphanet 477831 TPD-BYEO01 Chronic myeloproliferative disease, unclassifiable 2A22 Orphanet 86830 TPD-BYGKHX Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-BYGKHX Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BYHRBF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-BYII1J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-BYKAGH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BYKV5F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-BYLLD6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BYLLD6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BYLLD6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BYLMQW Noonan syndrome LD2F.15 Orphanet 648 TPD-BYLMQW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BYLMQW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BYLMQW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BYLMQW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BYLMQW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BYLMQW Lynch syndrome 2B90.Y Orphanet 144 TPD-BYLMQW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BYLMQW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BYRO1N Noonan syndrome LD2F.15 Orphanet 648 TPD-BYRO1N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-BYRO1N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-BYRO1N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-BYRO1N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-BYRO1N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-BYRO1N Lynch syndrome 2B90.Y Orphanet 144 TPD-BYRO1N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-BYRO1N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-BYS91D Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-BYS91D Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-BYWWH7 Familial melanoma QC61.Y Orphanet 618 TPD-BYWWH7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BZ4F7W Familial melanoma QC61.Y Orphanet 618 TPD-BZ4F7W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BZ806X Kennedy disease 8B61.4 Orphanet 481 TPD-BZ806X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BZ806X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BZ806X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BZ8ANR Kennedy disease 8B61.4 Orphanet 481 TPD-BZ8ANR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BZ8ANR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BZ8ANR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BZB89P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BZB89P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BZBEVX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BZBEVX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BZC8D4 Familial melanoma QC61.Y Orphanet 618 TPD-BZC8D4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-BZHXQ1 Weaver syndrome LD2C Orphanet 3447 TPD-BZP5SP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-BZPG9Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BZPG9Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-BZPHPB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-BZTMYG Kennedy disease 8B61.4 Orphanet 481 TPD-BZTMYG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-BZTMYG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-BZTMYG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-BZWPDT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-BZWPDT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-BZWPDT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-BZWXBO Burkitt lymphoma XH4KA9 Orphanet 543 TPD-BZWXBO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-BZWXBO Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-BZZ8IQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-BZZ8IQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C00IFX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C00IFX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-C00IFX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C045YX Noonan syndrome LD2F.15 Orphanet 648 TPD-C045YX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C045YX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C045YX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C045YX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C045YX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C045YX Lynch syndrome 2B90.Y Orphanet 144 TPD-C045YX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C045YX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C05V63 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C05V63 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C05V63 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C05YWS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C05YWS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C05YWS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C05YWS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C08ZN9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C095TX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C09DZY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C09QU0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C09V2Z Achondroplasia LD24.00 Orphanet 15 TPD-C09V2Z Hypochondroplasia LD24.01 Orphanet 429 TPD-C09V2Z Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-C09V2Z Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-C09V2Z Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-C09V2Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C09V2Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C09V2Z Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-C09V2Z Muenke syndrome LD24.GY Orphanet 53271 TPD-C09V2Z Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-C09V2Z Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-C09V2Z Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-C0IRIA Noonan syndrome LD2F.15 Orphanet 648 TPD-C0IRIA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C0IRIA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C0IRIA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C0IRIA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C0IRIA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C0IRIA Lynch syndrome 2B90.Y Orphanet 144 TPD-C0IRIA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C0IRIA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C0KPWD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C0KPWD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C0KPWD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C0LA91 Kennedy disease 8B61.4 Orphanet 481 TPD-C0LA91 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C0LA91 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C0LA91 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C0M6OU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C0QHYT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C0U2VG Kennedy disease 8B61.4 Orphanet 481 TPD-C0U2VG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C0U2VG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C0U2VG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C135OX Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-C135OX CINCA syndrome 4A60.1 Orphanet 1451 TPD-C135OX Familial cold urticaria 4A60.1 Orphanet 47045 TPD-C15TM2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C1633M Noonan syndrome LD2F.15 Orphanet 648 TPD-C1633M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C1633M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C1633M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C1633M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C1633M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C1633M Lynch syndrome 2B90.Y Orphanet 144 TPD-C1633M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C1633M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C16REG Kennedy disease 8B61.4 Orphanet 481 TPD-C16REG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C16REG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C16REG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C16ZT9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C16ZT9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C18OJU Kennedy disease 8B61.4 Orphanet 481 TPD-C18OJU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C18OJU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C18OJU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C18OJU Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-C18OJU Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-C18OJU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-C18OJU Distal myopathy, Welander type 8C75 Orphanet 603 TPD-C18YTB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C18YTB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C1ABF2 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-C1HJZK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C1IERN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C1IERN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C1O83Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C1TA2E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C1TA2E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C1TA2E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C1TA2E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C1V3R5 Noonan syndrome LD2F.15 Orphanet 648 TPD-C1V3R5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C1V3R5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C1V3R5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C1V3R5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C1V3R5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C1V3R5 Lynch syndrome 2B90.Y Orphanet 144 TPD-C1V3R5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C1V3R5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C1VNCF Noonan syndrome LD2F.15 Orphanet 648 TPD-C1VNCF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C1VNCF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C1VNCF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C1VNCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C1VNCF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C1VNCF Lynch syndrome 2B90.Y Orphanet 144 TPD-C1VNCF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C1VNCF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C1WJ8K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C1WJ8K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C1XL1A Familial melanoma QC61.Y Orphanet 618 TPD-C1XL1A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C1YFKL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C1Z9SO Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-C1ZDXQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C23G09 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-C2736L Kennedy disease 8B61.4 Orphanet 481 TPD-C2736L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C2736L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C2736L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C2EPFS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C2FCE8 Kennedy disease 8B61.4 Orphanet 481 TPD-C2FCE8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C2FCE8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C2FCE8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C2FWOJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C2IJ68 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C2IJ68 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C2IJ68 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C2IJ68 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C2NVTP Familial melanoma QC61.Y Orphanet 618 TPD-C2NVTP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C2P5UK Familial melanoma QC61.Y Orphanet 618 TPD-C2P5UK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C2RTHR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C2U45H Kennedy disease 8B61.4 Orphanet 481 TPD-C2U45H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C2U45H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C2U45H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C2UODY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C2UODY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C2V1Y7 Achondroplasia LD24.00 Orphanet 15 TPD-C2V1Y7 Hypochondroplasia LD24.01 Orphanet 429 TPD-C2V1Y7 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-C2V1Y7 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-C2V1Y7 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-C2V1Y7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C2V1Y7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C2V1Y7 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-C2V1Y7 Muenke syndrome LD24.GY Orphanet 53271 TPD-C2V1Y7 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-C2V1Y7 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-C2V1Y7 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-C2XPXR Noonan syndrome LD2F.15 Orphanet 648 TPD-C2XPXR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C2XPXR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C2XPXR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C2XPXR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C2XPXR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C2XPXR Lynch syndrome 2B90.Y Orphanet 144 TPD-C2XPXR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C2XPXR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C2ZRRP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C31VQV Noonan syndrome LD2F.15 Orphanet 648 TPD-C31VQV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C31VQV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C31VQV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C31VQV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C31VQV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C31VQV Lynch syndrome 2B90.Y Orphanet 144 TPD-C31VQV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C31VQV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C323MO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-C323MO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-C323MO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-C323MO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-C323MO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-C323MO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-C323MO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C323MO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-C323MO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-C34QUA Noonan syndrome LD2F.15 Orphanet 648 TPD-C34QUA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C34QUA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C34QUA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C34QUA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C34QUA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C34QUA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C34QUA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C34QUA Craniopharyngioma 2F9A Orphanet 54595 TPD-C34QUA Cushing disease 5A70.0 Orphanet 96253 TPD-C36TO8 Kennedy disease 8B61.4 Orphanet 481 TPD-C36TO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C36TO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C36TO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C39Q59 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-C39Q59 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-C39Q59 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-C39Q59 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-C39Q59 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-C39Q59 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-C39Q59 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C39Q59 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-C39Q59 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-C3EKZB Familial melanoma QC61.Y Orphanet 618 TPD-C3EKZB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C3FLDY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C3FLDY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C3G1OT Noonan syndrome LD2F.15 Orphanet 648 TPD-C3G1OT Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-C3IU0A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C3JHPH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C3OYBH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C3QKHS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C3QKHS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C3UCW8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C3UCW8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C3UCW8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C3UKFJ Noonan syndrome LD2F.15 Orphanet 648 TPD-C3UKFJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C3UKFJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C3UKFJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C3UKFJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C3UKFJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C3UKFJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C3UKFJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C3UKFJ Craniopharyngioma 2F9A Orphanet 54595 TPD-C3UKFJ Cushing disease 5A70.0 Orphanet 96253 TPD-C3VKKU Kennedy disease 8B61.4 Orphanet 481 TPD-C3VKKU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C3VKKU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C3VKKU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C3W7J8 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-C3W7J8 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-C3W7J8 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-C3W7J8 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-C3W7J8 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-C3W7J8 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-C3W7J8 Semantic dementia 6D83 Orphanet 100069 TPD-C3W7J8 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-C3X9L1 Familial melanoma QC61.Y Orphanet 618 TPD-C3X9L1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C3Y1OS Familial melanoma QC61.Y Orphanet 618 TPD-C3Y1OS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C40JYT Noonan syndrome LD2F.15 Orphanet 648 TPD-C40JYT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C40JYT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C40JYT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C40JYT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C40JYT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C40JYT Lynch syndrome 2B90.Y Orphanet 144 TPD-C40JYT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C40JYT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C43CHX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C43CHX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C43CHX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C4GEEA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-C4HS02 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C4IDN8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C4IDN8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-C4IDN8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C4IFOG Noonan syndrome LD2F.15 Orphanet 648 TPD-C4IFOG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C4IFOG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C4IFOG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C4IFOG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C4IFOG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C4IFOG Lynch syndrome 2B90.Y Orphanet 144 TPD-C4IFOG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C4IFOG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C4JQS4 Familial melanoma QC61.Y Orphanet 618 TPD-C4JQS4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C4L460 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C4L460 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C4LODP Noonan syndrome LD2F.15 Orphanet 648 TPD-C4LODP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C4LODP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C4LODP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C4LODP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C4LODP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C4LODP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C4LODP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C4LODP Craniopharyngioma 2F9A Orphanet 54595 TPD-C4LODP Cushing disease 5A70.0 Orphanet 96253 TPD-C4NCLA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-C4NCLA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-C4R3PC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C4S9CQ Kennedy disease 8B61.4 Orphanet 481 TPD-C4S9CQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C4S9CQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C4S9CQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C4TUM9 Noonan syndrome LD2F.15 Orphanet 648 TPD-C4TUM9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C4TUM9 Metachondromatosis LD24.2Y Orphanet 2499 TPD-C4TUM9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C4ULOD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C4UQE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-C4UQE4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C4UQE4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C4UQE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C4UQE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C4UQE4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C4UQE4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C4UQE4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C4UQE4 Craniopharyngioma 2F9A Orphanet 54595 TPD-C4UQE4 Cushing disease 5A70.0 Orphanet 96253 TPD-C4Y7WZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-C4YQIL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C4YQIL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C4ZQT3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C4ZQT3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C51LGL Noonan syndrome LD2F.15 Orphanet 648 TPD-C51LGL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C51LGL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C51LGL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C51LGL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C51LGL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C51LGL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C51LGL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C51LGL Craniopharyngioma 2F9A Orphanet 54595 TPD-C51LGL Cushing disease 5A70.0 Orphanet 96253 TPD-C51LGL Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-C51VFG Noonan syndrome LD2F.15 Orphanet 648 TPD-C51VFG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C51VFG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C51VFG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C51VFG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C51VFG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C51VFG Lynch syndrome 2B90.Y Orphanet 144 TPD-C51VFG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C51VFG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C52JCS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C52JCS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C52JCS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C56CDX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C58R6T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C58R6T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C58R6T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C5BE3R Kennedy disease 8B61.4 Orphanet 481 TPD-C5BE3R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C5BE3R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C5BE3R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C5D1EK Noonan syndrome LD2F.15 Orphanet 648 TPD-C5D1EK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C5D1EK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C5D1EK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C5D1EK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C5D1EK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C5D1EK Lynch syndrome 2B90.Y Orphanet 144 TPD-C5D1EK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C5D1EK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C5EEED Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C5EEED Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C5ERRF Kennedy disease 8B61.4 Orphanet 481 TPD-C5ERRF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C5ERRF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C5ERRF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C5G7YR Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-C5HQ1X Achondroplasia LD24.00 Orphanet 15 TPD-C5HQ1X Hypochondroplasia LD24.01 Orphanet 429 TPD-C5HQ1X Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-C5HQ1X Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-C5HQ1X Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-C5HQ1X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C5HQ1X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C5HQ1X Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-C5HQ1X Muenke syndrome LD24.GY Orphanet 53271 TPD-C5HQ1X Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-C5HQ1X Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-C5HQ1X Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-C5I3VE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-C5KLCE Kennedy disease 8B61.4 Orphanet 481 TPD-C5KLCE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C5KLCE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C5KLCE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C5NLRT Noonan syndrome LD2F.15 Orphanet 648 TPD-C5NLRT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C5NLRT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C5NLRT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C5NLRT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C5NLRT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C5NLRT Lynch syndrome 2B90.Y Orphanet 144 TPD-C5NLRT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C5NLRT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C5OHZZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C5OHZZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C5OWS4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C5OWS4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C5OWS4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C5OWS4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C5PJYV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C5PJYV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C5PJYV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C5QLY5 Kennedy disease 8B61.4 Orphanet 481 TPD-C5QLY5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C5QLY5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C5QLY5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C5WYLU Noonan syndrome LD2F.15 Orphanet 648 TPD-C5WYLU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C5WYLU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C5WYLU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C5WYLU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C5WYLU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C5WYLU Lynch syndrome 2B90.Y Orphanet 144 TPD-C5WYLU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C5WYLU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C5YFVD Noonan syndrome LD2F.15 Orphanet 648 TPD-C5YFVD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C5YFVD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C5YFVD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C5YFVD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C5YFVD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C5YFVD Lynch syndrome 2B90.Y Orphanet 144 TPD-C5YFVD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C5YFVD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C674BN Noonan syndrome LD2F.15 Orphanet 648 TPD-C674BN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C674BN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C674BN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C674BN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C674BN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C674BN Lynch syndrome 2B90.Y Orphanet 144 TPD-C674BN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C674BN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C69CRN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C69CRN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C6A10H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C6A10H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C6A10H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C6A10H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C6BD54 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C6BJI9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-C6BJO7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C6BJO7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C6JHDO Noonan syndrome LD2F.15 Orphanet 648 TPD-C6JHDO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C6JHDO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C6JHDO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C6JHDO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C6JHDO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C6JHDO Lynch syndrome 2B90.Y Orphanet 144 TPD-C6JHDO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C6JHDO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C6L6BV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C6LIWU Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-C6OEVB Kennedy disease 8B61.4 Orphanet 481 TPD-C6OEVB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C6OEVB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C6OEVB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C6OLSU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-C6OLSU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-C6OLSU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-C6OLSU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-C6OLSU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-C6OLSU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-C6OLSU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C6OLSU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-C6OLSU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-C6WJ0P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C6XWTD Weaver syndrome LD2C Orphanet 3447 TPD-C6YOD9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C70LHZ Noonan syndrome LD2F.15 Orphanet 648 TPD-C70LHZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C70LHZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C70LHZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C70LHZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C70LHZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C70LHZ Lynch syndrome 2B90.Y Orphanet 144 TPD-C70LHZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C70LHZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C725HM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C725HM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C725HM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C77BY1 Kennedy disease 8B61.4 Orphanet 481 TPD-C77BY1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C77BY1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C77BY1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C77WJF Noonan syndrome LD2F.15 Orphanet 648 TPD-C77WJF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C77WJF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C77WJF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C77WJF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C77WJF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C77WJF Lynch syndrome 2B90.Y Orphanet 144 TPD-C77WJF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C77WJF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C797H6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-C79M8A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C79M8A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C79M8A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C79M8A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C7A8A2 Lynch syndrome 2B90.Y Orphanet 144 TPD-C7A8A2 Congenital tufting enteropathy DA90.Y Orphanet 92050 TPD-C7BKTD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C7FXAB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C7FXAB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C7FXAB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C7HLX8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C7QV47 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C7SOGC Familial melanoma QC61.Y Orphanet 618 TPD-C7SOGC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-C7UMZA Kennedy disease 8B61.4 Orphanet 481 TPD-C7UMZA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C7UMZA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C7UMZA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C7WDFY Noonan syndrome LD2F.15 Orphanet 648 TPD-C7WDFY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-C7WDFY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-C7WDFY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C7WDFY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C7WDFY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-C7WDFY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-C7WDFY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-C7WDFY Craniopharyngioma 2F9A Orphanet 54595 TPD-C7WDFY Cushing disease 5A70.0 Orphanet 96253 TPD-C7XQ6O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C7XQ6O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C7XQ6O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C7XQ6O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C82KK0 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-C838T7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C83TUF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C83TUF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C83TUF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C8APKA Noonan syndrome LD2F.15 Orphanet 648 TPD-C8APKA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C8APKA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C8APKA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C8APKA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C8APKA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C8APKA Lynch syndrome 2B90.Y Orphanet 144 TPD-C8APKA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C8APKA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C8BIUV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-C8BIUV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-C8BIUV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-C8BJHO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C8BJHO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-C8DVIF Kennedy disease 8B61.4 Orphanet 481 TPD-C8DVIF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C8DVIF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C8DVIF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C8KJ74 Noonan syndrome LD2F.15 Orphanet 648 TPD-C8KJ74 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C8KJ74 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C8KJ74 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C8KJ74 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C8KJ74 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C8KJ74 Lynch syndrome 2B90.Y Orphanet 144 TPD-C8KJ74 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C8KJ74 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C8PMHH Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-C8SEZK Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-C8SEZK Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-C8UFEY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C8UFEY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C8UFEY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C8UFEY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C8VE2A Kennedy disease 8B61.4 Orphanet 481 TPD-C8VE2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C8VE2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C8VE2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C8WMOE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-C8X74K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-C8X74K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-C8YX1D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C8YX1D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C8YX1D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C8YX1D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C92GQP Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-C96WNM Noonan syndrome LD2F.15 Orphanet 648 TPD-C96WNM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C96WNM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C96WNM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C96WNM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C96WNM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C96WNM Lynch syndrome 2B90.Y Orphanet 144 TPD-C96WNM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C96WNM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-C9A28Z Kennedy disease 8B61.4 Orphanet 481 TPD-C9A28Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C9A28Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C9A28Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C9BI3Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-C9GX26 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C9GX26 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-C9GX26 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C9HWME Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-C9HWME Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-C9HWME Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-C9O9JF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C9O9JF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C9O9JF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C9O9JF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C9P7CQ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-C9P7CQ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-C9P7CQ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-C9P7CQ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-C9P7CQ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-C9P7CQ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-C9P7CQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C9P7CQ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-C9P7CQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-C9QUGQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-C9TM5Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-C9TM5Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-C9TM5Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-C9TM5Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-C9VVV9 Kennedy disease 8B61.4 Orphanet 481 TPD-C9VVV9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C9VVV9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C9VVV9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C9WH5N Kennedy disease 8B61.4 Orphanet 481 TPD-C9WH5N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-C9WH5N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-C9WH5N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-C9ZHQL Noonan syndrome LD2F.15 Orphanet 648 TPD-C9ZHQL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-C9ZHQL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-C9ZHQL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-C9ZHQL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-C9ZHQL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-C9ZHQL Lynch syndrome 2B90.Y Orphanet 144 TPD-C9ZHQL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-C9ZHQL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CA4FY1 Kennedy disease 8B61.4 Orphanet 481 TPD-CA4FY1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CA4FY1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CA4FY1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CA5HUD Kennedy disease 8B61.4 Orphanet 481 TPD-CA5HUD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CA5HUD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CA5HUD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CA5S74 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CA5S74 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CA5S74 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CA5S74 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CA7APV Kennedy disease 8B61.4 Orphanet 481 TPD-CA7APV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CA7APV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CA7APV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CA8EDR Noonan syndrome LD2F.15 Orphanet 648 TPD-CA8EDR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CA8EDR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CA8EDR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CA8EDR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CA8EDR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CA8EDR Lynch syndrome 2B90.Y Orphanet 144 TPD-CA8EDR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CA8EDR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CA9BKL Noonan syndrome LD2F.15 Orphanet 648 TPD-CA9BKL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CA9BKL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CA9BKL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CA9BKL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CA9BKL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CA9BKL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CA9BKL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CA9BKL Craniopharyngioma 2F9A Orphanet 54595 TPD-CA9BKL Cushing disease 5A70.0 Orphanet 96253 TPD-CA9NAR Noonan syndrome LD2F.15 Orphanet 648 TPD-CA9NAR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CA9NAR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CA9NAR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CA9NAR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CA9NAR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CA9NAR Lynch syndrome 2B90.Y Orphanet 144 TPD-CA9NAR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CA9NAR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CA9P80 Kennedy disease 8B61.4 Orphanet 481 TPD-CA9P80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CA9P80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CA9P80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CA9VOP Familial melanoma QC61.Y Orphanet 618 TPD-CA9VOP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CACG1S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CAE44E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CAE44E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CAE44E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CAE44E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CAIB1M Kennedy disease 8B61.4 Orphanet 481 TPD-CAIB1M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CAIB1M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CAIB1M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CAJ0PG Kennedy disease 8B61.4 Orphanet 481 TPD-CAJ0PG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CAJ0PG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CAJ0PG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CAK7Y1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CAK7Y1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CAKRFO Familial melanoma QC61.Y Orphanet 618 TPD-CAKRFO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CAOISM Noonan syndrome LD2F.15 Orphanet 648 TPD-CAOISM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CAOISM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CAOISM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CAOISM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CAOISM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CAOISM Lynch syndrome 2B90.Y Orphanet 144 TPD-CAOISM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CAOISM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CARXFF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CARXFF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CARXFF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CARXFF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CARXFF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CARXFF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CARXFF Semantic dementia 6D83 Orphanet 100069 TPD-CARXFF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CARXOZ Kennedy disease 8B61.4 Orphanet 481 TPD-CARXOZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CARXOZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CARXOZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CATR4F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CAWQ2B Noonan syndrome LD2F.15 Orphanet 648 TPD-CAWQ2B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CAWQ2B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CAWQ2B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CAWQ2B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CAWQ2B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CAWQ2B Lynch syndrome 2B90.Y Orphanet 144 TPD-CAWQ2B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CAWQ2B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CAXOV8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CAXOV8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CAXOV8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CB2UT6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CB2UT6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CB461N Noonan syndrome LD2F.15 Orphanet 648 TPD-CB461N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CB461N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CB461N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CB461N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CB461N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CB461N Lynch syndrome 2B90.Y Orphanet 144 TPD-CB461N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CB461N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CB6JCT Noonan syndrome LD2F.15 Orphanet 648 TPD-CB6JCT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CB6JCT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CB6JCT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CB6JCT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CB6JCT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CB6JCT Lynch syndrome 2B90.Y Orphanet 144 TPD-CB6JCT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CB6JCT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CB6X3S Noonan syndrome LD2F.15 Orphanet 648 TPD-CB6X3S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CB6X3S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CB6X3S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CB6X3S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CB6X3S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CB6X3S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CB6X3S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CB6X3S Craniopharyngioma 2F9A Orphanet 54595 TPD-CB6X3S Cushing disease 5A70.0 Orphanet 96253 TPD-CB7MH2 Noonan syndrome LD2F.15 Orphanet 648 TPD-CB7MH2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CB7MH2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CB7MH2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CB7MH2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CB7MH2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CB7MH2 Lynch syndrome 2B90.Y Orphanet 144 TPD-CB7MH2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CB7MH2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CB9ENX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CB9ENX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CB9ENX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CB9ENX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CB9R0M Noonan syndrome LD2F.15 Orphanet 648 TPD-CB9R0M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CB9R0M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CB9R0M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CB9R0M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CB9R0M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CB9R0M Lynch syndrome 2B90.Y Orphanet 144 TPD-CB9R0M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CB9R0M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CBGL5S Burkitt lymphoma XH4KA9 Orphanet 543 TPD-CBGL5S Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-CBGL5S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CBIHRB Kennedy disease 8B61.4 Orphanet 481 TPD-CBIHRB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CBIHRB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CBIHRB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CBIJ5I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CBKQMB Kennedy disease 8B61.4 Orphanet 481 TPD-CBKQMB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CBKQMB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CBKQMB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CBS066 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CBS066 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CBS066 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CBS066 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CBVFOY Kennedy disease 8B61.4 Orphanet 481 TPD-CBVFOY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CBVFOY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CBVFOY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CBY224 Kennedy disease 8B61.4 Orphanet 481 TPD-CBY224 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CBY224 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CBY224 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CC5W5G Kennedy disease 8B61.4 Orphanet 481 TPD-CC5W5G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CC5W5G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CC5W5G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CC9IB2 Kennedy disease 8B61.4 Orphanet 481 TPD-CC9IB2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CC9IB2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CC9IB2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CCA5KZ Kennedy disease 8B61.4 Orphanet 481 TPD-CCA5KZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CCA5KZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CCA5KZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CCBRZ5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CCBRZ5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CCBRZ5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CCBRZ5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CCBX6W Noonan syndrome LD2F.15 Orphanet 648 TPD-CCBX6W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CCBX6W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CCBX6W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CCBX6W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CCBX6W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CCBX6W Lynch syndrome 2B90.Y Orphanet 144 TPD-CCBX6W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CCBX6W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CCJJ3M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CCJJ3M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CCKAPO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CCKAPO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CCSI3R Kennedy disease 8B61.4 Orphanet 481 TPD-CCSI3R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CCSI3R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CCSI3R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CCT9L7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CCT9L7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CCT9L7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CCUH9T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CCUH9T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CCUH9T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CCW2J9 Noonan syndrome LD2F.15 Orphanet 648 TPD-CCW2J9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CCW2J9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CCW2J9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CCW2J9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CCW2J9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CCW2J9 Lynch syndrome 2B90.Y Orphanet 144 TPD-CCW2J9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CCW2J9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CCW6X9 Familial melanoma QC61.Y Orphanet 618 TPD-CCW6X9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CCYBU1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CCYPYI Kennedy disease 8B61.4 Orphanet 481 TPD-CCYPYI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CCYPYI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CCYPYI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CCZCK1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CCZCK1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CCZCK1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CCZCK1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CD5L4Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CD5L4Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CD7FM1 Noonan syndrome LD2F.15 Orphanet 648 TPD-CD7FM1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CD7FM1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CD7FM1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CD7FM1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CD7FM1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CD7FM1 Lynch syndrome 2B90.Y Orphanet 144 TPD-CD7FM1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CD7FM1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CD841H Kennedy disease 8B61.4 Orphanet 481 TPD-CD841H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CD841H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CD841H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CDAXTO Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-CDC0QB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CDC0QB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CDC4PW Noonan syndrome LD2F.15 Orphanet 648 TPD-CDC4PW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CDC4PW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CDC4PW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CDC4PW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CDC4PW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CDC4PW Lynch syndrome 2B90.Y Orphanet 144 TPD-CDC4PW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CDC4PW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CDCJFV Noonan syndrome LD2F.15 Orphanet 648 TPD-CDCJFV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CDCJFV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CDCJFV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CDCJFV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CDCJFV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CDCJFV Lynch syndrome 2B90.Y Orphanet 144 TPD-CDCJFV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CDCJFV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CDFL0D Noonan syndrome LD2F.15 Orphanet 648 TPD-CDFL0D Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-CDG3Y8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CDIP7A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CDIP7A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CDKD64 Familial melanoma QC61.Y Orphanet 618 TPD-CDKD64 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CDOPLA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CDRBY1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-CDRBY1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-CDRBY1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CDSGB7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CDSGB7 Wilson-Turner syndrome LD29 Orphanet 3459 TPD-CE0QWQ MUC1-related autosomal dominant tubulointerstitial kidney disease GB82 Orphanet 88949 TPD-CE2RBJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CE2RBJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CE2RBJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CE96PX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CE96PX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CEC3TM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CEC3TM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CEC3TM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CEHZVA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CEJEWT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CEJEWT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CEJEWT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CEMUGQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CEMUGQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CEMUGQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CEOK9N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CEOP6W Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CEQAWJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-CEQAWJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-CEQBYX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CEQBYX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CEQBYX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CEQBYX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CESACV Noonan syndrome LD2F.15 Orphanet 648 TPD-CESACV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CESACV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CESACV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CESACV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CESACV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CESACV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CESACV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CESACV Craniopharyngioma 2F9A Orphanet 54595 TPD-CESACV Cushing disease 5A70.0 Orphanet 96253 TPD-CEUNNZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CEVA9Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CF2D88 Noonan syndrome LD2F.15 Orphanet 648 TPD-CF2D88 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CF2D88 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CF2D88 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CF2D88 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CF2D88 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CF2D88 Lynch syndrome 2B90.Y Orphanet 144 TPD-CF2D88 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CF2D88 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CF2HP4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CF3PUO Kennedy disease 8B61.4 Orphanet 481 TPD-CF3PUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CF3PUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CF3PUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CF5A5O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CF5A5O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CF5A5O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CF5XM0 Noonan syndrome LD2F.15 Orphanet 648 TPD-CF5XM0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CF5XM0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CF5XM0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CF5XM0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CF5XM0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CF5XM0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CF5XM0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CF5XM0 Craniopharyngioma 2F9A Orphanet 54595 TPD-CF5XM0 Cushing disease 5A70.0 Orphanet 96253 TPD-CF6NLE Noonan syndrome LD2F.15 Orphanet 648 TPD-CF6NLE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CF6NLE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CF6NLE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CF6NLE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CF6NLE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CF6NLE Lynch syndrome 2B90.Y Orphanet 144 TPD-CF6NLE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CF6NLE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CF73AS Kennedy disease 8B61.4 Orphanet 481 TPD-CF73AS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CF73AS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CF73AS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CFAG32 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CFAG32 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CFAG32 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CFAG32 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CFC2WY Noonan syndrome LD2F.15 Orphanet 648 TPD-CFC2WY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CFC2WY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CFC2WY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CFC2WY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CFC2WY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CFC2WY Lynch syndrome 2B90.Y Orphanet 144 TPD-CFC2WY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CFC2WY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CFC7OY Noonan syndrome LD2F.15 Orphanet 648 TPD-CFC7OY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CFC7OY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CFC7OY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CFC7OY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CFC7OY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CFC7OY Lynch syndrome 2B90.Y Orphanet 144 TPD-CFC7OY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CFC7OY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CFE2NL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CFJBGX Kennedy disease 8B61.4 Orphanet 481 TPD-CFJBGX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CFJBGX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CFJBGX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CFRC1G Familial melanoma QC61.Y Orphanet 618 TPD-CFRC1G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CFRKWT Noonan syndrome LD2F.15 Orphanet 648 TPD-CFRKWT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CFRKWT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CFRKWT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CFRKWT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CFRKWT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CFRKWT Lynch syndrome 2B90.Y Orphanet 144 TPD-CFRKWT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CFRKWT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CFTKQF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CFTKQF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CFTSUC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CG0QKE Noonan syndrome LD2F.15 Orphanet 648 TPD-CG0QKE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CG0QKE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CG0QKE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CG0QKE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CG0QKE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CG0QKE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CG0QKE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CG0QKE Craniopharyngioma 2F9A Orphanet 54595 TPD-CG0QKE Cushing disease 5A70.0 Orphanet 96253 TPD-CG2LIQ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-CG5C8F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CG5C8F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CG6NNI Noonan syndrome LD2F.15 Orphanet 648 TPD-CG6NNI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CG6NNI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CG6NNI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CG6NNI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CG6NNI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CG6NNI Lynch syndrome 2B90.Y Orphanet 144 TPD-CG6NNI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CG6NNI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CG6OI3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CG6OI3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CG6OI3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CG6Y2F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CG6Y2F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CG6Y2F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CG7KXQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CG7LEG Noonan syndrome LD2F.15 Orphanet 648 TPD-CG7LEG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CG7LEG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CG7LEG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CG7LEG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CG7LEG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CG7LEG Lynch syndrome 2B90.Y Orphanet 144 TPD-CG7LEG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CG7LEG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CGCDCS Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CGDGS9 Kennedy disease 8B61.4 Orphanet 481 TPD-CGDGS9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CGDGS9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CGDGS9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CGL1G7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CGL1G7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CGL1G7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CGL1G7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CGO2NU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CGO2NU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CGPO5Q Kennedy disease 8B61.4 Orphanet 481 TPD-CGPO5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CGPO5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CGPO5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CGQSK1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CGQSK1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CGQSK1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CGQSK1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CGQXDD Noonan syndrome LD2F.15 Orphanet 648 TPD-CGQXDD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CGQXDD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CGQXDD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CGQXDD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CGQXDD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CGQXDD Lynch syndrome 2B90.Y Orphanet 144 TPD-CGQXDD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CGQXDD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CGSCQL Kennedy disease 8B61.4 Orphanet 481 TPD-CGSCQL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CGSCQL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CGSCQL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CGTCM2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CGTCM2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CGTCM2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CGTFZL Noonan syndrome LD2F.15 Orphanet 648 TPD-CGTFZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CGTFZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CGTFZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CGTFZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CGTFZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CGTFZL Lynch syndrome 2B90.Y Orphanet 144 TPD-CGTFZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CGTFZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CGVEO8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CH02JY Kennedy disease 8B61.4 Orphanet 481 TPD-CH02JY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CH02JY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CH02JY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CH0WZI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CH0WZI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CH0WZI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CH0WZI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CH0WZI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CH0WZI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CH0WZI Semantic dementia 6D83 Orphanet 100069 TPD-CH0WZI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CH1T67 Kennedy disease 8B61.4 Orphanet 481 TPD-CH1T67 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CH1T67 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CH1T67 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CH3JM6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CH3JM6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CH3JM6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CH3YUF Familial melanoma QC61.Y Orphanet 618 TPD-CH3YUF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CH6TU7 Kennedy disease 8B61.4 Orphanet 481 TPD-CH6TU7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CH6TU7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CH6TU7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CH7GCI Kennedy disease 8B61.4 Orphanet 481 TPD-CH7GCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CH7GCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CH7GCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CH9BQX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CH9BQX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CH9Z4G Familial melanoma QC61.Y Orphanet 618 TPD-CH9Z4G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CHAXHT Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-CHDJSH Noonan syndrome LD2F.15 Orphanet 648 TPD-CHDJSH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CHDJSH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CHDJSH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CHDJSH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CHDJSH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CHDJSH Lynch syndrome 2B90.Y Orphanet 144 TPD-CHDJSH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CHDJSH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CHDRDD Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CHECP9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CHERSW Noonan syndrome LD2F.15 Orphanet 648 TPD-CHERSW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CHERSW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CHERSW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CHERSW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CHERSW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CHERSW Lynch syndrome 2B90.Y Orphanet 144 TPD-CHERSW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CHERSW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CHMM29 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CHMM29 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CHMM29 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CHOYPF Noonan syndrome LD2F.15 Orphanet 648 TPD-CHOYPF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CHOYPF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CHOYPF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CHOYPF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CHOYPF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CHOYPF Lynch syndrome 2B90.Y Orphanet 144 TPD-CHOYPF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CHOYPF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CHP8ZZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CHP8ZZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CHP8ZZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CHSW5C Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-CHSW5C Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-CHTC1P Kennedy disease 8B61.4 Orphanet 481 TPD-CHTC1P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CHTC1P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CHTC1P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CHXBY6 Noonan syndrome LD2F.15 Orphanet 648 TPD-CHXBY6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CHXBY6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CHXBY6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CHXBY6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CHXBY6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CHXBY6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CHXBY6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CHXBY6 Craniopharyngioma 2F9A Orphanet 54595 TPD-CHXBY6 Cushing disease 5A70.0 Orphanet 96253 TPD-CHXGT7 Familial melanoma QC61.Y Orphanet 618 TPD-CHXGT7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CHY21D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CI1JIU Kennedy disease 8B61.4 Orphanet 481 TPD-CI1JIU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CI1JIU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CI1JIU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CI77K4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CI77K4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CIFICV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CIFICV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CIIFRC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CIIFRC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CILLGM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CIT225 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CIT225 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CIU56W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CIU56W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CIU56W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CIV1MB Noonan syndrome LD2F.15 Orphanet 648 TPD-CIV1MB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CIV1MB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CIV1MB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CIV1MB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CIV1MB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CIV1MB Lynch syndrome 2B90.Y Orphanet 144 TPD-CIV1MB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CIV1MB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CIYW6B Kennedy disease 8B61.4 Orphanet 481 TPD-CIYW6B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CIYW6B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CIYW6B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CJ0941 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CJ4AJA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CJ4AJA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CJ4AJA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CJ4AJA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CJ4VCU Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CJ5N5B Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CJ5N5B Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CJ5N5B Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CJ5N5B Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CJ5N5B Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CJ5N5B Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CJ5N5B Semantic dementia 6D83 Orphanet 100069 TPD-CJ5N5B Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CJ74JQ Noonan syndrome LD2F.15 Orphanet 648 TPD-CJ74JQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CJ74JQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CJ74JQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CJ74JQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CJ74JQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CJ74JQ Lynch syndrome 2B90.Y Orphanet 144 TPD-CJ74JQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CJ74JQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CJE6D1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CJF5LR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CJGDLS Noonan syndrome LD2F.15 Orphanet 648 TPD-CJGDLS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CJGDLS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CJGDLS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CJGDLS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CJGDLS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CJGDLS Lynch syndrome 2B90.Y Orphanet 144 TPD-CJGDLS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CJGDLS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CJIY3H Noonan syndrome LD2F.15 Orphanet 648 TPD-CJIY3H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CJIY3H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CJIY3H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CJIY3H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CJIY3H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CJIY3H Lynch syndrome 2B90.Y Orphanet 144 TPD-CJIY3H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CJIY3H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CJJIKD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CJLE6S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CJLE6S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CJLE6S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CJLE6S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CJO7YG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CJO7YG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CJSFK7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CJSFK7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CJSFK7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CJSFK7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CJSFK7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CJSFK7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CJSFK7 Semantic dementia 6D83 Orphanet 100069 TPD-CJSFK7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CJU0JE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CJU0JE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CJU0JE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CJX699 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-CK17ZZ Familial melanoma QC61.Y Orphanet 618 TPD-CK17ZZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CK1WQM Noonan syndrome LD2F.15 Orphanet 648 TPD-CK1WQM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CK1WQM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CK1WQM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CK1WQM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CK1WQM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CK1WQM Lynch syndrome 2B90.Y Orphanet 144 TPD-CK1WQM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CK1WQM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CK6NV7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CK6NV7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CK6NV7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CK6NV7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CKCITE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CKCITE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CKCITE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CKCITE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CKDRJF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CKDRJF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CKGVQU Noonan syndrome LD2F.15 Orphanet 648 TPD-CKGVQU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CKGVQU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CKGVQU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CKGVQU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CKGVQU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CKGVQU Lynch syndrome 2B90.Y Orphanet 144 TPD-CKGVQU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CKGVQU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CKKUIN Familial melanoma QC61.Y Orphanet 618 TPD-CKKUIN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CKTMWA Noonan syndrome LD2F.15 Orphanet 648 TPD-CKTMWA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CKTMWA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CKTMWA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CKTMWA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CKTMWA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CKTMWA Lynch syndrome 2B90.Y Orphanet 144 TPD-CKTMWA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CKTMWA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CKVK73 Familial melanoma QC61.Y Orphanet 618 TPD-CKVK73 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CKZX2N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CKZX2N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CL8SEE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CLASZU Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-CLBYGU Kennedy disease 8B61.4 Orphanet 481 TPD-CLBYGU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CLBYGU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CLBYGU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CLCQSZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CLCQSZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CLCTC6 Familial melanoma QC61.Y Orphanet 618 TPD-CLCTC6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CLF0F1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CLF0F1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CLIAHT Noonan syndrome LD2F.15 Orphanet 648 TPD-CLIAHT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CLIAHT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CLIAHT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CLIAHT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CLIAHT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CLIAHT Lynch syndrome 2B90.Y Orphanet 144 TPD-CLIAHT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CLIAHT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CLLBWJ Kennedy disease 8B61.4 Orphanet 481 TPD-CLLBWJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CLLBWJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CLLBWJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CLOB7A Kennedy disease 8B61.4 Orphanet 481 TPD-CLOB7A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CLOB7A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CLOB7A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CLQ0BI Noonan syndrome LD2F.15 Orphanet 648 TPD-CLQ0BI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CLQ0BI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CLQ0BI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CLQ0BI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CLQ0BI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CLQ0BI Lynch syndrome 2B90.Y Orphanet 144 TPD-CLQ0BI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CLQ0BI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CLS1A0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CLS1A0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CLS1A0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CLSSOW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CLSSOW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CLSSOW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CLTDE2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CLTDE2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CM0C0T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CM0C0T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CM433C Kennedy disease 8B61.4 Orphanet 481 TPD-CM433C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CM433C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CM433C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CM69GY Kennedy disease 8B61.4 Orphanet 481 TPD-CM69GY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CM69GY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CM69GY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CM828Q Kennedy disease 8B61.4 Orphanet 481 TPD-CM828Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CM828Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CM828Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMAEY7 Kennedy disease 8B61.4 Orphanet 481 TPD-CMAEY7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CMAEY7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CMAEY7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMBO9F Noonan syndrome LD2F.15 Orphanet 648 TPD-CMBO9F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CMBO9F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CMBO9F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CMBO9F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CMBO9F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CMBO9F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CMBO9F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CMBO9F Craniopharyngioma 2F9A Orphanet 54595 TPD-CMBO9F Cushing disease 5A70.0 Orphanet 96253 TPD-CMCBJH Familial melanoma QC61.Y Orphanet 618 TPD-CMCBJH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CMDSK8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CMGNPU Kennedy disease 8B61.4 Orphanet 481 TPD-CMGNPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CMGNPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CMGNPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMJPNB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-CMJPNB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-CMJPNB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-CMJPNB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-CMJPNB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-CMJPNB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-CMJPNB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CMJPNB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-CMJPNB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-CML1VP Kennedy disease 8B61.4 Orphanet 481 TPD-CML1VP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CML1VP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CML1VP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CML6OX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CMLPH0 Noonan syndrome LD2F.15 Orphanet 648 TPD-CMLPH0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CMLPH0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CMLPH0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CMLPH0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CMLPH0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CMLPH0 Lynch syndrome 2B90.Y Orphanet 144 TPD-CMLPH0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CMLPH0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CMMBHW Kennedy disease 8B61.4 Orphanet 481 TPD-CMMBHW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CMMBHW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CMMBHW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMMGXV Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-CMN1TH Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-CMN1TH Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-CMN1TH Primary myelofibrosis 2A20.2 Orphanet 824 TPD-CMN1TH Polycythemia vera 2A20.4 Orphanet 729 TPD-CMN1TH Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-CMN1TH Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-CMNKIK Kennedy disease 8B61.4 Orphanet 481 TPD-CMNKIK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CMNKIK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CMNKIK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMPSD6 Kennedy disease 8B61.4 Orphanet 481 TPD-CMPSD6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CMPSD6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CMPSD6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CMSEZ0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CMSEZ0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CMTSRX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CMWWXY Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-CMWWXY Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-CMWWXY Primary myelofibrosis 2A20.2 Orphanet 824 TPD-CMWWXY Polycythemia vera 2A20.4 Orphanet 729 TPD-CMWWXY Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-CMWWXY Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-CMWWXY T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-CN0PT6 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-CN3BEM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CN3BEM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CN3R0D Hirschsprung disease LB16.1 Orphanet 388 TPD-CN3R0D Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-CN3R0D Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-CNANTB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CNANTB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CNANTB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CNANTB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CNANTR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CNAQU6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CNAQU6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CNBGA7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CNBGA7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CNBGA7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CNBGA7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CNCMLX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CNCMLX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CNDYFL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CNDYFL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CNDYFL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CNDYFL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CNFPOH Kennedy disease 8B61.4 Orphanet 481 TPD-CNFPOH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CNFPOH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CNFPOH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CNGNH2 Noonan syndrome LD2F.15 Orphanet 648 TPD-CNGNH2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CNGNH2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CNGNH2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CNGNH2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CNGNH2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CNGNH2 Lynch syndrome 2B90.Y Orphanet 144 TPD-CNGNH2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CNGNH2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CNGYCK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CNJY0B Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-CNJY0B Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-CNK49O Noonan syndrome LD2F.15 Orphanet 648 TPD-CNK49O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CNK49O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CNK49O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CNK49O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CNK49O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CNK49O Lynch syndrome 2B90.Y Orphanet 144 TPD-CNK49O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CNK49O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CNM166 Kennedy disease 8B61.4 Orphanet 481 TPD-CNM166 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CNM166 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CNM166 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CNMPMP Kennedy disease 8B61.4 Orphanet 481 TPD-CNMPMP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CNMPMP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CNMPMP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CNPZG3 Familial melanoma QC61.Y Orphanet 618 TPD-CNPZG3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CNRHSB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CNRHSB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CNRHSB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CNRHSB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CNV5I3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CNV5I3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CNV5I3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CNV5I3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CNV9OG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CNX1KK Kennedy disease 8B61.4 Orphanet 481 TPD-CNX1KK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CNX1KK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CNX1KK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CNZ049 Noonan syndrome LD2F.15 Orphanet 648 TPD-CNZ049 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CNZ049 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CNZ049 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CNZ049 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CNZ049 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CNZ049 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CNZ049 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CNZ049 Craniopharyngioma 2F9A Orphanet 54595 TPD-CNZ049 Cushing disease 5A70.0 Orphanet 96253 TPD-CNZ6XY Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CNZX68 Weaver syndrome LD2C Orphanet 3447 TPD-COC0G9 Noonan syndrome LD2F.15 Orphanet 648 TPD-COC0G9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-COC0G9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-COC0G9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-COC0G9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-COC0G9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-COC0G9 Lynch syndrome 2B90.Y Orphanet 144 TPD-COC0G9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-COC0G9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-COCE7G Kennedy disease 8B61.4 Orphanet 481 TPD-COCE7G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-COCE7G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-COCE7G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-COE74A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-COE74A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-COJFOW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-COJU0A Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-COM67X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-COM67X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-COM67X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-COMBFR Familial melanoma QC61.Y Orphanet 618 TPD-COMBFR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CORC6U Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-CORC6U Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-CORC6U Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-CORC6U Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-CORC6U Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-CORC6U Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-CORC6U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CORC6U Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-CORC6U Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-COTY1I Kennedy disease 8B61.4 Orphanet 481 TPD-COTY1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-COTY1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-COTY1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-COY0XE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-COY0XE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-CP05B4 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-CP060B Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CP060B Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CP060B Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CP060B Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CP060B Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CP060B Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CP060B Semantic dementia 6D83 Orphanet 100069 TPD-CP060B Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CP45RT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CP5KTM Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-CP6JJ0 Kennedy disease 8B61.4 Orphanet 481 TPD-CP6JJ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CP6JJ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CP6JJ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CP7BXM Kennedy disease 8B61.4 Orphanet 481 TPD-CP7BXM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CP7BXM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CP7BXM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CPAOEZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CPAOEZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CPBZ6R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CPBZ6R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CPBZ6R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CPBZ6R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CPFG7O Noonan syndrome LD2F.15 Orphanet 648 TPD-CPFG7O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CPFG7O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CPFG7O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CPFG7O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CPFG7O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CPFG7O Lynch syndrome 2B90.Y Orphanet 144 TPD-CPFG7O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CPFG7O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CPFUTH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CPFUTH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CPFUTH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CPFXWG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CPFXWG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CPFXWG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CPFXWG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CPHG73 Noonan syndrome LD2F.15 Orphanet 648 TPD-CPHG73 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CPHG73 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CPHG73 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CPHG73 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CPHG73 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CPHG73 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CPHG73 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CPHG73 Craniopharyngioma 2F9A Orphanet 54595 TPD-CPHG73 Cushing disease 5A70.0 Orphanet 96253 TPD-CPI3FZ Noonan syndrome LD2F.15 Orphanet 648 TPD-CPI3FZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CPI3FZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CPI3FZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CPI3FZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CPI3FZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CPI3FZ Lynch syndrome 2B90.Y Orphanet 144 TPD-CPI3FZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CPI3FZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CPK4MR Kennedy disease 8B61.4 Orphanet 481 TPD-CPK4MR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CPK4MR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CPK4MR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CPM9PN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CPM9PN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CPPCYR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CPPCYR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CPPWMI Kennedy disease 8B61.4 Orphanet 481 TPD-CPPWMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CPPWMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CPPWMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CPQJGX Kennedy disease 8B61.4 Orphanet 481 TPD-CPQJGX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CPQJGX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CPQJGX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CPR7GD Noonan syndrome LD2F.15 Orphanet 648 TPD-CPR7GD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CPR7GD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CPR7GD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CPR7GD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CPR7GD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CPR7GD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CPR7GD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CPR7GD Craniopharyngioma 2F9A Orphanet 54595 TPD-CPR7GD Cushing disease 5A70.0 Orphanet 96253 TPD-CPRI7H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CPRT7E Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-CPRX8Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CPRX8Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CPSB7T Familial melanoma QC61.Y Orphanet 618 TPD-CPSB7T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CQ68PN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CQ68PN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CQ68PN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CQ6OQD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CQ7Y7V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CQ7Y7V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CQ7Y7V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CQ8VMU Noonan syndrome LD2F.15 Orphanet 648 TPD-CQ8VMU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CQ8VMU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CQ8VMU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CQ8VMU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CQ8VMU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CQ8VMU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CQ8VMU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CQ8VMU Craniopharyngioma 2F9A Orphanet 54595 TPD-CQ8VMU Cushing disease 5A70.0 Orphanet 96253 TPD-CQGAUL Familial melanoma QC61.Y Orphanet 618 TPD-CQGAUL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CQI7QA Noonan syndrome LD2F.15 Orphanet 648 TPD-CQI7QA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CQI7QA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CQI7QA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CQI7QA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CQI7QA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CQI7QA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CQI7QA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CQI7QA Craniopharyngioma 2F9A Orphanet 54595 TPD-CQI7QA Cushing disease 5A70.0 Orphanet 96253 TPD-CQJPPB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CQJPPB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CQJPPB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CQJPPB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CQNERX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CQQ88E Kennedy disease 8B61.4 Orphanet 481 TPD-CQQ88E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CQQ88E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CQQ88E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CQRS35 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-CQRS35 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-CQTD5Q Kennedy disease 8B61.4 Orphanet 481 TPD-CQTD5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CQTD5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CQTD5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CQUMCM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CQUMCM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CR19GY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CR19GY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CR19GY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CR343W Kennedy disease 8B61.4 Orphanet 481 TPD-CR343W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CR343W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CR343W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CR7ZJ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CR7ZJ1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CR9POF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CR9POF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CR9POF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CR9POF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CRA36G Kennedy disease 8B61.4 Orphanet 481 TPD-CRA36G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CRA36G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CRA36G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CRBOGH Kennedy disease 8B61.4 Orphanet 481 TPD-CRBOGH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CRBOGH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CRBOGH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CRCNJO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CRCVP3 Kennedy disease 8B61.4 Orphanet 481 TPD-CRCVP3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CRCVP3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CRCVP3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CREMPE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CREMPE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CRGUWX Familial melanoma QC61.Y Orphanet 618 TPD-CRGUWX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CRK0JM Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-CRKIDT Noonan syndrome LD2F.15 Orphanet 648 TPD-CRKIDT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CRKIDT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CRKIDT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CRKIDT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CRKIDT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CRKIDT Lynch syndrome 2B90.Y Orphanet 144 TPD-CRKIDT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CRKIDT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CRKNM1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-CRM3DN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CRPSX6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CRPSX6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CRWR2N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CRWR2N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CRWR2N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CRYOSC Noonan syndrome LD2F.15 Orphanet 648 TPD-CRYOSC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CRYOSC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CRYOSC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CRYOSC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CRYOSC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CRYOSC Lynch syndrome 2B90.Y Orphanet 144 TPD-CRYOSC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CRYOSC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CRYR4I Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CS1E8E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CS1E8E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CS2H1X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CS2H1X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CS3NLQ Noonan syndrome LD2F.15 Orphanet 648 TPD-CS3NLQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-CS6068 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CS6068 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CS6068 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CS6AGI Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-CS84XF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CS84XF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CS84XF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CS92GC Familial melanoma QC61.Y Orphanet 618 TPD-CS92GC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CSB9VH Kennedy disease 8B61.4 Orphanet 481 TPD-CSB9VH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CSB9VH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CSB9VH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CSBYJU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CSC7EY Kennedy disease 8B61.4 Orphanet 481 TPD-CSC7EY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CSC7EY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CSC7EY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CSCL1U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CSCL1U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CSCL1U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CSCL1U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CSDGK7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CSGT5G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CSGT5G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CSGT5G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CSGT5G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CSJK88 Familial melanoma QC61.Y Orphanet 618 TPD-CSJK88 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CSJLPQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CSL1MA Kennedy disease 8B61.4 Orphanet 481 TPD-CSL1MA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CSL1MA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CSL1MA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CSO4NZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CSO4NZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CSO4NZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CSO4NZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CSO8OT Kennedy disease 8B61.4 Orphanet 481 TPD-CSO8OT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CSO8OT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CSO8OT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CSSYTT Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-CSSYTT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-CT0EQU Kennedy disease 8B61.4 Orphanet 481 TPD-CT0EQU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CT0EQU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CT0EQU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CT3SJI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CT45CL Kennedy disease 8B61.4 Orphanet 481 TPD-CT45CL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CT45CL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CT45CL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CT4E9I Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CT4E9I Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CT4E9I Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CT4E9I Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CT4E9I Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CT4E9I Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CT4E9I Semantic dementia 6D83 Orphanet 100069 TPD-CT4E9I Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CT4EZ9 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CT4EZ9 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CT4EZ9 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CT4EZ9 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CT4EZ9 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CT4EZ9 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CT4EZ9 Semantic dementia 6D83 Orphanet 100069 TPD-CT4EZ9 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CT4FMM Kennedy disease 8B61.4 Orphanet 481 TPD-CT4FMM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CT4FMM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CT4FMM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CT5IIU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CT5IIU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CT5IIU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CT5IIU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CT6371 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CT6371 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CT6371 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CT6371 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CT769C Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CT769C Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CT769C Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CT769C Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CT769C Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CT769C Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CT769C Semantic dementia 6D83 Orphanet 100069 TPD-CT769C Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CTDGGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-CTDGGZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CTDGGZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CTDGGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CTDGGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CTDGGZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CTDGGZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CTDGGZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CTDGGZ Craniopharyngioma 2F9A Orphanet 54595 TPD-CTDGGZ Cushing disease 5A70.0 Orphanet 96253 TPD-CTE121 Noonan syndrome LD2F.15 Orphanet 648 TPD-CTE121 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CTE121 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CTE121 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CTE121 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CTE121 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CTE121 Lynch syndrome 2B90.Y Orphanet 144 TPD-CTE121 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CTE121 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CTFY3T Noonan syndrome LD2F.15 Orphanet 648 TPD-CTFY3T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CTFY3T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CTFY3T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CTFY3T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CTFY3T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CTFY3T Lynch syndrome 2B90.Y Orphanet 144 TPD-CTFY3T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CTFY3T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CTFZDC Kennedy disease 8B61.4 Orphanet 481 TPD-CTFZDC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CTFZDC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CTFZDC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CTIRTE Kennedy disease 8B61.4 Orphanet 481 TPD-CTIRTE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CTIRTE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CTIRTE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CTL3NJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CTL3NJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CTL3NJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CTL3NJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CTN5JX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CTO54S Familial melanoma QC61.Y Orphanet 618 TPD-CTO54S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CTODPZ Achondroplasia LD24.00 Orphanet 15 TPD-CTODPZ Hypochondroplasia LD24.01 Orphanet 429 TPD-CTODPZ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-CTODPZ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-CTODPZ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-CTODPZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CTODPZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CTODPZ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-CTODPZ Muenke syndrome LD24.GY Orphanet 53271 TPD-CTODPZ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-CTODPZ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-CTODPZ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-CTPA01 Kennedy disease 8B61.4 Orphanet 481 TPD-CTPA01 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CTPA01 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CTPA01 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CTRLTR Kennedy disease 8B61.4 Orphanet 481 TPD-CTRLTR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CTRLTR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CTRLTR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CTRYQL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-CTUL0E Noonan syndrome LD2F.15 Orphanet 648 TPD-CTUL0E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CTUL0E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CTUL0E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CTUL0E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CTUL0E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CTUL0E Lynch syndrome 2B90.Y Orphanet 144 TPD-CTUL0E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CTUL0E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CTVA4Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CTW6A8 Noonan syndrome LD2F.15 Orphanet 648 TPD-CTW6A8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CTW6A8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CTW6A8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CTW6A8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CTW6A8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CTW6A8 Lynch syndrome 2B90.Y Orphanet 144 TPD-CTW6A8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CTW6A8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CU2S2C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CU2S2C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CU2S2C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CU3295 Kennedy disease 8B61.4 Orphanet 481 TPD-CU3295 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CU3295 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CU3295 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CU5UQD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CU5UQD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CU6GIS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CU963J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CU963J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CU963J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CU9MLQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CU9MLQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CU9YDG Kennedy disease 8B61.4 Orphanet 481 TPD-CU9YDG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CU9YDG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CU9YDG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CUBR2Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CUBR2Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CUBR2Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CUC1NO Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-CUC1NO Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-CUC1NO Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-CUDB84 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CUF8MA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-CUHO3L Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CUIPSF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CUIPSF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CUIPSF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CUIXNR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CUIXNR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CUK0MZ Noonan syndrome LD2F.15 Orphanet 648 TPD-CUK0MZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CUK0MZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CUK0MZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CUK0MZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CUK0MZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CUK0MZ Lynch syndrome 2B90.Y Orphanet 144 TPD-CUK0MZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CUK0MZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CUKASD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CUKMC5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CUKMC5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CUKMC5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CUKMC5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CUKMC5 Neuroblastoma 2A00.11 Orphanet 635 TPD-CUKMC5 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-CUKMC5 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-CUKMC5 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-CUKMC5 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-CUMKUN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CUMKUN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CUMKUN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CUMKUN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CUSBL2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CUSBL2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CUSBL2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CUUD5W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CUUD5W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CUUD5W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CUUSN3 Familial melanoma QC61.Y Orphanet 618 TPD-CUUSN3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CUV3XJ Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-CUVUAV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CUWYDQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CUWYDQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CUX7I5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CUYTUM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CUYTUM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CUYTUM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CUYTUM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CV4MIY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CV55FH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CVAUWR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CVAUWR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CVCDO5 Familial melanoma QC61.Y Orphanet 618 TPD-CVCDO5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CVDB6N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CVDB6N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CVI64G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CVI64G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CVJF7Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CVLBAG Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-CVLT0A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CVLT0A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CVLT0A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CVLT0A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CVM8QW Kennedy disease 8B61.4 Orphanet 481 TPD-CVM8QW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CVM8QW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CVM8QW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CVNI0J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CVNI0J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CVNI0J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CVQJCD Noonan syndrome LD2F.15 Orphanet 648 TPD-CVQJCD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CVQJCD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CVQJCD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CVQJCD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CVQJCD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CVQJCD Lynch syndrome 2B90.Y Orphanet 144 TPD-CVQJCD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CVQJCD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CVVFHS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CVVFHS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-CVVFHS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CVVS58 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-CVVS58 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-CVVS58 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-CVWAML Kennedy disease 8B61.4 Orphanet 481 TPD-CVWAML Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CVWAML Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CVWAML Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CVZ8KG Familial melanoma QC61.Y Orphanet 618 TPD-CVZ8KG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CVZIAF Kennedy disease 8B61.4 Orphanet 481 TPD-CVZIAF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CVZIAF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CVZIAF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CW0EIL Familial melanoma QC61.Y Orphanet 618 TPD-CW0EIL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CW3SCL Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-CW3SCL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CW3SCL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CW3SCL Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-CW3SCL Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-CW3SCL Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-CW3SCL Osteosarcoma 2B51 Orphanet 668 TPD-CW3SCL Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-CW3SCL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CW3SCL Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-CW3SCL Small cell lung cancer 2C25.1 Orphanet 70573 TPD-CW3SCL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CW3SCL Cushing disease 5A70.0 Orphanet 96253 TPD-CW3SCL Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-CW3SCL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CW46OG Noonan syndrome LD2F.15 Orphanet 648 TPD-CW46OG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CW46OG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CW46OG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CW46OG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CW46OG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CW46OG Lynch syndrome 2B90.Y Orphanet 144 TPD-CW46OG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CW46OG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CW4ONT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CW513M Kennedy disease 8B61.4 Orphanet 481 TPD-CW513M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CW513M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CW513M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CW61OQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CW6L6F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CW6L6F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CWB2LZ Kennedy disease 8B61.4 Orphanet 481 TPD-CWB2LZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CWB2LZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CWB2LZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CWF8PK Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-CWF8PK Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-CWGH90 Kennedy disease 8B61.4 Orphanet 481 TPD-CWGH90 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CWGH90 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CWGH90 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CWHLTG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CWHLTG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CWHLTG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CWIC0Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CWOPWX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CWR9JA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CWR9JA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CWR9JA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CWR9JA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CWSC6K Familial melanoma QC61.Y Orphanet 618 TPD-CWSC6K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CWVACN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CWVACN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CWVACN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CWVACN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CWVACN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CWVACN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CWVACN Semantic dementia 6D83 Orphanet 100069 TPD-CWVACN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CWVEMP Kennedy disease 8B61.4 Orphanet 481 TPD-CWVEMP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CWVEMP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CWVEMP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CWVL50 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CWVL50 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CWVL50 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CWWC5B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CWWC5B Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CWZGI7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CWZGI7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CWZGI7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CWZGI7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CWZGI7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CWZGI7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CWZGI7 Semantic dementia 6D83 Orphanet 100069 TPD-CWZGI7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CX0N8X Noonan syndrome LD2F.15 Orphanet 648 TPD-CX0N8X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CX0N8X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CX0N8X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CX0N8X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CX0N8X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CX0N8X Lynch syndrome 2B90.Y Orphanet 144 TPD-CX0N8X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CX0N8X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CX2726 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CX2726 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CX2726 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CX3LZL Noonan syndrome LD2F.15 Orphanet 648 TPD-CX3LZL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-CX3LZL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-CX3LZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CX3LZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CX3LZL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-CX3LZL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-CX3LZL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-CX3LZL Craniopharyngioma 2F9A Orphanet 54595 TPD-CX3LZL Cushing disease 5A70.0 Orphanet 96253 TPD-CX4EIV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-CX4IK8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CX4LXK Kennedy disease 8B61.4 Orphanet 481 TPD-CX4LXK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CX4LXK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CX4LXK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CX4PIF Noonan syndrome LD2F.15 Orphanet 648 TPD-CX4PIF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CX4PIF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CX4PIF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CX4PIF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CX4PIF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CX4PIF Lynch syndrome 2B90.Y Orphanet 144 TPD-CX4PIF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CX4PIF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CX6ULM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CX6ULM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CXA3NY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CXA3NY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CXA3NY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CXBVNH Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-CXBVNH Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-CXBVNH Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-CXBVNH Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-CXBVNH Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-CXBVNH Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-CXBVNH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CXBVNH Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-CXBVNH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-CXCH4T Achondroplasia LD24.00 Orphanet 15 TPD-CXCH4T Hypochondroplasia LD24.01 Orphanet 429 TPD-CXCH4T Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-CXCH4T Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-CXCH4T Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-CXCH4T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CXCH4T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CXCH4T Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-CXCH4T Muenke syndrome LD24.GY Orphanet 53271 TPD-CXCH4T Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-CXCH4T Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-CXCH4T Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-CXDR90 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CXDR90 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CXDR90 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CXHLAN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CXHLAN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CXHLAN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CXHLAN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CXHLAN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CXHLAN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CXHLAN Semantic dementia 6D83 Orphanet 100069 TPD-CXHLAN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-CXIRNJ Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-CXIRNJ Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-CXIRNJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CXIRNJ Distal myopathy, Welander type 8C75 Orphanet 603 TPD-CXNOC0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CXNOC0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CY4PAB Noonan syndrome LD2F.15 Orphanet 648 TPD-CY4PAB Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-CYBHZY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-CYBQQF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-CYBQQF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-CYK84A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CYK84A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CYK84A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CYKGHO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CYM4W4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-CYU6D9 Kennedy disease 8B61.4 Orphanet 481 TPD-CYU6D9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CYU6D9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CYU6D9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CYUYFJ Cystic fibrosis CA25 Orphanet 586 TPD-CYUYFJ Congenital bilateral absence of vas deferens LB57 Orphanet 48 TPD-CYUYFJ Male infertility with azoospermia or oligozoospermia due to single gene mutation GB04.0 Orphanet 399805 TPD-CYUYFJ Aquagenic palmoplantar keratoderma EK5Y Orphanet 498359 TPD-CYUYFJ Idiopathic bronchiectasis CA24 Orphanet 60033 TPD-CYUYFJ Autosomal recessive hereditary chronic pancreatitis DC32.2 Orphanet 700124 TPD-CYXFCA Kennedy disease 8B61.4 Orphanet 481 TPD-CYXFCA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CYXFCA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CYXFCA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CYXJGS Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-CYXJGS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CYXJGS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CYXJGS Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-CYXJGS Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-CYXJGS Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-CYXJGS Osteosarcoma 2B51 Orphanet 668 TPD-CYXJGS Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-CYXJGS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CYXJGS Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-CYXJGS Small cell lung cancer 2C25.1 Orphanet 70573 TPD-CYXJGS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-CYXJGS Cushing disease 5A70.0 Orphanet 96253 TPD-CYXJGS Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-CYXJGS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CYZOV2 Noonan syndrome LD2F.15 Orphanet 648 TPD-CYZOV2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CYZOV2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CYZOV2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CYZOV2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CYZOV2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CYZOV2 Lynch syndrome 2B90.Y Orphanet 144 TPD-CYZOV2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CYZOV2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CZ0WXO Familial melanoma QC61.Y Orphanet 618 TPD-CZ0WXO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-CZ2NTY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CZ2NTY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CZ2NTY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CZ49WH Kennedy disease 8B61.4 Orphanet 481 TPD-CZ49WH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CZ49WH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CZ49WH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CZ4GCR Noonan syndrome LD2F.15 Orphanet 648 TPD-CZ4GCR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CZ4GCR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CZ4GCR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CZ4GCR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CZ4GCR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CZ4GCR Lynch syndrome 2B90.Y Orphanet 144 TPD-CZ4GCR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CZ4GCR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CZCKQE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-CZCKQE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-CZCKQE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-CZEP6W Kennedy disease 8B61.4 Orphanet 481 TPD-CZEP6W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CZEP6W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CZEP6W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CZI6E9 Noonan syndrome LD2F.15 Orphanet 648 TPD-CZI6E9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-CZI6E9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-CZI6E9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-CZI6E9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-CZI6E9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-CZI6E9 Lynch syndrome 2B90.Y Orphanet 144 TPD-CZI6E9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-CZI6E9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-CZIPWF Kennedy disease 8B61.4 Orphanet 481 TPD-CZIPWF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CZIPWF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CZIPWF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CZK1IG Kennedy disease 8B61.4 Orphanet 481 TPD-CZK1IG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-CZK1IG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-CZK1IG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-CZLTHQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-CZLTHQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-CZLTHQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-CZVO2E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-CZVO2E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-CZXXLW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-CZXXLW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-CZZ9C6 Familial melanoma QC61.Y Orphanet 618 TPD-CZZ9C6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D08IIJ Kennedy disease 8B61.4 Orphanet 481 TPD-D08IIJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D08IIJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D08IIJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D0A68Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D0AEWS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D0AEWS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D0AEWS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D0ALGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-D0ALGZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D0ALGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D0ALGZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D0ALGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D0ALGZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D0ALGZ Lynch syndrome 2B90.Y Orphanet 144 TPD-D0ALGZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D0ALGZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D0B2MH Weaver syndrome LD2C Orphanet 3447 TPD-D0DUOP Cystic fibrosis CA25 Orphanet 586 TPD-D0DUOP Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-D0DYAL Familial melanoma QC61.Y Orphanet 618 TPD-D0DYAL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D0ECKA Familial melanoma QC61.Y Orphanet 618 TPD-D0ECKA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D0H2AF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D0ONPS Familial melanoma QC61.Y Orphanet 618 TPD-D0ONPS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D0RCHW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D0SXJ8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D0SXJ8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D0XJ4H Kennedy disease 8B61.4 Orphanet 481 TPD-D0XJ4H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D0XJ4H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D0XJ4H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D0YEI5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D0YEI5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D0YEI5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D11NZE Noonan syndrome LD2F.15 Orphanet 648 TPD-D11NZE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D11NZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D11NZE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D11NZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D11NZE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D11NZE Lynch syndrome 2B90.Y Orphanet 144 TPD-D11NZE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D11NZE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D15Z7B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D180UH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D180UH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-D18GJU Kennedy disease 8B61.4 Orphanet 481 TPD-D18GJU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D18GJU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D18GJU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D18KX7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D18XOQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D1934C Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-D1CK7G Noonan syndrome LD2F.15 Orphanet 648 TPD-D1CK7G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D1CK7G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D1CK7G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D1CK7G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D1CK7G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D1CK7G Lynch syndrome 2B90.Y Orphanet 144 TPD-D1CK7G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D1CK7G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D1CLXW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D1CLXW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D1CLXW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D1CLXW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D1CR94 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-D1CR94 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-D1CR94 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-D1CR94 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-D1CR94 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-D1CR94 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-D1CR94 Semantic dementia 6D83 Orphanet 100069 TPD-D1CR94 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-D1HZLC Familial melanoma QC61.Y Orphanet 618 TPD-D1HZLC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D1OUUL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D1OUUL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D1OUUL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D1XW93 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-D1Z2H8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D2288Z Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-D2288Z Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-D2288Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-D2288Z Distal myopathy, Welander type 8C75 Orphanet 603 TPD-D2288Z Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-D2288Z Desminopathy 8C76 Orphanet 98909 TPD-D26E41 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D26E41 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D26E41 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D26O26 Noonan syndrome LD2F.15 Orphanet 648 TPD-D26O26 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-D26O26 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-D26O26 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D26O26 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D26O26 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-D26O26 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-D26O26 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-D26O26 Craniopharyngioma 2F9A Orphanet 54595 TPD-D26O26 Cushing disease 5A70.0 Orphanet 96253 TPD-D2BBUG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D2LT4S Noonan syndrome LD2F.15 Orphanet 648 TPD-D2LT4S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D2LT4S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D2LT4S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D2LT4S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D2LT4S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D2LT4S Lynch syndrome 2B90.Y Orphanet 144 TPD-D2LT4S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D2LT4S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D2LUOG Noonan syndrome LD2F.15 Orphanet 648 TPD-D2LUOG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D2LUOG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D2LUOG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D2LUOG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D2LUOG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D2LUOG Lynch syndrome 2B90.Y Orphanet 144 TPD-D2LUOG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D2LUOG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D2VM6N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-D2VM6N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-D2XR50 Kennedy disease 8B61.4 Orphanet 481 TPD-D2XR50 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D2XR50 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D2XR50 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D2Z6ZP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D2Z6ZP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D2Z6ZP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D2Z6ZP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D32WV7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-D32WV7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-D36B2Q Noonan syndrome LD2F.15 Orphanet 648 TPD-D36B2Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D36B2Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D36B2Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D36B2Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D36B2Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D36B2Q Lynch syndrome 2B90.Y Orphanet 144 TPD-D36B2Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D36B2Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D36OU6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D36OU6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D378SP Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-D3BAW4 Noonan syndrome LD2F.15 Orphanet 648 TPD-D3BAW4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D3BAW4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D3BAW4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D3BAW4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D3BAW4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D3BAW4 Lynch syndrome 2B90.Y Orphanet 144 TPD-D3BAW4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D3BAW4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D3CFOM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D3CFOM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D3CFOM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D3KXVM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-D3LIOF Kennedy disease 8B61.4 Orphanet 481 TPD-D3LIOF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D3LIOF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D3LIOF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D3OZVL Noonan syndrome LD2F.15 Orphanet 648 TPD-D3OZVL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D3OZVL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D3OZVL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D3OZVL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D3OZVL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D3OZVL Lynch syndrome 2B90.Y Orphanet 144 TPD-D3OZVL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D3OZVL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D3R75C Noonan syndrome LD2F.15 Orphanet 648 TPD-D3R75C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D3R75C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D3R75C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D3R75C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D3R75C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D3R75C Lynch syndrome 2B90.Y Orphanet 144 TPD-D3R75C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D3R75C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D3RPQ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-D3RPQ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D3RPQ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D3RPQ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D3RPQ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D3RPQ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D3RPQ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-D3RPQ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D3RPQ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D3WVTP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D3X5R7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D3X5R7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D3X5R7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D3Z0XV Noonan syndrome LD2F.15 Orphanet 648 TPD-D3Z0XV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D3Z0XV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D3Z0XV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D3Z0XV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D3Z0XV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D3Z0XV Lynch syndrome 2B90.Y Orphanet 144 TPD-D3Z0XV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D3Z0XV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D419OY Kennedy disease 8B61.4 Orphanet 481 TPD-D419OY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D419OY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D419OY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D420XJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D49XJN Noonan syndrome LD2F.15 Orphanet 648 TPD-D49XJN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-D4EEH2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D4EEH2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D4EEH2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D4H376 Kennedy disease 8B61.4 Orphanet 481 TPD-D4H376 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D4H376 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D4H376 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D4JSFC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D4JSFC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D4JSFC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D4JSFC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-D4JSFC Neuroblastoma 2A00.11 Orphanet 635 TPD-D4JSFC Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-D4JSFC ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-D4JSFC ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-D4JSFC Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-D4KEJO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D4NFER Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D4NFER Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D4NFER B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D4NFER B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D4OMKV Noonan syndrome LD2F.15 Orphanet 648 TPD-D4OMKV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-D4OMKV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-D4OMKV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D4OMKV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D4OMKV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-D4OMKV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-D4OMKV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-D4OMKV Craniopharyngioma 2F9A Orphanet 54595 TPD-D4OMKV Cushing disease 5A70.0 Orphanet 96253 TPD-D4S8OF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D4SRVG Kennedy disease 8B61.4 Orphanet 481 TPD-D4SRVG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D4SRVG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D4SRVG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D4UFCL Familial melanoma QC61.Y Orphanet 618 TPD-D4UFCL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D4UHO1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D4UHO1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-D4X5SF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-D4X9H5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-D4XPJZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D4XPJZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D4XPJZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D4YST6 Kennedy disease 8B61.4 Orphanet 481 TPD-D4YST6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D4YST6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D4YST6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D4ZDLS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D4ZDLS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D4ZDLS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D4ZDLS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D50L9U Noonan syndrome LD2F.15 Orphanet 648 TPD-D50L9U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-D50L9U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-D50L9U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D50L9U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D50L9U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-D50L9U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-D50L9U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-D50L9U Craniopharyngioma 2F9A Orphanet 54595 TPD-D50L9U Cushing disease 5A70.0 Orphanet 96253 TPD-D51WWS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D51WWS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-D51WWS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D533FA Noonan syndrome LD2F.15 Orphanet 648 TPD-D533FA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D533FA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D533FA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D533FA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D533FA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D533FA Lynch syndrome 2B90.Y Orphanet 144 TPD-D533FA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D533FA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D567J9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-D567J9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-D56939 Noonan syndrome LD2F.15 Orphanet 648 TPD-D56939 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D56939 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D56939 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D56939 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D56939 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D56939 Lynch syndrome 2B90.Y Orphanet 144 TPD-D56939 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D56939 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D56RL3 Familial melanoma QC61.Y Orphanet 618 TPD-D56RL3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D57RWM Kennedy disease 8B61.4 Orphanet 481 TPD-D57RWM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D57RWM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D57RWM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D59NAK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D59NAK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D59NAK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D59VJX Familial melanoma QC61.Y Orphanet 618 TPD-D59VJX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D5B3MA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D5B85E Familial melanoma QC61.Y Orphanet 618 TPD-D5CRKI Kennedy disease 8B61.4 Orphanet 481 TPD-D5CRKI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D5CRKI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D5CRKI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D5D0RX Kennedy disease 8B61.4 Orphanet 481 TPD-D5D0RX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D5D0RX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D5D0RX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D5D2S8 Kennedy disease 8B61.4 Orphanet 481 TPD-D5D2S8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D5D2S8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D5D2S8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D5DJF2 Kennedy disease 8B61.4 Orphanet 481 TPD-D5DJF2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D5DJF2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D5DJF2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D5ECYD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D5EE4F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D5EE4F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-D5GAH1 Kennedy disease 8B61.4 Orphanet 481 TPD-D5GAH1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D5GAH1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D5GAH1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D5OCN2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D5OCN2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D5OCN2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D5OCN2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D5STU7 Weaver syndrome LD2C Orphanet 3447 TPD-D5Y8J5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D618MO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D61CIB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D61CIB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-D625VX Familial melanoma QC61.Y Orphanet 618 TPD-D625VX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D628QS Noonan syndrome LD2F.15 Orphanet 648 TPD-D628QS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-D628QS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-D628QS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D628QS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D628QS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-D628QS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-D628QS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-D628QS Craniopharyngioma 2F9A Orphanet 54595 TPD-D628QS Cushing disease 5A70.0 Orphanet 96253 TPD-D654CA Noonan syndrome LD2F.15 Orphanet 648 TPD-D654CA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D654CA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D654CA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D654CA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D654CA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D654CA Lynch syndrome 2B90.Y Orphanet 144 TPD-D654CA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D654CA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D65THD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D6A8NM Kennedy disease 8B61.4 Orphanet 481 TPD-D6A8NM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D6A8NM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D6A8NM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D6B4MJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D6BQN2 Noonan syndrome LD2F.15 Orphanet 648 TPD-D6BQN2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D6BQN2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D6BQN2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D6BQN2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D6BQN2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D6BQN2 Lynch syndrome 2B90.Y Orphanet 144 TPD-D6BQN2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D6BQN2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D6D48I Kennedy disease 8B61.4 Orphanet 481 TPD-D6D48I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D6D48I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D6D48I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D6DMEZ Kennedy disease 8B61.4 Orphanet 481 TPD-D6DMEZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D6DMEZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D6DMEZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D6KVMF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D6KVMF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-D6KVMF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D6LLOK Noonan syndrome LD2F.15 Orphanet 648 TPD-D6LLOK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D6LLOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D6LLOK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D6LLOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D6LLOK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D6LLOK Lynch syndrome 2B90.Y Orphanet 144 TPD-D6LLOK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D6LLOK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D6QAH6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D6QAH6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-D6TX2E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D6UZSC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D6VG1U Noonan syndrome LD2F.15 Orphanet 648 TPD-D6VG1U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D6VG1U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D6VG1U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D6VG1U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D6VG1U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D6VG1U Lynch syndrome 2B90.Y Orphanet 144 TPD-D6VG1U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D6VG1U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D6VNM6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-D6VNM6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-D6VNM6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-D6XAVW Kennedy disease 8B61.4 Orphanet 481 TPD-D6XAVW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D6XAVW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D6XAVW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D6ZFHV Noonan syndrome LD2F.15 Orphanet 648 TPD-D6ZFHV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-D6ZR2O Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-D6ZR2O Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-D70MFK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D70MFK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D70MFK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D71ELO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D71ELO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D7370B Noonan syndrome LD2F.15 Orphanet 648 TPD-D7370B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D7370B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D7370B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D7370B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D7370B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D7370B Lynch syndrome 2B90.Y Orphanet 144 TPD-D7370B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D7370B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D73DCQ Noonan syndrome LD2F.15 Orphanet 648 TPD-D73DCQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D73DCQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D73DCQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D73DCQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D73DCQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D73DCQ Lynch syndrome 2B90.Y Orphanet 144 TPD-D73DCQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D73DCQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D767QT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D76FB1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-D76FB1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-D78IZM Kennedy disease 8B61.4 Orphanet 481 TPD-D78IZM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D78IZM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D78IZM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D7C2RG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D7DU2A Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-D7F8U3 Noonan syndrome LD2F.15 Orphanet 648 TPD-D7F8U3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D7F8U3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D7F8U3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D7F8U3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D7F8U3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D7F8U3 Lynch syndrome 2B90.Y Orphanet 144 TPD-D7F8U3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D7F8U3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D7H63X Kennedy disease 8B61.4 Orphanet 481 TPD-D7H63X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D7H63X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D7H63X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D7I5UG Noonan syndrome LD2F.15 Orphanet 648 TPD-D7I5UG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D7I5UG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D7I5UG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D7I5UG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D7I5UG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D7I5UG Lynch syndrome 2B90.Y Orphanet 144 TPD-D7I5UG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D7I5UG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D7MXYV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D7MXYV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D7MY1T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D7MY1T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D7RKL3 Kennedy disease 8B61.4 Orphanet 481 TPD-D7RKL3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D7RKL3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D7RKL3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D7SUIS Kennedy disease 8B61.4 Orphanet 481 TPD-D7SUIS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D7SUIS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D7SUIS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D7VN8L Noonan syndrome LD2F.15 Orphanet 648 TPD-D7VN8L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D7VN8L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D7VN8L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D7VN8L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D7VN8L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D7VN8L Lynch syndrome 2B90.Y Orphanet 144 TPD-D7VN8L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D7VN8L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D7WU6U Kennedy disease 8B61.4 Orphanet 481 TPD-D7WU6U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D7WU6U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D7WU6U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D82G63 Noonan syndrome LD2F.15 Orphanet 648 TPD-D82G63 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D82G63 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D82G63 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D82G63 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D82G63 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D82G63 Lynch syndrome 2B90.Y Orphanet 144 TPD-D82G63 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D82G63 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D85B3G Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-D85H27 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-D85T5F Kennedy disease 8B61.4 Orphanet 481 TPD-D85T5F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D85T5F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D85T5F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D883NO Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-D883NO Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-D883NO Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-D883NO Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-D883NO Primary myelofibrosis 2A20.2 Orphanet 824 TPD-D883NO Polycythemia vera 2A20.4 Orphanet 729 TPD-D883NO Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-D89CXH Noonan syndrome LD2F.15 Orphanet 648 TPD-D89CXH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D89CXH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D89CXH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D89CXH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D89CXH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D89CXH Lynch syndrome 2B90.Y Orphanet 144 TPD-D89CXH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D89CXH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D89IN4 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-D89IN4 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-D8ASJY Kennedy disease 8B61.4 Orphanet 481 TPD-D8ASJY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D8ASJY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D8ASJY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D8FWXH Familial melanoma QC61.Y Orphanet 618 TPD-D8FWXH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-D8G7R4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D8G7R4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D8G7R4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D8G7R4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D8HR8P Kennedy disease 8B61.4 Orphanet 481 TPD-D8HR8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D8HR8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D8HR8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D8KZ79 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D8KZ79 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D8QJPM Burkitt lymphoma XH4KA9 Orphanet 543 TPD-D8QJPM Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-D8U707 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-D8XRO6 Noonan syndrome LD2F.15 Orphanet 648 TPD-D8XRO6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D8XRO6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D8XRO6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D8XRO6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D8XRO6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D8XRO6 Lynch syndrome 2B90.Y Orphanet 144 TPD-D8XRO6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D8XRO6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D8YDRL Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-D8YDRL Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-D8YDRL Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-D8YDRL Distal myopathy, Welander type 8C75 Orphanet 603 TPD-D8YDRL Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-D8YDRL Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-D8YDRL Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-D8YDRL Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-D8YDRL Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-D8YDRL Semantic dementia 6D83 Orphanet 100069 TPD-D8YDRL Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-D8ZS65 Kennedy disease 8B61.4 Orphanet 481 TPD-D8ZS65 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D8ZS65 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D8ZS65 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D910XJ Kennedy disease 8B61.4 Orphanet 481 TPD-D910XJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D910XJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D910XJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D91ZT8 Noonan syndrome LD2F.15 Orphanet 648 TPD-D91ZT8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D91ZT8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D91ZT8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D91ZT8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D91ZT8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D91ZT8 Lynch syndrome 2B90.Y Orphanet 144 TPD-D91ZT8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D91ZT8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D96VDK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D96VDK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D96VDK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D96VDK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D976CA Kennedy disease 8B61.4 Orphanet 481 TPD-D976CA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D976CA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D976CA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D9ANRM Kennedy disease 8B61.4 Orphanet 481 TPD-D9ANRM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D9ANRM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D9ANRM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D9H1P2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D9H1P2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-D9H1P2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D9HD79 Noonan syndrome LD2F.15 Orphanet 648 TPD-D9HD79 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D9HD79 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D9HD79 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D9HD79 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D9HD79 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D9HD79 Lynch syndrome 2B90.Y Orphanet 144 TPD-D9HD79 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D9HD79 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D9HRAD Kennedy disease 8B61.4 Orphanet 481 TPD-D9HRAD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D9HRAD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D9HRAD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D9IISC Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-D9IXKL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D9J8R9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-D9J8R9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-D9OJIS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-D9OJIS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-D9OJIS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-D9OJIS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-D9PQDK Idiopathic pulmonary fibrosis CB03.4 Orphanet 2032 TPD-D9QEL8 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-D9QL1O Noonan syndrome LD2F.15 Orphanet 648 TPD-D9QL1O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D9QL1O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D9QL1O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D9QL1O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D9QL1O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D9QL1O Lynch syndrome 2B90.Y Orphanet 144 TPD-D9QL1O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D9QL1O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D9R6Y3 Noonan syndrome LD2F.15 Orphanet 648 TPD-D9R6Y3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D9R6Y3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D9R6Y3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D9R6Y3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D9R6Y3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D9R6Y3 Lynch syndrome 2B90.Y Orphanet 144 TPD-D9R6Y3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D9R6Y3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D9SW7A Noonan syndrome LD2F.15 Orphanet 648 TPD-D9SW7A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D9SW7A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D9SW7A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D9SW7A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D9SW7A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D9SW7A Lynch syndrome 2B90.Y Orphanet 144 TPD-D9SW7A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D9SW7A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D9TBVI Noonan syndrome LD2F.15 Orphanet 648 TPD-D9TBVI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-D9TBVI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-D9TBVI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-D9TBVI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-D9TBVI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-D9TBVI Lynch syndrome 2B90.Y Orphanet 144 TPD-D9TBVI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-D9TBVI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-D9XQH4 Kennedy disease 8B61.4 Orphanet 481 TPD-D9XQH4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D9XQH4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D9XQH4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-D9YY60 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-D9ZG5J Kennedy disease 8B61.4 Orphanet 481 TPD-D9ZG5J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-D9ZG5J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-D9ZG5J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DA3WDT Kennedy disease 8B61.4 Orphanet 481 TPD-DA3WDT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DA3WDT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DA3WDT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DA54T7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DA5Z0R Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DA5Z0R Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DA69NT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DA9X20 Noonan syndrome LD2F.15 Orphanet 648 TPD-DA9X20 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DA9X20 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DA9X20 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DA9X20 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DA9X20 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DA9X20 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DA9X20 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DA9X20 Craniopharyngioma 2F9A Orphanet 54595 TPD-DA9X20 Cushing disease 5A70.0 Orphanet 96253 TPD-DACLZE Noonan syndrome LD2F.15 Orphanet 648 TPD-DACLZE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DACLZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DACLZE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DACLZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DACLZE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DACLZE Lynch syndrome 2B90.Y Orphanet 144 TPD-DACLZE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DACLZE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DAEH6U Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DAEH6U Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DAEH6U Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DAEH6U Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DAEH6U Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DAEH6U Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DAEH6U Semantic dementia 6D83 Orphanet 100069 TPD-DAEH6U Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DAF3PD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DAF3PD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DAF3PD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DAM91Y Noonan syndrome LD2F.15 Orphanet 648 TPD-DAM91Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DAM91Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DAM91Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DAM91Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DAM91Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DAM91Y Lynch syndrome 2B90.Y Orphanet 144 TPD-DAM91Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DAM91Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DATKXX Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-DATKXX Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-DATKXX Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-DATKXX Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-DATKXX Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-DATKXX Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-DATKXX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DATKXX Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-DATKXX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DAZ5P9 Kennedy disease 8B61.4 Orphanet 481 TPD-DAZ5P9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DAZ5P9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DAZ5P9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DB173P Noonan syndrome LD2F.15 Orphanet 648 TPD-DB173P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DB173P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DB173P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DB173P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DB173P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DB173P Lynch syndrome 2B90.Y Orphanet 144 TPD-DB173P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DB173P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DB1YLG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DB28MO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DB28MO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DB34UL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DB34UL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DB34UL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DB34UL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DB4AX1 Noonan syndrome LD2F.15 Orphanet 648 TPD-DB4AX1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DB4AX1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DB4AX1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DB4AX1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DB4AX1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DB4AX1 Lynch syndrome 2B90.Y Orphanet 144 TPD-DB4AX1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DB4AX1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DB8B4U Noonan syndrome LD2F.15 Orphanet 648 TPD-DB8B4U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DB8B4U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DB8B4U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DB8B4U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DB8B4U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DB8B4U Lynch syndrome 2B90.Y Orphanet 144 TPD-DB8B4U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DB8B4U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DBC1UG Noonan syndrome LD2F.15 Orphanet 648 TPD-DBC1UG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DBC1UG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DBC1UG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DBC1UG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DBC1UG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DBC1UG Lynch syndrome 2B90.Y Orphanet 144 TPD-DBC1UG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DBC1UG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DBEPRP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DBERHG Familial melanoma QC61.Y Orphanet 618 TPD-DBF5U9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DBF5U9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DBFRMB Kennedy disease 8B61.4 Orphanet 481 TPD-DBFRMB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBFRMB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBFRMB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBHJ9E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DBHJ9E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DBM02W Kennedy disease 8B61.4 Orphanet 481 TPD-DBM02W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBM02W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBM02W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBMTQI Kennedy disease 8B61.4 Orphanet 481 TPD-DBMTQI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBMTQI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBMTQI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBOIO1 Familial melanoma QC61.Y Orphanet 618 TPD-DBOIO1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DBOTW7 Noonan syndrome LD2F.15 Orphanet 648 TPD-DBOTW7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DBOTW7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DBOTW7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DBOTW7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DBOTW7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DBOTW7 Lynch syndrome 2B90.Y Orphanet 144 TPD-DBOTW7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DBOTW7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DBR9MD Kennedy disease 8B61.4 Orphanet 481 TPD-DBR9MD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBR9MD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBR9MD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBSJB1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DBSJB1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DBSJB1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DBSJB1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DBSJB1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DBSJB1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DBSJB1 Semantic dementia 6D83 Orphanet 100069 TPD-DBSJB1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DBSS89 Kennedy disease 8B61.4 Orphanet 481 TPD-DBSS89 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBSS89 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBSS89 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBULME Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DBUQU4 Kennedy disease 8B61.4 Orphanet 481 TPD-DBUQU4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DBUQU4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DBUQU4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DBW0IB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DBW0IB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DBW0IB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DC130J Kennedy disease 8B61.4 Orphanet 481 TPD-DC130J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DC130J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DC130J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DC1ARU Noonan syndrome LD2F.15 Orphanet 648 TPD-DC1ARU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DC1ARU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DC1ARU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DC1ARU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DC1ARU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DC1ARU Lynch syndrome 2B90.Y Orphanet 144 TPD-DC1ARU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DC1ARU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DC21MU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DC21MU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DC273Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DC273Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DC273Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DC273Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DC32OF Noonan syndrome LD2F.15 Orphanet 648 TPD-DC32OF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DC32OF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DC32OF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DC32OF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DC32OF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DC32OF Lynch syndrome 2B90.Y Orphanet 144 TPD-DC32OF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DC32OF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DC35JW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DC35JW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DC35JW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DC8LIT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DC8LIT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DCBQGH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DCC1D8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DCCMC2 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-DCG357 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DCHLGC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DCHLGC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DCHLGC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DCJHBY Kennedy disease 8B61.4 Orphanet 481 TPD-DCJHBY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DCJHBY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DCJHBY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DCMN12 Noonan syndrome LD2F.15 Orphanet 648 TPD-DCMN12 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DCMN12 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DCMN12 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DCMN12 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DCMN12 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DCMN12 Lynch syndrome 2B90.Y Orphanet 144 TPD-DCMN12 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DCMN12 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DCOKNP Kennedy disease 8B61.4 Orphanet 481 TPD-DCOKNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DCOKNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DCOKNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DCQB69 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DCQB69 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DCQB69 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DCQB69 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DCS0C2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DCT8MU Familial melanoma QC61.Y Orphanet 618 TPD-DCT8MU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DCTCLH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DCTCLH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DCVHGH Kennedy disease 8B61.4 Orphanet 481 TPD-DCVHGH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DCVHGH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DCVHGH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DCW2PP Kennedy disease 8B61.4 Orphanet 481 TPD-DCW2PP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DCW2PP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DCW2PP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DCW6A4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DCW6A4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DCW6A4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DCW6A4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DCW6A4 Neuroblastoma 2A00.11 Orphanet 635 TPD-DCW6A4 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-DCW6A4 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-DCW6A4 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-DCW6A4 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-DD2B3V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DD2B3V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DD2B3V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DD3UX6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DD3UX6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DD49NA Kennedy disease 8B61.4 Orphanet 481 TPD-DD49NA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DD49NA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DD49NA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DDAL6U Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-DDAL6U Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-DDANGV Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-DDANGV Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-DDANGV Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-DDAQPX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DDD1P3 Kennedy disease 8B61.4 Orphanet 481 TPD-DDD1P3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DDD1P3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DDD1P3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DDIZSV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DDL42O Kennedy disease 8B61.4 Orphanet 481 TPD-DDL42O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DDL42O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DDL42O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DDLO3O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DDLO3O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DDRHHF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DDRHHF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DDRHHF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DDRHHF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DDRHHF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DDRHHF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DDRHHF Semantic dementia 6D83 Orphanet 100069 TPD-DDRHHF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DDTC92 Kennedy disease 8B61.4 Orphanet 481 TPD-DDTC92 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DDTC92 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DDTC92 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DDTF7C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DDTF7C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DDTF7C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DDTF7C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DDTOKZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DDTOKZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DDTOKZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DDXBB5 Noonan syndrome LD2F.15 Orphanet 648 TPD-DDXBB5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DDXBB5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DDXBB5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DDXBB5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DDXBB5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DDXBB5 Lynch syndrome 2B90.Y Orphanet 144 TPD-DDXBB5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DDXBB5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DE0J0O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DE0J0O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DE0J0O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DE0J0O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DE2CZH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DE2CZH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DE2EWE Familial melanoma QC61.Y Orphanet 618 TPD-DE2EWE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DE4307 Familial melanoma QC61.Y Orphanet 618 TPD-DE4307 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DE4HJ0 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-DE5QQJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DE662K Kennedy disease 8B61.4 Orphanet 481 TPD-DE662K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DE662K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DE662K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DE77ZI Kennedy disease 8B61.4 Orphanet 481 TPD-DE77ZI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DE77ZI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DE77ZI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DE9VNB Noonan syndrome LD2F.15 Orphanet 648 TPD-DE9VNB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DE9VNB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DE9VNB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DE9VNB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DE9VNB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DE9VNB Lynch syndrome 2B90.Y Orphanet 144 TPD-DE9VNB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DE9VNB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DEADZL Noonan syndrome LD2F.15 Orphanet 648 TPD-DEADZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DEADZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DEADZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DEADZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DEADZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DEADZL Lynch syndrome 2B90.Y Orphanet 144 TPD-DEADZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DEADZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DEAYNW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DECEQF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DED4GI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DED6WQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DED6WQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DEH1IC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DEIPWY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DEIPWY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DEIPWY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DEMSHA Noonan syndrome LD2F.15 Orphanet 648 TPD-DEMSHA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DEMSHA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DEMSHA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DEMSHA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DEMSHA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DEMSHA Lynch syndrome 2B90.Y Orphanet 144 TPD-DEMSHA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DEMSHA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DENK9G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DENK9G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DENK9G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DEP7HO Kennedy disease 8B61.4 Orphanet 481 TPD-DEP7HO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DEP7HO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DEP7HO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DERDGR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DEVT28 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DEXBJ1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-DEXBJ1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DEXL0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-DEXL0Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DEXL0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DEXL0Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DEXL0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DEXL0Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DEXL0Z Lynch syndrome 2B90.Y Orphanet 144 TPD-DEXL0Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DEXL0Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DEZ3CV Kennedy disease 8B61.4 Orphanet 481 TPD-DEZ3CV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DEZ3CV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DEZ3CV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DEZWUQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DEZWUQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DEZZV3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DF071W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DF0NP7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DF0NP7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DF0NP7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DF21MT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DF21MT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DF21MT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DF22RL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DF22RL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DF22RL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DF28NX Kennedy disease 8B61.4 Orphanet 481 TPD-DF28NX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DF28NX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DF28NX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DF2N5D Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-DF2N5D CINCA syndrome 4A60.1 Orphanet 1451 TPD-DF2N5D Familial cold urticaria 4A60.1 Orphanet 47045 TPD-DF48JP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DF48JP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DF4UEU Kennedy disease 8B61.4 Orphanet 481 TPD-DF4UEU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DF4UEU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DF4UEU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DF6F8F Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-DF6F8F Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-DF6JT3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DF6JT3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DF6JT3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DF6JT3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DF7H8J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DF7H8J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DF8QQ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DF8QQ9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DF8QQ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DFA5SH Kennedy disease 8B61.4 Orphanet 481 TPD-DFA5SH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DFA5SH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DFA5SH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DFB10G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DFB10G Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DFB10G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DFB15K Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DFB15K Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DFD1QK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DFD7XZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DFD7XZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DFFN7M Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DFIE00 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DFLSDY Noonan syndrome LD2F.15 Orphanet 648 TPD-DFLSDY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DFLSDY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DFLSDY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DFLSDY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DFLSDY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DFLSDY Lynch syndrome 2B90.Y Orphanet 144 TPD-DFLSDY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DFLSDY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DFP7LI Weaver syndrome LD2C Orphanet 3447 TPD-DFPT5G Kennedy disease 8B61.4 Orphanet 481 TPD-DFPT5G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DFPT5G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DFPT5G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DFQJLN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DFTQOY Noonan syndrome LD2F.15 Orphanet 648 TPD-DFTQOY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DFTQOY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DFTQOY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DFTQOY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DFTQOY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DFTQOY Lynch syndrome 2B90.Y Orphanet 144 TPD-DFTQOY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DFTQOY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DG3YB1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DG3YB1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DG9TEF Familial melanoma QC61.Y Orphanet 618 TPD-DG9TEF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DGAFVD Kennedy disease 8B61.4 Orphanet 481 TPD-DGAFVD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DGAFVD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DGAFVD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DGAOW7 Noonan syndrome LD2F.15 Orphanet 648 TPD-DGAOW7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DGAOW7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DGAOW7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DGAOW7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DGAOW7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DGAOW7 Lynch syndrome 2B90.Y Orphanet 144 TPD-DGAOW7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DGAOW7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DGC0CO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DGC0CO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DGC0CO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DGK6M9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DGK6M9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DGK6M9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DGK6M9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DGL70I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DGQ8SR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DGQ8SR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DGQSTR Kennedy disease 8B61.4 Orphanet 481 TPD-DGQSTR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DGQSTR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DGQSTR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DGWKLG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DGWKLG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DGWKLG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DGWKLG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DGXS4U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DGZSLH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DH3VI6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DH3VI6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DH3VI6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DH3VI6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DH7YNX Noonan syndrome LD2F.15 Orphanet 648 TPD-DH7YNX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DH7YNX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DH7YNX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DH7YNX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DH7YNX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DH7YNX Lynch syndrome 2B90.Y Orphanet 144 TPD-DH7YNX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DH7YNX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DH8W1K Kennedy disease 8B61.4 Orphanet 481 TPD-DH8W1K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DH8W1K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DH8W1K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DH9YI7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DH9YI7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DHC7XV Noonan syndrome LD2F.15 Orphanet 648 TPD-DHC7XV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DHC7XV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DHC7XV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DHC7XV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DHC7XV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DHC7XV Lynch syndrome 2B90.Y Orphanet 144 TPD-DHC7XV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DHC7XV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DHC957 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DHC957 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DHC957 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DHC957 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DHHATX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DHHATX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DHNIZK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DHNXDV Familial melanoma QC61.Y Orphanet 618 TPD-DHNXDV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DHP1PL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DHQGJQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DHQGJQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DHQGJQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DHQGJQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DHR8CZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DHR8CZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DHR8CZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DHR8CZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DHR8CZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DHR8CZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DHR8CZ Semantic dementia 6D83 Orphanet 100069 TPD-DHR8CZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DHS47C Noonan syndrome LD2F.15 Orphanet 648 TPD-DHS47C Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-DHSFYR Kennedy disease 8B61.4 Orphanet 481 TPD-DHSFYR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DHSFYR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DHSFYR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DHWH3C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DHWJUT Noonan syndrome LD2F.15 Orphanet 648 TPD-DHWJUT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DHWJUT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DHWJUT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DHWJUT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DHWJUT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DHWJUT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DHWJUT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DHWJUT Craniopharyngioma 2F9A Orphanet 54595 TPD-DHWJUT Cushing disease 5A70.0 Orphanet 96253 TPD-DI5RK9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DI5RK9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DI5RK9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DI6CID Kennedy disease 8B61.4 Orphanet 481 TPD-DI6CID Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DI6CID Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DI6CID Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DIC546 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DICETB Kennedy disease 8B61.4 Orphanet 481 TPD-DICETB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DICETB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DICETB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DIDCNN Noonan syndrome LD2F.15 Orphanet 648 TPD-DIDCNN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DIDCNN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DIDCNN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DIDCNN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DIDCNN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DIDCNN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DIDCNN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DIDCNN Craniopharyngioma 2F9A Orphanet 54595 TPD-DIDCNN Cushing disease 5A70.0 Orphanet 96253 TPD-DIGHKA Kennedy disease 8B61.4 Orphanet 481 TPD-DIGHKA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DIGHKA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DIGHKA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DII5OI Noonan syndrome LD2F.15 Orphanet 648 TPD-DII5OI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DII5OI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DII5OI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DII5OI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DII5OI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DII5OI Lynch syndrome 2B90.Y Orphanet 144 TPD-DII5OI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DII5OI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DIKB2R Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-DIQUZH Noonan syndrome LD2F.15 Orphanet 648 TPD-DIQUZH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DIQUZH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DIQUZH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DIQUZH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DIQUZH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DIQUZH Lynch syndrome 2B90.Y Orphanet 144 TPD-DIQUZH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DIQUZH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DIQXGJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DISA93 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DISA93 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DISA93 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DIT1PR Noonan syndrome LD2F.15 Orphanet 648 TPD-DIT1PR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DIT1PR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DIT1PR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DIT1PR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DIT1PR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DIT1PR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DIT1PR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DIT1PR Craniopharyngioma 2F9A Orphanet 54595 TPD-DIT1PR Cushing disease 5A70.0 Orphanet 96253 TPD-DIU67Q Noonan syndrome LD2F.15 Orphanet 648 TPD-DIU67Q Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DIU67Q Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DIU67Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DIU67Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DIU67Q Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DIU67Q Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DIU67Q Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DIU67Q Craniopharyngioma 2F9A Orphanet 54595 TPD-DIU67Q Cushing disease 5A70.0 Orphanet 96253 TPD-DIUVTA Noonan syndrome LD2F.15 Orphanet 648 TPD-DIUVTA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DIUVTA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DIUVTA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DIUVTA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DIUVTA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DIUVTA Lynch syndrome 2B90.Y Orphanet 144 TPD-DIUVTA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DIUVTA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DIVFD4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DIX5EX Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DIX5EX Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DJ1JIB Kennedy disease 8B61.4 Orphanet 481 TPD-DJ1JIB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DJ1JIB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DJ1JIB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DJ2C51 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DJ5JN1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DJ8366 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DJ8366 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DJ8366 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DJIAUJ Noonan syndrome LD2F.15 Orphanet 648 TPD-DJIAUJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DJIAUJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DJIAUJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DJIAUJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DJIAUJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DJIAUJ Lynch syndrome 2B90.Y Orphanet 144 TPD-DJIAUJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DJIAUJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DJILN0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DJJE4J Kennedy disease 8B61.4 Orphanet 481 TPD-DJJE4J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DJJE4J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DJJE4J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DJKXMF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DJKXMF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DJKXMF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DJKXMF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DJLVIN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DJLVIN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DJLVIN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DJSHL6 Noonan syndrome LD2F.15 Orphanet 648 TPD-DJSHL6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DJSHL6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DJSHL6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DJSHL6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DJSHL6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DJSHL6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DJSHL6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DJSHL6 Craniopharyngioma 2F9A Orphanet 54595 TPD-DJSHL6 Cushing disease 5A70.0 Orphanet 96253 TPD-DJVQCN Noonan syndrome LD2F.15 Orphanet 648 TPD-DJVQCN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DJVQCN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DJVQCN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DJVQCN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DJVQCN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DJVQCN Lynch syndrome 2B90.Y Orphanet 144 TPD-DJVQCN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DJVQCN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DJVS8U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DJVS8U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DJW9GA Noonan syndrome LD2F.15 Orphanet 648 TPD-DJW9GA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DJW9GA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DJW9GA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DJW9GA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DJW9GA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DJW9GA Lynch syndrome 2B90.Y Orphanet 144 TPD-DJW9GA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DJW9GA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DJXHD3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DJXHD3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DJXHD3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DK16EI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-DK5O7K Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-DK9RO1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DK9RO1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DKF9CD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DKF9CD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DKG0QH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DKG0QH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DKG85I Kennedy disease 8B61.4 Orphanet 481 TPD-DKG85I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DKG85I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DKG85I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DKGORZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DKJ4PJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DKJ4PJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DKJ4PJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DKJ4PJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DKLW1W Kennedy disease 8B61.4 Orphanet 481 TPD-DKLW1W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DKLW1W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DKLW1W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DKNBED Weaver syndrome LD2C Orphanet 3447 TPD-DKO6OG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DKO6OG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DKQQVL Familial melanoma QC61.Y Orphanet 618 TPD-DKQQVL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DKV4EK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DKVMXS Kennedy disease 8B61.4 Orphanet 481 TPD-DKVMXS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DKVMXS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DKVMXS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DKYNOG Noonan syndrome LD2F.15 Orphanet 648 TPD-DKYNOG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DKYNOG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DKYNOG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DKYNOG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DKYNOG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DKYNOG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DKYNOG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DKYNOG Craniopharyngioma 2F9A Orphanet 54595 TPD-DKYNOG Cushing disease 5A70.0 Orphanet 96253 TPD-DL107W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DL157I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DL157I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DL157I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DL1VIT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DL1VIT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DL2X8T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DL3MTU Kennedy disease 8B61.4 Orphanet 481 TPD-DL3MTU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DL3MTU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DL3MTU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DL8WHK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DL8WHK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DL8WHK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DL8ZCQ Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-DL8ZCQ Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-DL8ZCQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DL8ZCQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DL8ZCQ Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-DL8ZCQ Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-DLF7X0 Familial melanoma QC61.Y Orphanet 618 TPD-DLF7X0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DLIXU6 Kennedy disease 8B61.4 Orphanet 481 TPD-DLIXU6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DLIXU6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DLIXU6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DLPQKP X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-DLQ2UU Familial melanoma QC61.Y Orphanet 618 TPD-DLQ2UU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DLT0T4 Noonan syndrome LD2F.15 Orphanet 648 TPD-DLT0T4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DLT0T4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DLT0T4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DLT0T4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DLT0T4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DLT0T4 Lynch syndrome 2B90.Y Orphanet 144 TPD-DLT0T4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DLT0T4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DLT37G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DLT37G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DLUAU1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-DLV4ML Kennedy disease 8B61.4 Orphanet 481 TPD-DLV4ML Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DLV4ML Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DLV4ML Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DLW0G4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DLWSET X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DLWSET Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DLZLIN Familial melanoma QC61.Y Orphanet 618 TPD-DLZLIN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DM1J6Z CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DM2IOO Burkitt lymphoma XH4KA9 Orphanet 543 TPD-DM2IOO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DM3PPT Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-DM3PPT Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-DM6ODD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DM6ODD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DM6ODD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DM6ODD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DMC8YK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DMC8YK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DMC8YK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DMCZO0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DMCZO0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DME2R0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DMECA9 Noonan syndrome LD2F.15 Orphanet 648 TPD-DMECA9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DMECA9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DMECA9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DMECA9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DMECA9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DMECA9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DMECA9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DMECA9 Craniopharyngioma 2F9A Orphanet 54595 TPD-DMECA9 Cushing disease 5A70.0 Orphanet 96253 TPD-DMIG9U Noonan syndrome LD2F.15 Orphanet 648 TPD-DMIG9U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DMIG9U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DMIG9U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DMIG9U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DMIG9U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DMIG9U Lynch syndrome 2B90.Y Orphanet 144 TPD-DMIG9U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DMIG9U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DMJEQN Familial melanoma QC61.Y Orphanet 618 TPD-DMJEQN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DMJN9K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DMJN9K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DMJN9K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DML84Q Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DML84Q Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DMLSXG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DMO7SH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DMQFPD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DMQFPD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DMRS6J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DMRS6J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DMRS6J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DMRTC8 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DMRTC8 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DMT53O Kennedy disease 8B61.4 Orphanet 481 TPD-DMT53O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DMT53O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DMT53O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DMY451 Familial melanoma QC61.Y Orphanet 618 TPD-DMY451 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DN269C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DN269C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DN269C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DN2TF2 Kennedy disease 8B61.4 Orphanet 481 TPD-DN2TF2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DN2TF2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DN2TF2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DN3JS7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DN3JS7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DN3JS7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DN41XY Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-DN9JKX Familial melanoma QC61.Y Orphanet 618 TPD-DN9JKX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DNBJJ4 Kennedy disease 8B61.4 Orphanet 481 TPD-DNBJJ4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DNBJJ4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DNBJJ4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DNBQM5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DNBQM5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DNGABY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DNGABY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DNGABY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DNGABY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DNH2LR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DNH2LR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DNH2LR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DNH2LR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DNI5Y3 Familial melanoma QC61.Y Orphanet 618 TPD-DNI5Y3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DNJMG7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DNO862 Noonan syndrome LD2F.15 Orphanet 648 TPD-DNO862 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DNO862 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DNO862 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DNO862 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DNO862 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DNO862 Lynch syndrome 2B90.Y Orphanet 144 TPD-DNO862 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DNO862 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DNRCEO Kennedy disease 8B61.4 Orphanet 481 TPD-DNRCEO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DNRCEO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DNRCEO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DNSYE4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DNSYE4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DNTWNO Familial melanoma QC61.Y Orphanet 618 TPD-DNTWNO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DO0EES Noonan syndrome LD2F.15 Orphanet 648 TPD-DO0EES Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DO0EES Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DO0EES Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DO0EES Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DO0EES Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DO0EES Lynch syndrome 2B90.Y Orphanet 144 TPD-DO0EES Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DO0EES Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DO0EK7 Noonan syndrome LD2F.15 Orphanet 648 TPD-DO0EK7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DO0EK7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DO0EK7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DO0EK7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DO0EK7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DO0EK7 Lynch syndrome 2B90.Y Orphanet 144 TPD-DO0EK7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DO0EK7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DO0K7F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DO0K7F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DO0K7F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DO0K7F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DO0K7F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DO0K7F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DO0K7F Semantic dementia 6D83 Orphanet 100069 TPD-DO0K7F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DO2XW6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DO4JWN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DO4JWN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DO4JWN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DO7NN7 Kennedy disease 8B61.4 Orphanet 481 TPD-DO7NN7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DO7NN7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DO7NN7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DO7ZCP Noonan syndrome LD2F.15 Orphanet 648 TPD-DO7ZCP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DO7ZCP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DO7ZCP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DO7ZCP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DO7ZCP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DO7ZCP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DO7ZCP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DO7ZCP Craniopharyngioma 2F9A Orphanet 54595 TPD-DO7ZCP Cushing disease 5A70.0 Orphanet 96253 TPD-DO829B Weaver syndrome LD2C Orphanet 3447 TPD-DOAG8G Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-DOAG8G Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-DOAG8G Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-DOAG8G Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-DOAG8G Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-DOAG8G Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-DOAG8G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DOAG8G Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-DOAG8G Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DOAJIQ Kennedy disease 8B61.4 Orphanet 481 TPD-DOAJIQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DOAJIQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DOAJIQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DOB6MF Familial melanoma QC61.Y Orphanet 618 TPD-DOB6MF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DODCBF Familial melanoma QC61.Y Orphanet 618 TPD-DODCBF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DODFLM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DODFLM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DODFLM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DOEGT7 Kennedy disease 8B61.4 Orphanet 481 TPD-DOEGT7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DOEGT7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DOEGT7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DOGJ1O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DOGJ1O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DOGJ1O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DOGJ1O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DOIM7X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DOIM7X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DOQ6RG Kennedy disease 8B61.4 Orphanet 481 TPD-DOQ6RG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DOQ6RG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DOQ6RG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DOT3DO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DOT6M2 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-DOUHJ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DOWCH6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DOWCH6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DP7VJ0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DPBY0U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DPFGQX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DPFGZD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DPFGZD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DPIYL8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DPIYL8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DPMWAY Familial melanoma QC61.Y Orphanet 618 TPD-DPMWAY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DPQ82D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DPR3NZ Kennedy disease 8B61.4 Orphanet 481 TPD-DPR3NZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DPR3NZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DPR3NZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DPSMCP Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-DPSU4K Kennedy disease 8B61.4 Orphanet 481 TPD-DPSU4K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DPSU4K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DPSU4K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DPUEHC Familial melanoma QC61.Y Orphanet 618 TPD-DPUEHC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DPWB9M Noonan syndrome LD2F.15 Orphanet 648 TPD-DPWB9M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DPWB9M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DPWB9M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DPWB9M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DPWB9M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DPWB9M Lynch syndrome 2B90.Y Orphanet 144 TPD-DPWB9M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DPWB9M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DPXOQR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-DPXOQR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-DPY0Q6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DPY0Q6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DPY0Q6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DQ2PB7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DQ4MR1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DQ4MR1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DQ6V3D Burkitt lymphoma XH4KA9 Orphanet 543 TPD-DQ6V3D Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DQ6V3D Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-DQF5BH Noonan syndrome LD2F.15 Orphanet 648 TPD-DQF5BH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DQF5BH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DQF5BH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DQF5BH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DQF5BH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DQF5BH Lynch syndrome 2B90.Y Orphanet 144 TPD-DQF5BH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DQF5BH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DQGVIH Kennedy disease 8B61.4 Orphanet 481 TPD-DQGVIH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DQGVIH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DQGVIH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DQHLZ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-DQHLZ9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DQHLZ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DQHLZ9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DQHLZ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DQHLZ9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DQHLZ9 Lynch syndrome 2B90.Y Orphanet 144 TPD-DQHLZ9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DQHLZ9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DQHVUV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DQIG80 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DQIG80 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DQJL5Z Noonan syndrome LD2F.15 Orphanet 648 TPD-DQJL5Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DQJL5Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DQJL5Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DQJL5Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DQJL5Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DQJL5Z Lynch syndrome 2B90.Y Orphanet 144 TPD-DQJL5Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DQJL5Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DQJVHM Noonan syndrome LD2F.15 Orphanet 648 TPD-DQJVHM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DQJVHM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DQJVHM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DQJVHM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DQJVHM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DQJVHM Lynch syndrome 2B90.Y Orphanet 144 TPD-DQJVHM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DQJVHM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DQRME7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DQRME7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DQRME7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DQTZ66 Kennedy disease 8B61.4 Orphanet 481 TPD-DQTZ66 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DQTZ66 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DQTZ66 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DQUNFF Weaver syndrome LD2C Orphanet 3447 TPD-DQWMK8 Kennedy disease 8B61.4 Orphanet 481 TPD-DQWMK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DQWMK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DQWMK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DQYEH3 Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-DQYEH3 Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-DQYEH3 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-DQYEH3 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-DQZEWZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-DQZEWZ Wilson-Turner syndrome LD29 Orphanet 3459 TPD-DRA1NJ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-DRA1NJ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DRCRPR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DRD3TA Kennedy disease 8B61.4 Orphanet 481 TPD-DRD3TA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DRD3TA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DRD3TA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DRIJMQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DRIJMQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DRIJMQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DRJ2IU Noonan syndrome LD2F.15 Orphanet 648 TPD-DRJ2IU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DRJ2IU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DRJ2IU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DRJ2IU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DRJ2IU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DRJ2IU Lynch syndrome 2B90.Y Orphanet 144 TPD-DRJ2IU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DRJ2IU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DRJBCZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DRTSW0 Kennedy disease 8B61.4 Orphanet 481 TPD-DRTSW0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DRTSW0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DRTSW0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DRUUO3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DRV2KB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DRV2KB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DS1BKI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DS7Z8O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DS7Z8O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DS7Z8O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DS8Z49 Noonan syndrome LD2F.15 Orphanet 648 TPD-DS8Z49 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DS8Z49 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DS8Z49 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DS8Z49 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DS8Z49 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DS8Z49 Lynch syndrome 2B90.Y Orphanet 144 TPD-DS8Z49 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DS8Z49 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DSETOW Kennedy disease 8B61.4 Orphanet 481 TPD-DSETOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DSETOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DSETOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DSFRUG Noonan syndrome LD2F.15 Orphanet 648 TPD-DSFRUG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DSFRUG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DSFRUG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DSFRUG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DSFRUG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DSFRUG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DSFRUG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DSFRUG Craniopharyngioma 2F9A Orphanet 54595 TPD-DSFRUG Cushing disease 5A70.0 Orphanet 96253 TPD-DSFSQJ Weaver syndrome LD2C Orphanet 3447 TPD-DSHR21 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-DSJ2QC Familial melanoma QC61.Y Orphanet 618 TPD-DSJ2QC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DSJ6G5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-DSKNAZ Noonan syndrome LD2F.15 Orphanet 648 TPD-DSKNAZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DSKNAZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DSKNAZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DSKNAZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DSKNAZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DSKNAZ Lynch syndrome 2B90.Y Orphanet 144 TPD-DSKNAZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DSKNAZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DSLZDA Kennedy disease 8B61.4 Orphanet 481 TPD-DSLZDA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DSLZDA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DSLZDA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DSNQYW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DSNQYW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DSNQYW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DSQ5TJ Kennedy disease 8B61.4 Orphanet 481 TPD-DSQ5TJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DSQ5TJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DSQ5TJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DSRSLP Noonan syndrome LD2F.15 Orphanet 648 TPD-DSRSLP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DSRSLP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DSRSLP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DSRSLP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DSRSLP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DSRSLP Lynch syndrome 2B90.Y Orphanet 144 TPD-DSRSLP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DSRSLP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DSSYWE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DSSYWE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DSUJ5W Kennedy disease 8B61.4 Orphanet 481 TPD-DSUJ5W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DSUJ5W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DSUJ5W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DSVPLC Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DSVPLC Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DSVPLC Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DSVPLC Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DSVPLC Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DSVPLC Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DSVPLC Semantic dementia 6D83 Orphanet 100069 TPD-DSVPLC Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DT2OFM Noonan syndrome LD2F.15 Orphanet 648 TPD-DT2OFM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DT2OFM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DT2OFM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DT2OFM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DT2OFM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DT2OFM Lynch syndrome 2B90.Y Orphanet 144 TPD-DT2OFM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DT2OFM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DT5SGZ Kennedy disease 8B61.4 Orphanet 481 TPD-DT5SGZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DT5SGZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DT5SGZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DT6ZXF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DT6ZXF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DT6ZXF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DT6ZXF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DT8PDL Kennedy disease 8B61.4 Orphanet 481 TPD-DT8PDL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DT8PDL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DT8PDL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DTD9YP Noonan syndrome LD2F.15 Orphanet 648 TPD-DTD9YP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DTD9YP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DTD9YP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DTD9YP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DTD9YP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DTD9YP Lynch syndrome 2B90.Y Orphanet 144 TPD-DTD9YP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DTD9YP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DTKCB0 Kennedy disease 8B61.4 Orphanet 481 TPD-DTKCB0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DTKCB0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DTKCB0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DTNEP2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DTNEP2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DTNEP2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DTTRY1 Noonan syndrome LD2F.15 Orphanet 648 TPD-DTTRY1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DTTRY1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DTTRY1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DTTRY1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DTTRY1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DTTRY1 Lynch syndrome 2B90.Y Orphanet 144 TPD-DTTRY1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DTTRY1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DTVAMU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DTVAMU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DTVAMU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DTVDA8 Noonan syndrome LD2F.15 Orphanet 648 TPD-DTVDA8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DTVDA8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DTVDA8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DTVDA8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DTVDA8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DTVDA8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DTVDA8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DTVDA8 Craniopharyngioma 2F9A Orphanet 54595 TPD-DTVDA8 Cushing disease 5A70.0 Orphanet 96253 TPD-DTWDMT Noonan syndrome LD2F.15 Orphanet 648 TPD-DTWDMT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DTWDMT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DTWDMT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DTWDMT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DTWDMT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DTWDMT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DTWDMT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DTWDMT Craniopharyngioma 2F9A Orphanet 54595 TPD-DTWDMT Cushing disease 5A70.0 Orphanet 96253 TPD-DUBIFI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DUBIFI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DUBIFI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DUHUQH Noonan syndrome LD2F.15 Orphanet 648 TPD-DUHUQH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DUHUQH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DUHUQH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DUHUQH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DUHUQH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DUHUQH Lynch syndrome 2B90.Y Orphanet 144 TPD-DUHUQH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DUHUQH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DUJA1L Kennedy disease 8B61.4 Orphanet 481 TPD-DUJA1L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DUJA1L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DUJA1L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DUK14W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DUK14W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-DUKJ6J Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-DUKMRZ Familial melanoma QC61.Y Orphanet 618 TPD-DUKMRZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DULHCD Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-DULHCD Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-DULHCD Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-DULHCD Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-DULHCD Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-DULHCD Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-DULHCD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DULHCD Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-DULHCD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DULKUD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DUQC0Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DUQC0Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DUQC0Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DUQRBZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DUSXTT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DUSYPM Noonan syndrome LD2F.15 Orphanet 648 TPD-DUSYPM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DUSYPM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DUSYPM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DUSYPM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DUSYPM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DUSYPM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DUSYPM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DUSYPM Craniopharyngioma 2F9A Orphanet 54595 TPD-DUSYPM Cushing disease 5A70.0 Orphanet 96253 TPD-DUTBDO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DUTBDO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DUTBDO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DUTBDO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DUZTIF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DV5IXB Noonan syndrome LD2F.15 Orphanet 648 TPD-DV5IXB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DV5IXB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DV5IXB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DV5IXB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DV5IXB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DV5IXB Lynch syndrome 2B90.Y Orphanet 144 TPD-DV5IXB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DV5IXB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DV9JCI Kennedy disease 8B61.4 Orphanet 481 TPD-DV9JCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DV9JCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DV9JCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DVBLJ4 Familial melanoma QC61.Y Orphanet 618 TPD-DVBLJ4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DVDIZA Familial melanoma QC61.Y Orphanet 618 TPD-DVDIZA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DVEAU9 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-DVEOC6 Kennedy disease 8B61.4 Orphanet 481 TPD-DVEOC6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DVEOC6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DVEOC6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DVG153 Noonan syndrome LD2F.15 Orphanet 648 TPD-DVG153 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DVG153 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DVG153 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DVG153 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DVG153 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DVG153 Lynch syndrome 2B90.Y Orphanet 144 TPD-DVG153 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DVG153 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DVHLE6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DVHLE6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DVI2YE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DVI2YE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DVI2YE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DVI2YE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DVIL0V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DVIL0V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DVK1VI Noonan syndrome LD2F.15 Orphanet 648 TPD-DVK1VI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DVK1VI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DVK1VI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DVK1VI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DVK1VI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DVK1VI Lynch syndrome 2B90.Y Orphanet 144 TPD-DVK1VI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DVK1VI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DVQK0K Kennedy disease 8B61.4 Orphanet 481 TPD-DVQK0K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DVQK0K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DVQK0K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DVRYBI Kennedy disease 8B61.4 Orphanet 481 TPD-DVRYBI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DVRYBI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DVRYBI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DVSYFQ Noonan syndrome LD2F.15 Orphanet 648 TPD-DVSYFQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DVSYFQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DVSYFQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DVSYFQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DVSYFQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DVSYFQ Lynch syndrome 2B90.Y Orphanet 144 TPD-DVSYFQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DVSYFQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DVYN93 Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-DVYN93 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DVYN93 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-DVYN93 Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-DVYN93 AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-DVYN93 Hemimegalencephaly LA05.1 Orphanet 99802 TPD-DVYN93 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-DVYN93 MODY 5A13.6 Orphanet 552 TPD-DVYN93 Hereditary mixed polyposis syndrome 2E92.40 Orphanet 157794 TPD-DVYN93 Generalized juvenile polyposis/juvenile polyposis coli 2B90.Y Orphanet 329971 TPD-DVYN93 Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-DVYN93 Juvenile polyposis of infancy 2B90.Y Orphanet 79076 TPD-DVYN93 Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-DVYN93 Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-DVYN93 Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-DVYN93 Familial prostate cancer 2C82.Y Orphanet 1331 TPD-DVYN93 Vein of Galen aneurysmal malformation LA90.20 Orphanet 1053 TPD-DVYN93 Meige disease BD93.0 Orphanet 90186 TPD-DVYN93 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-DVYN93 Williams syndrome LD44.70 Orphanet 904 TPD-DVYN93 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-DVYN93 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-DVYN93 Retinitis pigmentosa 9B70 Orphanet 791 TPD-DVYN93 Seckel syndrome LD24.D Orphanet 808 TPD-DVYN93 Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-DVYN93 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-DVYN93 Marfan syndrome type 2 LD28.01 Orphanet 284973 TPD-DVYN93 Multiple self-healing squamous epithelioma 2C31.1 Orphanet 65748 TPD-DVYN93 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-DVYN93 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-DVYN93 Autosomal dominant macrothrombocytopenia 3B62.01 Orphanet 140957 TPD-DVYN93 Parkinson-dementia complex of Guam 6D85.Y Orphanet 90020 TPD-DVYYV2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DVYYV2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DVZUVT Kennedy disease 8B61.4 Orphanet 481 TPD-DVZUVT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DVZUVT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DVZUVT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DVZYDA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-DW31Q4 Noonan syndrome LD2F.15 Orphanet 648 TPD-DW31Q4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DW31Q4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DW31Q4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DW31Q4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DW31Q4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DW31Q4 Lynch syndrome 2B90.Y Orphanet 144 TPD-DW31Q4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DW31Q4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DWAYZW Familial melanoma QC61.Y Orphanet 618 TPD-DWAYZW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DWG7OX Familial melanoma QC61.Y Orphanet 618 TPD-DWG7OX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DWH235 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DWQEWC Familial melanoma QC61.Y Orphanet 618 TPD-DWQEWC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DWSPD9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DWSPD9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DWSPD9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DWSPD9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DWSPD9 Neuroblastoma 2A00.11 Orphanet 635 TPD-DWSPD9 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-DWSPD9 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-DWSPD9 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-DWSPD9 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-DWTDKE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DWWIT2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DWWIT2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DWWORM Kennedy disease 8B61.4 Orphanet 481 TPD-DWWORM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DWWORM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DWWORM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DWWUB6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DWWUB6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DWWUB6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DWY2O1 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-DX0XP2 Kennedy disease 8B61.4 Orphanet 481 TPD-DX0XP2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DX0XP2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DX0XP2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DX4W8O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DX6UEB Familial melanoma QC61.Y Orphanet 618 TPD-DX6WUZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DX6WUZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DX9TXY Kennedy disease 8B61.4 Orphanet 481 TPD-DX9TXY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DX9TXY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DX9TXY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXC7TN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DXC7TN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DXC7TN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DXDMVO Kennedy disease 8B61.4 Orphanet 481 TPD-DXDMVO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DXDMVO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DXDMVO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXI1C9 Kennedy disease 8B61.4 Orphanet 481 TPD-DXI1C9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DXI1C9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DXI1C9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXJXQ9 Kennedy disease 8B61.4 Orphanet 481 TPD-DXJXQ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DXJXQ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DXJXQ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXJYNW Kennedy disease 8B61.4 Orphanet 481 TPD-DXJYNW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DXJYNW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DXJYNW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXKP1A Achondroplasia LD24.00 Orphanet 15 TPD-DXKP1A Hypochondroplasia LD24.01 Orphanet 429 TPD-DXKP1A Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-DXKP1A Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-DXKP1A Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-DXKP1A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DXKP1A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DXKP1A Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-DXKP1A Muenke syndrome LD24.GY Orphanet 53271 TPD-DXKP1A Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-DXKP1A Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-DXKP1A Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-DXPJEE Kennedy disease 8B61.4 Orphanet 481 TPD-DXPJEE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DXPJEE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DXPJEE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DXU67G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DXUA5E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DXX0VK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DY02DE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DY02DE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DY02DE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DY0VMI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DY6I25 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-DY9OQS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-DY9OQS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-DY9OQS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-DY9OQS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-DYA594 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DYAG9M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DYD6RB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DYD6RB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DYD6RB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DYD6RB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DYD6RB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DYD6RB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DYD6RB Semantic dementia 6D83 Orphanet 100069 TPD-DYD6RB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DYENBY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DYENBY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DYENBY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-DYHIBR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-DYHIBR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-DYHIBR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-DYHOW4 Kennedy disease 8B61.4 Orphanet 481 TPD-DYHOW4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DYHOW4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DYHOW4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DYLSVJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DYNH6Q Noonan syndrome LD2F.15 Orphanet 648 TPD-DYNH6Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DYNH6Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DYNH6Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DYNH6Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DYNH6Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DYNH6Q Lynch syndrome 2B90.Y Orphanet 144 TPD-DYNH6Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DYNH6Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DYPC94 Kennedy disease 8B61.4 Orphanet 481 TPD-DYPC94 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DYPC94 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DYPC94 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DYSPUB Kennedy disease 8B61.4 Orphanet 481 TPD-DYSPUB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DYSPUB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DYSPUB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DYWPW3 Familial melanoma QC61.Y Orphanet 618 TPD-DYWPW3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-DYXCPP Kennedy disease 8B61.4 Orphanet 481 TPD-DYXCPP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DYXCPP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DYXCPP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DYXHF2 Noonan syndrome LD2F.15 Orphanet 648 TPD-DYXHF2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DYXHF2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DYXHF2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DYXHF2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DYXHF2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DYXHF2 Lynch syndrome 2B90.Y Orphanet 144 TPD-DYXHF2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DYXHF2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DZ014S Noonan syndrome LD2F.15 Orphanet 648 TPD-DZ014S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-DZ014S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DZ014S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-DZ014S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DZ014S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-DZ014S Lynch syndrome 2B90.Y Orphanet 144 TPD-DZ014S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-DZ014S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-DZ1NBE Kennedy disease 8B61.4 Orphanet 481 TPD-DZ1NBE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DZ1NBE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DZ1NBE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DZ20WE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DZ20WE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DZ3J4Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-DZ4HIW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-DZ72HH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DZ72HH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DZ72HH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DZ72HH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DZ72HH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DZ72HH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DZ72HH Semantic dementia 6D83 Orphanet 100069 TPD-DZ72HH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DZHZ3O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DZIES3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DZIR08 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DZIR08 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DZIR08 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DZIR08 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DZIR08 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DZIR08 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DZIR08 Semantic dementia 6D83 Orphanet 100069 TPD-DZIR08 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DZJUAV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-DZSWCV Kennedy disease 8B61.4 Orphanet 481 TPD-DZSWCV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-DZSWCV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-DZSWCV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-DZTTWF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-DZTTWF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-DZUWSI Noonan syndrome LD2F.15 Orphanet 648 TPD-DZUWSI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-DZUWSI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-DZUWSI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-DZUWSI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-DZUWSI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-DZUWSI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-DZUWSI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-DZUWSI Craniopharyngioma 2F9A Orphanet 54595 TPD-DZUWSI Cushing disease 5A70.0 Orphanet 96253 TPD-DZV232 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-DZZG26 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-DZZG26 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-DZZG26 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E071S5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E0DKXC Kennedy disease 8B61.4 Orphanet 481 TPD-E0DKXC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E0DKXC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E0DKXC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E0EHUD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E0EHUD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E0EHUD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E0HCGR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E0HCGR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E0O87B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E0O87B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E0OC4M Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E0P40P Kennedy disease 8B61.4 Orphanet 481 TPD-E0P40P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E0P40P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E0P40P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E0RZMI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E0T6C4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E0T6C4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E0VORB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E0VORB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E0ZKZ8 Noonan syndrome LD2F.15 Orphanet 648 TPD-E0ZKZ8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E0ZKZ8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E0ZKZ8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E0ZKZ8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E0ZKZ8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E0ZKZ8 Lynch syndrome 2B90.Y Orphanet 144 TPD-E0ZKZ8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E0ZKZ8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E10WRM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E10WRM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E10WRM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E12ZI9 Kennedy disease 8B61.4 Orphanet 481 TPD-E12ZI9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E12ZI9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E12ZI9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E1308E Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-E16NFL Noonan syndrome LD2F.15 Orphanet 648 TPD-E16NFL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-E16NFL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-E16NFL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E16NFL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E16NFL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-E16NFL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-E16NFL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-E16NFL Craniopharyngioma 2F9A Orphanet 54595 TPD-E16NFL Cushing disease 5A70.0 Orphanet 96253 TPD-E19Y1C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E19Y1C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E19Y1C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E19Y1C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E1I2EO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E1I2EO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E1I2EO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E1I2EO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E1IB0C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E1IB0C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E1IB0C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E1IVF5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E1IVF5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E1IVF5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E1IVF5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E1N1S7 Kennedy disease 8B61.4 Orphanet 481 TPD-E1N1S7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E1N1S7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E1N1S7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E1QCWJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E1QCWJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E1RZ7T Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-E1RZ7T Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-E1SZQQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E1SZQQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E1SZQQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E1TEHT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E1TGBB Kennedy disease 8B61.4 Orphanet 481 TPD-E1TGBB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E1TGBB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E1TGBB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E1TLSX Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-E21Y9G Familial melanoma QC61.Y Orphanet 618 TPD-E21Y9G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E22O63 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E22O63 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E22O63 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E24FNK Noonan syndrome LD2F.15 Orphanet 648 TPD-E24FNK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E24FNK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E24FNK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E24FNK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E24FNK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E24FNK Lynch syndrome 2B90.Y Orphanet 144 TPD-E24FNK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E24FNK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E2B5WP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-E2B5WP Neuroblastoma 2A00.11 Orphanet 635 TPD-E2B5WP Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-E2B5WP ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-E2B5WP ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-E2FDSP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E2FPRQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-E2GB6D Kennedy disease 8B61.4 Orphanet 481 TPD-E2GB6D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E2GB6D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E2GB6D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E2J6PC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E2JS40 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E2JS40 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E2KJE6 Noonan syndrome LD2F.15 Orphanet 648 TPD-E2KJE6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E2KJE6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E2KJE6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E2KJE6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E2KJE6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E2KJE6 Lynch syndrome 2B90.Y Orphanet 144 TPD-E2KJE6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E2KJE6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E2QPUP Familial melanoma QC61.Y Orphanet 618 TPD-E2QPUP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E2SOBR Noonan syndrome LD2F.15 Orphanet 648 TPD-E2SOBR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-E2SOBR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-E2SOBR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E2SOBR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E2SOBR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-E2SOBR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-E2SOBR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-E2SOBR Craniopharyngioma 2F9A Orphanet 54595 TPD-E2SOBR Cushing disease 5A70.0 Orphanet 96253 TPD-E2UAIP Noonan syndrome LD2F.15 Orphanet 648 TPD-E2UAIP Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-E2X3VB Noonan syndrome LD2F.15 Orphanet 648 TPD-E2X3VB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E2X3VB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E2X3VB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E2X3VB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E2X3VB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E2X3VB Lynch syndrome 2B90.Y Orphanet 144 TPD-E2X3VB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E2X3VB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E2Y14C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E2ZT0H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E2ZT0H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E2ZT0H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E3025Y Kennedy disease 8B61.4 Orphanet 481 TPD-E3025Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E3025Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E3025Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E30RXY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E30RXY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E3208Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E3208Z Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-E328RL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E33LY8 Noonan syndrome LD2F.15 Orphanet 648 TPD-E33LY8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E33LY8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E33LY8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E33LY8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E33LY8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E33LY8 Lynch syndrome 2B90.Y Orphanet 144 TPD-E33LY8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E33LY8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E38UPX Kennedy disease 8B61.4 Orphanet 481 TPD-E38UPX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E38UPX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E38UPX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E398TB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E398TB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E398TB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E398TB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E3AEKG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E3AEKG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E3AEKG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E3BD32 Noonan syndrome LD2F.15 Orphanet 648 TPD-E3BD32 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E3BD32 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E3BD32 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E3BD32 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E3BD32 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E3BD32 Lynch syndrome 2B90.Y Orphanet 144 TPD-E3BD32 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E3BD32 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E3BI1N Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E3BLQ3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E3G7AR Kennedy disease 8B61.4 Orphanet 481 TPD-E3G7AR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E3G7AR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E3G7AR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E3GU75 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E3KKBN Kennedy disease 8B61.4 Orphanet 481 TPD-E3KKBN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E3KKBN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E3KKBN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E3NKBU Noonan syndrome LD2F.15 Orphanet 648 TPD-E3NKBU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E3NKBU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E3NKBU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E3NKBU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E3NKBU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E3NKBU Lynch syndrome 2B90.Y Orphanet 144 TPD-E3NKBU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E3NKBU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E3QWYT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E3T5S9 Achondroplasia LD24.00 Orphanet 15 TPD-E3T5S9 Hypochondroplasia LD24.01 Orphanet 429 TPD-E3T5S9 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-E3T5S9 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-E3T5S9 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-E3T5S9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E3T5S9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E3T5S9 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-E3T5S9 Muenke syndrome LD24.GY Orphanet 53271 TPD-E3T5S9 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-E3T5S9 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-E3T5S9 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-E42UDQ Kennedy disease 8B61.4 Orphanet 481 TPD-E42UDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E42UDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E42UDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E4585B Noonan syndrome LD2F.15 Orphanet 648 TPD-E4585B Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-E47LAJ Kennedy disease 8B61.4 Orphanet 481 TPD-E47LAJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E47LAJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E47LAJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E47XO4 Noonan syndrome LD2F.15 Orphanet 648 TPD-E47XO4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E47XO4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E47XO4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E47XO4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E47XO4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E47XO4 Lynch syndrome 2B90.Y Orphanet 144 TPD-E47XO4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E47XO4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E49KWV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E49KWV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E49WVD Kennedy disease 8B61.4 Orphanet 481 TPD-E49WVD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E49WVD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E49WVD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E4AILE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E4AILE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E4EE29 Familial melanoma QC61.Y Orphanet 618 TPD-E4EE29 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E4FQ68 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E4FQ68 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E4LIZ8 Familial melanoma QC61.Y Orphanet 618 TPD-E4LIZ8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E4SNY4 Noonan syndrome LD2F.15 Orphanet 648 TPD-E4SNY4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E4SNY4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E4SNY4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E4SNY4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E4SNY4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E4SNY4 Lynch syndrome 2B90.Y Orphanet 144 TPD-E4SNY4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E4SNY4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E4TTF8 Noonan syndrome LD2F.15 Orphanet 648 TPD-E4TTF8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E4TTF8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E4TTF8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E4TTF8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E4TTF8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E4TTF8 Lynch syndrome 2B90.Y Orphanet 144 TPD-E4TTF8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E4TTF8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E4VGP7 Noonan syndrome LD2F.15 Orphanet 648 TPD-E4VGP7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E4VGP7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E4VGP7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E4VGP7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E4VGP7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E4VGP7 Lynch syndrome 2B90.Y Orphanet 144 TPD-E4VGP7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E4VGP7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E4WV5Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E4WV5Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E4WV5Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E4YFUE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E4YFUE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E4YFUE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E5301T Kennedy disease 8B61.4 Orphanet 481 TPD-E5301T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E5301T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E5301T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E530IR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E53O7E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E53O7E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E53O7E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E53O7E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E54M6E Noonan syndrome LD2F.15 Orphanet 648 TPD-E54M6E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E54M6E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E54M6E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E54M6E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E54M6E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E54M6E Lynch syndrome 2B90.Y Orphanet 144 TPD-E54M6E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E54M6E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E56EZT Familial melanoma QC61.Y Orphanet 618 TPD-E56EZT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E592Q7 Noonan syndrome LD2F.15 Orphanet 648 TPD-E592Q7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E592Q7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E592Q7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E592Q7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E592Q7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E592Q7 Lynch syndrome 2B90.Y Orphanet 144 TPD-E592Q7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E592Q7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E59IKG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E59IKG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E5AKDL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E5BTQA Noonan syndrome LD2F.15 Orphanet 648 TPD-E5BTQA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-E5BTQA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-E5BTQA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E5BTQA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E5BTQA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-E5BTQA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-E5BTQA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-E5BTQA Craniopharyngioma 2F9A Orphanet 54595 TPD-E5BTQA Cushing disease 5A70.0 Orphanet 96253 TPD-E5HSTG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E5I3KE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E5I3KE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E5I3KE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E5KVVV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E5KWUB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E5MX3F Kennedy disease 8B61.4 Orphanet 481 TPD-E5MX3F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E5MX3F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E5MX3F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E5QBVA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E5QKNE Weaver syndrome LD2C Orphanet 3447 TPD-E5R1M4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E5R1M4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E5RLZW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-E5RLZW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-E5RLZW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-E5RLZW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-E5RLZW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-E5RLZW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-E5RLZW Semantic dementia 6D83 Orphanet 100069 TPD-E5RLZW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-E5ULL5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E5UZOQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E6193G Kennedy disease 8B61.4 Orphanet 481 TPD-E6193G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6193G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6193G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E63Z0T Kennedy disease 8B61.4 Orphanet 481 TPD-E63Z0T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E63Z0T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E63Z0T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E65HMY Noonan syndrome LD2F.15 Orphanet 648 TPD-E65HMY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E65HMY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E65HMY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E65HMY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E65HMY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E65HMY Lynch syndrome 2B90.Y Orphanet 144 TPD-E65HMY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E65HMY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E67QCO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E67QCO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E67QCO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E6A1OZ Kennedy disease 8B61.4 Orphanet 481 TPD-E6A1OZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6A1OZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6A1OZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E6B6YH Noonan syndrome LD2F.15 Orphanet 648 TPD-E6B6YH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E6B6YH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E6B6YH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E6B6YH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E6B6YH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E6B6YH Lynch syndrome 2B90.Y Orphanet 144 TPD-E6B6YH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E6B6YH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E6ENE6 Kennedy disease 8B61.4 Orphanet 481 TPD-E6ENE6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6ENE6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6ENE6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E6GRXJ Kennedy disease 8B61.4 Orphanet 481 TPD-E6GRXJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6GRXJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6GRXJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E6IWGZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E6IWGZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E6IWGZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E6MPB3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E6OT3L Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E6PCJL Familial melanoma QC61.Y Orphanet 618 TPD-E6PCJL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E6QALQ Kennedy disease 8B61.4 Orphanet 481 TPD-E6QALQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6QALQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6QALQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E6R90A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E6R90A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E6R90A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E6R90A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E6S59D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E6T2MJ Burkitt lymphoma XH4KA9 Orphanet 543 TPD-E6T2MJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-E6W96M Kennedy disease 8B61.4 Orphanet 481 TPD-E6W96M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E6W96M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E6W96M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E6X0UQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-E72EI0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E72EI0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E73MX4 Noonan syndrome LD2F.15 Orphanet 648 TPD-E73MX4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E73MX4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E73MX4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E73MX4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E73MX4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E73MX4 Lynch syndrome 2B90.Y Orphanet 144 TPD-E73MX4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E73MX4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E73S6U CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E77XGQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E79KPH Kennedy disease 8B61.4 Orphanet 481 TPD-E79KPH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E79KPH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E79KPH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E79TB9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E7BYI0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-E7BYI0 Wilson-Turner syndrome LD29 Orphanet 3459 TPD-E7CM1A Familial melanoma QC61.Y Orphanet 618 TPD-E7CM1A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E7F25L Kennedy disease 8B61.4 Orphanet 481 TPD-E7F25L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7F25L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7F25L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E7F5C7 Kennedy disease 8B61.4 Orphanet 481 TPD-E7F5C7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7F5C7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7F5C7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E7HI5O Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-E7HI5O Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-E7HI5O Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-E7HKFP Noonan syndrome LD2F.15 Orphanet 648 TPD-E7HKFP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-E7HKFP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-E7HKFP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E7HKFP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E7HKFP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-E7HKFP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-E7HKFP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-E7HKFP Craniopharyngioma 2F9A Orphanet 54595 TPD-E7HKFP Cushing disease 5A70.0 Orphanet 96253 TPD-E7JBXJ Noonan syndrome LD2F.15 Orphanet 648 TPD-E7JBXJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E7JBXJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E7JBXJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E7JBXJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E7JBXJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E7JBXJ Lynch syndrome 2B90.Y Orphanet 144 TPD-E7JBXJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E7JBXJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E7KXII Noonan syndrome LD2F.15 Orphanet 648 TPD-E7KXII Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E7KXII Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E7KXII Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E7KXII Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E7KXII Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E7KXII Lynch syndrome 2B90.Y Orphanet 144 TPD-E7KXII Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E7KXII Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E7PSVO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E7SFLZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-E7SFLZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-E7V888 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-E7V888 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-E7V888 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-E7V888 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-E7V888 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-E7V888 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-E7V888 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E7V888 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-E7V888 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-E7VUGW Kennedy disease 8B61.4 Orphanet 481 TPD-E7VUGW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7VUGW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7VUGW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E7W07E Kennedy disease 8B61.4 Orphanet 481 TPD-E7W07E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7W07E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7W07E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E7Y3TI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E7Z03S Kennedy disease 8B61.4 Orphanet 481 TPD-E7Z03S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7Z03S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7Z03S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E7ZN30 Familial melanoma QC61.Y Orphanet 618 TPD-E7ZN30 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E7ZWX1 Kennedy disease 8B61.4 Orphanet 481 TPD-E7ZWX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E7ZWX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E7ZWX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E89FQX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E89FQX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E89U7F Noonan syndrome LD2F.15 Orphanet 648 TPD-E89U7F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E89U7F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E89U7F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E89U7F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E89U7F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E89U7F Lynch syndrome 2B90.Y Orphanet 144 TPD-E89U7F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E89U7F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E8B2PG Familial melanoma QC61.Y Orphanet 618 TPD-E8B2PG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E8BPBV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-E8D80K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E8EIC1 Kennedy disease 8B61.4 Orphanet 481 TPD-E8EIC1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E8EIC1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E8EIC1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E8F1X2 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-E8MH7Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E8MH7Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E8MXNF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E8N24M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E8N24M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-E8O1KD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E8ODKV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E8ODKV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E8ODKV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E8P8S0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E8P8S0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E8P8S0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E8QKQW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E8RZ8B Kennedy disease 8B61.4 Orphanet 481 TPD-E8RZ8B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E8RZ8B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E8RZ8B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E8S10H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E8S10H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E8S10H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E8S10H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E8UBDY Kennedy disease 8B61.4 Orphanet 481 TPD-E8UBDY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E8UBDY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E8UBDY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E93DXO Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-E94CIX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E94TLJ Noonan syndrome LD2F.15 Orphanet 648 TPD-E94TLJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E94TLJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E94TLJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E94TLJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E94TLJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E94TLJ Lynch syndrome 2B90.Y Orphanet 144 TPD-E94TLJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E94TLJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E95WIZ Kennedy disease 8B61.4 Orphanet 481 TPD-E95WIZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E95WIZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E95WIZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E96LZJ Familial melanoma QC61.Y Orphanet 618 TPD-E96LZJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-E96RYC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-E96RYC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-E96RYC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-E96RYC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-E97IB9 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-E97IB9 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-E97IB9 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-E97IB9 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-E97IB9 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-E97IB9 Polycythemia vera 2A20.4 Orphanet 729 TPD-E97IB9 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-E9B1F7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E9B1F7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E9B1F7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E9BESW Noonan syndrome LD2F.15 Orphanet 648 TPD-E9BESW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-E9BESW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-E9BESW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-E9BESW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-E9BESW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-E9BESW Lynch syndrome 2B90.Y Orphanet 144 TPD-E9BESW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-E9BESW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-E9DAA7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-E9DEG4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-E9DEG4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-E9DEG4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-E9F7PU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E9G9A2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E9G9A2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E9G9A2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E9GU2W CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-E9NO5N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-E9NO5N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-E9NO5N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-E9QA8V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-E9QLSG Kennedy disease 8B61.4 Orphanet 481 TPD-E9QLSG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E9QLSG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E9QLSG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E9RD8U Kennedy disease 8B61.4 Orphanet 481 TPD-E9RD8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E9RD8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E9RD8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E9SFU9 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-E9SFU9 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-E9SFU9 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-E9SFU9 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-E9SFU9 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-E9SFU9 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-E9SFU9 Semantic dementia 6D83 Orphanet 100069 TPD-E9SFU9 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-E9TRCC Kennedy disease 8B61.4 Orphanet 481 TPD-E9TRCC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-E9TRCC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-E9TRCC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-E9XXGH Weaver syndrome LD2C Orphanet 3447 TPD-E9ZMYM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-E9ZMYM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EA2YAI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EA4C0T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EA4C0T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EA4C0T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EA61GY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EA61GY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EA6KKR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EA6KKR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EA6KKR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EA6KKR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EA9915 Kennedy disease 8B61.4 Orphanet 481 TPD-EA9915 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EA9915 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EA9915 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EAC62O Noonan syndrome LD2F.15 Orphanet 648 TPD-EAC62O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EAC62O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EAC62O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EAC62O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EAC62O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EAC62O Lynch syndrome 2B90.Y Orphanet 144 TPD-EAC62O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EAC62O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EADLXA Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-EADLXA Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-EADLXA Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-EADLXA Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-EAHZSA Kennedy disease 8B61.4 Orphanet 481 TPD-EAHZSA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EAHZSA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EAHZSA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EAIADF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EAIADF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EAJUJA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EALAOM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EALAOM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EALEME Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EAMDOK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EAO8D2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EAO8D2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EAO8D2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EAO8D2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EAQMRX Kennedy disease 8B61.4 Orphanet 481 TPD-EAQMRX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EAQMRX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EAQMRX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EAQSJ8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EATDKZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EAYABE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EB0BZ0 Kennedy disease 8B61.4 Orphanet 481 TPD-EB0BZ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EB0BZ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EB0BZ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EB3C2U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EB7TI5 Noonan syndrome LD2F.15 Orphanet 648 TPD-EB7TI5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EB7TI5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EB7TI5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EB7TI5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EB7TI5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EB7TI5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EB7TI5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EB7TI5 Craniopharyngioma 2F9A Orphanet 54595 TPD-EB7TI5 Cushing disease 5A70.0 Orphanet 96253 TPD-EBBIEL Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-EBFUED Familial melanoma QC61.Y Orphanet 618 TPD-EBFUED Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EBGNIN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EBH1OJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EBH1OJ Epithelioid hemangioendothelioma 2B5Y/XH9GF8 Orphanet 157791 TPD-EBH1OJ Uveal coloboma-cleft lip and palate-intellectual disability LD2F.1Y Orphanet 1473 TPD-EBIDHF Familial melanoma QC61.Y Orphanet 618 TPD-EBIDHF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EBIN3A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EBL4OH Achondroplasia LD24.00 Orphanet 15 TPD-EBL4OH Hypochondroplasia LD24.01 Orphanet 429 TPD-EBL4OH Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-EBL4OH Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-EBL4OH Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-EBL4OH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EBL4OH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EBL4OH Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-EBL4OH Muenke syndrome LD24.GY Orphanet 53271 TPD-EBL4OH Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-EBL4OH Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-EBL4OH Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-EBQ53F Noonan syndrome LD2F.15 Orphanet 648 TPD-EBQ53F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EBQ53F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EBQ53F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EBQ53F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EBQ53F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EBQ53F Lynch syndrome 2B90.Y Orphanet 144 TPD-EBQ53F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EBQ53F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EBR486 Familial melanoma QC61.Y Orphanet 618 TPD-EBR486 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EBS66F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EBS66F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EBS66F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EBUPH8 Noonan syndrome LD2F.15 Orphanet 648 TPD-EBUPH8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EBUPH8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EBUPH8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EBUPH8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EBUPH8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EBUPH8 Lynch syndrome 2B90.Y Orphanet 144 TPD-EBUPH8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EBUPH8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EBVIK3 Kennedy disease 8B61.4 Orphanet 481 TPD-EBVIK3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EBVIK3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EBVIK3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EBWG5W Kennedy disease 8B61.4 Orphanet 481 TPD-EBWG5W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EBWG5W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EBWG5W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EBY0TS Noonan syndrome LD2F.15 Orphanet 648 TPD-EBY0TS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EBY0TS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EBY0TS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EBY0TS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EBY0TS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EBY0TS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EBY0TS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EBY0TS Craniopharyngioma 2F9A Orphanet 54595 TPD-EBY0TS Cushing disease 5A70.0 Orphanet 96253 TPD-EBZZM5 Kennedy disease 8B61.4 Orphanet 481 TPD-EBZZM5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EBZZM5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EBZZM5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EC39SU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EC39SU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EC5FVP Kennedy disease 8B61.4 Orphanet 481 TPD-EC5FVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EC5FVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EC5FVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EC6SFF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EC6V2Z Kennedy disease 8B61.4 Orphanet 481 TPD-EC6V2Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EC6V2Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EC6V2Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EC77D5 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-EC867A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EC867A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EC867A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EC867A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ECABFK Noonan syndrome LD2F.15 Orphanet 648 TPD-ECABFK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ECABFK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECABFK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ECABFK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECABFK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ECABFK Lynch syndrome 2B90.Y Orphanet 144 TPD-ECABFK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ECABFK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ECBC8S Noonan syndrome LD2F.15 Orphanet 648 TPD-ECBC8S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ECBC8S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECBC8S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ECBC8S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECBC8S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ECBC8S Lynch syndrome 2B90.Y Orphanet 144 TPD-ECBC8S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ECBC8S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ECC0CG Kennedy disease 8B61.4 Orphanet 481 TPD-ECC0CG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ECC0CG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ECC0CG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ECCWE4 Familial melanoma QC61.Y Orphanet 618 TPD-ECCWE4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ECFKEG Noonan syndrome LD2F.15 Orphanet 648 TPD-ECFKEG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ECFKEG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECFKEG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ECFKEG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECFKEG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ECFKEG Lynch syndrome 2B90.Y Orphanet 144 TPD-ECFKEG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ECFKEG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ECFTAM Kennedy disease 8B61.4 Orphanet 481 TPD-ECFTAM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ECFTAM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ECFTAM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ECKW52 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ECKW52 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ECM92J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ECM92J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ECM92J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ECN4KZ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-ECN4KZ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-ECN4KZ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-ECN4KZ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-ECN4KZ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-ECN4KZ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-ECN4KZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ECN4KZ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-ECN4KZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ECPAXV Noonan syndrome LD2F.15 Orphanet 648 TPD-ECPAXV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ECQCJP Noonan syndrome LD2F.15 Orphanet 648 TPD-ECQCJP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ECQCJP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECQCJP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ECQCJP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECQCJP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ECQCJP Lynch syndrome 2B90.Y Orphanet 144 TPD-ECQCJP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ECQCJP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ECUR0R Noonan syndrome LD2F.15 Orphanet 648 TPD-ECUR0R Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ECUR0R Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ECUR0R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECUR0R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECUR0R Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ECUR0R Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ECUR0R Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ECUR0R Craniopharyngioma 2F9A Orphanet 54595 TPD-ECUR0R Cushing disease 5A70.0 Orphanet 96253 TPD-ECWYN5 Kennedy disease 8B61.4 Orphanet 481 TPD-ECWYN5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ECWYN5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ECWYN5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ED2A07 Kennedy disease 8B61.4 Orphanet 481 TPD-ED2A07 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ED2A07 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ED2A07 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ED34PE Noonan syndrome LD2F.15 Orphanet 648 TPD-ED34PE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ED34PE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ED34PE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ED34PE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ED34PE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ED34PE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ED34PE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ED34PE Craniopharyngioma 2F9A Orphanet 54595 TPD-ED34PE Cushing disease 5A70.0 Orphanet 96253 TPD-EDCT40 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EDCT40 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EDEYWF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EDG2KS Weaver syndrome LD2C Orphanet 3447 TPD-EDLJ4B Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-EDML2F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EDML2F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EDML2F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EDNE5W Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-EDP7ZW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EDQ1C2 Kennedy disease 8B61.4 Orphanet 481 TPD-EDQ1C2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EDQ1C2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EDQ1C2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EDXNSI Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-EDXNSI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EDXNSI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-EDY50G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EDY50G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EDY50G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EDY50G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EDYLNQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EE00SF Familial melanoma QC61.Y Orphanet 618 TPD-EE00SF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EE3ZSG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EE4RUB Kennedy disease 8B61.4 Orphanet 481 TPD-EE4RUB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EE4RUB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EE4RUB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EE7UXR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EE8UJE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EE8UJE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EE8UJE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EEFMKX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EEFMKX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EEG1SI Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EEGKQB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EEGKQB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EEGKQB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EEH3FT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EEH3FT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EEH3FT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EEJG83 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EEJG83 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EEJG83 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EEJG83 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EEP5V5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EEP5V5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EEP5V5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EEP9N5 Noonan syndrome LD2F.15 Orphanet 648 TPD-EEP9N5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EEP9N5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EEP9N5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EEP9N5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EEP9N5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EEP9N5 Lynch syndrome 2B90.Y Orphanet 144 TPD-EEP9N5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EEP9N5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EEPIQ2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EEPIQ2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EET59V Noonan syndrome LD2F.15 Orphanet 648 TPD-EET59V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EET59V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EET59V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EET59V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EET59V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EET59V Lynch syndrome 2B90.Y Orphanet 144 TPD-EET59V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EET59V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EEU9H4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EEU9H4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EEU9QI Noonan syndrome LD2F.15 Orphanet 648 TPD-EEU9QI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EEU9QI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EEU9QI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EEU9QI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EEU9QI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EEU9QI Lynch syndrome 2B90.Y Orphanet 144 TPD-EEU9QI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EEU9QI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EEVR2V Kennedy disease 8B61.4 Orphanet 481 TPD-EEVR2V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EEVR2V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EEVR2V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EEW8IS Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EEWWQ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-EEWWQ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EEWWQ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EEWWQ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EEWWQ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EEWWQ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EEWWQ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-EEWWQ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EEWWQ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EF0FG6 Kennedy disease 8B61.4 Orphanet 481 TPD-EF0FG6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EF0FG6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EF0FG6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EF3S13 Kennedy disease 8B61.4 Orphanet 481 TPD-EF3S13 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EF3S13 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EF3S13 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EF4DRM Kennedy disease 8B61.4 Orphanet 481 TPD-EF4DRM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EF4DRM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EF4DRM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EF6BWP Noonan syndrome LD2F.15 Orphanet 648 TPD-EF6BWP Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-EF6P6I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EF7WJ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-EF7WJ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EF7WJ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EF7WJ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EF7WJ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EF7WJ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EF7WJ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-EF7WJ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EF7WJ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EFC0KG Noonan syndrome LD2F.15 Orphanet 648 TPD-EFC0KG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EFC0KG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EFC0KG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EFC0KG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EFC0KG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EFC0KG Lynch syndrome 2B90.Y Orphanet 144 TPD-EFC0KG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EFC0KG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EFMYCV Noonan syndrome LD2F.15 Orphanet 648 TPD-EFMYCV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EFMYCV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EFMYCV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EFMYCV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EFMYCV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EFMYCV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EFMYCV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EFMYCV Craniopharyngioma 2F9A Orphanet 54595 TPD-EFMYCV Cushing disease 5A70.0 Orphanet 96253 TPD-EFN1EL Kennedy disease 8B61.4 Orphanet 481 TPD-EFN1EL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EFN1EL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EFN1EL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EFO0FF Noonan syndrome LD2F.15 Orphanet 648 TPD-EFO0FF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EFO0FF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EFO0FF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EFO0FF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EFO0FF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EFO0FF Lynch syndrome 2B90.Y Orphanet 144 TPD-EFO0FF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EFO0FF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EFY8S0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EG4485 Kennedy disease 8B61.4 Orphanet 481 TPD-EG4485 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EG4485 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EG4485 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EG49CU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EG49CU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EG49CU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EG6AXB Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-EG6VIA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EG6VIA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EG6VIA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EG7DDB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EG7DDB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EG7DDB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EG86R4 Kennedy disease 8B61.4 Orphanet 481 TPD-EG86R4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EG86R4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EG86R4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EGEBVL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EGEBVL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EGEPWN Kennedy disease 8B61.4 Orphanet 481 TPD-EGEPWN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EGEPWN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EGEPWN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EGFOEN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EGFOEN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EGFOEN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EGFOEN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EGGPR2 Familial melanoma QC61.Y Orphanet 618 TPD-EGGPR2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EGJXMO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EGJXMO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EGMKSP Familial melanoma QC61.Y Orphanet 618 TPD-EGMKSP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EGPLTP Noonan syndrome LD2F.15 Orphanet 648 TPD-EGPLTP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EGPLTP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EGPLTP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EGPLTP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EGPLTP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EGPLTP Lynch syndrome 2B90.Y Orphanet 144 TPD-EGPLTP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EGPLTP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EGQ6NF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EGV1H2 Familial melanoma QC61.Y Orphanet 618 TPD-EGV1H2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EGVTJ9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EGVTJ9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EGVYMF Kennedy disease 8B61.4 Orphanet 481 TPD-EGVYMF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EGVYMF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EGVYMF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EGWHTB Kennedy disease 8B61.4 Orphanet 481 TPD-EGWHTB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EGWHTB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EGWHTB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EGZPFV Kennedy disease 8B61.4 Orphanet 481 TPD-EGZPFV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EGZPFV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EGZPFV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EH4MDN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EH4MDN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EH4MDN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EH6NKA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EH6NKA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EH6NKA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EH6NKA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EH6NKA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EH6NKA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EH6NKA Semantic dementia 6D83 Orphanet 100069 TPD-EH6NKA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EH7F6C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EH7F6C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EH7F6C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EH7F6C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EHAXOP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EHAXOP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EHCM3B Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-EHCM3B Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-EHCM3B Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-EHCM3B Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-EHCM3B Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-EHCM3B Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-EHCM3B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EHCM3B Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-EHCM3B Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-EHCX2K Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EHCX2K Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EHI55D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EHI55D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EHI55D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EHMCS8 Noonan syndrome LD2F.15 Orphanet 648 TPD-EHMCS8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-EHNUL7 Kennedy disease 8B61.4 Orphanet 481 TPD-EHNUL7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EHNUL7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EHNUL7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EHOFWO Kennedy disease 8B61.4 Orphanet 481 TPD-EHOFWO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EHOFWO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EHOFWO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EHPYLB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EHPYLB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EHQNHT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EHQNHT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EHSB8X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EHSB8X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EHSB8X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EHU4PL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EHU4PL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EHU4PL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EHULFJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EHWVAM Noonan syndrome LD2F.15 Orphanet 648 TPD-EHWVAM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EHWVAM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EHWVAM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EHWVAM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EHWVAM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EHWVAM Lynch syndrome 2B90.Y Orphanet 144 TPD-EHWVAM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EHWVAM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EHX5FY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EHX5FY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EHX93D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EHX93D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EHX93D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EHX93D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EHZFTI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EI0ZIL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EIAYD0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EIAYD0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EIAYD0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EIAYD0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EIB4CN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EIBLJO Hirschsprung disease LB16.1 Orphanet 388 TPD-EIBLJO Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-EIBLJO Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-EIE1DJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EIFGU4 Kennedy disease 8B61.4 Orphanet 481 TPD-EIFGU4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EIFGU4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EIFGU4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EIHW58 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EIHW58 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EIHW58 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EIJ2D7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EIJ2D7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EIJ2D7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EIJ2D7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EIQ69L Hirschsprung disease LB16.1 Orphanet 388 TPD-EIQ69L Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-EIQ69L Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-EIS150 Familial melanoma QC61.Y Orphanet 618 TPD-EIS150 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EITYNI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EITYNI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EITYNI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EJ1GUC Noonan syndrome LD2F.15 Orphanet 648 TPD-EJ1GUC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJ1GUC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJ1GUC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJ1GUC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJ1GUC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJ1GUC Lynch syndrome 2B90.Y Orphanet 144 TPD-EJ1GUC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJ1GUC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJ25SZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EJ25SZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EJ25SZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EJ25SZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EJ2HLI Lissencephaly due to TUBA1A mutation LD20.1 Orphanet 171680 TPD-EJ2HLI Fetal akinesia deformation sequence LD2F.1Y Orphanet 994 TPD-EJ2HLI Congenital fibrosis of extraocular muscles 9C82.2 Orphanet 45358 TPD-EJ4X6G Noonan syndrome LD2F.15 Orphanet 648 TPD-EJ4X6G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJ4X6G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJ4X6G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJ4X6G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJ4X6G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJ4X6G Lynch syndrome 2B90.Y Orphanet 144 TPD-EJ4X6G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJ4X6G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJ6CYL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EJ6CYL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EJ6D6H Weaver syndrome LD2C Orphanet 3447 TPD-EJ6Z25 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EJ6Z25 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EJ6Z25 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EJ6Z25 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EJ723Q Kennedy disease 8B61.4 Orphanet 481 TPD-EJ723Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EJ723Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EJ723Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EJ8M1R Kennedy disease 8B61.4 Orphanet 481 TPD-EJ8M1R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EJ8M1R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EJ8M1R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EJ96DM Noonan syndrome LD2F.15 Orphanet 648 TPD-EJ96DM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJ96DM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJ96DM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJ96DM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJ96DM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJ96DM Lynch syndrome 2B90.Y Orphanet 144 TPD-EJ96DM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJ96DM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJA9ZX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EJA9ZX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EJA9ZX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EJA9ZX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EJCU2W Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-EJCU2W Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-EJFV56 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EJHS1V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EJJSHO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EJJSHO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EJKBS5 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-EJKLDC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EJKLDC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EJKLDC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EJL8SI Noonan syndrome LD2F.15 Orphanet 648 TPD-EJL8SI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJL8SI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJL8SI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJL8SI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJL8SI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJL8SI Lynch syndrome 2B90.Y Orphanet 144 TPD-EJL8SI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJL8SI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJNYCF Noonan syndrome LD2F.15 Orphanet 648 TPD-EJNYCF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJNYCF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJNYCF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJNYCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJNYCF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJNYCF Lynch syndrome 2B90.Y Orphanet 144 TPD-EJNYCF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJNYCF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJOPU1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EJREOB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EJSLDH Noonan syndrome LD2F.15 Orphanet 648 TPD-EJSLDH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EJSLDH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EJSLDH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EJSLDH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EJSLDH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EJSLDH Lynch syndrome 2B90.Y Orphanet 144 TPD-EJSLDH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EJSLDH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EJVZAO Kennedy disease 8B61.4 Orphanet 481 TPD-EJVZAO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EJVZAO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EJVZAO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EJW325 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EJW325 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EJW325 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EJW325 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EK1K4G Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-EK1QFA Noonan syndrome LD2F.15 Orphanet 648 TPD-EK1QFA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EK1QFA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EK1QFA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EK1QFA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EK1QFA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EK1QFA Lynch syndrome 2B90.Y Orphanet 144 TPD-EK1QFA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EK1QFA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EK57B3 Kennedy disease 8B61.4 Orphanet 481 TPD-EK57B3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EK57B3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EK57B3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EK7CMM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EK7CMM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EKBK5K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EKCB4R Noonan syndrome LD2F.15 Orphanet 648 TPD-EKCB4R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EKCB4R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EKCB4R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EKCB4R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EKCB4R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EKCB4R Lynch syndrome 2B90.Y Orphanet 144 TPD-EKCB4R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EKCB4R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EKCEIL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EKCEIL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EKE08Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EKE08Y Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EKEVVO Isolated focal cortical dysplasia type IIb LA05.51 Orphanet 269008 TPD-EKEVVO Isolated focal cortical dysplasia type IIa LA05.51 Orphanet 269001 TPD-EKEVVO Hemimegalencephaly LA05.1 Orphanet 99802 TPD-EKGKWL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EKLET3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EKLET3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EKNBVQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EKNBVQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EKNBVQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EKO8T6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EKO8T6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EKO8T6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EKPCRX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EKQMHM Kennedy disease 8B61.4 Orphanet 481 TPD-EKQMHM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EKQMHM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EKQMHM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EKS3NO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EKXDS4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EKXDS4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EKY3SB Kennedy disease 8B61.4 Orphanet 481 TPD-EKY3SB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EKY3SB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EKY3SB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EL410K Noonan syndrome LD2F.15 Orphanet 648 TPD-EL410K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EL410K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EL410K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EL410K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EL410K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EL410K Lynch syndrome 2B90.Y Orphanet 144 TPD-EL410K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EL410K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EL5GM3 Kennedy disease 8B61.4 Orphanet 481 TPD-EL5GM3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EL5GM3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EL5GM3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EL5ZFI Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-EL66KF Noonan syndrome LD2F.15 Orphanet 648 TPD-EL66KF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EL66KF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EL66KF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EL66KF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EL66KF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EL66KF Lynch syndrome 2B90.Y Orphanet 144 TPD-EL66KF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EL66KF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EL6TWQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EL6TWQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EL71JW Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EL9YJ7 Familial melanoma QC61.Y Orphanet 618 TPD-EL9YJ7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ELA06I Kennedy disease 8B61.4 Orphanet 481 TPD-ELA06I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ELA06I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ELA06I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ELBE1Q Kennedy disease 8B61.4 Orphanet 481 TPD-ELBE1Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ELBE1Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ELBE1Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ELED1D Noonan syndrome LD2F.15 Orphanet 648 TPD-ELED1D Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ELED1D Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ELED1D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ELED1D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ELED1D Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ELED1D Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ELED1D Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ELED1D Craniopharyngioma 2F9A Orphanet 54595 TPD-ELED1D Cushing disease 5A70.0 Orphanet 96253 TPD-ELFCGU Kennedy disease 8B61.4 Orphanet 481 TPD-ELFCGU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ELFCGU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ELFCGU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ELGR2F Kennedy disease 8B61.4 Orphanet 481 TPD-ELGR2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ELGR2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ELGR2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ELLJS1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ELN0TJ Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-ELN0TJ Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-ELN0TJ Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-ELN0TJ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-ELN0TJ Primary myelofibrosis 2A20.2 Orphanet 824 TPD-ELN0TJ Polycythemia vera 2A20.4 Orphanet 729 TPD-ELN0TJ Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-ELODRZ Noonan syndrome LD2F.15 Orphanet 648 TPD-ELODRZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ELODRZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ELODRZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ELODRZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ELODRZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ELODRZ Lynch syndrome 2B90.Y Orphanet 144 TPD-ELODRZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ELODRZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ELOOAN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ELOOAN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ELOOAN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ELRSPV Kennedy disease 8B61.4 Orphanet 481 TPD-ELRSPV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ELRSPV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ELRSPV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ELSDXS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ELSDXS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ELSDXS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ELSDXS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ELSDXS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ELSDXS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ELSDXS Semantic dementia 6D83 Orphanet 100069 TPD-ELSDXS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ELVVHX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ELVVHX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ELVVHX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ELY8M8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ELY8M8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ELY8M8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EM17WY Kennedy disease 8B61.4 Orphanet 481 TPD-EM17WY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EM17WY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EM17WY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EM29U9 Kennedy disease 8B61.4 Orphanet 481 TPD-EM29U9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EM29U9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EM29U9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EM3N8F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EM9VBJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EM9VBJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EM9VBJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EMB6FF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EMB6FF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EMB6FF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EMB6FF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EMB6FF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EMB6FF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EMB6FF Semantic dementia 6D83 Orphanet 100069 TPD-EMB6FF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EMEK0R Kennedy disease 8B61.4 Orphanet 481 TPD-EMEK0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EMEK0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EMEK0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EMELG9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EMELG9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EMELG9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EMFBX9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EMFBX9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-EMFBX9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EMIDET Familial melanoma QC61.Y Orphanet 618 TPD-EMIDET Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EMOYYL Noonan syndrome LD2F.15 Orphanet 648 TPD-EMOYYL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EMOYYL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EMOYYL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EMOYYL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EMOYYL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EMOYYL Lynch syndrome 2B90.Y Orphanet 144 TPD-EMOYYL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EMOYYL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EMPNE8 Weaver syndrome LD2C Orphanet 3447 TPD-EMPNE8 Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-EMW1Q1 Kennedy disease 8B61.4 Orphanet 481 TPD-EMW1Q1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EMW1Q1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EMW1Q1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EMX95S Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EMX95S Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EN00YM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EN00YM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EN0PM5 Familial melanoma QC61.Y Orphanet 618 TPD-EN0PM5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EN3QA7 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-EN7LHP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EN7LHP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EN7LHP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ENF6KY Noonan syndrome LD2F.15 Orphanet 648 TPD-ENF6KY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ENF6KY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ENF6KY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ENF6KY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ENF6KY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ENF6KY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ENF6KY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ENF6KY Craniopharyngioma 2F9A Orphanet 54595 TPD-ENF6KY Cushing disease 5A70.0 Orphanet 96253 TPD-ENGGX1 Kennedy disease 8B61.4 Orphanet 481 TPD-ENGGX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ENGGX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ENGGX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ENI833 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ENI833 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ENPFAS Noonan syndrome LD2F.15 Orphanet 648 TPD-ENPFAS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ENPFAS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ENPFAS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ENPFAS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ENPFAS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ENPFAS Lynch syndrome 2B90.Y Orphanet 144 TPD-ENPFAS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ENPFAS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ENPNOT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ENPNOT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ENPNOT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ENSWRS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ENSWRS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ENSWRS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ENU68C Kennedy disease 8B61.4 Orphanet 481 TPD-ENU68C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ENU68C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ENU68C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ENVV2V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ENVV2V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ENVV2V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ENW979 Noonan syndrome LD2F.15 Orphanet 648 TPD-ENW979 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ENW979 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ENW979 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ENW979 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ENW979 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ENW979 Lynch syndrome 2B90.Y Orphanet 144 TPD-ENW979 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ENW979 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ENY4CV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ENY4CV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ENZJ8J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ENZJ8J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EO0Z0X Kennedy disease 8B61.4 Orphanet 481 TPD-EO0Z0X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EO0Z0X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EO0Z0X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EO3KK6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EO3KK6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EO7904 Kennedy disease 8B61.4 Orphanet 481 TPD-EO7904 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EO7904 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EO7904 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EOA0Z1 Kennedy disease 8B61.4 Orphanet 481 TPD-EOA0Z1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EOA0Z1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EOA0Z1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EOAB1A CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EOCU32 Kennedy disease 8B61.4 Orphanet 481 TPD-EOCU32 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EOCU32 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EOCU32 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EOD51F Noonan syndrome LD2F.15 Orphanet 648 TPD-EOD51F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EOD51F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EOD51F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EOD51F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EOD51F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EOD51F Lynch syndrome 2B90.Y Orphanet 144 TPD-EOD51F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EOD51F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EODQYN Noonan syndrome LD2F.15 Orphanet 648 TPD-EODQYN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EODQYN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EODQYN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EODQYN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EODQYN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EODQYN Lynch syndrome 2B90.Y Orphanet 144 TPD-EODQYN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EODQYN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EOJ2DV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EOKS1D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EOKS1D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EOKS1D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EOL5BI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EOL5BI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EOL5BI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EOL5BI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EOMHF1 Familial melanoma QC61.Y Orphanet 618 TPD-EOMHF1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EONF1Z Noonan syndrome LD2F.15 Orphanet 648 TPD-EONF1Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EONF1Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EONF1Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EONF1Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EONF1Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EONF1Z Lynch syndrome 2B90.Y Orphanet 144 TPD-EONF1Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EONF1Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EOPSNP Kennedy disease 8B61.4 Orphanet 481 TPD-EOPSNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EOPSNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EOPSNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EOTCME Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EOVUPN Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EOVUPN Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EP0AF4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EP0AF4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EP0AF4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EP0AF4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EP5D0A Noonan syndrome LD2F.15 Orphanet 648 TPD-EP5D0A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EP5D0A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EP5D0A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EP5D0A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EP5D0A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EP5D0A Lynch syndrome 2B90.Y Orphanet 144 TPD-EP5D0A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EP5D0A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EP7ADI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EPDNH8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EPDNH8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EPG1SD Kennedy disease 8B61.4 Orphanet 481 TPD-EPG1SD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EPG1SD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EPG1SD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EPG2RT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EPHHGI Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EPLYUH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EPLYUH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EPM2LQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-EPMGXH Familial melanoma QC61.Y Orphanet 618 TPD-EPMGXH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EPSDRB Noonan syndrome LD2F.15 Orphanet 648 TPD-EPSDRB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EPSDRB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EPSDRB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EPSDRB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EPSDRB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EPSDRB Lynch syndrome 2B90.Y Orphanet 144 TPD-EPSDRB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EPSDRB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EPTD2E Kennedy disease 8B61.4 Orphanet 481 TPD-EPTD2E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EPTD2E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EPTD2E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EPWOTA Noonan syndrome LD2F.15 Orphanet 648 TPD-EPWOTA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EPWOTA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EPWOTA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EPWOTA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EPWOTA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EPWOTA Lynch syndrome 2B90.Y Orphanet 144 TPD-EPWOTA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EPWOTA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EPYJAM Kennedy disease 8B61.4 Orphanet 481 TPD-EPYJAM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EPYJAM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EPYJAM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EQ04AZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EQ04AZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EQ04AZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EQ6OQ8 Noonan syndrome LD2F.15 Orphanet 648 TPD-EQ6OQ8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EQ6OQ8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EQ6OQ8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EQ6OQ8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EQ6OQ8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EQ6OQ8 Lynch syndrome 2B90.Y Orphanet 144 TPD-EQ6OQ8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EQ6OQ8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EQ9JM9 Noonan syndrome LD2F.15 Orphanet 648 TPD-EQ9JM9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EQ9JM9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EQ9JM9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EQ9JM9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EQ9JM9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EQ9JM9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EQ9JM9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EQ9JM9 Craniopharyngioma 2F9A Orphanet 54595 TPD-EQ9JM9 Cushing disease 5A70.0 Orphanet 96253 TPD-EQBZ25 Kennedy disease 8B61.4 Orphanet 481 TPD-EQBZ25 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EQBZ25 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EQBZ25 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EQDYMB Kennedy disease 8B61.4 Orphanet 481 TPD-EQDYMB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EQDYMB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EQDYMB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EQFNF5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EQHNIO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EQHNIO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EQHNIO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EQHNIO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EQI9T0 Kennedy disease 8B61.4 Orphanet 481 TPD-EQI9T0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EQI9T0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EQI9T0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EQKVLT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EQKVLT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EQM8VL Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EQM8VL Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EQM8VL Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EQM8VL Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EQM8VL Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EQM8VL Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EQM8VL Semantic dementia 6D83 Orphanet 100069 TPD-EQM8VL Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EQN8G7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EQNWIV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EQNWIV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EQNWIV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EQNWIV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EQQB3Y Noonan syndrome LD2F.15 Orphanet 648 TPD-EQQB3Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EQQB3Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EQQB3Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EQQB3Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EQQB3Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EQQB3Y Lynch syndrome 2B90.Y Orphanet 144 TPD-EQQB3Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EQQB3Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EQRCUZ Familial melanoma QC61.Y Orphanet 618 TPD-EQRCUZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EQRLRZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EQRPA3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EQRPA3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EQRPA3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EQTQCR Kennedy disease 8B61.4 Orphanet 481 TPD-EQTQCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EQTQCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EQTQCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ER2BGU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ERAGRA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ERAGRA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ERAGRA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ERAGRA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ERBSX3 Noonan syndrome LD2F.15 Orphanet 648 TPD-ERBSX3 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ERHOYL Noonan syndrome LD2F.15 Orphanet 648 TPD-ERHOYL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ERHOYL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ERHOYL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ERHOYL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ERHOYL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ERHOYL Lynch syndrome 2B90.Y Orphanet 144 TPD-ERHOYL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ERHOYL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ERIAZW Familial melanoma QC61.Y Orphanet 618 TPD-ERIAZW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ERKCDC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ERKCDC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ERKCDC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ERKCDC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ERKCDC Neuroblastoma 2A00.11 Orphanet 635 TPD-ERKCDC Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-ERKCDC ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-ERKCDC ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-ERKCDC Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-ERMM4B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ERNMAA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ERQ0XV Noonan syndrome LD2F.15 Orphanet 648 TPD-ERQ0XV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ERSV5H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ERSV5H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ERSV5H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ERSV5H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ERWAIP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ERWAIP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ERWJCJ Familial melanoma QC61.Y Orphanet 618 TPD-ES0ZG1 Noonan syndrome LD2F.15 Orphanet 648 TPD-ES0ZG1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ES0ZG1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ES0ZG1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ES0ZG1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ES0ZG1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ES0ZG1 Lynch syndrome 2B90.Y Orphanet 144 TPD-ES0ZG1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ES0ZG1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ES1NJR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ES1NJR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ES3Z8O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ES46S8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ES46S8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ES46S8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ES4K2R Noonan syndrome LD2F.15 Orphanet 648 TPD-ES4K2R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ES4K2R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ES4K2R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ES4K2R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ES4K2R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ES4K2R Lynch syndrome 2B90.Y Orphanet 144 TPD-ES4K2R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ES4K2R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ES4LR4 Kennedy disease 8B61.4 Orphanet 481 TPD-ES4LR4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ES4LR4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ES4LR4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ES5SNL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ES5SNL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ES7ER2 Noonan syndrome LD2F.15 Orphanet 648 TPD-ES7ER2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ES7ER2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ES7ER2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ES7ER2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ES7ER2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ES7ER2 Lynch syndrome 2B90.Y Orphanet 144 TPD-ES7ER2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ES7ER2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ESE190 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ESE1Y3 Noonan syndrome LD2F.15 Orphanet 648 TPD-ESE1Y3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ESE1Y3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ESE1Y3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ESE1Y3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ESE1Y3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ESE1Y3 Lynch syndrome 2B90.Y Orphanet 144 TPD-ESE1Y3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ESE1Y3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ESE1Z7 Noonan syndrome LD2F.15 Orphanet 648 TPD-ESE1Z7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ESE1Z7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ESE1Z7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ESE1Z7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ESE1Z7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ESE1Z7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ESE1Z7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ESE1Z7 Craniopharyngioma 2F9A Orphanet 54595 TPD-ESE1Z7 Cushing disease 5A70.0 Orphanet 96253 TPD-ESESWH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ESESWH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ESESWH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ESESWH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ESF97E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ESIP79 Familial melanoma QC61.Y Orphanet 618 TPD-ESIP79 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ESOF7C Kennedy disease 8B61.4 Orphanet 481 TPD-ESOF7C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ESOF7C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ESOF7C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ESPV9V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ESPV9V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ESPV9V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ESPV9V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ESREXD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ESTGRO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ESTGRO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ESTGRO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ESTUOS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ESTUOS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ESTUOS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ESVR02 Noonan syndrome LD2F.15 Orphanet 648 TPD-ESVR02 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ESVR02 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ESVR02 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ESVR02 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ESVR02 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ESVR02 Lynch syndrome 2B90.Y Orphanet 144 TPD-ESVR02 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ESVR02 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ESWPR9 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-ESWPR9 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-ESWPR9 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-ESWPR9 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-ESWPR9 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-ESWPR9 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-ESWPR9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ESWPR9 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-ESWPR9 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ESYIJM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ESYIJM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ESYK84 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ESYK84 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ESYK84 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ESYK84 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ESYK84 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ESYK84 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ESYK84 Semantic dementia 6D83 Orphanet 100069 TPD-ESYK84 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ET0PKS Kennedy disease 8B61.4 Orphanet 481 TPD-ET0PKS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ET0PKS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ET0PKS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ET2Q2K Familial melanoma QC61.Y Orphanet 618 TPD-ET2Q2K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ET81WY Kennedy disease 8B61.4 Orphanet 481 TPD-ET81WY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ET81WY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ET81WY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ETAAR9 Noonan syndrome LD2F.15 Orphanet 648 TPD-ETAAR9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ETAAR9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ETAAR9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ETAAR9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ETAAR9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ETAAR9 Lynch syndrome 2B90.Y Orphanet 144 TPD-ETAAR9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ETAAR9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ETC24X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ETC24X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ETC24X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ETC4Y1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ETC4Y1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ETC4Y1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ETC4Y1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ETC4Y1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ETC4Y1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ETC4Y1 Semantic dementia 6D83 Orphanet 100069 TPD-ETC4Y1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ETES22 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-ETES22 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-ETES22 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-ETES22 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-ETES22 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-ETES22 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-ETES22 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ETES22 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-ETES22 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ETGILY Noonan syndrome LD2F.15 Orphanet 648 TPD-ETGILY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ETGILY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ETGILY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ETGILY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ETGILY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ETGILY Lynch syndrome 2B90.Y Orphanet 144 TPD-ETGILY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ETGILY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ETKOOU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ETLWNP Kennedy disease 8B61.4 Orphanet 481 TPD-ETLWNP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ETLWNP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ETLWNP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ETQ1SW Hirschsprung disease LB16.1 Orphanet 388 TPD-ETQ1SW Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-ETQ1X3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ETRIAE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ETRIAE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ETRIAE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ETRLRA Familial melanoma QC61.Y Orphanet 618 TPD-ETRLRA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ETU6TA Burkitt lymphoma XH4KA9 Orphanet 543 TPD-ETU6TA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ETU6TA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EU1I2K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EU1I2K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EU1I2K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EU6UJ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-EU6UJ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EU6UJ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EU6UJ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EU6UJ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EU6UJ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EU6UJ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-EU6UJ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EU6UJ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EU7BA3 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-EU7BA3 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-EU7BA3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EU7BA3 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-EU7BA3 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-EU7BA3 Desminopathy 8C76 Orphanet 98909 TPD-EUAJFT Noonan syndrome LD2F.15 Orphanet 648 TPD-EUAJFT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EUAJFT Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-EUAJFT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EUAJFT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EUC82K Noonan syndrome LD2F.15 Orphanet 648 TPD-EUC82K Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EUC82K Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EUC82K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EUC82K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EUC82K Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EUC82K Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EUC82K Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EUC82K Craniopharyngioma 2F9A Orphanet 54595 TPD-EUC82K Cushing disease 5A70.0 Orphanet 96253 TPD-EUCLR9 Noonan syndrome LD2F.15 Orphanet 648 TPD-EUCLR9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EUCLR9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EUCLR9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EUCLR9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EUCLR9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EUCLR9 Lynch syndrome 2B90.Y Orphanet 144 TPD-EUCLR9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EUCLR9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EUD09L CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EUDANG Kennedy disease 8B61.4 Orphanet 481 TPD-EUDANG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EUDANG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EUDANG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EUFS8A Weaver syndrome LD2C Orphanet 3447 TPD-EUU3FP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EUU3FP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EUUIBA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EUUIBA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EUV98X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EUVFT5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EUVVV4 Kennedy disease 8B61.4 Orphanet 481 TPD-EUVVV4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EUVVV4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EUVVV4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EUYZ72 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EUYZ72 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EV0F8L Noonan syndrome LD2F.15 Orphanet 648 TPD-EV0F8L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EV0F8L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EV0F8L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EV0F8L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EV0F8L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EV0F8L Lynch syndrome 2B90.Y Orphanet 144 TPD-EV0F8L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EV0F8L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EV0R3W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EV63EY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EV63EY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EV63EY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EV6AUZ Familial melanoma QC61.Y Orphanet 618 TPD-EV6AUZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EV7XM5 Familial melanoma QC61.Y Orphanet 618 TPD-EV7XM5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EVA7WV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-EVA7WV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-EVAAP7 Noonan syndrome LD2F.15 Orphanet 648 TPD-EVAAP7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EVAAP7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EVAAP7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EVAAP7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EVAAP7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EVAAP7 Lynch syndrome 2B90.Y Orphanet 144 TPD-EVAAP7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EVAAP7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EVH84I Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EVH84I Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EVH84I Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EVH84I Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EVH84I Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EVH84I Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EVH84I Semantic dementia 6D83 Orphanet 100069 TPD-EVH84I Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EVIPTH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EVIPTH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EVMIW2 Noonan syndrome LD2F.15 Orphanet 648 TPD-EVMIW2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EVMIW2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EVMIW2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EVMIW2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EVMIW2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EVMIW2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EVMIW2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EVMIW2 Craniopharyngioma 2F9A Orphanet 54595 TPD-EVMIW2 Cushing disease 5A70.0 Orphanet 96253 TPD-EVNVSE Kennedy disease 8B61.4 Orphanet 481 TPD-EVNVSE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EVNVSE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EVNVSE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EVPIUI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EVPIUI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EVRGDN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EVRGDN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EVS1GM Kennedy disease 8B61.4 Orphanet 481 TPD-EVS1GM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EVS1GM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EVS1GM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EVT8K4 Kennedy disease 8B61.4 Orphanet 481 TPD-EVT8K4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EVT8K4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EVT8K4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EVUJOH Noonan syndrome LD2F.15 Orphanet 648 TPD-EVUJOH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EVUJOH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EVUJOH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EVUJOH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EVUJOH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EVUJOH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EVUJOH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EVUJOH Craniopharyngioma 2F9A Orphanet 54595 TPD-EVUJOH Cushing disease 5A70.0 Orphanet 96253 TPD-EVW6YM Noonan syndrome LD2F.15 Orphanet 648 TPD-EVW6YM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EVW6YM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EVW6YM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EVW6YM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EVW6YM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EVW6YM Lynch syndrome 2B90.Y Orphanet 144 TPD-EVW6YM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EVW6YM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EW05DO Noonan syndrome LD2F.15 Orphanet 648 TPD-EW05DO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EW05DO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EW05DO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EW05DO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EW05DO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EW05DO Lynch syndrome 2B90.Y Orphanet 144 TPD-EW05DO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EW05DO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EW2TQG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EW2TQG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EW2TQG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EW7Q8V Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EW7Q8V Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EW81HV Noonan syndrome LD2F.15 Orphanet 648 TPD-EW81HV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EW81HV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EW81HV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EW81HV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EW81HV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EW81HV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EW81HV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EW81HV Craniopharyngioma 2F9A Orphanet 54595 TPD-EW81HV Cushing disease 5A70.0 Orphanet 96253 TPD-EWA2CK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EWA2CK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EWA2CK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EWB0FH Familial melanoma QC61.Y Orphanet 618 TPD-EWB0FH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EWBJVK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EWC4QY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-EWJBIO Familial melanoma QC61.Y Orphanet 618 TPD-EWJBIO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EWJOFX Noonan syndrome LD2F.15 Orphanet 648 TPD-EWJOFX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EWJOFX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EWJOFX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EWJOFX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EWJOFX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EWJOFX Lynch syndrome 2B90.Y Orphanet 144 TPD-EWJOFX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EWJOFX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EWKN8W Kennedy disease 8B61.4 Orphanet 481 TPD-EWKN8W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EWKN8W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EWKN8W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EWLHSL Kennedy disease 8B61.4 Orphanet 481 TPD-EWLHSL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EWLHSL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EWLHSL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EWMBMH Noonan syndrome LD2F.15 Orphanet 648 TPD-EWMBMH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EWMBMH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EWMBMH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EWMBMH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EWMBMH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EWMBMH Lynch syndrome 2B90.Y Orphanet 144 TPD-EWMBMH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EWMBMH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EWPSMG Familial melanoma QC61.Y Orphanet 618 TPD-EWPSMG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EWS7G9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EWSR5G Kennedy disease 8B61.4 Orphanet 481 TPD-EWSR5G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EWSR5G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EWSR5G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EWX4QK Kennedy disease 8B61.4 Orphanet 481 TPD-EWX4QK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EWX4QK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EWX4QK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EWXDAI Kennedy disease 8B61.4 Orphanet 481 TPD-EWXDAI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EWXDAI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EWXDAI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EWY4YX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EX63RO Noonan syndrome LD2F.15 Orphanet 648 TPD-EX63RO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EX63RO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EX63RO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EX63RO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EX63RO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EX63RO Lynch syndrome 2B90.Y Orphanet 144 TPD-EX63RO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EX63RO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EX6FM4 Kennedy disease 8B61.4 Orphanet 481 TPD-EX6FM4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EX6FM4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EX6FM4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EX6LJM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EX6LJM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EX6TJE Kennedy disease 8B61.4 Orphanet 481 TPD-EX6TJE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EX6TJE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EX6TJE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EXATTH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-EXD7VH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EXD7VH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EXD7VH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EXD7VH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EXD7VH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EXD7VH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EXD7VH Semantic dementia 6D83 Orphanet 100069 TPD-EXD7VH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EXDB9F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-EXDB9F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-EXDI8Z Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-EXFS0Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EXL9LW Kennedy disease 8B61.4 Orphanet 481 TPD-EXL9LW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EXL9LW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EXL9LW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EXLOOA Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-EXLOOA Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-EXLOOA Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-EXLOOA Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-EXLOOA Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-EXLOOA Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-EXLOOA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EXLOOA Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-EXLOOA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-EXN24A Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EXPH3C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EXPH3C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EXVQ04 Noonan syndrome LD2F.15 Orphanet 648 TPD-EXVQ04 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-EXXH28 Kennedy disease 8B61.4 Orphanet 481 TPD-EXXH28 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EXXH28 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EXXH28 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EY2KKO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EY2KKO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EY2KKO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EY3ZGZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EY3ZGZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EY4Q6W Familial melanoma QC61.Y Orphanet 618 TPD-EY4Q6W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-EY7IBG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EY7IBG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EY7IBG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EY7WRP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-EY7WRP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-EY9LTF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-EYBAUZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EYBAUZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EYBAUZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EYBAUZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EYCJEZ Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-EYF348 Noonan syndrome LD2F.15 Orphanet 648 TPD-EYF348 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EYF348 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EYF348 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EYF348 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EYF348 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EYF348 Lynch syndrome 2B90.Y Orphanet 144 TPD-EYF348 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EYF348 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EYJ6D9 Noonan syndrome LD2F.15 Orphanet 648 TPD-EYJ6D9 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-EYLQUD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EYLQUD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EYLYXB Kennedy disease 8B61.4 Orphanet 481 TPD-EYLYXB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EYLYXB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EYLYXB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EYMMOO Kennedy disease 8B61.4 Orphanet 481 TPD-EYMMOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EYMMOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EYMMOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EYNJXB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-EYNJXB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-EYO1GS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EYRX53 Kennedy disease 8B61.4 Orphanet 481 TPD-EYRX53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EYRX53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EYRX53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EYU3NW Noonan syndrome LD2F.15 Orphanet 648 TPD-EYU3NW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EYU3NW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EYU3NW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EYU3NW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EYU3NW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EYU3NW Lynch syndrome 2B90.Y Orphanet 144 TPD-EYU3NW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EYU3NW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EYYSOE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EYYSOE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EYYSOE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EYYSOE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EZ2Y6P Kennedy disease 8B61.4 Orphanet 481 TPD-EZ2Y6P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZ2Y6P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZ2Y6P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZ3ZN4 Kennedy disease 8B61.4 Orphanet 481 TPD-EZ3ZN4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZ3ZN4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZ3ZN4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZ4RJM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-EZ8EEE Noonan syndrome LD2F.15 Orphanet 648 TPD-EZ8EEE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-EZ8EEE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-EZ8EEE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EZ8EEE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EZ8EEE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-EZ8EEE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-EZ8EEE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-EZ8EEE Craniopharyngioma 2F9A Orphanet 54595 TPD-EZ8EEE Cushing disease 5A70.0 Orphanet 96253 TPD-EZ9H3L Kennedy disease 8B61.4 Orphanet 481 TPD-EZ9H3L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZ9H3L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZ9H3L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZAEKG Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-EZAEKG Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-EZAEKG Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-EZAEKG Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-EZAEKG Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-EZAEKG Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-EZAEKG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EZAEKG Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-EZAEKG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-EZBRRV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EZBRRV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EZBRRV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EZBRRV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EZBTZF Kennedy disease 8B61.4 Orphanet 481 TPD-EZBTZF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZBTZF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZBTZF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZCI8K Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-EZCI8K Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-EZCI8K Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-EZCI8K Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-EZCI8K Craniopharyngioma 2F9A Orphanet 54595 TPD-EZCI8K Pilomatrixoma 2F22 Orphanet 91414 TPD-EZCI8K Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-EZP0E6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EZP0E6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EZP0E6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EZP0E6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EZP0E6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EZP0E6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EZP0E6 Semantic dementia 6D83 Orphanet 100069 TPD-EZP0E6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-EZSGCO Kennedy disease 8B61.4 Orphanet 481 TPD-EZSGCO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZSGCO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZSGCO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZSHT3 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-EZTNUF Kennedy disease 8B61.4 Orphanet 481 TPD-EZTNUF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-EZTNUF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-EZTNUF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-EZU7UZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-EZU7UZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-EZU7UZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-EZUKJ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-EZUKJ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EZUKJ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EZUKJ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EZUKJ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EZUKJ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EZUKJ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-EZUKJ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EZUKJ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EZV37J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-EZV37J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-EZV37J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-EZV37J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-EZVJR3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-EZVJR3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-EZVJR3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-EZVJR3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-EZVJR3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-EZVJR3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-EZVJR3 Semantic dementia 6D83 Orphanet 100069 TPD-EZVJR3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-F03UDH Kennedy disease 8B61.4 Orphanet 481 TPD-F03UDH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F03UDH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F03UDH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F0587S Weaver syndrome LD2C Orphanet 3447 TPD-F05B4K Noonan syndrome LD2F.15 Orphanet 648 TPD-F05B4K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F05B4K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F05B4K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F05B4K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F05B4K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F05B4K Lynch syndrome 2B90.Y Orphanet 144 TPD-F05B4K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F05B4K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F070EJ Kennedy disease 8B61.4 Orphanet 481 TPD-F070EJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F070EJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F070EJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F0BGIC Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-F0BGIC Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-F0BPKZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F0DTUY Kennedy disease 8B61.4 Orphanet 481 TPD-F0DTUY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F0DTUY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F0DTUY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F0KOL0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F0KOL0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F0KOL0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F0KOL0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F0O6MQ Kennedy disease 8B61.4 Orphanet 481 TPD-F0O6MQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F0O6MQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F0O6MQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F0TNTL Familial melanoma QC61.Y Orphanet 618 TPD-F0TNTL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F0TXED Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F0TXED Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F0TXED Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F0U53B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F0U53B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F0U53B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F0U53B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F0UDJQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F0VA1Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F0VA1Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F0VA1Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F0VT42 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F0VT42 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F0X0XS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F0X0XS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-F10L8Z Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-F11IP6 Noonan syndrome LD2F.15 Orphanet 648 TPD-F11IP6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-F11IP6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-F11IP6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F11IP6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F11IP6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-F11IP6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-F11IP6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-F11IP6 Craniopharyngioma 2F9A Orphanet 54595 TPD-F11IP6 Cushing disease 5A70.0 Orphanet 96253 TPD-F120W4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F147W2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F147W2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F147W2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F16ZS4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-F16ZS4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-F16ZS4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-F16ZS4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-F16ZS4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-F16ZS4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-F16ZS4 Semantic dementia 6D83 Orphanet 100069 TPD-F16ZS4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-F1E5KR Noonan syndrome LD2F.15 Orphanet 648 TPD-F1E5KR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F1E5KR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F1E5KR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F1E5KR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F1E5KR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F1E5KR Lynch syndrome 2B90.Y Orphanet 144 TPD-F1E5KR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F1E5KR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F1NLKE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F1NMOS Noonan syndrome LD2F.15 Orphanet 648 TPD-F1NMOS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F1NMOS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F1NMOS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F1NMOS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F1NMOS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F1NMOS Lynch syndrome 2B90.Y Orphanet 144 TPD-F1NMOS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F1NMOS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F1NURR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F1NURR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F1NURR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F1P50P Noonan syndrome LD2F.15 Orphanet 648 TPD-F1P50P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F1P50P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F1P50P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F1P50P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F1P50P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F1P50P Lynch syndrome 2B90.Y Orphanet 144 TPD-F1P50P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F1P50P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F1PCHV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-F1PCHV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-F1PCHV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-F1PCHV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-F1PCHV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-F1PCHV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-F1PCHV Semantic dementia 6D83 Orphanet 100069 TPD-F1PCHV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-F1PEX3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F1S9AI Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-F1T6S1 Kennedy disease 8B61.4 Orphanet 481 TPD-F1T6S1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F1T6S1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F1T6S1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F20JY7 Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-F20NC8 Noonan syndrome LD2F.15 Orphanet 648 TPD-F20NC8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F20NC8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F20NC8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F20NC8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F20NC8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F20NC8 Lynch syndrome 2B90.Y Orphanet 144 TPD-F20NC8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F20NC8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F25PDQ Familial melanoma QC61.Y Orphanet 618 TPD-F25PDQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F26EYX Familial melanoma QC61.Y Orphanet 618 TPD-F26EYX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F26YV7 Pulmonary capillary hemangiomatosis BB01.0 Orphanet 199241 TPD-F26YV7 Heritable pulmonary arterial hypertension BB01.0 Orphanet 275777 TPD-F26YV7 Pulmonary venoocclusive disease BB01.0 Orphanet 31837 TPD-F26YV7 Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-F2CQUX Kennedy disease 8B61.4 Orphanet 481 TPD-F2CQUX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F2CQUX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F2CQUX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F2EBIC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F2EBIC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F2EBIC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F2EBIC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F2J5V7 Noonan syndrome LD2F.15 Orphanet 648 TPD-F2J5V7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F2J5V7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F2J5V7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F2J5V7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F2J5V7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F2J5V7 Lynch syndrome 2B90.Y Orphanet 144 TPD-F2J5V7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F2J5V7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F2LUTR Noonan syndrome LD2F.15 Orphanet 648 TPD-F2LUTR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F2LUTR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F2LUTR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F2LUTR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F2LUTR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F2LUTR Lynch syndrome 2B90.Y Orphanet 144 TPD-F2LUTR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F2LUTR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F2MT5K Kennedy disease 8B61.4 Orphanet 481 TPD-F2MT5K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F2MT5K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F2MT5K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F2TK3A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F2UC7X Noonan syndrome LD2F.15 Orphanet 648 TPD-F2UC7X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F2UC7X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F2UC7X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F2UC7X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F2UC7X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F2UC7X Lynch syndrome 2B90.Y Orphanet 144 TPD-F2UC7X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F2UC7X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F2VJFT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F2VJFT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F2VJFT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F2VJFT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F30VOS Familial melanoma QC61.Y Orphanet 618 TPD-F30VOS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F33XTB Noonan syndrome LD2F.15 Orphanet 648 TPD-F33XTB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F33XTB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F33XTB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F33XTB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F33XTB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F33XTB Lynch syndrome 2B90.Y Orphanet 144 TPD-F33XTB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F33XTB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F38UGC Kennedy disease 8B61.4 Orphanet 481 TPD-F38UGC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F38UGC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F38UGC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F3C7WG Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-F3C7WG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F3C7WG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F3C7WG Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-F3C7WG Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-F3C7WG Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-F3C7WG Osteosarcoma 2B51 Orphanet 668 TPD-F3C7WG Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-F3C7WG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F3C7WG Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-F3C7WG Small cell lung cancer 2C25.1 Orphanet 70573 TPD-F3C7WG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F3C7WG Cushing disease 5A70.0 Orphanet 96253 TPD-F3C7WG Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-F3C7WG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F3H2B8 Noonan syndrome LD2F.15 Orphanet 648 TPD-F3H2B8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F3HQIS Noonan syndrome LD2F.15 Orphanet 648 TPD-F3HQIS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F3HQIS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F3HQIS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F3HQIS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F3HQIS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F3HQIS Lynch syndrome 2B90.Y Orphanet 144 TPD-F3HQIS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F3HQIS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F3PKHK Noonan syndrome LD2F.15 Orphanet 648 TPD-F3PKHK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F3PKHK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F3PKHK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F3PKHK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F3PKHK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F3PKHK Lynch syndrome 2B90.Y Orphanet 144 TPD-F3PKHK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F3PKHK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F3PMGW Burkitt lymphoma XH4KA9 Orphanet 543 TPD-F3PMGW Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-F3RV2B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F3SWD0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F3SWD0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F3SWD0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F3UCDC Familial melanoma QC61.Y Orphanet 618 TPD-F3UCDC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F3WR9N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-F438QA Kennedy disease 8B61.4 Orphanet 481 TPD-F438QA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F438QA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F438QA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F43UH4 Kennedy disease 8B61.4 Orphanet 481 TPD-F43UH4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F43UH4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F43UH4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F480F0 Kennedy disease 8B61.4 Orphanet 481 TPD-F480F0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F480F0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F480F0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F49OG3 Noonan syndrome LD2F.15 Orphanet 648 TPD-F49OG3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F49OG3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F49OG3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F49OG3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F49OG3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F49OG3 Lynch syndrome 2B90.Y Orphanet 144 TPD-F49OG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F49OG3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F49VTP Kennedy disease 8B61.4 Orphanet 481 TPD-F49VTP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F49VTP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F49VTP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F4ANSA Noonan syndrome LD2F.15 Orphanet 648 TPD-F4ANSA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-F4ANSA Metachondromatosis LD24.2Y Orphanet 2499 TPD-F4ANSA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F4B5G2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F4BVIY Familial melanoma QC61.Y Orphanet 618 TPD-F4BVIY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F4FVY6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-F4FVY6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-F4HJL6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-F4HJL6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-F4KF61 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F4KF61 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-F4KRH8 Noonan syndrome LD2F.15 Orphanet 648 TPD-F4KRH8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F4M7CY Noonan syndrome LD2F.15 Orphanet 648 TPD-F4M7CY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F4M7CY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F4M7CY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F4M7CY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F4M7CY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F4M7CY Lynch syndrome 2B90.Y Orphanet 144 TPD-F4M7CY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F4M7CY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F4OZ7O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F4OZ7O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F4OZ7O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F4SCN6 Noonan syndrome LD2F.15 Orphanet 648 TPD-F4SCN6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F4SCN6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F4SCN6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F4SCN6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F4SCN6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F4SCN6 Lynch syndrome 2B90.Y Orphanet 144 TPD-F4SCN6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F4SCN6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F4UCUJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F4UCUJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F4UCUJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F4UVO0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F4VHIP Kennedy disease 8B61.4 Orphanet 481 TPD-F4VHIP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F4VHIP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F4VHIP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F4X1X5 Noonan syndrome LD2F.15 Orphanet 648 TPD-F4X1X5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F4X1X5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F4X1X5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F4X1X5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F4X1X5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F4X1X5 Lynch syndrome 2B90.Y Orphanet 144 TPD-F4X1X5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F4X1X5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F4X21C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F4X21C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F4X21C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F4X5MA Kennedy disease 8B61.4 Orphanet 481 TPD-F4X5MA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F4X5MA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F4X5MA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F501TQ Noonan syndrome LD2F.15 Orphanet 648 TPD-F501TQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F501TQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F501TQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F501TQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F501TQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F501TQ Lynch syndrome 2B90.Y Orphanet 144 TPD-F501TQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F501TQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F501UL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-F501UL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-F50E8M Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-F51JY9 Kennedy disease 8B61.4 Orphanet 481 TPD-F51JY9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F51JY9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F51JY9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F57F9D Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-F57PLA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F57PLA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F57PLA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F57VUM Kennedy disease 8B61.4 Orphanet 481 TPD-F57VUM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F57VUM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F57VUM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F5860X Noonan syndrome LD2F.15 Orphanet 648 TPD-F5860X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F5860X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F5860X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F5860X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F5860X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F5860X Lynch syndrome 2B90.Y Orphanet 144 TPD-F5860X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F5860X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F5AQKT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-F5AQKT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-F5D9QE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-F5D9QE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-F5FFJ9 Kennedy disease 8B61.4 Orphanet 481 TPD-F5FFJ9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F5FFJ9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F5FFJ9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F5I5OF Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-F5KA1S Noonan syndrome LD2F.15 Orphanet 648 TPD-F5KA1S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F5KA1S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F5KA1S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F5KA1S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F5KA1S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F5KA1S Lynch syndrome 2B90.Y Orphanet 144 TPD-F5KA1S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F5KA1S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F5KRXM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-F5LAAI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F5O3TM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F5O3TM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F5OF4N Noonan syndrome LD2F.15 Orphanet 648 TPD-F5OF4N Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F5Q76I Noonan syndrome LD2F.15 Orphanet 648 TPD-F5Q76I Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F5UQ3V Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-F5VH0L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F5VH0L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F5VH0L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F5VH0L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F5W02X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-F5W02X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-F5W89Z Noonan syndrome LD2F.15 Orphanet 648 TPD-F5W89Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F5W89Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F5W89Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F5W89Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F5W89Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F5W89Z Lynch syndrome 2B90.Y Orphanet 144 TPD-F5W89Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F5W89Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F5XOPW Kennedy disease 8B61.4 Orphanet 481 TPD-F5XOPW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F5XOPW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F5XOPW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F5YZTJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F5YZTJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F5YZTJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F5ZXFC Noonan syndrome LD2F.15 Orphanet 648 TPD-F5ZXFC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F5ZXFC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F5ZXFC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F5ZXFC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F5ZXFC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F5ZXFC Lynch syndrome 2B90.Y Orphanet 144 TPD-F5ZXFC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F5ZXFC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F608B9 Huntington disease 8A01.10 Orphanet 399 TPD-F60FNW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F60FNW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F60FNW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F69RQ7 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-F6ER55 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-F6ER55 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-F6ER55 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-F6ER55 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-F6ER55 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-F6ER55 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-F6ER55 Semantic dementia 6D83 Orphanet 100069 TPD-F6ER55 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-F6GS1A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F6GS1A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F6GS1A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F6GS1A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F6HIEG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F6N1DS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F6N1DS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F6N1DS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F6N1DS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F6O6AD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F6PH2K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F6PH2K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-F6TQUM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F6UCKS Kennedy disease 8B61.4 Orphanet 481 TPD-F6UCKS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F6UCKS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F6UCKS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F6VOXJ Familial melanoma QC61.Y Orphanet 618 TPD-F6YBMX Kennedy disease 8B61.4 Orphanet 481 TPD-F6YBMX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F6YBMX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F6YBMX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F70OGS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F72QI6 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-F79MZZ Noonan syndrome LD2F.15 Orphanet 648 TPD-F79MZZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-F79MZZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-F79MZZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F79MZZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F79MZZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-F79MZZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-F79MZZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-F79MZZ Craniopharyngioma 2F9A Orphanet 54595 TPD-F79MZZ Cushing disease 5A70.0 Orphanet 96253 TPD-F7AR70 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F7AR70 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F7AR70 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F7BFOD Noonan syndrome LD2F.15 Orphanet 648 TPD-F7BFOD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-F7BFOD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-F7BFOD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-F7BFOD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-F7BFOD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-F7BFOD Lynch syndrome 2B90.Y Orphanet 144 TPD-F7BFOD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-F7BFOD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F7DPZZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F7EA04 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-F7EUUB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-F7FIFO Kennedy disease 8B61.4 Orphanet 481 TPD-F7FIFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F7FIFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F7FIFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F7GA9T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F7GA9T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-F7HJVH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-F7IBOZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F7IBOZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F7IBOZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F7MKXX Kennedy disease 8B61.4 Orphanet 481 TPD-F7MKXX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F7MKXX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F7MKXX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F7MLC1 Kennedy disease 8B61.4 Orphanet 481 TPD-F7MLC1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F7MLC1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F7MLC1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F7OT09 Familial melanoma QC61.Y Orphanet 618 TPD-F7OT09 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F7OZXS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F7PN3J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F7PN3J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F7T33C Kennedy disease 8B61.4 Orphanet 481 TPD-F7T33C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F7T33C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F7T33C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F7UAFK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F7UAFK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F7UAFK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F7Y9RO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-F7Y9RO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-F7Y9RO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F7Y9RO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-F7ZGBQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F7ZZC4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F7ZZC4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F7ZZC4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F80AZM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F80AZM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F80AZM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F82ET8 Kennedy disease 8B61.4 Orphanet 481 TPD-F82ET8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F82ET8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F82ET8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F84VOJ Kennedy disease 8B61.4 Orphanet 481 TPD-F84VOJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F84VOJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F84VOJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F8BEWG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F8BONO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F8BONO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F8BONO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F8FKH8 Familial melanoma QC61.Y Orphanet 618 TPD-F8FKH8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-F8KYFI Noonan syndrome LD2F.15 Orphanet 648 TPD-F8KYFI Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F8MMFM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F8MMFM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F8MMFM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F8N64E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F8N64E Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F8N64E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F8NU9I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F8PAMT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F8PAMT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F8PAMT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F8U15J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F8U8P5 Kennedy disease 8B61.4 Orphanet 481 TPD-F8U8P5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F8U8P5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F8U8P5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F8WPER Kennedy disease 8B61.4 Orphanet 481 TPD-F8WPER Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F8WPER Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F8WPER Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F90WW8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F94EFJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F94EFJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F94EFJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F9B834 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-F9B834 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-F9BS64 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F9FHGQ Kennedy disease 8B61.4 Orphanet 481 TPD-F9FHGQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F9FHGQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F9FHGQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F9G9GI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F9GE21 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-F9H2ZQ Kennedy disease 8B61.4 Orphanet 481 TPD-F9H2ZQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-F9H2ZQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-F9H2ZQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-F9IRKQ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-F9IRKQ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-F9IRKQ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-F9IRKQ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-F9IRKQ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-F9IRKQ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-F9IRKQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-F9IRKQ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-F9IRKQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-F9IXT3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-F9JHWF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-F9LL99 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-F9LL99 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-F9LL99 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-F9OBWF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-F9OBWF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-F9OBWF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-F9QT19 Noonan syndrome LD2F.15 Orphanet 648 TPD-F9QT19 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-F9TI52 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FA0DS3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FA0DS3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FA1TSL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FA1TSL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FA2EUQ Noonan syndrome LD2F.15 Orphanet 648 TPD-FA2EUQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FA2EUQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FA2EUQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FA2EUQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FA2EUQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FA2EUQ Lynch syndrome 2B90.Y Orphanet 144 TPD-FA2EUQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FA2EUQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FA59K3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FA59K3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FA59K3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FA59K3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FA59K3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FA59K3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FA59K3 Semantic dementia 6D83 Orphanet 100069 TPD-FA59K3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FA6MM1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FA6MM1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FA6MM1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FA6MM1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FA6MM1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FA6MM1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FA6MM1 Semantic dementia 6D83 Orphanet 100069 TPD-FA6MM1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FA8YFC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FA8YFC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FA9BG5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FA9BG5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FA9BG5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FAA9U5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FADAWK Familial melanoma QC61.Y Orphanet 618 TPD-FADAWK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FAGXEM Noonan syndrome LD2F.15 Orphanet 648 TPD-FAGXEM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FAGXEM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FAGXEM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FAGXEM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FAGXEM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FAGXEM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FAGXEM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FAGXEM Craniopharyngioma 2F9A Orphanet 54595 TPD-FAGXEM Cushing disease 5A70.0 Orphanet 96253 TPD-FAK1HS Kennedy disease 8B61.4 Orphanet 481 TPD-FAK1HS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FAK1HS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FAK1HS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FAKESI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FASD1Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FASD1Z Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FASD1Z Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FASD1Z Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FASD1Z Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FASD1Z Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FASD1Z Semantic dementia 6D83 Orphanet 100069 TPD-FASD1Z Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FAUNPN Noonan syndrome LD2F.15 Orphanet 648 TPD-FAUNPN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FAUNPN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FAUNPN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FAUNPN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FAUNPN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FAUNPN Lynch syndrome 2B90.Y Orphanet 144 TPD-FAUNPN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FAUNPN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FAVOB6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FAXRO7 Kennedy disease 8B61.4 Orphanet 481 TPD-FAXRO7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FAXRO7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FAXRO7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FB01AJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FB01AJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FB07LU Familial melanoma QC61.Y Orphanet 618 TPD-FB07LU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FB0QKP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FB0QKP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FB37N1 Kennedy disease 8B61.4 Orphanet 481 TPD-FB37N1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FB37N1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FB37N1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FB3Z8S Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-FB58WE Noonan syndrome LD2F.15 Orphanet 648 TPD-FB58WE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FB58WE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FB58WE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FB58WE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FB58WE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FB58WE Lynch syndrome 2B90.Y Orphanet 144 TPD-FB58WE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FB58WE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FB778C Noonan syndrome LD2F.15 Orphanet 648 TPD-FB778C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FB778C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FB778C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FB778C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FB778C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FB778C Lynch syndrome 2B90.Y Orphanet 144 TPD-FB778C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FB778C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FB7GRJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FB7GRJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FB7GRJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FB7GRJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FB7GRJ Neuroblastoma 2A00.11 Orphanet 635 TPD-FB7GRJ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-FB7GRJ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-FB7GRJ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-FB7GRJ Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-FB7SW1 Familial melanoma QC61.Y Orphanet 618 TPD-FB7SW1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FB8YA4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FB8YA4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FB8YA4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FBBGQ7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FBBGQ7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FBBGQ7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FBBGQ7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FBBO1B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FBH3OH Noonan syndrome LD2F.15 Orphanet 648 TPD-FBH3OH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FBH3OH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FBH3OH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FBH3OH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FBH3OH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FBH3OH Lynch syndrome 2B90.Y Orphanet 144 TPD-FBH3OH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FBH3OH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FBIGBX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FBMWBB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FBMWBB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FBMWBB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FBMWBB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FBRZ0L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FBRZ0L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FBRZ0L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FBTCVM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FBWFT4 Kennedy disease 8B61.4 Orphanet 481 TPD-FBWFT4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FBWFT4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FBWFT4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FC1M70 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FC1M70 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FC1M70 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FC1M70 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FC2P4O Noonan syndrome LD2F.15 Orphanet 648 TPD-FC2P4O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FC2P4O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FC2P4O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FC2P4O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FC2P4O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FC2P4O Lynch syndrome 2B90.Y Orphanet 144 TPD-FC2P4O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FC2P4O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FC34HC Kennedy disease 8B61.4 Orphanet 481 TPD-FC34HC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FC34HC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FC34HC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FC634U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FC6IPX Kennedy disease 8B61.4 Orphanet 481 TPD-FC6IPX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FC6IPX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FC6IPX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FC6JQP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FC6JQP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FC6JQP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FC6JQP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FC6ZSO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FC822N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FC8OVC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FC9NKO Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FC9NKO Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FC9NKO Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FC9NKO Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FC9NKO Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FC9NKO Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FC9NKO Semantic dementia 6D83 Orphanet 100069 TPD-FC9NKO Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FCBTA4 Noonan syndrome LD2F.15 Orphanet 648 TPD-FCBTA4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FCBTA4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FCBTA4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FCBTA4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FCBTA4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FCBTA4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FCBTA4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FCBTA4 Craniopharyngioma 2F9A Orphanet 54595 TPD-FCBTA4 Cushing disease 5A70.0 Orphanet 96253 TPD-FCBUOW Noonan syndrome LD2F.15 Orphanet 648 TPD-FCBUOW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FCBUOW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FCBUOW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FCBUOW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FCBUOW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FCBUOW Lynch syndrome 2B90.Y Orphanet 144 TPD-FCBUOW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FCBUOW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FCFX7J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FCFX7J Neuroblastoma 2A00.11 Orphanet 635 TPD-FCFX7J Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-FCFX7J ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-FCFX7J ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-FCJCLK Kennedy disease 8B61.4 Orphanet 481 TPD-FCJCLK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FCJCLK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FCJCLK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FCJEEQ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FCJEEQ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FCJEEQ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FCJEEQ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FCJEEQ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FCJEEQ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FCJEEQ Semantic dementia 6D83 Orphanet 100069 TPD-FCJEEQ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FCKU8I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FCKVJ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-FCKVJ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FCKVJ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FCKVJ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FCKVJ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FCKVJ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FCKVJ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-FCKVJ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FCKVJ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FCP2GR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FCP2GR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FCP2GR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FCP2GR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FCTEBM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FCTEBM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FCVFJ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-FCVFJ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FCVFJ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FCVFJ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FCVFJ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FCVFJ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FCVFJ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-FCVFJ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FCVFJ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FD474I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FD474I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FD6EDN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FD6YGS Familial melanoma QC61.Y Orphanet 618 TPD-FD6YGS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FD8BM9 Kennedy disease 8B61.4 Orphanet 481 TPD-FD8BM9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FD8BM9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FD8BM9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FD9LPS Kennedy disease 8B61.4 Orphanet 481 TPD-FD9LPS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FD9LPS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FD9LPS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FDA5UF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FDA5UF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FDCWNM Kennedy disease 8B61.4 Orphanet 481 TPD-FDCWNM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FDCWNM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FDCWNM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FDE2TP Noonan syndrome LD2F.15 Orphanet 648 TPD-FDE2TP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FDE2TP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FDE2TP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FDE2TP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FDE2TP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FDE2TP Lynch syndrome 2B90.Y Orphanet 144 TPD-FDE2TP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FDE2TP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FDFPPM Weaver syndrome LD2C Orphanet 3447 TPD-FDKRO1 Kennedy disease 8B61.4 Orphanet 481 TPD-FDKRO1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FDKRO1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FDKRO1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FDLUA6 Noonan syndrome LD2F.15 Orphanet 648 TPD-FDLUA6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FDLUA6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FDLUA6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FDLUA6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FDLUA6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FDLUA6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FDLUA6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FDLUA6 Craniopharyngioma 2F9A Orphanet 54595 TPD-FDLUA6 Cushing disease 5A70.0 Orphanet 96253 TPD-FDQIL2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FDQIL2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FDQIL2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FDQP7S Kennedy disease 8B61.4 Orphanet 481 TPD-FDQP7S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FDQP7S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FDQP7S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FDRYH1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FDS5K6 Noonan syndrome LD2F.15 Orphanet 648 TPD-FDS5K6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FDS5K6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FDS5K6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FDS5K6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FDS5K6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FDS5K6 Lynch syndrome 2B90.Y Orphanet 144 TPD-FDS5K6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FDS5K6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FDUYJI Noonan syndrome LD2F.15 Orphanet 648 TPD-FDUYJI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FDUYJI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FDUYJI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FDUYJI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FDUYJI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FDUYJI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FDUYJI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FDUYJI Craniopharyngioma 2F9A Orphanet 54595 TPD-FDUYJI Cushing disease 5A70.0 Orphanet 96253 TPD-FDX0SL Kennedy disease 8B61.4 Orphanet 481 TPD-FDX0SL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FDX0SL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FDX0SL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FDY6VE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FDY6VE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FDY6VE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FDY6VE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FDZOPM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FDZOPM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FDZOPM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FE172G Familial melanoma QC61.Y Orphanet 618 TPD-FE172G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FE1BKU Familial melanoma QC61.Y Orphanet 618 TPD-FE1BKU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FE1H10 Kennedy disease 8B61.4 Orphanet 481 TPD-FE1H10 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FE1H10 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FE1H10 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FE2QCH Kennedy disease 8B61.4 Orphanet 481 TPD-FE2QCH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FE2QCH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FE2QCH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FE4X5T Kennedy disease 8B61.4 Orphanet 481 TPD-FE4X5T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FE4X5T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FE4X5T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FE59NA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FE72Z9 Noonan syndrome LD2F.15 Orphanet 648 TPD-FE72Z9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FE72Z9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FE72Z9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FE72Z9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FE72Z9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FE72Z9 Lynch syndrome 2B90.Y Orphanet 144 TPD-FE72Z9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FE72Z9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FE8BB1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FE8BB1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FE9B6W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FE9B6W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FEBIRJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FEBIRJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FECU4G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FECU4G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FECU4G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FEFED8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FEFED8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FEH949 Kennedy disease 8B61.4 Orphanet 481 TPD-FEH949 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FEH949 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FEH949 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FEJSIX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FEJSIX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FEJW9O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FEL2HF Kennedy disease 8B61.4 Orphanet 481 TPD-FEL2HF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FEL2HF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FEL2HF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FELZZD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FEVNKL Kennedy disease 8B61.4 Orphanet 481 TPD-FEVNKL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FEVNKL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FEVNKL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FEZE1I Kennedy disease 8B61.4 Orphanet 481 TPD-FEZE1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FEZE1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FEZE1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FEZGDI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FEZGDI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FEZGDI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FFCZO6 Kennedy disease 8B61.4 Orphanet 481 TPD-FFCZO6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FFCZO6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FFCZO6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FFEFZP Kennedy disease 8B61.4 Orphanet 481 TPD-FFEFZP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FFEFZP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FFEFZP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FFES7C Kennedy disease 8B61.4 Orphanet 481 TPD-FFES7C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FFES7C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FFES7C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FFG13V Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-FFG13V Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-FFG13V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FFG13V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FFG13V Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-FFG13V Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-FFGIUK Kennedy disease 8B61.4 Orphanet 481 TPD-FFGIUK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FFGIUK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FFGIUK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FFGRXR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FFH55M Noonan syndrome LD2F.15 Orphanet 648 TPD-FFH55M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FFH55M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FFH55M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FFH55M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FFH55M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FFH55M Lynch syndrome 2B90.Y Orphanet 144 TPD-FFH55M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FFH55M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FFLPC2 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FFLPC2 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FFQAFO Noonan syndrome LD2F.15 Orphanet 648 TPD-FFQAFO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FFQAFO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FFQAFO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FFQAFO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FFQAFO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FFQAFO Lynch syndrome 2B90.Y Orphanet 144 TPD-FFQAFO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FFQAFO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FFR1WJ Kennedy disease 8B61.4 Orphanet 481 TPD-FFR1WJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FFR1WJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FFR1WJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FFYCX3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FFYCX3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FFYCX3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FFYCX3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FG4SA5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FG4SA5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FG4SA5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FG4SA5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FG4SA5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FG4SA5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FG4SA5 Semantic dementia 6D83 Orphanet 100069 TPD-FG4SA5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FG5HNA Noonan syndrome LD2F.15 Orphanet 648 TPD-FG5HNA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FG5HNA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FG5HNA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FG5HNA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FG5HNA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FG5HNA Lynch syndrome 2B90.Y Orphanet 144 TPD-FG5HNA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FG5HNA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FG922D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FGB9UM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FGBVEA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FGBVEA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FGBVEA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FGCRLX Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-FGEXO7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FGFRQH Noonan syndrome LD2F.15 Orphanet 648 TPD-FGFRQH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FGFRQH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FGFRQH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FGFRQH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FGFRQH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FGFRQH Lynch syndrome 2B90.Y Orphanet 144 TPD-FGFRQH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FGFRQH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FGGXKN Kennedy disease 8B61.4 Orphanet 481 TPD-FGGXKN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FGGXKN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FGGXKN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FGH1BT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FGH1BT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FGMTWV Familial melanoma QC61.Y Orphanet 618 TPD-FGMTWV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FGNFJE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FGNFJE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FGP8LY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FGP8LY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FGQAF5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FGQAF5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FGQAF5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FGUPYA Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-FGV1YW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FGV1YW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FGV1YW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FGY037 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FGY037 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FGY037 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FGY037 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FH0WWR Burkitt lymphoma XH4KA9 Orphanet 543 TPD-FH0WWR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FH0WWR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FH0ZUX Noonan syndrome LD2F.15 Orphanet 648 TPD-FH0ZUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FH0ZUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FH0ZUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FH0ZUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FH0ZUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FH0ZUX Lynch syndrome 2B90.Y Orphanet 144 TPD-FH0ZUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FH0ZUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FH408O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FH408O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FH5HOZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FH5HOZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FH5LFC Kennedy disease 8B61.4 Orphanet 481 TPD-FH5LFC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FH5LFC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FH5LFC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FH6I5G Familial melanoma QC61.Y Orphanet 618 TPD-FH6I5G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FHFRN5 Kennedy disease 8B61.4 Orphanet 481 TPD-FHFRN5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FHFRN5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FHFRN5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FHGZRH Kennedy disease 8B61.4 Orphanet 481 TPD-FHGZRH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FHGZRH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FHGZRH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FHH3TU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FHH3TU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FHNVOR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FHNVOR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FHPSFG Kennedy disease 8B61.4 Orphanet 481 TPD-FHPSFG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FHPSFG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FHPSFG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FHRSFA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FHRSFA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FHRXDM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FHRXDM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FHRXDM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FHW662 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FHW662 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FHW662 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FHW662 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FHXRD4 Kennedy disease 8B61.4 Orphanet 481 TPD-FHXRD4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FHXRD4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FHXRD4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FI0ZZU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FI2JEZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FI2JEZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FI46PS Kennedy disease 8B61.4 Orphanet 481 TPD-FI46PS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FI46PS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FI46PS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FI5FQH Familial melanoma QC61.Y Orphanet 618 TPD-FI5FQH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FI8G56 Kennedy disease 8B61.4 Orphanet 481 TPD-FI8G56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FI8G56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FI8G56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FI8G56 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-FI8G56 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-FI8G56 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FI8G56 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-FI8LH1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FI8PMN Noonan syndrome LD2F.15 Orphanet 648 TPD-FI8PMN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FI8PMN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FI8PMN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FI8PMN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FI8PMN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FI8PMN Lynch syndrome 2B90.Y Orphanet 144 TPD-FI8PMN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FI8PMN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FIA5CW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FIKJ15 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FIKJ15 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FIKJ15 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FILG0P Kennedy disease 8B61.4 Orphanet 481 TPD-FILG0P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FILG0P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FILG0P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FINO6K Burkitt lymphoma XH4KA9 Orphanet 543 TPD-FINO6K Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FIT8PY Noonan syndrome LD2F.15 Orphanet 648 TPD-FIT8PY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FIT8PY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FIT8PY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FIT8PY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FIT8PY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FIT8PY Lynch syndrome 2B90.Y Orphanet 144 TPD-FIT8PY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FIT8PY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FITZE7 Noonan syndrome LD2F.15 Orphanet 648 TPD-FITZE7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FITZE7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FITZE7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FITZE7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FITZE7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FITZE7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FITZE7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FITZE7 Craniopharyngioma 2F9A Orphanet 54595 TPD-FITZE7 Cushing disease 5A70.0 Orphanet 96253 TPD-FIWO8Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FIWO8Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FIWUUY Noonan syndrome LD2F.15 Orphanet 648 TPD-FIWUUY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-FIXKGY Noonan syndrome LD2F.15 Orphanet 648 TPD-FIXKGY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-FJ1GFF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FJ6K7B Familial melanoma QC61.Y Orphanet 618 TPD-FJ6K7B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FJC0LO Kennedy disease 8B61.4 Orphanet 481 TPD-FJC0LO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FJC0LO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FJC0LO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FJD7FK Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-FJD7FK Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FJEBEW Kennedy disease 8B61.4 Orphanet 481 TPD-FJEBEW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FJEBEW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FJEBEW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FJGBJH Noonan syndrome LD2F.15 Orphanet 648 TPD-FJGBJH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FJGBJH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FJGBJH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FJGBJH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FJGBJH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FJGBJH Lynch syndrome 2B90.Y Orphanet 144 TPD-FJGBJH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FJGBJH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FJHZ3P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FJIIQD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FJIIQD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FJIIQD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FJJPY5 Noonan syndrome LD2F.15 Orphanet 648 TPD-FJJPY5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FJJPY5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FJJPY5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FJJPY5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FJJPY5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FJJPY5 Lynch syndrome 2B90.Y Orphanet 144 TPD-FJJPY5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FJJPY5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FJN1DQ Noonan syndrome LD2F.15 Orphanet 648 TPD-FJN1DQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FJN1DQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FJN1DQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FJN1DQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FJN1DQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FJN1DQ Lynch syndrome 2B90.Y Orphanet 144 TPD-FJN1DQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FJN1DQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FJRQU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-FJRQU1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FJRQU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FJRQU1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FJRQU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FJRQU1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FJRQU1 Lynch syndrome 2B90.Y Orphanet 144 TPD-FJRQU1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FJRQU1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FJT3TY Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-FJWNWI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FJWNWI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FJWNWI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FJWNWI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FJXM8G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FJXM8G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FJZ4T1 Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-FJZ4T1 Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-FJZ4T1 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-FJZ4T1 Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-FJZ4T1 Craniopharyngioma 2F9A Orphanet 54595 TPD-FJZ4T1 Pilomatrixoma 2F22 Orphanet 91414 TPD-FJZ4T1 Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-FK4QRQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FK6064 Noonan syndrome LD2F.15 Orphanet 648 TPD-FK6064 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FK6064 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FK6064 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FK6064 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FK6064 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FK6064 Lynch syndrome 2B90.Y Orphanet 144 TPD-FK6064 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FK6064 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FK89SZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FK89SZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FK89SZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FK8CE7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FK9AYI Noonan syndrome LD2F.15 Orphanet 648 TPD-FK9AYI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FK9AYI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FK9AYI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FK9AYI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FK9AYI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FK9AYI Lynch syndrome 2B90.Y Orphanet 144 TPD-FK9AYI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FK9AYI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FKB0F8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FKB0F8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FKB0F8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FKEHCI Noonan syndrome LD2F.15 Orphanet 648 TPD-FKEHCI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FKEHCI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FKEHCI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FKEHCI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FKEHCI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FKEHCI Lynch syndrome 2B90.Y Orphanet 144 TPD-FKEHCI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FKEHCI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FKEV1J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FKEV1J Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FKEV1J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FKHNKF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FKHNKF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FKHNKF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FKHNKF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FKHNKF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FKHNKF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FKHNKF Semantic dementia 6D83 Orphanet 100069 TPD-FKHNKF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FKM149 Noonan syndrome LD2F.15 Orphanet 648 TPD-FKM149 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FKM149 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FKM149 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FKM149 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FKM149 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FKM149 Lynch syndrome 2B90.Y Orphanet 144 TPD-FKM149 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FKM149 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FKPDVW Kennedy disease 8B61.4 Orphanet 481 TPD-FKPDVW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FKPDVW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FKPDVW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FKVRPO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FKVRPO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FKVRPO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FKWGPW Familial melanoma QC61.Y Orphanet 618 TPD-FKXGQ8 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-FKZ2JK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FKZ2JK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FKZ2JK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FL0OH8 Familial melanoma QC61.Y Orphanet 618 TPD-FL0OH8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FL0WCS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FL0WCS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FL0YKF Noonan syndrome LD2F.15 Orphanet 648 TPD-FL0YKF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FL0YKF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FL0YKF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FL0YKF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FL0YKF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FL0YKF Lynch syndrome 2B90.Y Orphanet 144 TPD-FL0YKF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FL0YKF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FL17UM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FL17UM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FL17UM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FL20ZH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FL20ZH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FL20ZH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FL20ZH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FL383T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FL383T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FLB22X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FLBKNT Noonan syndrome LD2F.15 Orphanet 648 TPD-FLBKNT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FLBKNT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FLBKNT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FLBKNT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FLBKNT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FLBKNT Lynch syndrome 2B90.Y Orphanet 144 TPD-FLBKNT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FLBKNT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FLDPTT Familial melanoma QC61.Y Orphanet 618 TPD-FLDPTT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FLE5MM Kennedy disease 8B61.4 Orphanet 481 TPD-FLE5MM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FLE5MM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FLE5MM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FLEBBM Noonan syndrome LD2F.15 Orphanet 648 TPD-FLEBBM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-FLHX0V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FLHX0V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FLHX0V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FLI6SJ Noonan syndrome LD2F.15 Orphanet 648 TPD-FLI6SJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FLI6SJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FLI6SJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FLI6SJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FLI6SJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FLI6SJ Lynch syndrome 2B90.Y Orphanet 144 TPD-FLI6SJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FLI6SJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FLIPPC Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-FLIPPC Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-FLIPPC Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-FLIPPC Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-FLIPPC Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-FLIPPC Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-FLIPPC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FLIPPC Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-FLIPPC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FLL5HC Noonan syndrome LD2F.15 Orphanet 648 TPD-FLL5HC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FLL5HC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FLL5HC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FLL5HC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FLL5HC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FLL5HC Lynch syndrome 2B90.Y Orphanet 144 TPD-FLL5HC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FLL5HC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FLMX03 Kennedy disease 8B61.4 Orphanet 481 TPD-FLMX03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FLMX03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FLMX03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FLN5VT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FLNNNN Kennedy disease 8B61.4 Orphanet 481 TPD-FLNNNN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FLNNNN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FLNNNN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FLR1VB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FLR1VB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FLR7M4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FLR7M4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FLWQ24 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FLWQ24 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FLZ93D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FLZDB8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FLZDB8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FM058I Familial melanoma QC61.Y Orphanet 618 TPD-FM058I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FM45P1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FM4P9I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FM6DII Familial melanoma QC61.Y Orphanet 618 TPD-FM6DII Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FM8H26 Noonan syndrome LD2F.15 Orphanet 648 TPD-FM8H26 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FM8H26 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FM8H26 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FM8H26 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FM8H26 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FM8H26 Lynch syndrome 2B90.Y Orphanet 144 TPD-FM8H26 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FM8H26 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FM9C5Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FM9C5Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FM9C5Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FMDCN2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FMDCN2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FMDCN2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FMDCN2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FMK58A Noonan syndrome LD2F.15 Orphanet 648 TPD-FMK58A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FMK58A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FMK58A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FMK58A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FMK58A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FMK58A Lynch syndrome 2B90.Y Orphanet 144 TPD-FMK58A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FMK58A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FMKB82 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FMLHE9 Noonan syndrome LD2F.15 Orphanet 648 TPD-FMLHE9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FMLHE9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FMLHE9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FMLHE9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FMLHE9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FMLHE9 Lynch syndrome 2B90.Y Orphanet 144 TPD-FMLHE9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FMLHE9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FMM4S6 Noonan syndrome LD2F.15 Orphanet 648 TPD-FMM4S6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FMM4S6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FMM4S6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FMM4S6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FMM4S6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FMM4S6 Lynch syndrome 2B90.Y Orphanet 144 TPD-FMM4S6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FMM4S6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FMQYNI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FMQYNI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FMQYNI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FMSJUH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FMSJUH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FMSJUH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FMSJUH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FMSLYZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FMSLYZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FMTR83 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FMVYY7 Noonan syndrome LD2F.15 Orphanet 648 TPD-FMVYY7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FMVYY7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FMVYY7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FMVYY7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FMVYY7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FMVYY7 Lynch syndrome 2B90.Y Orphanet 144 TPD-FMVYY7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FMVYY7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FMW3Y1 Kennedy disease 8B61.4 Orphanet 481 TPD-FMW3Y1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FMW3Y1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FMW3Y1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FMYIFD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FMYIFD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FMYIFD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FN11FF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FN2E1W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FN5NM8 Kennedy disease 8B61.4 Orphanet 481 TPD-FN5NM8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FN5NM8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FN5NM8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FN69NU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FN6HTR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FNCYSG Kennedy disease 8B61.4 Orphanet 481 TPD-FNCYSG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FNCYSG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FNCYSG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FND7XH Familial melanoma QC61.Y Orphanet 618 TPD-FNEPMF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FNHVUJ Kennedy disease 8B61.4 Orphanet 481 TPD-FNHVUJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FNHVUJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FNHVUJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FNIN83 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FNLK21 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FNLK21 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FNLK21 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FNLK21 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FNLK21 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FNLK21 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FNLK21 Semantic dementia 6D83 Orphanet 100069 TPD-FNLK21 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FNQCQL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FNQCQL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FNQCQL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FNRZEF Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-FNTD9F Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FNTJ80 Kennedy disease 8B61.4 Orphanet 481 TPD-FNTJ80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FNTJ80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FNTJ80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FNUAYP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FNXEQL Kennedy disease 8B61.4 Orphanet 481 TPD-FNXEQL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FNXEQL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FNXEQL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FO670T Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FO8E4W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FOEAJB Familial melanoma QC61.Y Orphanet 618 TPD-FOEAJB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FOJ3DU Kennedy disease 8B61.4 Orphanet 481 TPD-FOJ3DU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FOJ3DU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FOJ3DU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FOKUYO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FOLVIC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FOPI0N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FOPI0N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FOQ45G Kennedy disease 8B61.4 Orphanet 481 TPD-FOQ45G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FOQ45G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FOQ45G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FOS5BN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FOS5BN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FOS5BN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FOTXTV Kennedy disease 8B61.4 Orphanet 481 TPD-FOTXTV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FOTXTV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FOTXTV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FOTZH6 Kennedy disease 8B61.4 Orphanet 481 TPD-FOTZH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FOTZH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FOTZH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FOUTHX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FOUTHX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FOUTHX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FOUTHX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FOZLVN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FOZLVN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FOZLVN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FOZLVN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FP3H5S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FP3H5S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FP3H5S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FP3ZLQ Kennedy disease 8B61.4 Orphanet 481 TPD-FP3ZLQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FP3ZLQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FP3ZLQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FP7RVG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FPABXZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FPEBFF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FPG6C1 Familial melanoma QC61.Y Orphanet 618 TPD-FPG6C1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FPH8YC Kennedy disease 8B61.4 Orphanet 481 TPD-FPH8YC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FPH8YC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FPH8YC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FPMBVE Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-FPMBVE Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-FPMBVE Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-FPOCU2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FPPIFT Kennedy disease 8B61.4 Orphanet 481 TPD-FPPIFT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FPPIFT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FPPIFT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FPPQFE Noonan syndrome LD2F.15 Orphanet 648 TPD-FPPQFE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FPPQFE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FPPQFE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FPPQFE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FPPQFE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FPPQFE Lynch syndrome 2B90.Y Orphanet 144 TPD-FPPQFE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FPPQFE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FPRGQM Familial melanoma QC61.Y Orphanet 618 TPD-FPRGQM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FPSUR3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FPSUR3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FPSUR3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FPSUR3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FPSUR3 Neuroblastoma 2A00.11 Orphanet 635 TPD-FPSUR3 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-FPSUR3 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-FPSUR3 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-FPSUR3 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-FPU1Q9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FPVGG4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FPVGG4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FPXO74 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FPXO74 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FPXO74 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FPYWAY Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-FPYWAY Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FQ06GO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FQ06GO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FQ1MTC Familial melanoma QC61.Y Orphanet 618 TPD-FQ5W0W Kennedy disease 8B61.4 Orphanet 481 TPD-FQ5W0W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FQ5W0W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FQ5W0W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FQAXS8 Familial melanoma QC61.Y Orphanet 618 TPD-FQAXS8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FQAZER Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FQAZER Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FQEVHO Kennedy disease 8B61.4 Orphanet 481 TPD-FQEVHO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FQEVHO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FQEVHO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FQI1I0 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FQI1I0 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FQJDEK Kennedy disease 8B61.4 Orphanet 481 TPD-FQJDEK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FQJDEK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FQJDEK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FQJEM5 Noonan syndrome LD2F.15 Orphanet 648 TPD-FQJEM5 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-FQLXFA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FQPLO0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FQWEX1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FR0V2A Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-FR0V2A Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-FR0V2A Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-FR0V2A Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-FR0V2A Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-FR0V2A Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-FR0V2A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FR0V2A Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-FR0V2A Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FR10OV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FR10OV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FR10OV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FR10OV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FR2EPP Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FR2HY8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FR2HY8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FR2HY8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FR2HY8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FR36E0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FR36E0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FR36E0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FR4LT3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FR4LT3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FR4LT3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FR7IH4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FR7IH4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FR7IH4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FRCSYL Noonan syndrome LD2F.15 Orphanet 648 TPD-FRCSYL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FRCSYL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FRCSYL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FRCSYL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FRCSYL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FRCSYL Lynch syndrome 2B90.Y Orphanet 144 TPD-FRCSYL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FRCSYL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FRDOGJ Noonan syndrome LD2F.15 Orphanet 648 TPD-FRDOGJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FRDOGJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FRDOGJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FRDOGJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FRDOGJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FRDOGJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FRDOGJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FRDOGJ Craniopharyngioma 2F9A Orphanet 54595 TPD-FRDOGJ Cushing disease 5A70.0 Orphanet 96253 TPD-FRE1SM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FRF58D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FRF58D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FRKOS1 Kennedy disease 8B61.4 Orphanet 481 TPD-FRKOS1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FRKOS1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FRKOS1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FRMDUL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FRPFGM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FRPFGM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FRPFGM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FRPFGM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FRPFGM Neuroblastoma 2A00.11 Orphanet 635 TPD-FRPFGM Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-FRPFGM ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-FRPFGM ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-FRPFGM Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-FRPPZO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FRPPZO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FRRPWL Noonan syndrome LD2F.15 Orphanet 648 TPD-FRRPWL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FRRPWL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FRRPWL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FRRPWL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FRRPWL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FRRPWL Lynch syndrome 2B90.Y Orphanet 144 TPD-FRRPWL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FRRPWL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FRTKUD Noonan syndrome LD2F.15 Orphanet 648 TPD-FRTKUD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FRTKUD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FRTKUD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FRTKUD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FRTKUD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FRTKUD Lynch syndrome 2B90.Y Orphanet 144 TPD-FRTKUD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FRTKUD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FRUB8W Familial melanoma QC61.Y Orphanet 618 TPD-FRUB8W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FRUSA7 Noonan syndrome LD2F.15 Orphanet 648 TPD-FRUSA7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FRUSA7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FRUSA7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FRUSA7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FRUSA7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FRUSA7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FRUSA7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FRUSA7 Craniopharyngioma 2F9A Orphanet 54595 TPD-FRUSA7 Cushing disease 5A70.0 Orphanet 96253 TPD-FRW1OP Familial melanoma QC61.Y Orphanet 618 TPD-FRW1OP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FRXDD2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FRXDD2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FRXDD2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FRXDD2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FRXDD2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FRXDD2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FRXDD2 Semantic dementia 6D83 Orphanet 100069 TPD-FRXDD2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FRXT5L Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FRY1MT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FRY1MT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FRY1MT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FRY1MT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FS4AD4 Noonan syndrome LD2F.15 Orphanet 648 TPD-FS4AD4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FS4AD4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FS4AD4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FS4AD4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FS4AD4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FS4AD4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FS4AD4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FS4AD4 Craniopharyngioma 2F9A Orphanet 54595 TPD-FS4AD4 Cushing disease 5A70.0 Orphanet 96253 TPD-FS5MG0 Kennedy disease 8B61.4 Orphanet 481 TPD-FS5MG0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FS5MG0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FS5MG0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FS88J7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FS88J7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FSAPQN Kennedy disease 8B61.4 Orphanet 481 TPD-FSAPQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FSAPQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FSAPQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FSBO4T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FSBO4T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FSBO4T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FSCI40 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FSCI40 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FSCI40 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FSFSXM Familial melanoma QC61.Y Orphanet 618 TPD-FSFSXM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FSFTJU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FSFTJU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FSGAAA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FSGAAA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FSH3GZ Noonan syndrome LD2F.15 Orphanet 648 TPD-FSH3GZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FSH3GZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FSH3GZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FSH3GZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FSH3GZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FSH3GZ Lynch syndrome 2B90.Y Orphanet 144 TPD-FSH3GZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FSH3GZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FSHAMS Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FSHAMS Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FSINIM Burkitt lymphoma XH4KA9 Orphanet 543 TPD-FSINIM Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FSINIM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FSJWOA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FSK1SE Noonan syndrome LD2F.15 Orphanet 648 TPD-FSK1SE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FSK1SE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FSK1SE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FSK1SE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FSK1SE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FSK1SE Lynch syndrome 2B90.Y Orphanet 144 TPD-FSK1SE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FSK1SE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FSKJCS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FSKJCS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FSKJCS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FSKJCS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FSKUE9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FSLBHX Kennedy disease 8B61.4 Orphanet 481 TPD-FSLBHX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FSLBHX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FSLBHX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FSMYC4 Kennedy disease 8B61.4 Orphanet 481 TPD-FSMYC4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FSMYC4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FSMYC4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FSO597 Noonan syndrome LD2F.15 Orphanet 648 TPD-FSO597 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FSO597 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FSO597 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FSO597 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FSO597 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FSO597 Lynch syndrome 2B90.Y Orphanet 144 TPD-FSO597 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FSO597 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FSPKTI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FSPKTI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FSVTE0 Kennedy disease 8B61.4 Orphanet 481 TPD-FSVTE0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FSVTE0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FSVTE0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FT1IXP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FT1IXP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FT1IXP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FT2W3S Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-FT4M6Q Noonan syndrome LD2F.15 Orphanet 648 TPD-FT4M6Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FT4M6Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FT4M6Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FT4M6Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FT4M6Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FT4M6Q Lynch syndrome 2B90.Y Orphanet 144 TPD-FT4M6Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FT4M6Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FTADPY Kennedy disease 8B61.4 Orphanet 481 TPD-FTADPY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FTADPY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FTADPY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FTEODZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FTEVTA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FTEVTA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FTFTGP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FTG20N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FTG20N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FTG20N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FTG20N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FTMYD2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FTMYD2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FTMYD2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FTOY0H Kennedy disease 8B61.4 Orphanet 481 TPD-FTOY0H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FTOY0H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FTOY0H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FTP3XL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FTP3XL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FTP3XL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FTU75R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FTU75R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FTV28H Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FTW6RV Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FTYPUE Noonan syndrome LD2F.15 Orphanet 648 TPD-FTYPUE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FTYPUE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FTYPUE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FTYPUE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FTYPUE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FTYPUE Lynch syndrome 2B90.Y Orphanet 144 TPD-FTYPUE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FTYPUE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FU3OSA Noonan syndrome LD2F.15 Orphanet 648 TPD-FU3OSA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FU3OSA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FU3OSA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FU3OSA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FU3OSA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FU3OSA Lynch syndrome 2B90.Y Orphanet 144 TPD-FU3OSA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FU3OSA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FU40EK Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FU4DF1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FU4DF1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FU4DF1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FU5GX8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FU5GX8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-FU8C3D Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-FU92EU Kennedy disease 8B61.4 Orphanet 481 TPD-FU92EU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FU92EU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FU92EU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FUA2GW Weaver syndrome LD2C Orphanet 3447 TPD-FUCLGS Kennedy disease 8B61.4 Orphanet 481 TPD-FUCLGS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FUCLGS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FUCLGS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FUD6A9 Kennedy disease 8B61.4 Orphanet 481 TPD-FUD6A9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FUD6A9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FUD6A9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FUNEF6 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-FUNEF6 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FUNEF6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-FUNFXB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FUOQQT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FUOQQT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FUOQQT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FUP8NO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FUPRJE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-FUPRJE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-FUX6YR Kennedy disease 8B61.4 Orphanet 481 TPD-FUX6YR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FUX6YR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FUX6YR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FUZ80Q Noonan syndrome LD2F.15 Orphanet 648 TPD-FUZ80Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FUZ80Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FUZ80Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FUZ80Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FUZ80Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FUZ80Q Lynch syndrome 2B90.Y Orphanet 144 TPD-FUZ80Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FUZ80Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FV61A7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FV61A7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FV61A7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FV64SG Kennedy disease 8B61.4 Orphanet 481 TPD-FV64SG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FV64SG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FV64SG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FV8MT5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FV8MT5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FV8MT5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FVB4T7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FVB4T7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FVB4T7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FVB501 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FVB501 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FVB501 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FVBGS6 Kennedy disease 8B61.4 Orphanet 481 TPD-FVBGS6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FVBGS6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FVBGS6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FVBLYL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FVBLYL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FVBLYL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FVCD1D Noonan syndrome LD2F.15 Orphanet 648 TPD-FVCD1D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FVCD1D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FVCD1D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FVCD1D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FVCD1D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FVCD1D Lynch syndrome 2B90.Y Orphanet 144 TPD-FVCD1D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FVCD1D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FVEH69 Kennedy disease 8B61.4 Orphanet 481 TPD-FVEH69 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FVEH69 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FVEH69 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FVEW43 Familial melanoma QC61.Y Orphanet 618 TPD-FVEW43 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FVKKS3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FVKKS3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FVKKS3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FVM6O3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FVNI4C Noonan syndrome LD2F.15 Orphanet 648 TPD-FVNI4C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FVNI4C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FVNI4C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FVNI4C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FVNI4C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FVNI4C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FVNI4C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FVNI4C Craniopharyngioma 2F9A Orphanet 54595 TPD-FVNI4C Cushing disease 5A70.0 Orphanet 96253 TPD-FVOWPZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FVOWPZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FVOWPZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FVOWPZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FVS7QD Kennedy disease 8B61.4 Orphanet 481 TPD-FVS7QD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FVS7QD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FVS7QD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FVT8QE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FVTQFG Noonan syndrome LD2F.15 Orphanet 648 TPD-FVTQFG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-FVTQFG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-FVTQFG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FVTQFG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FVTQFG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-FVTQFG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-FVTQFG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-FVTQFG Craniopharyngioma 2F9A Orphanet 54595 TPD-FVTQFG Cushing disease 5A70.0 Orphanet 96253 TPD-FVVM0C Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-FVY9HB Kennedy disease 8B61.4 Orphanet 481 TPD-FVY9HB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FVY9HB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FVY9HB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FVYTFY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FVYTFY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FVZRYA Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-FVZRYA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FW64P4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FW64P4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FW80DE Kennedy disease 8B61.4 Orphanet 481 TPD-FW80DE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FW80DE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FW80DE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FW8ANC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FWA4HD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FWA4HD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FWA4HD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FWCAIX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FWCHOB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FWCHOB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FWE9B6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-FWE9B6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FWESHH Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-FWESHH Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-FWG8HO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FWG8HO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FWG8HO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FWG8HO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FWIBTM Noonan syndrome LD2F.15 Orphanet 648 TPD-FWIBTM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FWIBTM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FWIBTM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FWIBTM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FWIBTM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FWIBTM Lynch syndrome 2B90.Y Orphanet 144 TPD-FWIBTM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FWIBTM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FWIJ48 Kennedy disease 8B61.4 Orphanet 481 TPD-FWIJ48 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FWIJ48 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FWIJ48 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FWJAE3 Noonan syndrome LD2F.15 Orphanet 648 TPD-FWJAE3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FWJAE3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FWJAE3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FWJAE3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FWJAE3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FWJAE3 Lynch syndrome 2B90.Y Orphanet 144 TPD-FWJAE3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FWJAE3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FWMEOM Kennedy disease 8B61.4 Orphanet 481 TPD-FWMEOM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FWMEOM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FWMEOM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FWR0LZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FWR0LZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FWR0LZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FWSKSI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FWV4XY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FWVVBZ Kennedy disease 8B61.4 Orphanet 481 TPD-FWVVBZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FWVVBZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FWVVBZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FWWP01 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FWWP01 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FWWP01 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FWWP01 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FWX60B CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FWYPVZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-FWYPVZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-FX3N49 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FX3N49 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FX3N49 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FX3N49 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FX3RPM Noonan syndrome LD2F.15 Orphanet 648 TPD-FX3RPM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FX3RPM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FX3RPM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FX3RPM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FX3RPM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FX3RPM Lynch syndrome 2B90.Y Orphanet 144 TPD-FX3RPM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FX3RPM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FX4JI8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FX4JI8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FX4JI8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FX4JI8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FX6XV8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FX6XV8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FX6XV8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FX6XV8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FXCNRU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FXEE08 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-FXF2FF Kennedy disease 8B61.4 Orphanet 481 TPD-FXF2FF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FXF2FF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FXF2FF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FXH2GZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FXIJUG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FXIJUG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FXIJUG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FXIJUG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FXJH4V Kennedy disease 8B61.4 Orphanet 481 TPD-FXJH4V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FXJH4V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FXJH4V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FXMUMW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FXTD78 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FXTD78 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FXTD78 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FXTD78 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FXUNWR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FXUNWR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FXUNWR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FXVYI0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FXVYI0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FXVYI0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FXW6BK Familial melanoma QC61.Y Orphanet 618 TPD-FXW6BK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FXWWVN Noonan syndrome LD2F.15 Orphanet 648 TPD-FXWWVN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FXWWVN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FXWWVN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FXWWVN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FXWWVN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FXWWVN Lynch syndrome 2B90.Y Orphanet 144 TPD-FXWWVN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FXWWVN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FXX4NG Kennedy disease 8B61.4 Orphanet 481 TPD-FXX4NG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FXX4NG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FXX4NG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FY06WM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FY06WM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FY06WM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FY06WM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FY248U Kennedy disease 8B61.4 Orphanet 481 TPD-FY248U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FY248U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FY248U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FY6J7K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FY6J7K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FY6J7K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FY6ZOY Kennedy disease 8B61.4 Orphanet 481 TPD-FY6ZOY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FY6ZOY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FY6ZOY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FY7BCD Kennedy disease 8B61.4 Orphanet 481 TPD-FY7BCD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FY7BCD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FY7BCD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FY7YI0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FY7YI0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FYCDKQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FYCDKQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FYCDKQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FYCGIP Kennedy disease 8B61.4 Orphanet 481 TPD-FYCGIP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYCGIP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYCGIP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYFN0U Kennedy disease 8B61.4 Orphanet 481 TPD-FYFN0U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYFN0U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYFN0U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYHVEJ Noonan syndrome LD2F.15 Orphanet 648 TPD-FYHVEJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FYHVEJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FYHVEJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FYHVEJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FYHVEJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FYHVEJ Lynch syndrome 2B90.Y Orphanet 144 TPD-FYHVEJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FYHVEJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FYIGDO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-FYK3ZT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FYK3ZT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-FYK3ZT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FYKCKA Kennedy disease 8B61.4 Orphanet 481 TPD-FYKCKA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYKCKA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYKCKA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYKCN1 Kennedy disease 8B61.4 Orphanet 481 TPD-FYKCN1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYKCN1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYKCN1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYO3CF Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-FYOXFM Kennedy disease 8B61.4 Orphanet 481 TPD-FYOXFM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYOXFM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYOXFM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYS3AZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-FYTUV5 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-FYTUV5 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-FYTUV5 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-FYTUV5 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-FYTUV5 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-FYTUV5 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-FYTUV5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FYTUV5 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-FYTUV5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-FYUT3Y Kennedy disease 8B61.4 Orphanet 481 TPD-FYUT3Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYUT3Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYUT3Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYW3FF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FYW3FF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FYWBFC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FYWBFC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FYWBFC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FYXNTH Kennedy disease 8B61.4 Orphanet 481 TPD-FYXNTH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FYXNTH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FYXNTH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FYY7RL Noonan syndrome LD2F.15 Orphanet 648 TPD-FYY7RL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FYY7RL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FYY7RL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FYY7RL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FYY7RL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FYY7RL Lynch syndrome 2B90.Y Orphanet 144 TPD-FYY7RL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FYY7RL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FZ7I5H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-FZ7I5H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-FZ7I5H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-FZ98TW Kennedy disease 8B61.4 Orphanet 481 TPD-FZ98TW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FZ98TW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FZ98TW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FZARAW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FZARAW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FZARAW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FZARAW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-FZB650 Noonan syndrome LD2F.15 Orphanet 648 TPD-FZB650 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-FZEHR4 Familial melanoma QC61.Y Orphanet 618 TPD-FZEHR4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-FZGEH6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-FZGEH6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-FZGEH6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-FZGEH6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-FZGEH6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-FZGEH6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-FZGEH6 Semantic dementia 6D83 Orphanet 100069 TPD-FZGEH6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-FZGK78 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-FZGK78 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-FZLHDW Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-FZLHDW Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-FZO633 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-FZTDZL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-FZTDZL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-FZTDZL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-FZU6JQ Noonan syndrome LD2F.15 Orphanet 648 TPD-FZU6JQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FZU6JQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FZU6JQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FZU6JQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FZU6JQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FZU6JQ Lynch syndrome 2B90.Y Orphanet 144 TPD-FZU6JQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FZU6JQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FZU6JQ Isolated Joubert syndrome LD20.00 Orphanet 475 TPD-FZU6JQ Orofaciodigital syndrome type 6 LD25.00 Orphanet 2754 TPD-FZUEID CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-FZUMRL Kennedy disease 8B61.4 Orphanet 481 TPD-FZUMRL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-FZUMRL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-FZUMRL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-FZXU8L Noonan syndrome LD2F.15 Orphanet 648 TPD-FZXU8L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FZXU8L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FZXU8L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FZXU8L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FZXU8L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FZXU8L Lynch syndrome 2B90.Y Orphanet 144 TPD-FZXU8L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FZXU8L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G03D0S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-G04ODZ Kennedy disease 8B61.4 Orphanet 481 TPD-G04ODZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G04ODZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G04ODZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G052SR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G052SR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-G052SR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G0659L Familial melanoma QC61.Y Orphanet 618 TPD-G0659L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G07JHJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G07JHJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G07JHJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G07JHJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G0AASP Noonan syndrome LD2F.15 Orphanet 648 TPD-G0AASP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G0AASP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G0AASP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G0AASP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G0AASP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G0AASP Lynch syndrome 2B90.Y Orphanet 144 TPD-G0AASP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G0AASP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G0FCE8 Kennedy disease 8B61.4 Orphanet 481 TPD-G0FCE8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G0FCE8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G0FCE8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G0GIY2 Familial melanoma QC61.Y Orphanet 618 TPD-G0GIY2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G0GQKT Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-G0GQKT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-G0GWNI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G0GWNI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G0OB9I Noonan syndrome LD2F.15 Orphanet 648 TPD-G0OB9I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G0OB9I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G0OB9I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G0OB9I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G0OB9I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G0OB9I Lynch syndrome 2B90.Y Orphanet 144 TPD-G0OB9I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G0OB9I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G0T348 Kennedy disease 8B61.4 Orphanet 481 TPD-G0T348 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G0T348 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G0T348 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G0T7SF Noonan syndrome LD2F.15 Orphanet 648 TPD-G0T7SF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G0T7SF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G0T7SF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G0T7SF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G0T7SF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G0T7SF Lynch syndrome 2B90.Y Orphanet 144 TPD-G0T7SF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G0T7SF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G0UJWX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G0UJWX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G0UJWX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G0VI5M Kennedy disease 8B61.4 Orphanet 481 TPD-G0VI5M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G0VI5M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G0VI5M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G0WJHA Familial melanoma QC61.Y Orphanet 618 TPD-G0WJHA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G0XRW0 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-G0YHFA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G0YHFA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-G0YHFA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G0ZIBM Noonan syndrome LD2F.15 Orphanet 648 TPD-G0ZIBM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-G11C9C Kennedy disease 8B61.4 Orphanet 481 TPD-G11C9C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G11C9C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G11C9C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G11OBI Noonan syndrome LD2F.15 Orphanet 648 TPD-G11OBI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G11OBI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G11OBI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G11OBI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G11OBI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G11OBI Lynch syndrome 2B90.Y Orphanet 144 TPD-G11OBI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G11OBI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G13744 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G13744 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G14E0Y Noonan syndrome LD2F.15 Orphanet 648 TPD-G14E0Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G14E0Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G14E0Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G14E0Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G14E0Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G14E0Y Lynch syndrome 2B90.Y Orphanet 144 TPD-G14E0Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G14E0Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G15U13 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-G15U13 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-G186BO Noonan syndrome LD2F.15 Orphanet 648 TPD-G186BO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G186BO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G186BO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G186BO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G186BO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G186BO Lynch syndrome 2B90.Y Orphanet 144 TPD-G186BO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G186BO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G187XP Noonan syndrome LD2F.15 Orphanet 648 TPD-G187XP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G187XP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G187XP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G187XP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G187XP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G187XP Lynch syndrome 2B90.Y Orphanet 144 TPD-G187XP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G187XP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G1C92M Kennedy disease 8B61.4 Orphanet 481 TPD-G1C92M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G1C92M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G1C92M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G1FQED Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-G1FQED Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-G1FQED Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-G1FQED Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-G1FQED Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-G1FQED Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-G1FQED B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G1FQED Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-G1FQED Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-G1FQM0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G1FQM0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G1FQM0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G1FQM0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G1GYIK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G1PW5Q Kennedy disease 8B61.4 Orphanet 481 TPD-G1PW5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G1PW5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G1PW5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G1R9RN Noonan syndrome LD2F.15 Orphanet 648 TPD-G1R9RN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G1R9RN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G1R9RN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G1R9RN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G1R9RN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G1R9RN Lynch syndrome 2B90.Y Orphanet 144 TPD-G1R9RN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G1R9RN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G1RWL0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G1RWL0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G1Z56S Noonan syndrome LD2F.15 Orphanet 648 TPD-G1Z56S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G1Z56S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G1Z56S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G1Z56S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G1Z56S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G1Z56S Lynch syndrome 2B90.Y Orphanet 144 TPD-G1Z56S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G1Z56S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G23BOF Noonan syndrome LD2F.15 Orphanet 648 TPD-G23BOF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G23BOF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G23BOF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G23BOF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G23BOF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G23BOF Lynch syndrome 2B90.Y Orphanet 144 TPD-G23BOF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G23BOF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G24BQD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G24BQD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G24BQD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G25QHQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G25QHQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G25QHQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G2775F Kennedy disease 8B61.4 Orphanet 481 TPD-G2775F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G2775F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G2775F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G294DZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-G2A9H0 Kennedy disease 8B61.4 Orphanet 481 TPD-G2A9H0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G2A9H0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G2A9H0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G2DRBK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G2J6YG Kennedy disease 8B61.4 Orphanet 481 TPD-G2J6YG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G2J6YG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G2J6YG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G2JWOS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G2JWOS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G2JWOS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G2LHZD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G2LHZD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G2Q8KL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G2Q8KL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G2R3RB Kennedy disease 8B61.4 Orphanet 481 TPD-G2R3RB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G2R3RB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G2R3RB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G2SMTN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G2SMTN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G2ZGNT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G2ZGNT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-G2ZGNT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G2ZSAU Familial melanoma QC61.Y Orphanet 618 TPD-G2ZSAU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G33MFD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G33MFD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G33MFD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G33MFD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G33PHC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G33PHC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G37YY7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G37YY7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G37YY7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G39ALE Kennedy disease 8B61.4 Orphanet 481 TPD-G39ALE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G39ALE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G39ALE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G39VHL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G39VHL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G3BJE8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G3BJE8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G3E9QX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G3E9QX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G3ECJJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G3ECJJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G3ECJJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G3JPF0 Noonan syndrome LD2F.15 Orphanet 648 TPD-G3JPF0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-G3JPF0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-G3JPF0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G3JPF0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G3JPF0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-G3JPF0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-G3JPF0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-G3JPF0 Craniopharyngioma 2F9A Orphanet 54595 TPD-G3JPF0 Cushing disease 5A70.0 Orphanet 96253 TPD-G3KLMG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G3PCH6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G3QDDG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G3QDDG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-G3QDDG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G3QNBI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G3RAJA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G3RAJA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G3SFDS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G3SFDS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G3XSNE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G3XSNE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G3XSNE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G3XSNE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G3YD2T Kennedy disease 8B61.4 Orphanet 481 TPD-G3YD2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G3YD2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G3YD2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G3Z9AX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G3Z9AX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G41Y9B Noonan syndrome LD2F.15 Orphanet 648 TPD-G41Y9B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G41Y9B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G41Y9B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G41Y9B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G41Y9B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G41Y9B Lynch syndrome 2B90.Y Orphanet 144 TPD-G41Y9B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G41Y9B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G4E775 Kennedy disease 8B61.4 Orphanet 481 TPD-G4E775 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G4E775 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G4E775 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G4JZQ9 B-lymphoblastic leukemia/lymphoma with hyperdiploidy 2A70.Y Orphanet 585936 TPD-G4LF0X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G51TWP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-G53YS7 Kennedy disease 8B61.4 Orphanet 481 TPD-G53YS7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G53YS7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G53YS7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G55UC3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G586CL Familial melanoma QC61.Y Orphanet 618 TPD-G586CL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G5CWZA Kennedy disease 8B61.4 Orphanet 481 TPD-G5CWZA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G5CWZA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G5CWZA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G5DV19 Familial multinodular goiter 5A01.2 Orphanet 276399 TPD-G5FJ9B Kennedy disease 8B61.4 Orphanet 481 TPD-G5FJ9B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G5FJ9B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G5FJ9B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G5HCQ4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G5HCQ4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G5HCQ4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G5HCQ4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G5JXTF Kennedy disease 8B61.4 Orphanet 481 TPD-G5JXTF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G5JXTF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G5JXTF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G5NBH4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G5NBH4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G5NBH4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G5NBH4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G5QQ80 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-G5R544 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G5R544 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G5VJ0C Noonan syndrome LD2F.15 Orphanet 648 TPD-G5VJ0C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G5VJ0C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G5VJ0C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G5VJ0C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G5VJ0C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G5VJ0C Lynch syndrome 2B90.Y Orphanet 144 TPD-G5VJ0C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G5VJ0C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G5WGO5 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-G5WGO5 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-G5XNQ8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-G5XURZ Noonan syndrome LD2F.15 Orphanet 648 TPD-G5XURZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G5XURZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G5XURZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G5XURZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G5XURZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G5XURZ Lynch syndrome 2B90.Y Orphanet 144 TPD-G5XURZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G5XURZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G5Y9XX Noonan syndrome LD2F.15 Orphanet 648 TPD-G5Y9XX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G5Y9XX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G5Y9XX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G5Y9XX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G5Y9XX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G5Y9XX Lynch syndrome 2B90.Y Orphanet 144 TPD-G5Y9XX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G5Y9XX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G61DUI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G61DUI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G61DUI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G61DUI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G61EVE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G61EVE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G64F5E Familial melanoma QC61.Y Orphanet 618 TPD-G64F5E Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G6BBIO Kennedy disease 8B61.4 Orphanet 481 TPD-G6BBIO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G6BBIO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G6BBIO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G6D9UH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-G6D9UH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-G6DW03 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-G6E4RV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G6E4RV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G6E4RV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G6EZRZ Noonan syndrome LD2F.15 Orphanet 648 TPD-G6EZRZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G6EZRZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G6EZRZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G6EZRZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G6EZRZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G6EZRZ Lynch syndrome 2B90.Y Orphanet 144 TPD-G6EZRZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G6EZRZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G6L47J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G6LWVG Noonan syndrome LD2F.15 Orphanet 648 TPD-G6LWVG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G6LWVG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G6LWVG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G6LWVG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G6LWVG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G6LWVG Lynch syndrome 2B90.Y Orphanet 144 TPD-G6LWVG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G6LWVG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G6M1YQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-G6OV84 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G6SRHG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G6SRHG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G6SRHG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G6VYLS Kennedy disease 8B61.4 Orphanet 481 TPD-G6VYLS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G6VYLS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G6VYLS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G6ZGDP Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-G730HE Kennedy disease 8B61.4 Orphanet 481 TPD-G730HE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G730HE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G730HE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G74JVR Kennedy disease 8B61.4 Orphanet 481 TPD-G74JVR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G74JVR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G74JVR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G784RL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-G79ECX Noonan syndrome LD2F.15 Orphanet 648 TPD-G79ECX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G79ECX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G79ECX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G79ECX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G79ECX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G79ECX Lynch syndrome 2B90.Y Orphanet 144 TPD-G79ECX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G79ECX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G7CDFA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-G7CMNA Noonan syndrome LD2F.15 Orphanet 648 TPD-G7CMNA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-G7CMNA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-G7CMNA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G7CMNA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G7CMNA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-G7CMNA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-G7CMNA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-G7CMNA Craniopharyngioma 2F9A Orphanet 54595 TPD-G7CMNA Cushing disease 5A70.0 Orphanet 96253 TPD-G7E3JD Achondroplasia LD24.00 Orphanet 15 TPD-G7E3JD Hypochondroplasia LD24.01 Orphanet 429 TPD-G7E3JD Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-G7E3JD Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-G7E3JD Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-G7E3JD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G7E3JD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G7E3JD Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-G7E3JD Muenke syndrome LD24.GY Orphanet 53271 TPD-G7E3JD Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-G7E3JD Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-G7E3JD Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-G7EFQK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G7EFQK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G7IGSR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G7IGSR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G7IGSR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G7IGSR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G7JECQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G7JECQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G7JECQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G7JECQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G7K3FY Kennedy disease 8B61.4 Orphanet 481 TPD-G7K3FY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G7K3FY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G7K3FY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G7MR86 Kennedy disease 8B61.4 Orphanet 481 TPD-G7MR86 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G7MR86 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G7MR86 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G7N2D0 Noonan syndrome LD2F.15 Orphanet 648 TPD-G7N2D0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G7N2D0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G7N2D0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G7N2D0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G7N2D0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G7N2D0 Lynch syndrome 2B90.Y Orphanet 144 TPD-G7N2D0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G7N2D0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G7P393 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-G7R7EU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G7R7EU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G7R7EU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G7TCNU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-G7TCNU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-G7VFB6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G7VFB6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G7VFB6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G8586A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G870HU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-G870HU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-G870HU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-G870HU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-G870HU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-G870HU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-G870HU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G870HU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-G870HU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-G891U8 Noonan syndrome LD2F.15 Orphanet 648 TPD-G891U8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G891U8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G891U8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G891U8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G891U8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G891U8 Lynch syndrome 2B90.Y Orphanet 144 TPD-G891U8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G891U8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G8CF9L Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-G8E9O2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-G8GM11 Kennedy disease 8B61.4 Orphanet 481 TPD-G8GM11 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G8GM11 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G8GM11 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G8GRLH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G8GRLH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G8GRLH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G8HFCL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-G8HFCL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-G8HOYY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G8I8J2 Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-G8I8J2 Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-G8I8J2 Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-G8I8J2 Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-G8JW1B Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-G8JW1B Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-G8RQUC Kennedy disease 8B61.4 Orphanet 481 TPD-G8RQUC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G8RQUC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G8RQUC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G8RYET Kennedy disease 8B61.4 Orphanet 481 TPD-G8RYET Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G8RYET Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G8RYET Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G8T2US Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-G8U5D3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G8U5D3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G8U5D3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G8ZC41 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G944Q2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-G94VJ2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-G968OI Kennedy disease 8B61.4 Orphanet 481 TPD-G968OI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G968OI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G968OI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G9815Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-G9815Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-G9815Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-G98HK5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G9A2M8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G9B6NJ Noonan syndrome LD2F.15 Orphanet 648 TPD-G9B6NJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G9B6NJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G9B6NJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G9B6NJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G9B6NJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G9B6NJ Lynch syndrome 2B90.Y Orphanet 144 TPD-G9B6NJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G9B6NJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G9BR2U Kennedy disease 8B61.4 Orphanet 481 TPD-G9BR2U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G9BR2U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G9BR2U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G9FKDJ Noonan syndrome LD2F.15 Orphanet 648 TPD-G9FKDJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G9FKDJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G9FKDJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G9FKDJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G9FKDJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G9FKDJ Lynch syndrome 2B90.Y Orphanet 144 TPD-G9FKDJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G9FKDJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G9GA6P Kennedy disease 8B61.4 Orphanet 481 TPD-G9GA6P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-G9GA6P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-G9GA6P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-G9II0W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G9II0W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G9IS6Q Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-G9LRXD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G9LRXD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G9LRXD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G9LRXD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G9LS5H Noonan syndrome LD2F.15 Orphanet 648 TPD-G9LS5H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G9LS5H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G9LS5H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G9LS5H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G9LS5H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G9LS5H Lynch syndrome 2B90.Y Orphanet 144 TPD-G9LS5H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G9LS5H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G9MW3V CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-G9T19D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-G9T19D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-G9T19D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-G9T19D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-G9TER5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G9TER5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-G9TSDB Familial melanoma QC61.Y Orphanet 618 TPD-G9TSDB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-G9U010 Familial melanoma QC61.Y Orphanet 618 TPD-G9U010 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GA0CFU Noonan syndrome LD2F.15 Orphanet 648 TPD-GA0CFU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GA0CFU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GA0CFU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GA0CFU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GA0CFU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GA0CFU Lynch syndrome 2B90.Y Orphanet 144 TPD-GA0CFU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GA0CFU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GA71RF Noonan syndrome LD2F.15 Orphanet 648 TPD-GA71RF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GA71RF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GA71RF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GA71RF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GA71RF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GA71RF Lynch syndrome 2B90.Y Orphanet 144 TPD-GA71RF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GA71RF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GA7QAJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GA9FX5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GABO5J Kennedy disease 8B61.4 Orphanet 481 TPD-GABO5J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GABO5J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GABO5J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GADCK0 Noonan syndrome LD2F.15 Orphanet 648 TPD-GADCK0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GADCK0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GADCK0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GADCK0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GADCK0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GADCK0 Lynch syndrome 2B90.Y Orphanet 144 TPD-GADCK0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GADCK0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GAFVFL Kennedy disease 8B61.4 Orphanet 481 TPD-GAFVFL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GAFVFL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GAFVFL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GAH12B Noonan syndrome LD2F.15 Orphanet 648 TPD-GAH12B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GAH12B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GAH12B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GAH12B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GAH12B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GAH12B Lynch syndrome 2B90.Y Orphanet 144 TPD-GAH12B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GAH12B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GAJNGH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GAJNGH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GAJNGH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GALFI5 Kennedy disease 8B61.4 Orphanet 481 TPD-GALFI5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GALFI5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GALFI5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GAM0P6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GAM0P6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GAQ7AY Kennedy disease 8B61.4 Orphanet 481 TPD-GAQ7AY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GAQ7AY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GAQ7AY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GARKTL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GARKTL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GARKTL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GARKTL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GASAZM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GAUI8M Kennedy disease 8B61.4 Orphanet 481 TPD-GAUI8M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GAUI8M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GAUI8M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GAWUIH Noonan syndrome LD2F.15 Orphanet 648 TPD-GAWUIH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GAWUIH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GAWUIH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GAWUIH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GAWUIH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GAWUIH Lynch syndrome 2B90.Y Orphanet 144 TPD-GAWUIH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GAWUIH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GAYH2Z Familial melanoma QC61.Y Orphanet 618 TPD-GAYH2Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GB2WJW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GB2WJW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GB2WJW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GB38VL Noonan syndrome LD2F.15 Orphanet 648 TPD-GB38VL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GB38VL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GB38VL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GB38VL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GB38VL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GB38VL Lynch syndrome 2B90.Y Orphanet 144 TPD-GB38VL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GB38VL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GB3K30 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GB4OFC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GB5XHV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GB7ZZC Familial melanoma QC61.Y Orphanet 618 TPD-GB7ZZC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GB9Q69 Familial melanoma QC61.Y Orphanet 618 TPD-GB9Q69 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GBBYGH Noonan syndrome LD2F.15 Orphanet 648 TPD-GBBYGH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GBBYGH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GBBYGH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GBBYGH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GBBYGH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GBBYGH Lynch syndrome 2B90.Y Orphanet 144 TPD-GBBYGH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GBBYGH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GBDRD0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-GBDSL2 Noonan syndrome LD2F.15 Orphanet 648 TPD-GBDSL2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GBDSL2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GBDSL2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GBDSL2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GBDSL2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GBDSL2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GBDSL2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GBDSL2 Craniopharyngioma 2F9A Orphanet 54595 TPD-GBDSL2 Cushing disease 5A70.0 Orphanet 96253 TPD-GBFEWZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GBGB6X Kennedy disease 8B61.4 Orphanet 481 TPD-GBGB6X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GBGB6X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GBGB6X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GBISJ3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GBISJ3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GBISJ3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GBKE2B Noonan syndrome LD2F.15 Orphanet 648 TPD-GBKE2B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GBKE2B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GBKE2B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GBKE2B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GBKE2B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GBKE2B Lynch syndrome 2B90.Y Orphanet 144 TPD-GBKE2B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GBKE2B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GBL2MV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GBL2MV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GBL2MV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GBL9EN Kennedy disease 8B61.4 Orphanet 481 TPD-GBL9EN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GBL9EN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GBL9EN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GBOB1R Noonan syndrome LD2F.15 Orphanet 648 TPD-GBOB1R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GBOB1R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GBOB1R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GBOB1R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GBOB1R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GBOB1R Lynch syndrome 2B90.Y Orphanet 144 TPD-GBOB1R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GBOB1R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GBQTNK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GBVVV2 Kennedy disease 8B61.4 Orphanet 481 TPD-GBVVV2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GBVVV2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GBVVV2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GBWOML X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GBWOML Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GBYD9O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GBYD9O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GBYD9O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GC2IY1 Noonan syndrome LD2F.15 Orphanet 648 TPD-GC2IY1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GC2IY1 Metachondromatosis LD24.2Y Orphanet 2499 TPD-GC2IY1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GC6A8T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GC6A8T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GC6A8T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GC8QPD Kennedy disease 8B61.4 Orphanet 481 TPD-GC8QPD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GC8QPD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GC8QPD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GC8VTV Kennedy disease 8B61.4 Orphanet 481 TPD-GC8VTV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GC8VTV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GC8VTV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCAN3B Kennedy disease 8B61.4 Orphanet 481 TPD-GCAN3B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCAN3B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCAN3B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCCUWS Noonan syndrome LD2F.15 Orphanet 648 TPD-GCCUWS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GCCUWS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GCCUWS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GCCUWS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GCCUWS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GCCUWS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GCCUWS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GCCUWS Craniopharyngioma 2F9A Orphanet 54595 TPD-GCCUWS Cushing disease 5A70.0 Orphanet 96253 TPD-GCCUWS Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-GCE2FZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GCE2FZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GCER6Q Weaver syndrome LD2C Orphanet 3447 TPD-GCGJWC Kennedy disease 8B61.4 Orphanet 481 TPD-GCGJWC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCGJWC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCGJWC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCHJZS Kennedy disease 8B61.4 Orphanet 481 TPD-GCHJZS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCHJZS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCHJZS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCIPAN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GCIPAN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GCNKRH Kennedy disease 8B61.4 Orphanet 481 TPD-GCNKRH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCNKRH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCNKRH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCQ44B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GCQ44B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GCR00U Noonan syndrome LD2F.15 Orphanet 648 TPD-GCR00U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GCR00U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GCR00U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GCR00U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GCR00U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GCR00U Lynch syndrome 2B90.Y Orphanet 144 TPD-GCR00U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GCR00U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GCSKN5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GCSLT7 Noonan syndrome LD2F.15 Orphanet 648 TPD-GCSLT7 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-GCT9OF Kennedy disease 8B61.4 Orphanet 481 TPD-GCT9OF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCT9OF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCT9OF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCUE4P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GCUE4P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GCUE4P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GCVGSE Kennedy disease 8B61.4 Orphanet 481 TPD-GCVGSE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCVGSE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCVGSE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCWNCS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GCXLSM Familial melanoma QC61.Y Orphanet 618 TPD-GCXLSM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GCXQ10 Kennedy disease 8B61.4 Orphanet 481 TPD-GCXQ10 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GCXQ10 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GCXQ10 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GCYZ75 Noonan syndrome LD2F.15 Orphanet 648 TPD-GCYZ75 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GCYZ75 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GCYZ75 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GCYZ75 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GCYZ75 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GCYZ75 Lynch syndrome 2B90.Y Orphanet 144 TPD-GCYZ75 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GCYZ75 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GD848V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GD848V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GD9CPK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-GDAFDR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GDAFDR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GDAM5H Kennedy disease 8B61.4 Orphanet 481 TPD-GDAM5H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GDAM5H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GDAM5H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GDAQ1I Kennedy disease 8B61.4 Orphanet 481 TPD-GDAQ1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GDAQ1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GDAQ1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GDF9XA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GDK415 Noonan syndrome LD2F.15 Orphanet 648 TPD-GDK415 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GDK415 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GDK415 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GDK415 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GDK415 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GDK415 Lynch syndrome 2B90.Y Orphanet 144 TPD-GDK415 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GDK415 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GDQ6S9 Noonan syndrome LD2F.15 Orphanet 648 TPD-GDQ6S9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GDQ6S9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GDQ6S9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GDQ6S9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GDQ6S9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GDQ6S9 Lynch syndrome 2B90.Y Orphanet 144 TPD-GDQ6S9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GDQ6S9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GDQDNK Noonan syndrome LD2F.15 Orphanet 648 TPD-GDQDNK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GDQDNK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GDQDNK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GDQDNK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GDQDNK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GDQDNK Lynch syndrome 2B90.Y Orphanet 144 TPD-GDQDNK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GDQDNK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GDQRAW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GDUC5P Kennedy disease 8B61.4 Orphanet 481 TPD-GDUC5P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GDUC5P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GDUC5P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GDUHUT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GDUHUT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GDUHUT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GDW18E CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GDZTHW Familial melanoma QC61.Y Orphanet 618 TPD-GDZTHW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GE17UA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GE17UA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GE17UA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GE6MI3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GE80LT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GE80LT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GE80LT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GE80LT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GE9TJS Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-GEFEND Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GEFEND Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GEFEND B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GEFEND B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GEGJKF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-GEHUL9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-GEIBMI Kennedy disease 8B61.4 Orphanet 481 TPD-GEIBMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GEIBMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GEIBMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GEIPQ3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GEIPQ3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GEJWIT Noonan syndrome LD2F.15 Orphanet 648 TPD-GEJWIT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GEJWIT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GEJWIT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GEJWIT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GEJWIT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GEJWIT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GEJWIT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GEJWIT Craniopharyngioma 2F9A Orphanet 54595 TPD-GEJWIT Cushing disease 5A70.0 Orphanet 96253 TPD-GEKFXG Kennedy disease 8B61.4 Orphanet 481 TPD-GEKFXG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GEKFXG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GEKFXG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GEKNBP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GEMWQS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GEPJRN Noonan syndrome LD2F.15 Orphanet 648 TPD-GEPJRN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GEPJRN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GEPJRN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GEPJRN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GEPJRN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GEPJRN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GEPJRN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GEPJRN Craniopharyngioma 2F9A Orphanet 54595 TPD-GEPJRN Cushing disease 5A70.0 Orphanet 96253 TPD-GERMF6 Noonan syndrome LD2F.15 Orphanet 648 TPD-GERMF6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GERMF6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GERMF6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GERMF6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GERMF6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GERMF6 Lynch syndrome 2B90.Y Orphanet 144 TPD-GERMF6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GERMF6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GEXC5E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GEXEQU Kennedy disease 8B61.4 Orphanet 481 TPD-GEXEQU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GEXEQU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GEXEQU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GEZK4J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GEZK4J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GF5BJR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GF5BJR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GF5BJR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GF5BJR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GF5NPQ Noonan syndrome LD2F.15 Orphanet 648 TPD-GF5NPQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GF5NPQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GF5NPQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GF5NPQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GF5NPQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GF5NPQ Lynch syndrome 2B90.Y Orphanet 144 TPD-GF5NPQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GF5NPQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GF5OKR Noonan syndrome LD2F.15 Orphanet 648 TPD-GF5OKR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GF5OKR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GF5OKR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GF5OKR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GF5OKR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GF5OKR Lynch syndrome 2B90.Y Orphanet 144 TPD-GF5OKR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GF5OKR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GF7HC7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GF7HC7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GF9TLH Kennedy disease 8B61.4 Orphanet 481 TPD-GF9TLH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GF9TLH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GF9TLH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GFBCQ5 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-GFBCQ5 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-GFBCQ5 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-GFBCQ5 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-GFBCQ5 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-GFBCQ5 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-GFBCQ5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GFBCQ5 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-GFBCQ5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-GFD46O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GFED5P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GFED5P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GFED5P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GFF2ON Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GFF2ON Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GFF2ON Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GFH8U7 Kennedy disease 8B61.4 Orphanet 481 TPD-GFH8U7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GFH8U7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GFH8U7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GFKEW0 Noonan syndrome LD2F.15 Orphanet 648 TPD-GFKEW0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GFKEW0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GFKEW0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GFKEW0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GFKEW0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GFKEW0 Lynch syndrome 2B90.Y Orphanet 144 TPD-GFKEW0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GFKEW0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GFKVB4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GFKVB4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GFKVB4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GFNEEU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GFNEEU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GFNEEU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GFP5F8 Familial melanoma QC61.Y Orphanet 618 TPD-GFP5F8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GFQJC7 Achondroplasia LD24.00 Orphanet 15 TPD-GFQJC7 Hypochondroplasia LD24.01 Orphanet 429 TPD-GFQJC7 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-GFQJC7 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-GFQJC7 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-GFQJC7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GFQJC7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GFQJC7 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-GFQJC7 Muenke syndrome LD24.GY Orphanet 53271 TPD-GFQJC7 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-GFQJC7 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-GFQJC7 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-GFSG9J Noonan syndrome LD2F.15 Orphanet 648 TPD-GFSG9J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GFSG9J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GFSG9J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GFSG9J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GFSG9J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GFSG9J Lynch syndrome 2B90.Y Orphanet 144 TPD-GFSG9J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GFSG9J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GFT7II Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GFT7II Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GFUTG9 Kennedy disease 8B61.4 Orphanet 481 TPD-GFUTG9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GFUTG9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GFUTG9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GFYJDZ Weaver syndrome LD2C Orphanet 3447 TPD-GG0OCS Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-GG0OCS Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-GG29HM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GG29HM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GG29HM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GG29HM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GG2P2F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GG2P2F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GG2P2F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GG2P2F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GG66CF Familial melanoma QC61.Y Orphanet 618 TPD-GG66CF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GG7J1U Kennedy disease 8B61.4 Orphanet 481 TPD-GG7J1U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GG7J1U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GG7J1U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GG8DGM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GG8H6N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GG8H6N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GGARKW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GGDBMC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GGN30V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GGN30V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GGN30V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GGP1OI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GGP1OI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GGP1OI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GGQCK8 Noonan syndrome LD2F.15 Orphanet 648 TPD-GGQCK8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GGQCK8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GGQCK8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GGQCK8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GGQCK8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GGQCK8 Lynch syndrome 2B90.Y Orphanet 144 TPD-GGQCK8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GGQCK8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GGZB1L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GGZB1L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GH0EJ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GH6UYR Noonan syndrome LD2F.15 Orphanet 648 TPD-GH6UYR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GH6UYR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GH6UYR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GH6UYR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GH6UYR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GH6UYR Lynch syndrome 2B90.Y Orphanet 144 TPD-GH6UYR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GH6UYR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GH8CPN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GHC1DZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GHC1DZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GHC1DZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GHFD7M Kennedy disease 8B61.4 Orphanet 481 TPD-GHFD7M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GHFD7M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GHFD7M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GHFR8W Familial melanoma QC61.Y Orphanet 618 TPD-GHFR8W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GHI7WS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GHI7WS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GHI7WS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GHL25W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GHMGUY Kennedy disease 8B61.4 Orphanet 481 TPD-GHMGUY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GHMGUY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GHMGUY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GHNOV9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GHNOV9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GHNSR2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GHNYEN Noonan syndrome LD2F.15 Orphanet 648 TPD-GHNYEN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GHNYEN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GHNYEN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GHNYEN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GHNYEN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GHNYEN Lynch syndrome 2B90.Y Orphanet 144 TPD-GHNYEN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GHNYEN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GHO0T1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-GHO0T1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-GHONSZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GHPWEZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GHR2MN Kennedy disease 8B61.4 Orphanet 481 TPD-GHR2MN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GHR2MN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GHR2MN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GHX71D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GHX71D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GI46PV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GIA88D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GIEUR0 Noonan syndrome LD2F.15 Orphanet 648 TPD-GIEUR0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GIEUR0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GIEUR0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GIEUR0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GIEUR0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GIEUR0 Lynch syndrome 2B90.Y Orphanet 144 TPD-GIEUR0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GIEUR0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GIGTLX Kennedy disease 8B61.4 Orphanet 481 TPD-GIGTLX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GIGTLX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GIGTLX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GII9Z5 Kennedy disease 8B61.4 Orphanet 481 TPD-GII9Z5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GII9Z5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GII9Z5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GIMOSD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GIMOSD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GIMOSD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GIMYCF Noonan syndrome LD2F.15 Orphanet 648 TPD-GIMYCF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GIMYCF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GIMYCF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GIMYCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GIMYCF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GIMYCF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GIMYCF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GIMYCF Craniopharyngioma 2F9A Orphanet 54595 TPD-GIMYCF Cushing disease 5A70.0 Orphanet 96253 TPD-GIOA4L Noonan syndrome LD2F.15 Orphanet 648 TPD-GIOA4L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GIOA4L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GIOA4L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GIOA4L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GIOA4L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GIOA4L Lynch syndrome 2B90.Y Orphanet 144 TPD-GIOA4L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GIOA4L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GIRC8A Kennedy disease 8B61.4 Orphanet 481 TPD-GIRC8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GIRC8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GIRC8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GIRHV3 Noonan syndrome LD2F.15 Orphanet 648 TPD-GIRHV3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GIRHV3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GIRHV3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GIRHV3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GIRHV3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GIRHV3 Lynch syndrome 2B90.Y Orphanet 144 TPD-GIRHV3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GIRHV3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GIRZ2M Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GIRZ2M Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GIRZ2M Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GIRZ2M Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GIRZ2M Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GIRZ2M Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GIRZ2M Semantic dementia 6D83 Orphanet 100069 TPD-GIRZ2M Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GISOXX Noonan syndrome LD2F.15 Orphanet 648 TPD-GISOXX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GISOXX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GISOXX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GISOXX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GISOXX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GISOXX Lynch syndrome 2B90.Y Orphanet 144 TPD-GISOXX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GISOXX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GJ2WDQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GJ2WDQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GJ2WDQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GJ2WDQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GJ63JU Kennedy disease 8B61.4 Orphanet 481 TPD-GJ63JU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GJ63JU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GJ63JU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GJDF02 Familial melanoma QC61.Y Orphanet 618 TPD-GJDF02 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GJFI18 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GJFI18 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GJFI18 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GJFI18 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GJFWPX Kennedy disease 8B61.4 Orphanet 481 TPD-GJFWPX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GJFWPX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GJFWPX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GJJ2G1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GJJ2G1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GJJ2G1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GJJ2G1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GJJ2G1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GJJ2G1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GJJ2G1 Semantic dementia 6D83 Orphanet 100069 TPD-GJJ2G1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GJLVWA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GJOXDI Familial melanoma QC61.Y Orphanet 618 TPD-GJOXDI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GJQC98 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GJQC98 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GJQC98 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GJRJJO Noonan syndrome LD2F.15 Orphanet 648 TPD-GJRJJO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GJRJJO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GJRJJO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GJRJJO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GJRJJO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GJRJJO Lynch syndrome 2B90.Y Orphanet 144 TPD-GJRJJO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GJRJJO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GJRVOF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GJRVOF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GJRVOF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GJWITB Noonan syndrome LD2F.15 Orphanet 648 TPD-GJWITB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GJWITB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GJWITB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GJWITB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GJWITB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GJWITB Lynch syndrome 2B90.Y Orphanet 144 TPD-GJWITB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GJWITB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GK0E1H Noonan syndrome LD2F.15 Orphanet 648 TPD-GK0E1H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GK0E1H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GK0E1H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GK0E1H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GK0E1H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GK0E1H Lynch syndrome 2B90.Y Orphanet 144 TPD-GK0E1H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GK0E1H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GK80LT Familial melanoma QC61.Y Orphanet 618 TPD-GK80LT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GK92F1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GK9IZ0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GK9IZ0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GK9IZ0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GK9IZ0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GKCVA4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GKDLPB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GKHW62 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GKLJIQ Kennedy disease 8B61.4 Orphanet 481 TPD-GKLJIQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GKLJIQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GKLJIQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GKNOB2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GKNSJ8 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-GKNSJ8 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-GKNSJ8 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-GKNSJ8 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-GKNSJ8 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-GKNSJ8 Polycythemia vera 2A20.4 Orphanet 729 TPD-GKNSJ8 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-GKNZTV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GKNZTV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GKNZTV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GKOFD6 Noonan syndrome LD2F.15 Orphanet 648 TPD-GKOFD6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GKOFD6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GKOFD6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GKOFD6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GKOFD6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GKOFD6 Lynch syndrome 2B90.Y Orphanet 144 TPD-GKOFD6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GKOFD6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GKPDVD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GKPDVD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GKPDVD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GKT4ZG Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-GKTDG2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GKTDG2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GKTDG2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GKWB64 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GKWB64 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GKWB64 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GKWB64 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GL06L5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GL06L5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GL23SH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GL23SH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GL23SH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GL23SH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GL482I Kennedy disease 8B61.4 Orphanet 481 TPD-GL482I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GL482I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GL482I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GL51CZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GL51CZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GL51CZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GL9ATU Noonan syndrome LD2F.15 Orphanet 648 TPD-GL9ATU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GL9ATU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GL9ATU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GL9ATU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GL9ATU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GL9ATU Lynch syndrome 2B90.Y Orphanet 144 TPD-GL9ATU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GL9ATU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GLH23K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GLHVW3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GLHVW3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GLL039 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GLL039 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GLL039 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GLLFQ6 Familial melanoma QC61.Y Orphanet 618 TPD-GLLFQ6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GLO7Y3 Kennedy disease 8B61.4 Orphanet 481 TPD-GLO7Y3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GLO7Y3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GLO7Y3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GLPXR0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GLQCHK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GLQMU9 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-GLSBU4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GLSBU4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GLXTNU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GLXTNU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GLY2LJ Noonan syndrome LD2F.15 Orphanet 648 TPD-GLY2LJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GLY2LJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GLY2LJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GLY2LJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GLY2LJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GLY2LJ Lynch syndrome 2B90.Y Orphanet 144 TPD-GLY2LJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GLY2LJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GLZP8Y Kennedy disease 8B61.4 Orphanet 481 TPD-GLZP8Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GLZP8Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GLZP8Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GM0UB7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GM0UB7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GM0UB7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GMDH68 Noonan syndrome LD2F.15 Orphanet 648 TPD-GMDH68 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GMDH68 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GMDH68 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GMDH68 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GMDH68 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GMDH68 Lynch syndrome 2B90.Y Orphanet 144 TPD-GMDH68 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GMDH68 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GME5DZ Noonan syndrome LD2F.15 Orphanet 648 TPD-GME5DZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GME5DZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GME5DZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GME5DZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GME5DZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GME5DZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GME5DZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GME5DZ Craniopharyngioma 2F9A Orphanet 54595 TPD-GME5DZ Cushing disease 5A70.0 Orphanet 96253 TPD-GMEBA5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GMF6KB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GMF6KB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GMG1GY Kennedy disease 8B61.4 Orphanet 481 TPD-GMG1GY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GMG1GY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GMG1GY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GMOJV5 Kennedy disease 8B61.4 Orphanet 481 TPD-GMOJV5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GMOJV5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GMOJV5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GMPI6S Familial melanoma QC61.Y Orphanet 618 TPD-GMPI6S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GMPK2P Kennedy disease 8B61.4 Orphanet 481 TPD-GMPK2P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GMPK2P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GMPK2P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GMQNYF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GMQNYF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GMQNYF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GMQNYF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GMQNYF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GMQNYF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GMQNYF Semantic dementia 6D83 Orphanet 100069 TPD-GMQNYF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GMUPSD Noonan syndrome LD2F.15 Orphanet 648 TPD-GMUPSD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GMUPSD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GMUPSD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GMUPSD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GMUPSD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GMUPSD Lynch syndrome 2B90.Y Orphanet 144 TPD-GMUPSD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GMUPSD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GMVM72 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GMVM72 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GMVM72 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GMXHD2 Kennedy disease 8B61.4 Orphanet 481 TPD-GMXHD2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GMXHD2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GMXHD2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GMYM1J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GN0VCV Kennedy disease 8B61.4 Orphanet 481 TPD-GN0VCV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GN0VCV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GN0VCV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GN1H2F Noonan syndrome LD2F.15 Orphanet 648 TPD-GN1H2F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GN1H2F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GN1H2F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GN1H2F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GN1H2F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GN1H2F Lynch syndrome 2B90.Y Orphanet 144 TPD-GN1H2F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GN1H2F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GN1PPE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GN1PPE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GN3G8L X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GN3G8L Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GN8Q57 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GN8Q57 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GN9VIZ Familial melanoma QC61.Y Orphanet 618 TPD-GN9VIZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GNH771 Noonan syndrome LD2F.15 Orphanet 648 TPD-GNH771 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GNH771 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GNH771 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GNH771 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GNH771 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GNH771 Lynch syndrome 2B90.Y Orphanet 144 TPD-GNH771 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GNH771 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GNHMBV Noonan syndrome LD2F.15 Orphanet 648 TPD-GNHMBV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GNHMBV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GNHMBV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GNHMBV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GNHMBV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GNHMBV Lynch syndrome 2B90.Y Orphanet 144 TPD-GNHMBV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GNHMBV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GNJ79Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GNKGFK Kennedy disease 8B61.4 Orphanet 481 TPD-GNKGFK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GNKGFK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GNKGFK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GNLPVB Noonan syndrome LD2F.15 Orphanet 648 TPD-GNLPVB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GNLPVB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GNLPVB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GNLPVB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GNLPVB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GNLPVB Lynch syndrome 2B90.Y Orphanet 144 TPD-GNLPVB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GNLPVB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GNMH2Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GNMH2Z Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GNMH2Z Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GNMH2Z Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GNMH2Z Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GNMH2Z Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GNMH2Z Semantic dementia 6D83 Orphanet 100069 TPD-GNMH2Z Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GNMIFS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GNMIFS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GNMIFS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GNOCU0 Noonan syndrome LD2F.15 Orphanet 648 TPD-GNOCU0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GNOCU0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GNOCU0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GNOCU0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GNOCU0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GNOCU0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GNOCU0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GNOCU0 Craniopharyngioma 2F9A Orphanet 54595 TPD-GNOCU0 Cushing disease 5A70.0 Orphanet 96253 TPD-GNQ0GF Kennedy disease 8B61.4 Orphanet 481 TPD-GNQ0GF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GNQ0GF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GNQ0GF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GNVDXL Noonan syndrome LD2F.15 Orphanet 648 TPD-GNVDXL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GNVDXL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GNVDXL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GNVDXL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GNVDXL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GNVDXL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GNVDXL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GNVDXL Craniopharyngioma 2F9A Orphanet 54595 TPD-GNVDXL Cushing disease 5A70.0 Orphanet 96253 TPD-GNVYBR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GNY64Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GNYC7O Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-GO323K Noonan syndrome LD2F.15 Orphanet 648 TPD-GO323K Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GO323K Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GO323K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GO323K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GO323K Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GO323K Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GO323K Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GO323K Craniopharyngioma 2F9A Orphanet 54595 TPD-GO323K Cushing disease 5A70.0 Orphanet 96253 TPD-GO3B6F Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GO3DA4 Noonan syndrome LD2F.15 Orphanet 648 TPD-GO3DA4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GO3DA4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GO3DA4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GO3DA4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GO3DA4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GO3DA4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GO3DA4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GO3DA4 Craniopharyngioma 2F9A Orphanet 54595 TPD-GO3DA4 Cushing disease 5A70.0 Orphanet 96253 TPD-GO6PQ8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GO7RYS Noonan syndrome LD2F.15 Orphanet 648 TPD-GO7RYS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GO7RYS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GO7RYS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GO7RYS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GO7RYS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GO7RYS Lynch syndrome 2B90.Y Orphanet 144 TPD-GO7RYS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GO7RYS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GO96FT Kennedy disease 8B61.4 Orphanet 481 TPD-GO96FT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GO96FT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GO96FT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GO9WJF Noonan syndrome LD2F.15 Orphanet 648 TPD-GO9WJF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GO9WJF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GO9WJF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GO9WJF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GO9WJF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GO9WJF Lynch syndrome 2B90.Y Orphanet 144 TPD-GO9WJF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GO9WJF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GO9X29 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-GO9X29 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-GO9X29 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-GOAQRZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GOAQRZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GOAQRZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GOAQRZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GOAQRZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GOAQRZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GOAQRZ Semantic dementia 6D83 Orphanet 100069 TPD-GOAQRZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GODK2A Kennedy disease 8B61.4 Orphanet 481 TPD-GODK2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GODK2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GODK2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GOFOAK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GOGNN3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GOGNN3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GOGPFR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GOGPFR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GOGPFR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GOGQQ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GOGQQ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GOGQQ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GOGQQ6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GOH8E5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GOH8E5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GOINDY Noonan syndrome LD2F.15 Orphanet 648 TPD-GOINDY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GOINDY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GOINDY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GOINDY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GOINDY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GOINDY Lynch syndrome 2B90.Y Orphanet 144 TPD-GOINDY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GOINDY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GOINOW Kennedy disease 8B61.4 Orphanet 481 TPD-GOINOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GOINOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GOINOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GOLMNI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GOLMNI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GOLMNI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GOLMNI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GOM17T Noonan syndrome LD2F.15 Orphanet 648 TPD-GOM17T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GOM17T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GOM17T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GOM17T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GOM17T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GOM17T Lynch syndrome 2B90.Y Orphanet 144 TPD-GOM17T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GOM17T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GOM9MU Kennedy disease 8B61.4 Orphanet 481 TPD-GOM9MU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GOM9MU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GOM9MU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GOMF9G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GOMF9G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GON90A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GON90A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GOO7PT Noonan syndrome LD2F.15 Orphanet 648 TPD-GOO7PT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GOO7PT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GOO7PT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GOO7PT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GOO7PT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GOO7PT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GOO7PT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GOO7PT Craniopharyngioma 2F9A Orphanet 54595 TPD-GOO7PT Cushing disease 5A70.0 Orphanet 96253 TPD-GOSO2T Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GP0RHI Kennedy disease 8B61.4 Orphanet 481 TPD-GP0RHI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GP0RHI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GP0RHI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GP1OUJ Noonan syndrome LD2F.15 Orphanet 648 TPD-GP1OUJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GP1OUJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GP1OUJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GP1OUJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GP1OUJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GP1OUJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GP1OUJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GP1OUJ Craniopharyngioma 2F9A Orphanet 54595 TPD-GP1OUJ Cushing disease 5A70.0 Orphanet 96253 TPD-GP2HI7 Noonan syndrome LD2F.15 Orphanet 648 TPD-GP2HI7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GP2HI7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GP2HI7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GP2HI7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GP2HI7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GP2HI7 Lynch syndrome 2B90.Y Orphanet 144 TPD-GP2HI7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GP2HI7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GP64UC Noonan syndrome LD2F.15 Orphanet 648 TPD-GP64UC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GP64UC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GP64UC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GP64UC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GP64UC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GP64UC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GP64UC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GP64UC Craniopharyngioma 2F9A Orphanet 54595 TPD-GP64UC Cushing disease 5A70.0 Orphanet 96253 TPD-GP8W5I Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GP8W5I Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GP8W5I Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GP8W5I Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GP8W5I Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GP8W5I Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GP8W5I Semantic dementia 6D83 Orphanet 100069 TPD-GP8W5I Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GP8YEK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GP8YEK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GPC91K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GPD14G Noonan syndrome LD2F.15 Orphanet 648 TPD-GPD14G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GPD14G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GPD14G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GPD14G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GPD14G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GPD14G Lynch syndrome 2B90.Y Orphanet 144 TPD-GPD14G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GPD14G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GPE9RN Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-GPEKW6 Familial melanoma QC61.Y Orphanet 618 TPD-GPEKW6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GPGWRJ Kennedy disease 8B61.4 Orphanet 481 TPD-GPGWRJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GPGWRJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GPGWRJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GPJYPX Familial melanoma QC61.Y Orphanet 618 TPD-GPJYPX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GPMFDN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GPMFDN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GPMFDN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GPN6CB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GPN6CB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GPN6CB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GPN6CB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GPN6CB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GPN6CB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GPN6CB Semantic dementia 6D83 Orphanet 100069 TPD-GPN6CB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GPTZER Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GPTZER Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GPZ0F2 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-GPZCVB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GQ2RRS Kennedy disease 8B61.4 Orphanet 481 TPD-GQ2RRS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQ2RRS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQ2RRS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQ2UGM Kennedy disease 8B61.4 Orphanet 481 TPD-GQ2UGM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQ2UGM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQ2UGM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQ63T0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GQ6HTW Familial melanoma QC61.Y Orphanet 618 TPD-GQ6HTW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GQ6PJV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GQ6PJV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GQ6PJV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GQ6PJV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GQ6PJV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GQ6PJV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GQ6PJV Semantic dementia 6D83 Orphanet 100069 TPD-GQ6PJV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GQ7KAX Noonan syndrome LD2F.15 Orphanet 648 TPD-GQ7KAX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GQ7KAX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GQ7KAX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GQ7KAX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GQ7KAX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GQ7KAX Lynch syndrome 2B90.Y Orphanet 144 TPD-GQ7KAX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GQ7KAX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GQ7OW3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GQ9YGE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GQ9YGE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GQJR7X Kennedy disease 8B61.4 Orphanet 481 TPD-GQJR7X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQJR7X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQJR7X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQOG3K Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-GQQ7G5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GQQ7G5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GQQ7G5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GQRRTO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GQRRTO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GQRZUI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GQRZUI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GQRZUI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GQS18G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GQS18G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GQS9LW Kennedy disease 8B61.4 Orphanet 481 TPD-GQS9LW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQS9LW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQS9LW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQTAE5 Noonan syndrome LD2F.15 Orphanet 648 TPD-GQTAE5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GQTAE5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GQTAE5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GQTAE5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GQTAE5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GQTAE5 Lynch syndrome 2B90.Y Orphanet 144 TPD-GQTAE5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GQTAE5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GQXWKR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GQYCUO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GQYCUO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GQZ0G0 Kennedy disease 8B61.4 Orphanet 481 TPD-GQZ0G0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQZ0G0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQZ0G0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQZ125 Kennedy disease 8B61.4 Orphanet 481 TPD-GQZ125 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GQZ125 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GQZ125 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GQZTKK Noonan syndrome LD2F.15 Orphanet 648 TPD-GQZTKK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GQZTKK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GQZTKK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GQZTKK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GQZTKK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GQZTKK Lynch syndrome 2B90.Y Orphanet 144 TPD-GQZTKK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GQZTKK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GR0QII Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GR0QII Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GR0QII Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GR2BW3 Noonan syndrome LD2F.15 Orphanet 648 TPD-GR2BW3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GR2BW3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GR2BW3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GR2BW3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GR2BW3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GR2BW3 Lynch syndrome 2B90.Y Orphanet 144 TPD-GR2BW3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GR2BW3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GR2GZ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GR3T24 Kennedy disease 8B61.4 Orphanet 481 TPD-GR3T24 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GR3T24 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GR3T24 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GR6MYA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-GR6QXQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GR6QXQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GR6QXQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GR6VJG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GR6VJG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GR7CI3 Noonan syndrome LD2F.15 Orphanet 648 TPD-GR7CI3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GR7CI3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GR7CI3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GR7CI3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GR7CI3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GR7CI3 Lynch syndrome 2B90.Y Orphanet 144 TPD-GR7CI3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GR7CI3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GRAQ3T Kennedy disease 8B61.4 Orphanet 481 TPD-GRAQ3T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GRAQ3T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GRAQ3T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GRAR38 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GRAR38 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GRAR38 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GRBT7W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GRC8Y7 Kennedy disease 8B61.4 Orphanet 481 TPD-GRC8Y7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GRC8Y7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GRC8Y7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GRCFHJ Noonan syndrome LD2F.15 Orphanet 648 TPD-GRCFHJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GRCFHJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GRCFHJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GRCFHJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GRCFHJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GRCFHJ Lynch syndrome 2B90.Y Orphanet 144 TPD-GRCFHJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GRCFHJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GRE7DX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GRI4UM Noonan syndrome LD2F.15 Orphanet 648 TPD-GRI4UM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GRI4UM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GRI4UM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GRI4UM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GRI4UM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GRI4UM Lynch syndrome 2B90.Y Orphanet 144 TPD-GRI4UM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GRI4UM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GROTPE Familial melanoma QC61.Y Orphanet 618 TPD-GROTPE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GRPK5P Kennedy disease 8B61.4 Orphanet 481 TPD-GRPK5P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GRPK5P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GRPK5P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GRSFRM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GRWGBY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GRWGBY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GRWGBY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GRXDI4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GRXSHM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GRYCMW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GRYFLT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GRYFLT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GS4TAY Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-GS4TAY MODY 5A13.6 Orphanet 552 TPD-GS4TAY Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-GS7WPR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GSCRZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-GSCRZ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GSCRZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GSCRZ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GSCRZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GSCRZ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GSCRZ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-GSCRZ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GSCRZ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GSCZ4Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GSCZ4Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GSEAJ9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GSEAJ9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GSEAJ9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GSEAJ9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GSJPW6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GSK8XG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GSK8XG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GSK8XG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GSKRKV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GSNRBS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GSNRBS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GSNZZG Noonan syndrome LD2F.15 Orphanet 648 TPD-GSNZZG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GSNZZG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GSNZZG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GSNZZG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GSNZZG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GSNZZG Lynch syndrome 2B90.Y Orphanet 144 TPD-GSNZZG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GSNZZG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GSOD7G Kennedy disease 8B61.4 Orphanet 481 TPD-GSOD7G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GSOD7G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GSOD7G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GSQ6AO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GSRQS9 Noonan syndrome LD2F.15 Orphanet 648 TPD-GSRQS9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GSRQS9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GSRQS9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GSRQS9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GSRQS9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GSRQS9 Lynch syndrome 2B90.Y Orphanet 144 TPD-GSRQS9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GSRQS9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GSV6DB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GSV6DB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GSV6DB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GSV7O8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GSV7O8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GSV7O8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GSW519 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GSY17E Kennedy disease 8B61.4 Orphanet 481 TPD-GSY17E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GSY17E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GSY17E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GT89OF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GT89OF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GT9R1D Kennedy disease 8B61.4 Orphanet 481 TPD-GT9R1D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GT9R1D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GT9R1D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GTAVOU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GTAVOU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GTAVOU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GTB72V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GTGJ12 Kennedy disease 8B61.4 Orphanet 481 TPD-GTGJ12 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GTGJ12 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GTGJ12 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GTH0A1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GTHZTM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GTHZTM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GTHZTM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GTLC8D Noonan syndrome LD2F.15 Orphanet 648 TPD-GTLC8D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GTLC8D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GTLC8D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GTLC8D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GTLC8D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GTLC8D Lynch syndrome 2B90.Y Orphanet 144 TPD-GTLC8D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GTLC8D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GTOSAN Noonan syndrome LD2F.15 Orphanet 648 TPD-GTOSAN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GTOSAN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GTOSAN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GTOSAN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GTOSAN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GTOSAN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GTOSAN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GTOSAN Craniopharyngioma 2F9A Orphanet 54595 TPD-GTOSAN Cushing disease 5A70.0 Orphanet 96253 TPD-GTOWRD Kennedy disease 8B61.4 Orphanet 481 TPD-GTOWRD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GTOWRD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GTOWRD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GTQARS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GTQARS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GTQARS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GTQXW4 Kennedy disease 8B61.4 Orphanet 481 TPD-GTQXW4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GTQXW4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GTQXW4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GTRZQG Familial melanoma QC61.Y Orphanet 618 TPD-GTRZQG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GTXBUT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GTXBUT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GU2LSY Kennedy disease 8B61.4 Orphanet 481 TPD-GU2LSY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GU2LSY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GU2LSY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GU5D0I Kennedy disease 8B61.4 Orphanet 481 TPD-GU5D0I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GU5D0I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GU5D0I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GU7CQS Noonan syndrome LD2F.15 Orphanet 648 TPD-GU7CQS Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-GU7NVO Noonan syndrome LD2F.15 Orphanet 648 TPD-GU7NVO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GU7NVO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GU7NVO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GU7NVO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GU7NVO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GU7NVO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GU7NVO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GU7NVO Craniopharyngioma 2F9A Orphanet 54595 TPD-GU7NVO Cushing disease 5A70.0 Orphanet 96253 TPD-GUB688 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-GUB688 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-GUB688 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-GUB688 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-GUB688 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-GUB688 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-GUB688 Semantic dementia 6D83 Orphanet 100069 TPD-GUB688 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-GUEKZN Noonan syndrome LD2F.15 Orphanet 648 TPD-GUEKZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GUEKZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GUEKZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GUEKZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GUEKZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GUEKZN Lynch syndrome 2B90.Y Orphanet 144 TPD-GUEKZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GUEKZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GUHO5O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GUHO5O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GUHO5O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GUHO5O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GUIKIK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GUMW5H Noonan syndrome LD2F.15 Orphanet 648 TPD-GUMW5H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GUMW5H Metachondromatosis LD24.2Y Orphanet 2499 TPD-GUMW5H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GUNAFB Noonan syndrome LD2F.15 Orphanet 648 TPD-GUNAFB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GUNAFB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GUNAFB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GUNAFB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GUNAFB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GUNAFB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GUNAFB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GUNAFB Craniopharyngioma 2F9A Orphanet 54595 TPD-GUNAFB Cushing disease 5A70.0 Orphanet 96253 TPD-GUNXYD Kennedy disease 8B61.4 Orphanet 481 TPD-GUNXYD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GUNXYD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GUNXYD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GUOPPU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GUOPPU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GUOPPU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GUOPPU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GUR1II Familial melanoma QC61.Y Orphanet 618 TPD-GUR1II Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GUSXIV Familial melanoma QC61.Y Orphanet 618 TPD-GUSXIV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GUTX3L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GUTX3L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GUTX3L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GUUN5U Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-GUW7S4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GUW7S4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GUW7S4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GUXSDJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GV0MJO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GV0MJO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GV0MJO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GV22QZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GV22QZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GV2V4Q Familial melanoma QC61.Y Orphanet 618 TPD-GV2V4Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GV30H6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GV9HOG Kennedy disease 8B61.4 Orphanet 481 TPD-GV9HOG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GV9HOG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GV9HOG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GVD626 Weaver syndrome LD2C Orphanet 3447 TPD-GVDB04 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GVDB04 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GVDB04 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GVG58P Weaver syndrome LD2C Orphanet 3447 TPD-GVHIPN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GVHIPN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GVN3WG Kennedy disease 8B61.4 Orphanet 481 TPD-GVN3WG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GVN3WG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GVN3WG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GVNOAA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-GVNOAA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-GVTWQ6 Kennedy disease 8B61.4 Orphanet 481 TPD-GVTWQ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GVTWQ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GVTWQ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GVUFF9 Noonan syndrome LD2F.15 Orphanet 648 TPD-GVUFF9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GVUFF9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GVUFF9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GVUFF9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GVUFF9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GVUFF9 Lynch syndrome 2B90.Y Orphanet 144 TPD-GVUFF9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GVUFF9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GVX4R1 Noonan syndrome LD2F.15 Orphanet 648 TPD-GVX4R1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GVX4R1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GVX4R1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GVX4R1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GVX4R1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GVX4R1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GVX4R1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GVX4R1 Craniopharyngioma 2F9A Orphanet 54595 TPD-GVX4R1 Cushing disease 5A70.0 Orphanet 96253 TPD-GVXBBK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GVXBBK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GVXBBK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GVXR4S Noonan syndrome LD2F.15 Orphanet 648 TPD-GVXR4S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GVXR4S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GVXR4S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GVXR4S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GVXR4S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GVXR4S Lynch syndrome 2B90.Y Orphanet 144 TPD-GVXR4S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GVXR4S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GVZCEV Kennedy disease 8B61.4 Orphanet 481 TPD-GVZCEV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GVZCEV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GVZCEV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GW0J79 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GW0OZS Familial melanoma QC61.Y Orphanet 618 TPD-GW0OZS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GW3QXX Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-GW3TOO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GW5XH6 Kennedy disease 8B61.4 Orphanet 481 TPD-GW5XH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GW5XH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GW5XH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GW663Z Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-GW8LOK Noonan syndrome LD2F.15 Orphanet 648 TPD-GW8LOK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GW8LOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GW8LOK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GW8LOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GW8LOK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GW8LOK Lynch syndrome 2B90.Y Orphanet 144 TPD-GW8LOK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GW8LOK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GWC7NX Kennedy disease 8B61.4 Orphanet 481 TPD-GWC7NX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWC7NX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWC7NX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWD5IH Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-GWFS7E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GWFS7E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GWFS7E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GWFU3I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GWI4UK Noonan syndrome LD2F.15 Orphanet 648 TPD-GWI4UK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GWI4UK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GWI4UK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GWI4UK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GWI4UK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GWI4UK Lynch syndrome 2B90.Y Orphanet 144 TPD-GWI4UK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GWI4UK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GWJ9VG Kennedy disease 8B61.4 Orphanet 481 TPD-GWJ9VG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWJ9VG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWJ9VG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWL7CY Kennedy disease 8B61.4 Orphanet 481 TPD-GWL7CY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWL7CY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWL7CY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWLJ4H Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GWMW4A Noonan syndrome LD2F.15 Orphanet 648 TPD-GWMW4A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GWMW4A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GWMW4A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GWMW4A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GWMW4A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GWMW4A Lynch syndrome 2B90.Y Orphanet 144 TPD-GWMW4A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GWMW4A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GWN0P9 Kennedy disease 8B61.4 Orphanet 481 TPD-GWN0P9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWN0P9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWN0P9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWQ215 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-GWQ215 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-GWQD12 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GWQD12 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GWQZAJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GWQZAJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GWQZAJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GWR68W Kennedy disease 8B61.4 Orphanet 481 TPD-GWR68W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWR68W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWR68W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWS61C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GWS61C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GWT7YV Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-GWVUR7 Kennedy disease 8B61.4 Orphanet 481 TPD-GWVUR7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GWVUR7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GWVUR7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GWW5I3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GWWWIX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GWWWIX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GWWWIX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GWXARH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-GWXARH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-GWXARH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-GWYH8Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GWYH8Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GWYH8Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GWYH8Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GX0E8Y Weaver syndrome LD2C Orphanet 3447 TPD-GX0X56 Kennedy disease 8B61.4 Orphanet 481 TPD-GX0X56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GX0X56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GX0X56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GX2GR3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GX2GR3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GX2GR3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GX2YEG Kennedy disease 8B61.4 Orphanet 481 TPD-GX2YEG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GX2YEG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GX2YEG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GX4M67 Kennedy disease 8B61.4 Orphanet 481 TPD-GX4M67 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GX4M67 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GX4M67 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GX5806 Achondroplasia LD24.00 Orphanet 15 TPD-GX5806 Hypochondroplasia LD24.01 Orphanet 429 TPD-GX5806 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-GX5806 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-GX5806 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-GX5806 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GX5806 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GX5806 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-GX5806 Muenke syndrome LD24.GY Orphanet 53271 TPD-GX5806 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-GX5806 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-GX5806 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-GX6LQB Noonan syndrome LD2F.15 Orphanet 648 TPD-GX6LQB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GX6LQB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GX6LQB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GX6LQB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GX6LQB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GX6LQB Lynch syndrome 2B90.Y Orphanet 144 TPD-GX6LQB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GX6LQB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GX7RLX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GXA7OA Kennedy disease 8B61.4 Orphanet 481 TPD-GXA7OA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GXA7OA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GXA7OA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GXCD3Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GXCPO5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GXCPO5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GXCPO5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GXE0QU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GXGC5U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GXGC5U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GXH57U Familial melanoma QC61.Y Orphanet 618 TPD-GXH57U Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GXHQ6J Noonan syndrome LD2F.15 Orphanet 648 TPD-GXHQ6J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GXHQ6J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GXHQ6J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GXHQ6J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GXHQ6J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GXHQ6J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GXHQ6J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GXHQ6J Craniopharyngioma 2F9A Orphanet 54595 TPD-GXHQ6J Cushing disease 5A70.0 Orphanet 96253 TPD-GXIELD Cystic fibrosis CA25 Orphanet 586 TPD-GXIELD Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-GXLNUV Kennedy disease 8B61.4 Orphanet 481 TPD-GXLNUV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GXLNUV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GXLNUV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GXM3P4 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-GXM3P4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GXM3P4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GXM3P4 Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-GXM3P4 Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-GXM3P4 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-GXM3P4 Osteosarcoma 2B51 Orphanet 668 TPD-GXM3P4 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-GXM3P4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GXM3P4 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-GXM3P4 Small cell lung cancer 2C25.1 Orphanet 70573 TPD-GXM3P4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GXM3P4 Cushing disease 5A70.0 Orphanet 96253 TPD-GXM3P4 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-GXM3P4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GXMBFZ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-GXOGG5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GXONXN Kennedy disease 8B61.4 Orphanet 481 TPD-GXONXN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GXONXN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GXONXN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GXT89C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GXUWG4 Familial melanoma QC61.Y Orphanet 618 TPD-GXUWG4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GXXYEY Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-GY30BE Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-GY7ZDV Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-GY8DOC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GYA3V7 Kennedy disease 8B61.4 Orphanet 481 TPD-GYA3V7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GYA3V7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GYA3V7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GYAMM5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GYAMM5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GYAR44 Noonan syndrome LD2F.15 Orphanet 648 TPD-GYAR44 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GYAR44 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GYAR44 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GYAR44 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GYAR44 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GYAR44 Lynch syndrome 2B90.Y Orphanet 144 TPD-GYAR44 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GYAR44 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GYB3ZV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-GYB3ZV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-GYDXIL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-GYDXIL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-GYDXIL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-GYG8TJ Familial melanoma QC61.Y Orphanet 618 TPD-GYG8TJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-GYJWZK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GYK956 Noonan syndrome LD2F.15 Orphanet 648 TPD-GYK956 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-GYK956 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-GYK956 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GYK956 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GYK956 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-GYK956 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-GYK956 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-GYK956 Craniopharyngioma 2F9A Orphanet 54595 TPD-GYK956 Cushing disease 5A70.0 Orphanet 96253 TPD-GYM4MR Kennedy disease 8B61.4 Orphanet 481 TPD-GYM4MR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GYM4MR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GYM4MR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GYOPAE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-GYP0U7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GYP0U7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GYP0U7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GYQY8D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-GYQZWM Kennedy disease 8B61.4 Orphanet 481 TPD-GYQZWM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GYQZWM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GYQZWM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GYRBSS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-GYSLII X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-GYSLII Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-GYV18F Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-GYVJHW Kennedy disease 8B61.4 Orphanet 481 TPD-GYVJHW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GYVJHW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GYVJHW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GYYGY1 Kennedy disease 8B61.4 Orphanet 481 TPD-GYYGY1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GYYGY1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GYYGY1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GZ5YAD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GZ5YAD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-GZ67CA Kennedy disease 8B61.4 Orphanet 481 TPD-GZ67CA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GZ67CA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GZ67CA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GZAN7I Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-GZFYIW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GZGL8L Noonan syndrome LD2F.15 Orphanet 648 TPD-GZGL8L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-GZGL8L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-GZGL8L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-GZGL8L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-GZGL8L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-GZGL8L Lynch syndrome 2B90.Y Orphanet 144 TPD-GZGL8L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-GZGL8L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-GZKA2R Kennedy disease 8B61.4 Orphanet 481 TPD-GZKA2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GZKA2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GZKA2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-GZXS2M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-GZXS2M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-GZXS2M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-GZXS2M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-GZZNNQ Kennedy disease 8B61.4 Orphanet 481 TPD-GZZNNQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-GZZNNQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-GZZNNQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H01ZDS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-H02WMK Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-H0AK6J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H0BIAF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H0BIAF Neuroblastoma 2A00.11 Orphanet 635 TPD-H0BIAF Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-H0BIAF ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-H0BIAF ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-H0CK6E Kennedy disease 8B61.4 Orphanet 481 TPD-H0CK6E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H0CK6E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H0CK6E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H0F1TY Noonan syndrome LD2F.15 Orphanet 648 TPD-H0F1TY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H0F1TY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H0F1TY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H0F1TY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H0F1TY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H0F1TY Lynch syndrome 2B90.Y Orphanet 144 TPD-H0F1TY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H0F1TY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H0KZLV Noonan syndrome LD2F.15 Orphanet 648 TPD-H0KZLV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H0KZLV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H0KZLV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H0KZLV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H0KZLV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H0KZLV Lynch syndrome 2B90.Y Orphanet 144 TPD-H0KZLV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H0KZLV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H0POCF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-H0S19N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H0S66F Noonan syndrome LD2F.15 Orphanet 648 TPD-H0S66F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H0S66F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H0S66F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H0S66F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H0S66F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H0S66F Lynch syndrome 2B90.Y Orphanet 144 TPD-H0S66F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H0S66F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H0V9UA Noonan syndrome LD2F.15 Orphanet 648 TPD-H0V9UA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H0V9UA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H0V9UA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H0V9UA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H0V9UA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H0V9UA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H0V9UA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H0V9UA Craniopharyngioma 2F9A Orphanet 54595 TPD-H0V9UA Cushing disease 5A70.0 Orphanet 96253 TPD-H0W06Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H0W06Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-H0YGBJ Kennedy disease 8B61.4 Orphanet 481 TPD-H0YGBJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H0YGBJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H0YGBJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H10PXO Kennedy disease 8B61.4 Orphanet 481 TPD-H10PXO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H10PXO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H10PXO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H119DW Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-H11PBU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H11PBU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H11PBU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H11PBU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H12M37 Noonan syndrome LD2F.15 Orphanet 648 TPD-H12M37 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H12M37 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H12M37 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H12M37 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H12M37 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H12M37 Lynch syndrome 2B90.Y Orphanet 144 TPD-H12M37 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H12M37 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H12V5O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H12V5O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H12V5O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H149EB Familial melanoma QC61.Y Orphanet 618 TPD-H149EB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H15E5M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H15E5M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H15E5M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H17CES Kennedy disease 8B61.4 Orphanet 481 TPD-H17CES Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H17CES Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H17CES Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H17ZE0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-H17ZE0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-H17ZE0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-H17ZE0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-H17ZE0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-H17ZE0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-H17ZE0 Semantic dementia 6D83 Orphanet 100069 TPD-H17ZE0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-H19NZR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H1BFY0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H1BFY0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H1D2MJ Noonan syndrome LD2F.15 Orphanet 648 TPD-H1D2MJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H1D2MJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H1D2MJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H1D2MJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H1D2MJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H1D2MJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H1D2MJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H1D2MJ Craniopharyngioma 2F9A Orphanet 54595 TPD-H1D2MJ Cushing disease 5A70.0 Orphanet 96253 TPD-H1EGQ6 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-H1EPGN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H1EPGN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H1EPGN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H1FSZU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H1FSZU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H1FSZU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H1G316 Kennedy disease 8B61.4 Orphanet 481 TPD-H1G316 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H1G316 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H1G316 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H1HFWJ Kennedy disease 8B61.4 Orphanet 481 TPD-H1HFWJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H1HFWJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H1HFWJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H1HNXF Noonan syndrome LD2F.15 Orphanet 648 TPD-H1HNXF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H1HNXF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H1HNXF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H1HNXF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H1HNXF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H1HNXF Lynch syndrome 2B90.Y Orphanet 144 TPD-H1HNXF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H1HNXF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H1KGNK Kennedy disease 8B61.4 Orphanet 481 TPD-H1KGNK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H1KGNK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H1KGNK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H1MWCI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H1MWCI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-H1MWCI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H1O9CX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H1O9CX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-H1O9CX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H1R0IR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H1T1IQ Noonan syndrome LD2F.15 Orphanet 648 TPD-H1T1IQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H1T1IQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H1T1IQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H1T1IQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H1T1IQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H1T1IQ Lynch syndrome 2B90.Y Orphanet 144 TPD-H1T1IQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H1T1IQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H1TDEI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H1TDEI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H1TDEI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H1TDEI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H1WY6M Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-H1YOZO Noonan syndrome LD2F.15 Orphanet 648 TPD-H1YOZO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H1YOZO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H1YOZO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H1YOZO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H1YOZO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H1YOZO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H1YOZO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H1YOZO Craniopharyngioma 2F9A Orphanet 54595 TPD-H1YOZO Cushing disease 5A70.0 Orphanet 96253 TPD-H1YYQF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H2105H Noonan syndrome LD2F.15 Orphanet 648 TPD-H2105H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H2105H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H2105H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H2105H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H2105H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H2105H Lynch syndrome 2B90.Y Orphanet 144 TPD-H2105H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H2105H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H21V2A Kennedy disease 8B61.4 Orphanet 481 TPD-H21V2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H21V2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H21V2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H24WWY Noonan syndrome LD2F.15 Orphanet 648 TPD-H24WWY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H24WWY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H24WWY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H24WWY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H24WWY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H24WWY Lynch syndrome 2B90.Y Orphanet 144 TPD-H24WWY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H24WWY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H276AB Hirschsprung disease LB16.1 Orphanet 388 TPD-H276AB Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-H276AB Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-H277UZ Familial melanoma QC61.Y Orphanet 618 TPD-H277UZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H291Z8 Kennedy disease 8B61.4 Orphanet 481 TPD-H291Z8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H291Z8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H291Z8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H2B75G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-H2BLPR Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-H2CNMG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H2CNMG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-H2D29U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H2D29U Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-H2D29U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H2DU9I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H2DU9I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H2DU9I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H2ERRZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H2IDVO Noonan syndrome LD2F.15 Orphanet 648 TPD-H2IDVO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H2IDVO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H2IDVO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H2IDVO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H2IDVO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H2IDVO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H2IDVO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H2IDVO Craniopharyngioma 2F9A Orphanet 54595 TPD-H2IDVO Cushing disease 5A70.0 Orphanet 96253 TPD-H2JI0N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H2KUCT Kennedy disease 8B61.4 Orphanet 481 TPD-H2KUCT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H2KUCT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H2KUCT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H2L85U Kennedy disease 8B61.4 Orphanet 481 TPD-H2L85U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H2L85U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H2L85U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H2NT3E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H2Z9KL Familial melanoma QC61.Y Orphanet 618 TPD-H2Z9KL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H30979 Kennedy disease 8B61.4 Orphanet 481 TPD-H30979 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H30979 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H30979 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H31F3F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H31F3F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H324MG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H324MG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H33M4E Kennedy disease 8B61.4 Orphanet 481 TPD-H33M4E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H33M4E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H33M4E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H34HBI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H34HBI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-H35RF4 Noonan syndrome LD2F.15 Orphanet 648 TPD-H35RF4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H35RF4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H35RF4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H35RF4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H35RF4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H35RF4 Lynch syndrome 2B90.Y Orphanet 144 TPD-H35RF4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H35RF4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H36FEP STING-associated vasculopathy with onset in infancy 4A44.Y Orphanet 425120 TPD-H3BH75 Noonan syndrome LD2F.15 Orphanet 648 TPD-H3BH75 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H3BH75 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H3BH75 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H3BH75 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H3BH75 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H3BH75 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H3BH75 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H3BH75 Craniopharyngioma 2F9A Orphanet 54595 TPD-H3BH75 Cushing disease 5A70.0 Orphanet 96253 TPD-H3BI3V Familial melanoma QC61.Y Orphanet 618 TPD-H3BI3V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H3F6I9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H3JM9I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H3JM9I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H3ODWD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H3ODWD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-H3ODWD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H3OJN0 Familial melanoma QC61.Y Orphanet 618 TPD-H3WI8D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H4167J Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-H45JFP Kennedy disease 8B61.4 Orphanet 481 TPD-H45JFP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H45JFP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H45JFP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H476TB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H476TB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H4AV9L Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H4E0GX Kennedy disease 8B61.4 Orphanet 481 TPD-H4E0GX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H4E0GX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H4E0GX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H4FU2Z Kennedy disease 8B61.4 Orphanet 481 TPD-H4FU2Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H4FU2Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H4FU2Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H4FU2Z Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-H4FU2Z Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-H4FU2Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-H4FU2Z Distal myopathy, Welander type 8C75 Orphanet 603 TPD-H4H1YO Noonan syndrome LD2F.15 Orphanet 648 TPD-H4H1YO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H4H1YO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4H1YO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H4H1YO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4H1YO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H4H1YO Lynch syndrome 2B90.Y Orphanet 144 TPD-H4H1YO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H4H1YO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H4H7GS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-H4O81S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H4O81S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H4O81S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H4OEBV Noonan syndrome LD2F.15 Orphanet 648 TPD-H4OEBV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H4OEBV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4OEBV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H4OEBV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4OEBV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H4OEBV Lynch syndrome 2B90.Y Orphanet 144 TPD-H4OEBV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H4OEBV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H4P0SW Noonan syndrome LD2F.15 Orphanet 648 TPD-H4P0SW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H4P0SW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4P0SW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H4P0SW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4P0SW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H4P0SW Lynch syndrome 2B90.Y Orphanet 144 TPD-H4P0SW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H4P0SW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H4RLX4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H4RLX4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H4RLX4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H4RLX4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H4T2XN Noonan syndrome LD2F.15 Orphanet 648 TPD-H4T2XN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H4T2XN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4T2XN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H4T2XN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4T2XN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H4T2XN Lynch syndrome 2B90.Y Orphanet 144 TPD-H4T2XN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H4T2XN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H4TJHG Familial melanoma QC61.Y Orphanet 618 TPD-H4TJHG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H4TWW1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-H4V1EM Kennedy disease 8B61.4 Orphanet 481 TPD-H4V1EM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H4V1EM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H4V1EM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H4WN6T Noonan syndrome LD2F.15 Orphanet 648 TPD-H4WN6T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H4WN6T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H4WN6T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4WN6T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4WN6T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H4WN6T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H4WN6T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H4WN6T Craniopharyngioma 2F9A Orphanet 54595 TPD-H4WN6T Cushing disease 5A70.0 Orphanet 96253 TPD-H4X35P Noonan syndrome LD2F.15 Orphanet 648 TPD-H4X35P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H4X35P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H4X35P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H4X35P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H4X35P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H4X35P Lynch syndrome 2B90.Y Orphanet 144 TPD-H4X35P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H4X35P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H4YWST Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-H4YWST Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-H4YWST Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-H4YWST Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-H4YWST Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-H542DW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H542DW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H542DW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H542DW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H5686H Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-H58IYS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-H59MXO Kennedy disease 8B61.4 Orphanet 481 TPD-H59MXO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H59MXO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H59MXO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5BOBW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H5CFY7 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-H5CQHM Familial melanoma QC61.Y Orphanet 618 TPD-H5CQHM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H5D0IK Kennedy disease 8B61.4 Orphanet 481 TPD-H5D0IK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H5D0IK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H5D0IK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5DPHO Kennedy disease 8B61.4 Orphanet 481 TPD-H5DPHO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H5DPHO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H5DPHO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5F9N4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H5F9N4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H5F9N4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H5F9QZ Kennedy disease 8B61.4 Orphanet 481 TPD-H5F9QZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H5F9QZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H5F9QZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5FST4 Achondroplasia LD24.00 Orphanet 15 TPD-H5FST4 Hypochondroplasia LD24.01 Orphanet 429 TPD-H5FST4 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-H5FST4 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-H5FST4 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-H5FST4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H5FST4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H5FST4 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-H5FST4 Muenke syndrome LD24.GY Orphanet 53271 TPD-H5FST4 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-H5FST4 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-H5FST4 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-H5M3XT Noonan syndrome LD2F.15 Orphanet 648 TPD-H5M3XT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H5M3XT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H5M3XT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H5M3XT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H5M3XT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H5M3XT Lynch syndrome 2B90.Y Orphanet 144 TPD-H5M3XT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H5M3XT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H5MUHB Kennedy disease 8B61.4 Orphanet 481 TPD-H5MUHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H5MUHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H5MUHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5S9C8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H5S9C8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H5T59G Kennedy disease 8B61.4 Orphanet 481 TPD-H5T59G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H5T59G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H5T59G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H5WS51 Noonan syndrome LD2F.15 Orphanet 648 TPD-H5WS51 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H5WS51 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H5WS51 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H5WS51 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H5WS51 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H5WS51 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H5WS51 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H5WS51 Craniopharyngioma 2F9A Orphanet 54595 TPD-H5WS51 Cushing disease 5A70.0 Orphanet 96253 TPD-H5YY14 Noonan syndrome LD2F.15 Orphanet 648 TPD-H5YY14 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H5YY14 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H5YY14 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H5YY14 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H5YY14 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H5YY14 Lynch syndrome 2B90.Y Orphanet 144 TPD-H5YY14 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H5YY14 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H5Z3PN Familial melanoma QC61.Y Orphanet 618 TPD-H5Z3PN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H60OPY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-H60OPY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-H62EE7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-H62EE7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-H62EE7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-H62EE7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-H62EE7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-H62EE7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-H62EE7 Semantic dementia 6D83 Orphanet 100069 TPD-H62EE7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-H6368K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H6368K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H6368K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H67ENL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H683NI Kennedy disease 8B61.4 Orphanet 481 TPD-H683NI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H683NI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H683NI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H6FAOG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H6FAOG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H6FAOG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H6FAOG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H6IV9V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H6IV9V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H6JO63 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H6JO63 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H6JO63 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H6JO63 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H6OC5S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H6OC5S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H6OC5S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H6QX8G Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H6RUU4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H6S3UU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H6S3UU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H6S3UU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H6ZQDO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H6ZQDO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H6ZQDO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H74NEI Kennedy disease 8B61.4 Orphanet 481 TPD-H74NEI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H74NEI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H74NEI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H750GN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H750GN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H750GN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H750GN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H75DYE Kennedy disease 8B61.4 Orphanet 481 TPD-H75DYE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H75DYE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H75DYE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H78I9K Noonan syndrome LD2F.15 Orphanet 648 TPD-H78I9K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H78I9K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H78I9K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H78I9K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H78I9K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H78I9K Lynch syndrome 2B90.Y Orphanet 144 TPD-H78I9K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H78I9K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H79607 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H7ATR6 Kennedy disease 8B61.4 Orphanet 481 TPD-H7ATR6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H7ATR6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H7ATR6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H7DJ9E Noonan syndrome LD2F.15 Orphanet 648 TPD-H7DJ9E Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-H7EBG2 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-H7F05V Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-H7F05V Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-H7F05V Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-H7F05V Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-H7F05V Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-H7F05V Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-H7F05V Semantic dementia 6D83 Orphanet 100069 TPD-H7F05V Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-H7G62Z Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-H7OH2V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H7OH2V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H7OH2V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H7OH2V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H7VVGR Kennedy disease 8B61.4 Orphanet 481 TPD-H7VVGR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H7VVGR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H7VVGR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H7XLVC Kennedy disease 8B61.4 Orphanet 481 TPD-H7XLVC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H7XLVC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H7XLVC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H80NLZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H80NLZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H80NLZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H80NLZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H83SHJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H86KFT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H86KFT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H87ABN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H87ABN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H87ABN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H87HEE Cystic fibrosis CA25 Orphanet 586 TPD-H87HEE Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-H8CD9L Kennedy disease 8B61.4 Orphanet 481 TPD-H8CD9L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H8CD9L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H8CD9L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H8DL5E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H8FGU0 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-H8FGU0 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-H8FGU0 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-H8FJDT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-H8FJDT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-H8FJDT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-H8FJDT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-H8OIDH Familial melanoma QC61.Y Orphanet 618 TPD-H8OIDH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H8PQFN Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-H8PVB3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H8QLWE Kennedy disease 8B61.4 Orphanet 481 TPD-H8QLWE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H8QLWE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H8QLWE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H8S6JP Kennedy disease 8B61.4 Orphanet 481 TPD-H8S6JP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H8S6JP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H8S6JP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H8T5R6 Noonan syndrome LD2F.15 Orphanet 648 TPD-H8T5R6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H8T5R6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H8T5R6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H8T5R6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H8T5R6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H8T5R6 Lynch syndrome 2B90.Y Orphanet 144 TPD-H8T5R6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H8T5R6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H8VF2T Kennedy disease 8B61.4 Orphanet 481 TPD-H8VF2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H8VF2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H8VF2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H8W9EY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-H90DKB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H90DKB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H90DKB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H93WDE Noonan syndrome LD2F.15 Orphanet 648 TPD-H93WDE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H93WDE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H93WDE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H93WDE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H93WDE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H93WDE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H93WDE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H93WDE Craniopharyngioma 2F9A Orphanet 54595 TPD-H93WDE Cushing disease 5A70.0 Orphanet 96253 TPD-H97GCA Kennedy disease 8B61.4 Orphanet 481 TPD-H97GCA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H97GCA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H97GCA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H99XA7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-H9AUZO Kennedy disease 8B61.4 Orphanet 481 TPD-H9AUZO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H9AUZO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H9AUZO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H9CT48 Noonan syndrome LD2F.15 Orphanet 648 TPD-H9CT48 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H9CT48 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H9CT48 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H9CT48 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H9CT48 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H9CT48 Lynch syndrome 2B90.Y Orphanet 144 TPD-H9CT48 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H9CT48 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H9CTW2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H9CTW2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-H9EA0U Kennedy disease 8B61.4 Orphanet 481 TPD-H9EA0U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H9EA0U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H9EA0U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H9PLSO Noonan syndrome LD2F.15 Orphanet 648 TPD-H9PLSO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-H9PLSO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-H9PLSO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H9PLSO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H9PLSO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-H9PLSO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-H9PLSO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-H9PLSO Craniopharyngioma 2F9A Orphanet 54595 TPD-H9PLSO Cushing disease 5A70.0 Orphanet 96253 TPD-H9PXTS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-H9PXTS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-H9PXTS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-H9TNOG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-H9TNOG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-H9VU62 Familial melanoma QC61.Y Orphanet 618 TPD-H9VU62 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-H9WP47 Kennedy disease 8B61.4 Orphanet 481 TPD-H9WP47 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-H9WP47 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-H9WP47 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-H9YNN1 Noonan syndrome LD2F.15 Orphanet 648 TPD-H9YNN1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-H9YNN1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-H9YNN1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-H9YNN1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-H9YNN1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-H9YNN1 Lynch syndrome 2B90.Y Orphanet 144 TPD-H9YNN1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-H9YNN1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-H9ZDEO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H9ZDEO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HA31B7 Noonan syndrome LD2F.15 Orphanet 648 TPD-HA31B7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HA31B7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HA31B7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HA31B7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HA31B7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HA31B7 Lynch syndrome 2B90.Y Orphanet 144 TPD-HA31B7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HA31B7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HA3HD7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HA6L0D Noonan syndrome LD2F.15 Orphanet 648 TPD-HA6L0D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HA6L0D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HA6L0D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HA6L0D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HA6L0D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HA6L0D Lynch syndrome 2B90.Y Orphanet 144 TPD-HA6L0D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HA6L0D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HA7HU7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HA7HU7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HA7HU7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HAFL2F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HAFL2F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HAFL2F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HAGYE9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HAGYE9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HAGYE9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HAKPLW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HAKPLW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HAKPLW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HAKPLW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HAL5FZ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-HAL5FZ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-HAL5FZ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-HAL5FZ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-HAL5FZ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-HAL5FZ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-HAL5FZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HAL5FZ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-HAL5FZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HAT6B5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-HAV3RA Noonan syndrome LD2F.15 Orphanet 648 TPD-HAV3RA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HAV3RA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HAV3RA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HAV3RA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HAV3RA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HAV3RA Lynch syndrome 2B90.Y Orphanet 144 TPD-HAV3RA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HAV3RA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HAW2C4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HAW2C4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HAW2C4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HB04WR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HB04WR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HB04WR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HB04WR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HB298H Kennedy disease 8B61.4 Orphanet 481 TPD-HB298H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HB298H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HB298H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HB2BIU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HB2BIU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HB3V0N Noonan syndrome LD2F.15 Orphanet 648 TPD-HB3V0N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HB3V0N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HB3V0N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HB3V0N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HB3V0N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HB3V0N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HB3V0N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HB3V0N Craniopharyngioma 2F9A Orphanet 54595 TPD-HB3V0N Cushing disease 5A70.0 Orphanet 96253 TPD-HBAEAK Noonan syndrome LD2F.15 Orphanet 648 TPD-HBAEAK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HBAEAK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HBAEAK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HBAEAK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HBAEAK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HBAEAK Lynch syndrome 2B90.Y Orphanet 144 TPD-HBAEAK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HBAEAK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HBEABJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HBEVNW Noonan syndrome LD2F.15 Orphanet 648 TPD-HBEVNW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HBEVNW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HBEVNW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HBEVNW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HBEVNW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HBEVNW Lynch syndrome 2B90.Y Orphanet 144 TPD-HBEVNW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HBEVNW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HBJOLX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HBKFXG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HBKFXG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HBKFXG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HBKFXG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HBLGRK Noonan syndrome LD2F.15 Orphanet 648 TPD-HBLGRK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HBLGRK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HBLGRK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HBLGRK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HBLGRK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HBLGRK Lynch syndrome 2B90.Y Orphanet 144 TPD-HBLGRK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HBLGRK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HBLRS5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HBLRS5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HBNXL0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HBNXL0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HBQCGP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HBQCGP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HBQCGP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HBQCGP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HBQV8Z Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HBQV8Z Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HBQV8Z Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HBU2AJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HBU2AJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HBYALR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HBZCPV Kennedy disease 8B61.4 Orphanet 481 TPD-HBZCPV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HBZCPV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HBZCPV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HC14L8 Kennedy disease 8B61.4 Orphanet 481 TPD-HC14L8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HC14L8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HC14L8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HC1LG8 Noonan syndrome LD2F.15 Orphanet 648 TPD-HC1LG8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HC1LG8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HC1LG8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HC1LG8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HC1LG8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HC1LG8 Lynch syndrome 2B90.Y Orphanet 144 TPD-HC1LG8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HC1LG8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HC9DU8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HC9DU8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HC9DU8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HCA597 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HCCHK2 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HCCHK2 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HCCVLO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HCCVLO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HCCVLO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HCCVLO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HCEZBA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HCH4JN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HCOASM Noonan syndrome LD2F.15 Orphanet 648 TPD-HCOASM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HCOASM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HCOASM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HCOASM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HCOASM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HCOASM Lynch syndrome 2B90.Y Orphanet 144 TPD-HCOASM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HCOASM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HCPQLT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HCS21K Kennedy disease 8B61.4 Orphanet 481 TPD-HCS21K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HCS21K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HCS21K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HCSU6A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HCSU6A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HCSU6A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HCSU6A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HCV9TW Noonan syndrome LD2F.15 Orphanet 648 TPD-HCV9TW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HCV9TW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HCV9TW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HCV9TW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HCV9TW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HCV9TW Lynch syndrome 2B90.Y Orphanet 144 TPD-HCV9TW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HCV9TW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HCWOST Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HCWOST Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HCWOST Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HD1YDP Kennedy disease 8B61.4 Orphanet 481 TPD-HD1YDP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HD1YDP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HD1YDP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HD605P Noonan syndrome LD2F.15 Orphanet 648 TPD-HD605P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HD605P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HD605P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HD605P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HD605P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HD605P Lynch syndrome 2B90.Y Orphanet 144 TPD-HD605P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HD605P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HD7KCF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HD9SPT Kennedy disease 8B61.4 Orphanet 481 TPD-HD9SPT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HD9SPT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HD9SPT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HDBATM Kennedy disease 8B61.4 Orphanet 481 TPD-HDBATM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HDBATM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HDBATM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HDDQ11 Noonan syndrome LD2F.15 Orphanet 648 TPD-HDDQ11 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HDDQ11 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HDDQ11 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HDDQ11 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HDDQ11 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HDDQ11 Lynch syndrome 2B90.Y Orphanet 144 TPD-HDDQ11 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HDDQ11 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HDDWSL Kennedy disease 8B61.4 Orphanet 481 TPD-HDDWSL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HDDWSL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HDDWSL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HDECC1 Familial melanoma QC61.Y Orphanet 618 TPD-HDECC1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HDGWTF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HDKPE2 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-HDN9LL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HDN9LL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HDNWAO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HDNWAO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HDNWAO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HDNWAO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HDO0XL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HDO0XL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HDO0XL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HDO0XL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HDR8DR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HDR8DR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HDR8DR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HDR8DR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HDRYVZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HDTLTB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HDTLTB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HDTLTB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HDTPAM Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-HDU8KA Noonan syndrome LD2F.15 Orphanet 648 TPD-HDU8KA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HDU8KA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HDU8KA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HDU8KA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HDU8KA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HDU8KA Lynch syndrome 2B90.Y Orphanet 144 TPD-HDU8KA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HDU8KA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HDW9WG Kennedy disease 8B61.4 Orphanet 481 TPD-HDW9WG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HDW9WG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HDW9WG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HDX1UJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HE2S58 Noonan syndrome LD2F.15 Orphanet 648 TPD-HE2S58 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HE2S58 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HE2S58 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HE2S58 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HE2S58 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HE2S58 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HE2S58 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HE2S58 Craniopharyngioma 2F9A Orphanet 54595 TPD-HE2S58 Cushing disease 5A70.0 Orphanet 96253 TPD-HE45SC Kennedy disease 8B61.4 Orphanet 481 TPD-HE45SC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HE45SC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HE45SC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HE4ZKW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HE4ZKW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HE4ZKW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HE4ZKW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HE5KOR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HE5KOR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HE6MB6 Kennedy disease 8B61.4 Orphanet 481 TPD-HE6MB6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HE6MB6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HE6MB6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HE83F1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HE8VL9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HEBQTJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HEBQTJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HEBQTJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HEBQTJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HEBQTJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HEBQTJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HEBQTJ Lynch syndrome 2B90.Y Orphanet 144 TPD-HEBQTJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HEBQTJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HEDOJB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HEDU9M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HEDU9M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HEDU9M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HEDU9M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HEEGM4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HEFDL2 Kennedy disease 8B61.4 Orphanet 481 TPD-HEFDL2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HEFDL2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HEFDL2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HEINHJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HEINHJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HEINHJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HEIPES Kennedy disease 8B61.4 Orphanet 481 TPD-HEIPES Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HEIPES Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HEIPES Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HEJK75 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HEJK75 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HEKC74 Kennedy disease 8B61.4 Orphanet 481 TPD-HEKC74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HEKC74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HEKC74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HEM71P Noonan syndrome LD2F.15 Orphanet 648 TPD-HEM71P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HEM71P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HEM71P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HEM71P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HEM71P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HEM71P Lynch syndrome 2B90.Y Orphanet 144 TPD-HEM71P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HEM71P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HEO6KV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HEO6KV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HEO6KV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HEOCYU Noonan syndrome LD2F.15 Orphanet 648 TPD-HEOCYU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HEOCYU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HEOCYU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HEOCYU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HEOCYU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HEOCYU Lynch syndrome 2B90.Y Orphanet 144 TPD-HEOCYU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HEOCYU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HEOID3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HEUZ57 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-HEYK2Y Noonan syndrome LD2F.15 Orphanet 648 TPD-HEYK2Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HEYK2Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HEYK2Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HEYK2Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HEYK2Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HEYK2Y Lynch syndrome 2B90.Y Orphanet 144 TPD-HEYK2Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HEYK2Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HEZ5J8 Noonan syndrome LD2F.15 Orphanet 648 TPD-HEZ5J8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HEZ5J8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HEZ5J8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HEZ5J8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HEZ5J8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HEZ5J8 Lynch syndrome 2B90.Y Orphanet 144 TPD-HEZ5J8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HEZ5J8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HF1H6B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HF29M7 Kennedy disease 8B61.4 Orphanet 481 TPD-HF29M7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HF29M7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HF29M7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HF37JS Noonan syndrome LD2F.15 Orphanet 648 TPD-HF37JS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HF37JS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HF37JS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HF37JS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HF37JS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HF37JS Lynch syndrome 2B90.Y Orphanet 144 TPD-HF37JS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HF37JS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HF3BF5 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-HF3D1B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HF5F9R Noonan syndrome LD2F.15 Orphanet 648 TPD-HF5F9R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HF5F9R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HF5F9R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HF5F9R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HF5F9R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HF5F9R Lynch syndrome 2B90.Y Orphanet 144 TPD-HF5F9R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HF5F9R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HFDQ6U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HFDQ6U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HFET2H Burkitt lymphoma XH4KA9 Orphanet 543 TPD-HFET2H Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HFGK2W Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-HFGK2W Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-HFGK2W Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-HFGK2W Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-HFGK2W Primary myelofibrosis 2A20.2 Orphanet 824 TPD-HFGK2W Polycythemia vera 2A20.4 Orphanet 729 TPD-HFGK2W Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-HFGLD5 Noonan syndrome LD2F.15 Orphanet 648 TPD-HFGLD5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HFGLD5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HFGLD5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HFGLD5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HFGLD5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HFGLD5 Lynch syndrome 2B90.Y Orphanet 144 TPD-HFGLD5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HFGLD5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HFHITL Kennedy disease 8B61.4 Orphanet 481 TPD-HFHITL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HFHITL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HFHITL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HFI5FO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HFI5FO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HFIVW3 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-HFIVW3 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-HFIVW3 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-HFIVW3 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-HFIVW3 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-HFIVW3 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-HFIVW3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HFIVW3 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-HFIVW3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HFO48G Noonan syndrome LD2F.15 Orphanet 648 TPD-HFO48G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HFO48G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HFO48G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HFO48G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HFO48G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HFO48G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HFO48G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HFO48G Craniopharyngioma 2F9A Orphanet 54595 TPD-HFO48G Cushing disease 5A70.0 Orphanet 96253 TPD-HFP3MW Noonan syndrome LD2F.15 Orphanet 648 TPD-HFP3MW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HFP3MW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HFP3MW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HFP3MW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HFP3MW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HFP3MW Lynch syndrome 2B90.Y Orphanet 144 TPD-HFP3MW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HFP3MW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HFPL8O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HFPL8O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HFTVY7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HFTVY7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HFUDL4 Noonan syndrome LD2F.15 Orphanet 648 TPD-HFUDL4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HFUDL4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HFUDL4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HFUDL4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HFUDL4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HFUDL4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HFUDL4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HFUDL4 Craniopharyngioma 2F9A Orphanet 54595 TPD-HFUDL4 Cushing disease 5A70.0 Orphanet 96253 TPD-HFV5ED Familial melanoma QC61.Y Orphanet 618 TPD-HFV5ED Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HFZPDG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HFZPDG Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HFZPDG Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HFZPDG Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HFZPDG Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HFZPDG Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HFZPDG Semantic dementia 6D83 Orphanet 100069 TPD-HFZPDG Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HG437P Kennedy disease 8B61.4 Orphanet 481 TPD-HG437P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HG437P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HG437P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HGAMJH Noonan syndrome LD2F.15 Orphanet 648 TPD-HGAMJH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HGAMJH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HGAMJH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HGAMJH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HGAMJH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HGAMJH Lynch syndrome 2B90.Y Orphanet 144 TPD-HGAMJH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HGAMJH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HGFP89 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HGJDVC Kennedy disease 8B61.4 Orphanet 481 TPD-HGJDVC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HGJDVC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HGJDVC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HGL10C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HGL10C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HGL10C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HGL10C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HGRHAX Noonan syndrome LD2F.15 Orphanet 648 TPD-HGRHAX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HGRHAX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HGRHAX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HGRHAX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HGRHAX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HGRHAX Lynch syndrome 2B90.Y Orphanet 144 TPD-HGRHAX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HGRHAX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HGSI98 Familial melanoma QC61.Y Orphanet 618 TPD-HGSI98 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HGT46N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HGT46N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HGT46N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HGT46N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HGT9A3 Noonan syndrome LD2F.15 Orphanet 648 TPD-HGT9A3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HGT9A3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HGT9A3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HGT9A3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HGT9A3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HGT9A3 Lynch syndrome 2B90.Y Orphanet 144 TPD-HGT9A3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HGT9A3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HGTS63 Familial melanoma QC61.Y Orphanet 618 TPD-HGTS63 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HGVS4C Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-HGVS4C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HGVS4C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HGVS4C Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-HGVS4C Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-HGVS4C Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-HGVS4C Osteosarcoma 2B51 Orphanet 668 TPD-HGVS4C Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-HGVS4C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HGVS4C Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-HGVS4C Small cell lung cancer 2C25.1 Orphanet 70573 TPD-HGVS4C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HGVS4C Cushing disease 5A70.0 Orphanet 96253 TPD-HGVS4C Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-HGVS4C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HGWD41 Noonan syndrome LD2F.15 Orphanet 648 TPD-HGWD41 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HGWD41 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HGWD41 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HGWD41 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HGWD41 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HGWD41 Lynch syndrome 2B90.Y Orphanet 144 TPD-HGWD41 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HGWD41 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HGYOSP Familial melanoma QC61.Y Orphanet 618 TPD-HGZVJZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HGZVJZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HH0A3W Burkitt lymphoma XH4KA9 Orphanet 543 TPD-HH0A3W Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HH5YWW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HH5YWW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HH996P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HH9M6F Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HH9M6F Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HHERC5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HHERC5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HHERC5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HHERC5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HHERC5 Neuroblastoma 2A00.11 Orphanet 635 TPD-HHERC5 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-HHERC5 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-HHERC5 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-HHERC5 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-HHHDQE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HHHDQE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HHJM2B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HHJYFD Familial melanoma QC61.Y Orphanet 618 TPD-HHJYFD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HHNFMG Noonan syndrome LD2F.15 Orphanet 648 TPD-HHNFMG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HHNFMG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HHNFMG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HHNFMG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HHNFMG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HHNFMG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HHNFMG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HHNFMG Craniopharyngioma 2F9A Orphanet 54595 TPD-HHNFMG Cushing disease 5A70.0 Orphanet 96253 TPD-HHNJ6R Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-HHNJ6R Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-HHNJ6R Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-HHNJ6R Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-HHNJ6R Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-HHOBLE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HHOBLE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HHOBLE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HHQA5U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HHQA5U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HHQA5U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HHQA5U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HHSAZC Kennedy disease 8B61.4 Orphanet 481 TPD-HHSAZC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HHSAZC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HHSAZC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HHTCPU Noonan syndrome LD2F.15 Orphanet 648 TPD-HHTCPU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HHTCPU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HHTCPU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HHTCPU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HHTCPU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HHTCPU Lynch syndrome 2B90.Y Orphanet 144 TPD-HHTCPU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HHTCPU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HHVF58 Noonan syndrome LD2F.15 Orphanet 648 TPD-HHVF58 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HHVF58 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HHVF58 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HHVF58 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HHVF58 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HHVF58 Lynch syndrome 2B90.Y Orphanet 144 TPD-HHVF58 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HHVF58 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HHX96Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HHX96Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HHX96Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HHZ1B2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HI0BMI Kennedy disease 8B61.4 Orphanet 481 TPD-HI0BMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HI0BMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HI0BMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HI562O Noonan syndrome LD2F.15 Orphanet 648 TPD-HI562O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HI562O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HI562O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HI562O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HI562O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HI562O Lynch syndrome 2B90.Y Orphanet 144 TPD-HI562O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HI562O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HIC2HH Noonan syndrome LD2F.15 Orphanet 648 TPD-HIC2HH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HIC2HH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HIC2HH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HIC2HH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HIC2HH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HIC2HH Lynch syndrome 2B90.Y Orphanet 144 TPD-HIC2HH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HIC2HH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HIDQ5M Familial melanoma QC61.Y Orphanet 618 TPD-HIDQ5M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HII7TL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HIK455 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HIK455 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HIKZV9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HIKZV9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HIKZV9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HIKZV9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HINCLB Familial melanoma QC61.Y Orphanet 618 TPD-HINCLB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HINEIB Kennedy disease 8B61.4 Orphanet 481 TPD-HINEIB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HINEIB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HINEIB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HINQJ0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HINQJ0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HIRX5Z Kennedy disease 8B61.4 Orphanet 481 TPD-HIRX5Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HIRX5Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HIRX5Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HITJ8S Kennedy disease 8B61.4 Orphanet 481 TPD-HITJ8S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HITJ8S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HITJ8S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HIXD6U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HIXD6U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HIXD6U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HIYCR5 Kennedy disease 8B61.4 Orphanet 481 TPD-HIYCR5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HIYCR5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HIYCR5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HIYMT5 Kennedy disease 8B61.4 Orphanet 481 TPD-HIYMT5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HIYMT5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HIYMT5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HIYY07 Kennedy disease 8B61.4 Orphanet 481 TPD-HIYY07 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HIYY07 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HIYY07 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJ3TBR Noonan syndrome LD2F.15 Orphanet 648 TPD-HJ3TBR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HJ3TBR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HJ3TBR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HJ3TBR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HJ3TBR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HJ3TBR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HJ3TBR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HJ3TBR Craniopharyngioma 2F9A Orphanet 54595 TPD-HJ3TBR Cushing disease 5A70.0 Orphanet 96253 TPD-HJ6WUX Noonan syndrome LD2F.15 Orphanet 648 TPD-HJ6WUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HJ6WUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HJ6WUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HJ6WUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HJ6WUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HJ6WUX Lynch syndrome 2B90.Y Orphanet 144 TPD-HJ6WUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HJ6WUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HJ7ADY Kennedy disease 8B61.4 Orphanet 481 TPD-HJ7ADY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJ7ADY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJ7ADY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJ84K6 Kennedy disease 8B61.4 Orphanet 481 TPD-HJ84K6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJ84K6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJ84K6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJ8EEV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HJ8EEV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HJ8MTN Kennedy disease 8B61.4 Orphanet 481 TPD-HJ8MTN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJ8MTN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJ8MTN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJ8OSW Familial melanoma QC61.Y Orphanet 618 TPD-HJ8OSW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HJ8UHF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HJ8UHF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HJ8UHF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HJBPQE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HJBPQE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HJBPQE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HJBPQE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HJBPQE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HJBPQE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HJBPQE Semantic dementia 6D83 Orphanet 100069 TPD-HJBPQE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HJCPQX Kennedy disease 8B61.4 Orphanet 481 TPD-HJCPQX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJCPQX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJCPQX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJEZIC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HJI0P4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HJI0P4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HJI0P4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HJI0P4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HJIX61 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HJJNJ0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HJJNJ0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HJP8OO Hirschsprung disease LB16.1 Orphanet 388 TPD-HJP8OO Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-HJP8OO Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-HJQ1FT Kennedy disease 8B61.4 Orphanet 481 TPD-HJQ1FT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJQ1FT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJQ1FT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJT0V1 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-HJT0V1 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-HJTPAT Kennedy disease 8B61.4 Orphanet 481 TPD-HJTPAT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJTPAT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJTPAT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJUALJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HJUALJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HJUALJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HJUALJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HJUALJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HJUALJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HJUALJ Lynch syndrome 2B90.Y Orphanet 144 TPD-HJUALJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HJUALJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HJYEHI Kennedy disease 8B61.4 Orphanet 481 TPD-HJYEHI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJYEHI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJYEHI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJYJZ6 Kennedy disease 8B61.4 Orphanet 481 TPD-HJYJZ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HJYJZ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HJYJZ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HJZ70G Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HK1OWP Noonan syndrome LD2F.15 Orphanet 648 TPD-HK1OWP Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-HK1YIS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HK1YIS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HK1YIS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HK1ZT0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HK2PFF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HK2PFF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HK2PFF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HKF22F Noonan syndrome LD2F.15 Orphanet 648 TPD-HKF22F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HKF22F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HKF22F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HKF22F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HKF22F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HKF22F Lynch syndrome 2B90.Y Orphanet 144 TPD-HKF22F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HKF22F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HKFOVO Noonan syndrome LD2F.15 Orphanet 648 TPD-HKFOVO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HKFOVO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HKFOVO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HKFOVO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HKFOVO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HKFOVO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HKFOVO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HKFOVO Craniopharyngioma 2F9A Orphanet 54595 TPD-HKFOVO Cushing disease 5A70.0 Orphanet 96253 TPD-HKIFF8 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-HKL55I Noonan syndrome LD2F.15 Orphanet 648 TPD-HKL55I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HKL55I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HKL55I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HKL55I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HKL55I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HKL55I Lynch syndrome 2B90.Y Orphanet 144 TPD-HKL55I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HKL55I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HKO21Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HKO21Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HKRG14 Kennedy disease 8B61.4 Orphanet 481 TPD-HKRG14 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HKRG14 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HKRG14 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HKS1EW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HKS1EW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HKS1EW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HKS1EW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HKXYAE Kennedy disease 8B61.4 Orphanet 481 TPD-HKXYAE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HKXYAE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HKXYAE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HKY2QP Noonan syndrome LD2F.15 Orphanet 648 TPD-HKY2QP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HKY2QP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HKY2QP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HKY2QP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HKY2QP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HKY2QP Lynch syndrome 2B90.Y Orphanet 144 TPD-HKY2QP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HKY2QP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HKYE57 Kennedy disease 8B61.4 Orphanet 481 TPD-HKYE57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HKYE57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HKYE57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HKZXBN Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-HL0E7N Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-HL1H74 Noonan syndrome LD2F.15 Orphanet 648 TPD-HL1H74 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HL1H74 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HL1H74 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HL1H74 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HL1H74 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HL1H74 Lynch syndrome 2B90.Y Orphanet 144 TPD-HL1H74 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HL1H74 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HL2APC Kennedy disease 8B61.4 Orphanet 481 TPD-HL2APC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HL2APC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HL2APC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HL335P Familial melanoma QC61.Y Orphanet 618 TPD-HL335P Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HL5CQ6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-HL5CQ6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-HLEJFR Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HLEJFR Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HLFQR3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-HLG5YE Kennedy disease 8B61.4 Orphanet 481 TPD-HLG5YE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HLG5YE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HLG5YE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HLG5YE Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-HLG5YE Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-HLG5YE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HLG5YE Distal myopathy, Welander type 8C75 Orphanet 603 TPD-HLM2EU Kennedy disease 8B61.4 Orphanet 481 TPD-HLM2EU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HLM2EU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HLM2EU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HLNBVW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HLSGM2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HLSGM2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HLSGM2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HLTD4E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HLTD4E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HLTD4E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HLTD4E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HLU46H Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HLU46H Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HLU46H Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HLVHEG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HLVHEG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HLVHEG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HLX1H6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HLX1H6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HLX1H6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HLX1H6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HLX1H6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HLX1H6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HLX1H6 Semantic dementia 6D83 Orphanet 100069 TPD-HLX1H6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HM492L Noonan syndrome LD2F.15 Orphanet 648 TPD-HM492L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HM492L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HM492L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HM492L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HM492L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HM492L Lynch syndrome 2B90.Y Orphanet 144 TPD-HM492L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HM492L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HM4NO8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HM539P Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-HM539P Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-HM6T0E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HM6T0E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HM6W6O Noonan syndrome LD2F.15 Orphanet 648 TPD-HM6W6O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HM6W6O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HM6W6O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HM6W6O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HM6W6O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HM6W6O Lynch syndrome 2B90.Y Orphanet 144 TPD-HM6W6O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HM6W6O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HM9G03 Kennedy disease 8B61.4 Orphanet 481 TPD-HM9G03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HM9G03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HM9G03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HME7XC Kennedy disease 8B61.4 Orphanet 481 TPD-HME7XC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HME7XC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HME7XC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HMFP4U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HMFP4U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HMFP4U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HMJ1Q6 Familial melanoma QC61.Y Orphanet 618 TPD-HMJ1Q6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HMJJG5 Kennedy disease 8B61.4 Orphanet 481 TPD-HMJJG5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HMJJG5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HMJJG5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HMKUKR Kennedy disease 8B61.4 Orphanet 481 TPD-HMKUKR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HMKUKR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HMKUKR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HML5ZM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HMNHXY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HMNHXY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HMNHXY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HMNL5D Familial melanoma QC61.Y Orphanet 618 TPD-HMNL5D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HMPW8P Noonan syndrome LD2F.15 Orphanet 648 TPD-HMPW8P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HMPW8P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HMPW8P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HMPW8P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HMPW8P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HMPW8P Lynch syndrome 2B90.Y Orphanet 144 TPD-HMPW8P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HMPW8P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HMSCZZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HMSCZZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HMSCZZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HMTQSL Noonan syndrome LD2F.15 Orphanet 648 TPD-HMTQSL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HMTQSL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HMTQSL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HMTQSL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HMTQSL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HMTQSL Lynch syndrome 2B90.Y Orphanet 144 TPD-HMTQSL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HMTQSL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HMV8D4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HMV8D4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HMV8D4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HMV8D4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HMW2BC Kennedy disease 8B61.4 Orphanet 481 TPD-HMW2BC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HMW2BC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HMW2BC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HMWALQ Familial melanoma QC61.Y Orphanet 618 TPD-HMWALQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HMXGNS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HMZ9PN Noonan syndrome LD2F.15 Orphanet 648 TPD-HMZ9PN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HMZ9PN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HMZ9PN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HMZ9PN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HMZ9PN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HMZ9PN Lynch syndrome 2B90.Y Orphanet 144 TPD-HMZ9PN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HMZ9PN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HN5CXD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HN5CXD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HN5CXD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HN5I4C Kennedy disease 8B61.4 Orphanet 481 TPD-HN5I4C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HN5I4C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HN5I4C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HN7V2X Kennedy disease 8B61.4 Orphanet 481 TPD-HN7V2X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HN7V2X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HN7V2X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HNNRVB Kennedy disease 8B61.4 Orphanet 481 TPD-HNNRVB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HNNRVB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HNNRVB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HNPHUI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HNPHUI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HNPHUI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HNRM18 Noonan syndrome LD2F.15 Orphanet 648 TPD-HNRM18 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HNRM18 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HNRM18 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HNRM18 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HNRM18 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HNRM18 Lynch syndrome 2B90.Y Orphanet 144 TPD-HNRM18 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HNRM18 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HNW2WL Kennedy disease 8B61.4 Orphanet 481 TPD-HNW2WL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HNW2WL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HNW2WL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HNYB0D Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-HO7KL4 Noonan syndrome LD2F.15 Orphanet 648 TPD-HO7KL4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HO7KL4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HO7KL4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HO7KL4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HO7KL4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HO7KL4 Lynch syndrome 2B90.Y Orphanet 144 TPD-HO7KL4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HO7KL4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HO8FPL Noonan syndrome LD2F.15 Orphanet 648 TPD-HO8FPL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HO8FPL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HO8FPL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HO8FPL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HO8FPL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HO8FPL Lynch syndrome 2B90.Y Orphanet 144 TPD-HO8FPL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HO8FPL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HO8YMZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HO8YMZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HO96PB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HOC43X Kennedy disease 8B61.4 Orphanet 481 TPD-HOC43X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HOC43X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HOC43X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HOG5AT Burkitt lymphoma XH4KA9 Orphanet 543 TPD-HOG5AT Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HOH42F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HOK84A Noonan syndrome LD2F.15 Orphanet 648 TPD-HOK84A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HOK84A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HOK84A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HOK84A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HOK84A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HOK84A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HOK84A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HOK84A Craniopharyngioma 2F9A Orphanet 54595 TPD-HOK84A Cushing disease 5A70.0 Orphanet 96253 TPD-HOM7KE Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-HOM9OU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HOM9OU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HOOSCB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HOOSCB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HOOSCB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HOOSCB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HORUQ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HOUJS5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HOUJS5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HOUJS5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HOUUTK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HOUUTK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HOUUTK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HOW4KY Kennedy disease 8B61.4 Orphanet 481 TPD-HOW4KY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HOW4KY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HOW4KY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HOWZ9N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HOWZ9N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HOXLFN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HOXLFN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HOXLFN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HOXLFN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HOY4GX Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-HOY4GX Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-HOY4GX Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-HOY4GX Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-HOY4GX Primary myelofibrosis 2A20.2 Orphanet 824 TPD-HOY4GX Polycythemia vera 2A20.4 Orphanet 729 TPD-HOY4GX Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-HP0UPO Familial melanoma QC61.Y Orphanet 618 TPD-HP0UPO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HP2DZP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HP3UHS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HP3UHS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HP3UHS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HP3UHS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HP57IS Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-HPAVZI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HPAVZI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HPAVZI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HPAVZI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HPBCT6 Kennedy disease 8B61.4 Orphanet 481 TPD-HPBCT6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HPBCT6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HPBCT6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HPBSG8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HPBZY0 Familial melanoma QC61.Y Orphanet 618 TPD-HPBZY0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HPEN03 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HPEN03 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HPEN03 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HPO6US Kennedy disease 8B61.4 Orphanet 481 TPD-HPO6US Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HPO6US Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HPO6US Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HPRW6E Kennedy disease 8B61.4 Orphanet 481 TPD-HPRW6E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HPRW6E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HPRW6E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HPS0B9 Noonan syndrome LD2F.15 Orphanet 648 TPD-HPS0B9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HPS0B9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HPS0B9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HPS0B9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HPS0B9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HPS0B9 Lynch syndrome 2B90.Y Orphanet 144 TPD-HPS0B9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HPS0B9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HPV8AU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HPV8AU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HPVBHG Kennedy disease 8B61.4 Orphanet 481 TPD-HPVBHG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HPVBHG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HPVBHG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HPVDWL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HQ09GO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HQ09GO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HQ0ZX5 Noonan syndrome LD2F.15 Orphanet 648 TPD-HQ0ZX5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HQ0ZX5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HQ0ZX5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HQ0ZX5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HQ0ZX5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HQ0ZX5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HQ0ZX5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HQ0ZX5 Craniopharyngioma 2F9A Orphanet 54595 TPD-HQ0ZX5 Cushing disease 5A70.0 Orphanet 96253 TPD-HQ1BPN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HQ3BJ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-HQ3BJ0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HQ3BJ0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HQ3BJ0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HQ3BJ0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HQ3BJ0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HQ3BJ0 Lynch syndrome 2B90.Y Orphanet 144 TPD-HQ3BJ0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HQ3BJ0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HQ5Q3A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HQ6277 Noonan syndrome LD2F.15 Orphanet 648 TPD-HQ6277 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-HQDK1D Kennedy disease 8B61.4 Orphanet 481 TPD-HQDK1D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HQDK1D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HQDK1D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HQKKW7 Kennedy disease 8B61.4 Orphanet 481 TPD-HQKKW7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HQKKW7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HQKKW7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HQOU16 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HQPUMB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HQSPZL Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-HQSPZL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HQSPZL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HQSPZL Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-HQSPZL Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-HQSPZL Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-HQSPZL Osteosarcoma 2B51 Orphanet 668 TPD-HQSPZL Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-HQSPZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HQSPZL Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-HQSPZL Small cell lung cancer 2C25.1 Orphanet 70573 TPD-HQSPZL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HQSPZL Cushing disease 5A70.0 Orphanet 96253 TPD-HQSPZL Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-HQSPZL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HQTFT4 Achondroplasia LD24.00 Orphanet 15 TPD-HQTFT4 Hypochondroplasia LD24.01 Orphanet 429 TPD-HQTFT4 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-HQTFT4 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-HQTFT4 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-HQTFT4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HQTFT4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HQTFT4 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-HQTFT4 Muenke syndrome LD24.GY Orphanet 53271 TPD-HQTFT4 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-HQTFT4 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-HQTFT4 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-HQUHA7 Noonan syndrome LD2F.15 Orphanet 648 TPD-HQUHA7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HQUHA7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HQUHA7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HQUHA7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HQUHA7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HQUHA7 Lynch syndrome 2B90.Y Orphanet 144 TPD-HQUHA7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HQUHA7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HQVILG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-HQWP9F Familial melanoma QC61.Y Orphanet 618 TPD-HQWP9F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HQXDVW Kennedy disease 8B61.4 Orphanet 481 TPD-HQXDVW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HQXDVW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HQXDVW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HQYBE5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HR0VK8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HR0VK8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HR0VK8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HR1FSL Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-HR3U8W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HR6M5N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HR6SQX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HR6SQX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HR6WQ1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HR6WQ1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HRALOM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HRDN1W Noonan syndrome LD2F.15 Orphanet 648 TPD-HRDN1W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HRDN1W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HRDN1W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HRDN1W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HRDN1W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HRDN1W Lynch syndrome 2B90.Y Orphanet 144 TPD-HRDN1W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HRDN1W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HRKMQC Familial prostate cancer 2C82.Y Orphanet 1331 TPD-HRRPUN Noonan syndrome LD2F.15 Orphanet 648 TPD-HRRPUN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HRRPUN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HRRPUN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HRRPUN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HRRPUN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HRRPUN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HRRPUN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HRRPUN Craniopharyngioma 2F9A Orphanet 54595 TPD-HRRPUN Cushing disease 5A70.0 Orphanet 96253 TPD-HRT0EI Noonan syndrome LD2F.15 Orphanet 648 TPD-HRT0EI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HRT0EI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HRT0EI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HRT0EI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HRT0EI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HRT0EI Lynch syndrome 2B90.Y Orphanet 144 TPD-HRT0EI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HRT0EI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HRVH0Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HRVH0Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HRVH0Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HRWT65 Familial melanoma QC61.Y Orphanet 618 TPD-HRWT65 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HRYK0E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HRYK0E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HS38LP Noonan syndrome LD2F.15 Orphanet 648 TPD-HS38LP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HS38LP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HS38LP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HS38LP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HS38LP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HS38LP Lynch syndrome 2B90.Y Orphanet 144 TPD-HS38LP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HS38LP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HS704K CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HS7H32 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HS7H32 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HS7H32 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HS7THX Kennedy disease 8B61.4 Orphanet 481 TPD-HS7THX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HS7THX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HS7THX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HS9I20 Kennedy disease 8B61.4 Orphanet 481 TPD-HS9I20 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HS9I20 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HS9I20 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HS9SSZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HSD4RG Noonan syndrome LD2F.15 Orphanet 648 TPD-HSD4RG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HSD4RG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HSD4RG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HSD4RG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HSD4RG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HSD4RG Lynch syndrome 2B90.Y Orphanet 144 TPD-HSD4RG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HSD4RG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HSEK6K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HSEK6K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HSEK6K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HSFAIA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HSFAIA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HSFAIA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HSL8NI Noonan syndrome LD2F.15 Orphanet 648 TPD-HSL8NI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HSL8NI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HSL8NI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HSL8NI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HSL8NI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HSL8NI Lynch syndrome 2B90.Y Orphanet 144 TPD-HSL8NI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HSL8NI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HSOOTC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HSOZCQ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-HSQBTQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HSVLOC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HSVLOC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HSVLOC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HSWGWI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HSWGWI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HSWGWI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HT1DSM Familial melanoma QC61.Y Orphanet 618 TPD-HT1DSM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HT2TGC Noonan syndrome LD2F.15 Orphanet 648 TPD-HT2TGC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HT2TGC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HT2TGC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HT2TGC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HT2TGC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HT2TGC Lynch syndrome 2B90.Y Orphanet 144 TPD-HT2TGC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HT2TGC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HT2W6R Familial melanoma QC61.Y Orphanet 618 TPD-HT2W6R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HT4HJJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HT4HJJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HT4HJJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HT4HJJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HT4HJJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HT4HJJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HT4HJJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HT4HJJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HT4HJJ Craniopharyngioma 2F9A Orphanet 54595 TPD-HT4HJJ Cushing disease 5A70.0 Orphanet 96253 TPD-HT6BAY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HT6HZQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HT6HZQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HT6HZQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HT6HZQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HT726B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HT726B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HT726B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HT89V9 Kennedy disease 8B61.4 Orphanet 481 TPD-HT89V9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HT89V9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HT89V9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HTA1QG Noonan syndrome LD2F.15 Orphanet 648 TPD-HTA1QG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HTA1QG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HTA1QG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HTA1QG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HTA1QG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HTA1QG Lynch syndrome 2B90.Y Orphanet 144 TPD-HTA1QG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HTA1QG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HTANL0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HTANL0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HTANL0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HTANL0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HTBAN0 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-HTC439 Kennedy disease 8B61.4 Orphanet 481 TPD-HTC439 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HTC439 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HTC439 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HTCTRG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HTGDS0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HTGDS0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HTGDS0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HTHQM5 Familial melanoma QC61.Y Orphanet 618 TPD-HTHQM5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HTIR4V Kennedy disease 8B61.4 Orphanet 481 TPD-HTIR4V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HTIR4V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HTIR4V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HTK65R Kennedy disease 8B61.4 Orphanet 481 TPD-HTK65R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HTK65R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HTK65R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HTM5QJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HTM5QJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HTM5QJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HTM5QJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HTM5QJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HTM5QJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HTM5QJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HTM5QJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HTM5QJ Craniopharyngioma 2F9A Orphanet 54595 TPD-HTM5QJ Cushing disease 5A70.0 Orphanet 96253 TPD-HTMI30 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HTMI30 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HTN6SI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HTN6SI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HTN6SI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HTOA42 Noonan syndrome LD2F.15 Orphanet 648 TPD-HTOA42 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HTOA42 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HTOA42 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HTOA42 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HTOA42 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HTOA42 Lynch syndrome 2B90.Y Orphanet 144 TPD-HTOA42 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HTOA42 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HTOE4A Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HTOE4A Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HTOE4A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HTS1UD Noonan syndrome LD2F.15 Orphanet 648 TPD-HTS1UD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HTS1UD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HTS1UD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HTS1UD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HTS1UD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HTS1UD Lynch syndrome 2B90.Y Orphanet 144 TPD-HTS1UD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HTS1UD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HTUHQU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HTUHQU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HTVBZG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HU1FTO Kennedy disease 8B61.4 Orphanet 481 TPD-HU1FTO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HU1FTO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HU1FTO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HU6XO5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HU8H03 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HU8H03 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HUF9L7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUF9L7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUF9L7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUFL7N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUFL7N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUFL7N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUGDNU Familial melanoma QC61.Y Orphanet 618 TPD-HUGDNU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HUGJ5P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUGJ5P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUGJ5P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUI2A3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HUI2A3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HUI2A3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HUI2A3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HUINB2 Kennedy disease 8B61.4 Orphanet 481 TPD-HUINB2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HUINB2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HUINB2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HUJROW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUJROW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUJROW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUKE2O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUKE2O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUKE2O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUOF1R Kennedy disease 8B61.4 Orphanet 481 TPD-HUOF1R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HUOF1R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HUOF1R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HUP5X7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HUP5X7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HUP5X7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HUST0F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HUST0F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HUST0F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HUST0F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HUUTSU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HUUTSU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HUUTSU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HUVVNA Kennedy disease 8B61.4 Orphanet 481 TPD-HUVVNA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HUVVNA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HUVVNA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HUZUII X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HUZUII Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HV0CJM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-HV0M8P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HV1JYP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HV202J Kennedy disease 8B61.4 Orphanet 481 TPD-HV202J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HV202J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HV202J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HV4BFM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HVAL7S Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-HVCA33 Kennedy disease 8B61.4 Orphanet 481 TPD-HVCA33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HVCA33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HVCA33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HVD0KX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HVD0KX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HVD0KX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HVD13O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HVD13O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HVG1X3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HVG1X3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HVG1X3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HVG1X3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HVG1X3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HVG1X3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HVG1X3 Semantic dementia 6D83 Orphanet 100069 TPD-HVG1X3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HVKURT Familial melanoma QC61.Y Orphanet 618 TPD-HVKURT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HVMU8E Noonan syndrome LD2F.15 Orphanet 648 TPD-HVMU8E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HVMU8E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HVMU8E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HVMU8E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HVMU8E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HVMU8E Lynch syndrome 2B90.Y Orphanet 144 TPD-HVMU8E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HVMU8E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HVNJQJ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-HVO7WH Kennedy disease 8B61.4 Orphanet 481 TPD-HVO7WH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HVO7WH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HVO7WH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HVW6DC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HVW6DC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HVX2CH Noonan syndrome LD2F.15 Orphanet 648 TPD-HVX2CH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HVX2CH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HVX2CH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HVX2CH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HVX2CH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HVX2CH Lynch syndrome 2B90.Y Orphanet 144 TPD-HVX2CH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HVX2CH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HVZ27F Noonan syndrome LD2F.15 Orphanet 648 TPD-HVZ27F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HVZ27F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HVZ27F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HVZ27F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HVZ27F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HVZ27F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HVZ27F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HVZ27F Craniopharyngioma 2F9A Orphanet 54595 TPD-HVZ27F Cushing disease 5A70.0 Orphanet 96253 TPD-HW0WI7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HW3HP4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HW3HP4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HW3HP4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HW45LS Noonan syndrome LD2F.15 Orphanet 648 TPD-HW45LS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HW45LS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HW45LS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HW45LS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HW45LS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HW45LS Lynch syndrome 2B90.Y Orphanet 144 TPD-HW45LS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HW45LS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HW75UE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HW75UE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HWDJQ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-HWDJQ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HWDJQ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HWDJQ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HWDJQ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HWDJQ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HWDJQ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-HWDJQ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HWDJQ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HWFYRL Noonan syndrome LD2F.15 Orphanet 648 TPD-HWFYRL Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-HWH0WU Kennedy disease 8B61.4 Orphanet 481 TPD-HWH0WU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HWH0WU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HWH0WU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HWHFDH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HWN2RM Noonan syndrome LD2F.15 Orphanet 648 TPD-HWN2RM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HWN2RM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HWN2RM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HWN2RM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HWN2RM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HWN2RM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HWN2RM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HWN2RM Craniopharyngioma 2F9A Orphanet 54595 TPD-HWN2RM Cushing disease 5A70.0 Orphanet 96253 TPD-HWOIQ9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HWOIQ9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HWR1BT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HWR1BT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-HWR1BT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HWXUVB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HX2G28 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HX2G28 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HX31CB Kennedy disease 8B61.4 Orphanet 481 TPD-HX31CB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HX31CB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HX31CB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HX5SYW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HX5SYW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HX6KYX Noonan syndrome LD2F.15 Orphanet 648 TPD-HX6KYX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HX6KYX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HX6KYX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HX6KYX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HX6KYX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HX6KYX Lynch syndrome 2B90.Y Orphanet 144 TPD-HX6KYX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HX6KYX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HX9IJD Kennedy disease 8B61.4 Orphanet 481 TPD-HX9IJD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HX9IJD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HX9IJD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HX9W9N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HX9W9N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HX9W9N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HXBP2L Noonan syndrome LD2F.15 Orphanet 648 TPD-HXBP2L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HXBP2L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HXBP2L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HXBP2L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HXBP2L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HXBP2L Lynch syndrome 2B90.Y Orphanet 144 TPD-HXBP2L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HXBP2L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HXBXE0 Noonan syndrome LD2F.15 Orphanet 648 TPD-HXBXE0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HXBXE0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HXBXE0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HXBXE0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HXBXE0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HXBXE0 Lynch syndrome 2B90.Y Orphanet 144 TPD-HXBXE0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HXBXE0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HXCD5E Kennedy disease 8B61.4 Orphanet 481 TPD-HXCD5E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HXCD5E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HXCD5E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HXDGGS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HXDGGS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HXK3RG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HXKLU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-HXKLU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HXKLU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HXKLU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HXKLU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HXKLU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HXKLU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-HXKLU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HXKLU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HXNQ69 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HXRZWL Familial melanoma QC61.Y Orphanet 618 TPD-HXRZWL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HXSC2V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HXUYXG Noonan syndrome LD2F.15 Orphanet 648 TPD-HXUYXG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HXUYXG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HXUYXG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HXUYXG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HXUYXG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HXUYXG Lynch syndrome 2B90.Y Orphanet 144 TPD-HXUYXG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HXUYXG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HXZ0L5 Weaver syndrome LD2C Orphanet 3447 TPD-HY0QVW Familial melanoma QC61.Y Orphanet 618 TPD-HY0QVW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HY197E Kennedy disease 8B61.4 Orphanet 481 TPD-HY197E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HY197E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HY197E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HY1CA2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HY1CA2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HY1CA2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HY1CA2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HY1ZXF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HY4WMH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HY4WMH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HY4WMH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HY4WMH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HY4WMH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HY4WMH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HY4WMH Semantic dementia 6D83 Orphanet 100069 TPD-HY4WMH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HY5TE1 Kennedy disease 8B61.4 Orphanet 481 TPD-HY5TE1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HY5TE1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HY5TE1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HYAV5V Familial melanoma QC61.Y Orphanet 618 TPD-HYBUY3 Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-HYBUY3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HYBUY3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-HYBYKG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HYBYKG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HYBYKG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HYBYKG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HYF0AU CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-HYHFAY Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-HYHFAY Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-HYHFAY Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-HYHFAY Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-HYHFAY Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-HYHFAY Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-HYHFAY Semantic dementia 6D83 Orphanet 100069 TPD-HYHFAY Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-HYIS1Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HYIS1Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HYIS1Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HYL0FT Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-HYL0FT AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-HYL0FT Hemimegalencephaly LA05.1 Orphanet 99802 TPD-HYL4OU Kennedy disease 8B61.4 Orphanet 481 TPD-HYL4OU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HYL4OU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HYL4OU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HYLBKL Familial melanoma QC61.Y Orphanet 618 TPD-HYLBKL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HYLS35 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-HYLS35 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-HYLSVQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HYLSVQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HYLSVQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HYM7CJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HYM7CJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HYM7CJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HYM7CJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HYM7CJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HYM7CJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HYM7CJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HYM7CJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HYM7CJ Craniopharyngioma 2F9A Orphanet 54595 TPD-HYM7CJ Cushing disease 5A70.0 Orphanet 96253 TPD-HYV64R Kennedy disease 8B61.4 Orphanet 481 TPD-HYV64R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HYV64R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HYV64R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HYYL69 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HYYL69 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HYYL69 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-HYZ1J4 Familial melanoma QC61.Y Orphanet 618 TPD-HYZ1J4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HZ50E1 Familial melanoma QC61.Y Orphanet 618 TPD-HZ50E1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-HZ5MA1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-HZ5SD6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-HZ5SD6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-HZ7OAI Noonan syndrome LD2F.15 Orphanet 648 TPD-HZ7OAI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HZ7OAI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HZ7OAI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HZ7OAI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HZ7OAI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HZ7OAI Lynch syndrome 2B90.Y Orphanet 144 TPD-HZ7OAI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HZ7OAI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HZ8BH7 Kennedy disease 8B61.4 Orphanet 481 TPD-HZ8BH7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HZ8BH7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HZ8BH7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HZBEEB Kennedy disease 8B61.4 Orphanet 481 TPD-HZBEEB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HZBEEB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HZBEEB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HZDZ2J Kennedy disease 8B61.4 Orphanet 481 TPD-HZDZ2J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HZDZ2J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HZDZ2J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HZGGRJ Noonan syndrome LD2F.15 Orphanet 648 TPD-HZGGRJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-HZGGRJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HZGGRJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-HZGGRJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HZGGRJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-HZGGRJ Lynch syndrome 2B90.Y Orphanet 144 TPD-HZGGRJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-HZGGRJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-HZI0RC Achondroplasia LD24.00 Orphanet 15 TPD-HZI0RC Hypochondroplasia LD24.01 Orphanet 429 TPD-HZI0RC Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-HZI0RC Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-HZI0RC Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-HZI0RC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HZI0RC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HZI0RC Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-HZI0RC Muenke syndrome LD24.GY Orphanet 53271 TPD-HZI0RC Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-HZI0RC Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-HZI0RC Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-HZLIW6 Noonan syndrome LD2F.15 Orphanet 648 TPD-HZLIW6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HZLIW6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HZLIW6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HZLIW6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HZLIW6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HZLIW6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HZLIW6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HZLIW6 Craniopharyngioma 2F9A Orphanet 54595 TPD-HZLIW6 Cushing disease 5A70.0 Orphanet 96253 TPD-HZLUXG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HZLUXG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-HZNP5F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-HZNP5F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-HZNP5F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-HZNP5F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-HZO79I Kennedy disease 8B61.4 Orphanet 481 TPD-HZO79I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-HZO79I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-HZO79I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-HZRJO6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-HZS998 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-HZVFHL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-HZVFHL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-HZVFHL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I02TX6 Familial melanoma QC61.Y Orphanet 618 TPD-I02TX6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I03Y0Q Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-I03Y0Q Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-I04YY1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-I04YY1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-I04YY1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-I04YY1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-I04YY1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-I04YY1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-I04YY1 Semantic dementia 6D83 Orphanet 100069 TPD-I04YY1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-I05AFK Noonan syndrome LD2F.15 Orphanet 648 TPD-I05AFK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I05AFK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I05AFK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I05AFK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I05AFK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I05AFK Lynch syndrome 2B90.Y Orphanet 144 TPD-I05AFK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I05AFK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I09DZM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I09DZM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I09DZM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I09P7K Kennedy disease 8B61.4 Orphanet 481 TPD-I09P7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I09P7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I09P7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I0AI7D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I0CREN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I0D1O7 Noonan syndrome LD2F.15 Orphanet 648 TPD-I0D1O7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I0D1O7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I0D1O7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I0D1O7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I0D1O7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I0D1O7 Lynch syndrome 2B90.Y Orphanet 144 TPD-I0D1O7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I0D1O7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I0DV4O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I0DV4O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I0DV4O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I0DV4O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I0G5V6 Kennedy disease 8B61.4 Orphanet 481 TPD-I0G5V6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I0G5V6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I0G5V6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I0IH9I Kennedy disease 8B61.4 Orphanet 481 TPD-I0IH9I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I0IH9I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I0IH9I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I0L02Y Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-I0L02Y Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-I0L02Y Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-I0L02Y Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-I0ON3B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I0ON3B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I0ON3B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I0ON3B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I0P6HX Familial melanoma QC61.Y Orphanet 618 TPD-I0P6HX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I0PQ3G Kennedy disease 8B61.4 Orphanet 481 TPD-I0PQ3G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I0PQ3G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I0PQ3G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I0RMNV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I0RMNV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I0ROHC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I0T8WG Familial melanoma QC61.Y Orphanet 618 TPD-I0T8WG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I0W2HW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I0W2HW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I0W2HW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I0W2HW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I0WJ5M Kennedy disease 8B61.4 Orphanet 481 TPD-I0WJ5M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I0WJ5M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I0WJ5M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I0YABU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-I0YABU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-I1917C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I19EB7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I1CLO5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I1CLO5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I1CLO5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I1E9NZ Kennedy disease 8B61.4 Orphanet 481 TPD-I1E9NZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I1E9NZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I1E9NZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I1EZKY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I1EZKY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I1EZKY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I1EZKY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I1JWKX Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-I1JWKX 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-I1JWKX 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-I1L0P3 Noonan syndrome LD2F.15 Orphanet 648 TPD-I1L0P3 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-I1LOAT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I1N4W8 Kennedy disease 8B61.4 Orphanet 481 TPD-I1N4W8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I1N4W8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I1N4W8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I1NUKQ Kennedy disease 8B61.4 Orphanet 481 TPD-I1NUKQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I1NUKQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I1NUKQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I1OLD5 Noonan syndrome LD2F.15 Orphanet 648 TPD-I1OLD5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I1OLD5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I1OLD5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I1OLD5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I1OLD5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I1OLD5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I1OLD5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I1OLD5 Craniopharyngioma 2F9A Orphanet 54595 TPD-I1OLD5 Cushing disease 5A70.0 Orphanet 96253 TPD-I1QE0G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I1QE0G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I1QEJQ Familial melanoma QC61.Y Orphanet 618 TPD-I1QEJQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I1SRO7 Kennedy disease 8B61.4 Orphanet 481 TPD-I1SRO7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I1SRO7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I1SRO7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I1V9QZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I1V9QZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-I1V9QZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I1VZ4K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I1YL0P Noonan syndrome LD2F.15 Orphanet 648 TPD-I1YL0P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I1YL0P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I1YL0P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I1YL0P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I1YL0P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I1YL0P Lynch syndrome 2B90.Y Orphanet 144 TPD-I1YL0P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I1YL0P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I1YTTU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I1YTTU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I1YTTU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I1Z9DW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I1Z9DW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I20PL8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I20PL8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I20PL8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I20PL8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I226WX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-I23FFL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I24OJU Familial melanoma QC61.Y Orphanet 618 TPD-I24OJU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I2731S Noonan syndrome LD2F.15 Orphanet 648 TPD-I2731S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I2731S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I2731S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I2731S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I2731S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I2731S Lynch syndrome 2B90.Y Orphanet 144 TPD-I2731S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I2731S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I2DXXV Noonan syndrome LD2F.15 Orphanet 648 TPD-I2DXXV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I2DXXV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I2DXXV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I2DXXV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I2DXXV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I2DXXV Lynch syndrome 2B90.Y Orphanet 144 TPD-I2DXXV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I2DXXV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I2FWLI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I2FWLI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I2FWLI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I2FWLI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I2KTW5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I2KTW5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I2KTW5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I2MO8H Kennedy disease 8B61.4 Orphanet 481 TPD-I2MO8H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I2MO8H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I2MO8H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I2NT9K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I2NT9K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I2NT9K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I2YEOY Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-I32MTO Kennedy disease 8B61.4 Orphanet 481 TPD-I32MTO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I32MTO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I32MTO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I34YJC Kennedy disease 8B61.4 Orphanet 481 TPD-I34YJC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I34YJC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I34YJC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I38YON Noonan syndrome LD2F.15 Orphanet 648 TPD-I38YON Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I38YON Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I38YON Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I38YON Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I38YON Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I38YON Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I38YON Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I38YON Craniopharyngioma 2F9A Orphanet 54595 TPD-I38YON Cushing disease 5A70.0 Orphanet 96253 TPD-I39NFU Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-I3J2AE Noonan syndrome LD2F.15 Orphanet 648 TPD-I3J2AE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I3J2AE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I3J2AE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I3J2AE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I3J2AE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I3J2AE Lynch syndrome 2B90.Y Orphanet 144 TPD-I3J2AE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I3J2AE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I3LJZU Noonan syndrome LD2F.15 Orphanet 648 TPD-I3LJZU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I3LJZU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I3LJZU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I3LJZU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I3LJZU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I3LJZU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I3LJZU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I3LJZU Craniopharyngioma 2F9A Orphanet 54595 TPD-I3LJZU Cushing disease 5A70.0 Orphanet 96253 TPD-I3N42E Noonan syndrome LD2F.15 Orphanet 648 TPD-I3N42E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I3N42E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I3N42E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I3N42E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I3N42E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I3N42E Lynch syndrome 2B90.Y Orphanet 144 TPD-I3N42E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I3N42E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I3NEHJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I3NEHJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I3NRQ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-I3NRQ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I3NRQ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I3NRQ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I3NRQ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I3NRQ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I3NRQ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-I3NRQ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I3NRQ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I3P1DZ Noonan syndrome LD2F.15 Orphanet 648 TPD-I3P1DZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I3P1DZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I3P1DZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I3P1DZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I3P1DZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I3P1DZ Lynch syndrome 2B90.Y Orphanet 144 TPD-I3P1DZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I3P1DZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I3UH4M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I3UH4M Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I3WQJA Kennedy disease 8B61.4 Orphanet 481 TPD-I3WQJA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I3WQJA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I3WQJA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I3WVEH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I3WVEH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I40R0X CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-I46JYR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I49673 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I49673 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I49673 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I49WG1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I49WG1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I49WG1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I4AX28 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I4AX28 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I4BCEN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I4J6I5 Kennedy disease 8B61.4 Orphanet 481 TPD-I4J6I5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I4J6I5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I4J6I5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I4JGJ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I4JGJ9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-I4JGJ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I4K1HI Familial melanoma QC61.Y Orphanet 618 TPD-I4K1HI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I4L9NA Noonan syndrome LD2F.15 Orphanet 648 TPD-I4L9NA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I4L9NA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I4L9NA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I4L9NA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I4L9NA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I4L9NA Lynch syndrome 2B90.Y Orphanet 144 TPD-I4L9NA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I4L9NA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I4NOH2 Kennedy disease 8B61.4 Orphanet 481 TPD-I4NOH2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I4NOH2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I4NOH2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I4RZ05 Noonan syndrome LD2F.15 Orphanet 648 TPD-I4RZ05 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I4RZ05 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I4RZ05 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I4RZ05 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I4RZ05 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I4RZ05 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I4RZ05 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I4RZ05 Craniopharyngioma 2F9A Orphanet 54595 TPD-I4RZ05 Cushing disease 5A70.0 Orphanet 96253 TPD-I4SVJZ Noonan syndrome LD2F.15 Orphanet 648 TPD-I4SVJZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I4SVJZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I4SVJZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I4SVJZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I4SVJZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I4SVJZ Lynch syndrome 2B90.Y Orphanet 144 TPD-I4SVJZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I4SVJZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I501VU Kennedy disease 8B61.4 Orphanet 481 TPD-I501VU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I501VU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I501VU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I50ELY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I50ELY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I51I3H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I51I3H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I51I3H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I51I3H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I53Z9O Noonan syndrome LD2F.15 Orphanet 648 TPD-I53Z9O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I53Z9O Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I53Z9O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I53Z9O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I53Z9O Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I53Z9O Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I53Z9O Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I53Z9O Craniopharyngioma 2F9A Orphanet 54595 TPD-I53Z9O Cushing disease 5A70.0 Orphanet 96253 TPD-I55PYG Noonan syndrome LD2F.15 Orphanet 648 TPD-I55PYG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I55PYG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I55PYG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I55PYG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I55PYG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I55PYG Lynch syndrome 2B90.Y Orphanet 144 TPD-I55PYG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I55PYG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I55RNW Noonan syndrome LD2F.15 Orphanet 648 TPD-I55RNW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I55RNW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I55RNW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I55RNW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I55RNW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I55RNW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I55RNW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I55RNW Craniopharyngioma 2F9A Orphanet 54595 TPD-I55RNW Cushing disease 5A70.0 Orphanet 96253 TPD-I57MK1 Kennedy disease 8B61.4 Orphanet 481 TPD-I57MK1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I57MK1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I57MK1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I593TF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-I5A0MH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I5A0MH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I5ERQP Noonan syndrome LD2F.15 Orphanet 648 TPD-I5ERQP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I5ERQP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I5ERQP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I5ERQP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I5ERQP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I5ERQP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I5ERQP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I5ERQP Craniopharyngioma 2F9A Orphanet 54595 TPD-I5ERQP Cushing disease 5A70.0 Orphanet 96253 TPD-I5GSU4 Familial melanoma QC61.Y Orphanet 618 TPD-I5GSU4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I5IVLV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I5IVLV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I5IVLV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I5MBYW Noonan syndrome LD2F.15 Orphanet 648 TPD-I5MBYW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I5MBYW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I5MBYW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I5MBYW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I5MBYW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I5MBYW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I5MBYW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I5MBYW Craniopharyngioma 2F9A Orphanet 54595 TPD-I5MBYW Cushing disease 5A70.0 Orphanet 96253 TPD-I5Q350 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I5Q350 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I5Q350 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I5Q350 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I5QSOX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-I5RVS4 Kennedy disease 8B61.4 Orphanet 481 TPD-I5RVS4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I5RVS4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I5RVS4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I5RWGF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I5RWGF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I5RWGF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I5WCG7 Familial melanoma QC61.Y Orphanet 618 TPD-I5WCG7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I5XVGH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I5XVGH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I5YGP3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I5YWEX Familial melanoma QC61.Y Orphanet 618 TPD-I5YWEX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I62A6K Noonan syndrome LD2F.15 Orphanet 648 TPD-I62A6K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I62A6K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I62A6K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I62A6K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I62A6K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I62A6K Lynch syndrome 2B90.Y Orphanet 144 TPD-I62A6K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I62A6K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I6C8H9 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-I6CH1L Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-I6D648 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-I6D648 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-I6D648 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-I6D648 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-I6D648 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-I6D648 Polycythemia vera 2A20.4 Orphanet 729 TPD-I6D648 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-I6INRI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I6INRI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-I6INRI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I6ISCH Noonan syndrome LD2F.15 Orphanet 648 TPD-I6ISCH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I6ISCH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I6ISCH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I6ISCH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I6ISCH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I6ISCH Lynch syndrome 2B90.Y Orphanet 144 TPD-I6ISCH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I6ISCH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I6LKO0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I6LKO0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-I6LKO0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I6LXEJ Kennedy disease 8B61.4 Orphanet 481 TPD-I6LXEJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I6LXEJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I6LXEJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I6OD38 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I6OD38 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I6OD38 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I6OD38 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I6OOKW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I6OOKW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-I6OOKW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I6P5UF Kennedy disease 8B61.4 Orphanet 481 TPD-I6P5UF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I6P5UF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I6P5UF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I6TBY3 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-I6V9KT Familial melanoma QC61.Y Orphanet 618 TPD-I6V9KT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I6VTPA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-I6VTPA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-I6VTPA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-I6VTPA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-I6VTPA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-I6VTPA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-I6VTPA Semantic dementia 6D83 Orphanet 100069 TPD-I6VTPA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-I74NY7 Noonan syndrome LD2F.15 Orphanet 648 TPD-I74NY7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I74NY7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I74NY7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I74NY7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I74NY7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I74NY7 Lynch syndrome 2B90.Y Orphanet 144 TPD-I74NY7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I74NY7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I75OF3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I75OF3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I75OF3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I75OF3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I772S8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I7A8MD Noonan syndrome LD2F.15 Orphanet 648 TPD-I7A8MD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I7A8MD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I7A8MD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I7A8MD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I7A8MD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I7A8MD Lynch syndrome 2B90.Y Orphanet 144 TPD-I7A8MD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I7A8MD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I7G8UJ Kennedy disease 8B61.4 Orphanet 481 TPD-I7G8UJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I7G8UJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I7G8UJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I7MUGN Noonan syndrome LD2F.15 Orphanet 648 TPD-I7MUGN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-I7OD6N Kennedy disease 8B61.4 Orphanet 481 TPD-I7OD6N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I7OD6N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I7OD6N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I7Q6T4 Noonan syndrome LD2F.15 Orphanet 648 TPD-I7Q6T4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I7Q6T4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I7Q6T4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I7Q6T4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I7Q6T4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I7Q6T4 Lynch syndrome 2B90.Y Orphanet 144 TPD-I7Q6T4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I7Q6T4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I7RCXT Kennedy disease 8B61.4 Orphanet 481 TPD-I7RCXT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I7RCXT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I7RCXT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I7VT5X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-I7VT5X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-I7VT5X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-I7WNOM Noonan syndrome LD2F.15 Orphanet 648 TPD-I7WNOM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I7WNOM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I7WNOM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I7WNOM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I7WNOM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I7WNOM Lynch syndrome 2B90.Y Orphanet 144 TPD-I7WNOM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I7WNOM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I7ZH05 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 2A51 Orphanet 168950 TPD-I7ZH05 Bilateral striopallidodentate calcinosis LD20.4 Orphanet 1980 TPD-I7ZH05 Infantile myofibromatosis 2F7C Orphanet 2591 TPD-I7ZH05 Kosaki overgrowth syndrome LD2C Orphanet 477831 TPD-I7ZH05 Chronic myeloproliferative disease, unclassifiable 2A22 Orphanet 86830 TPD-I810CT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-I810CT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-I88F66 Noonan syndrome LD2F.15 Orphanet 648 TPD-I88F66 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I88F66 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I88F66 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I88F66 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I88F66 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I88F66 Lynch syndrome 2B90.Y Orphanet 144 TPD-I88F66 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I88F66 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I8A1FC Familial melanoma QC61.Y Orphanet 618 TPD-I8A1FC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I8CRXU Kennedy disease 8B61.4 Orphanet 481 TPD-I8CRXU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I8CRXU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I8CRXU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I8DEMX Noonan syndrome LD2F.15 Orphanet 648 TPD-I8DEMX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I8DEMX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I8DEMX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I8DEMX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I8DEMX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I8DEMX Lynch syndrome 2B90.Y Orphanet 144 TPD-I8DEMX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I8DEMX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I8EC0A Noonan syndrome LD2F.15 Orphanet 648 TPD-I8EC0A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I8EC0A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I8EC0A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I8EC0A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I8EC0A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I8EC0A Lynch syndrome 2B90.Y Orphanet 144 TPD-I8EC0A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I8EC0A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I8JDKB Noonan syndrome LD2F.15 Orphanet 648 TPD-I8JDKB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I8JDKB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I8JDKB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I8JDKB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I8JDKB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I8JDKB Lynch syndrome 2B90.Y Orphanet 144 TPD-I8JDKB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I8JDKB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I8LKA4 Noonan syndrome LD2F.15 Orphanet 648 TPD-I8LKA4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I8LKA4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I8LKA4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I8LKA4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I8LKA4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I8LKA4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I8LKA4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I8LKA4 Craniopharyngioma 2F9A Orphanet 54595 TPD-I8LKA4 Cushing disease 5A70.0 Orphanet 96253 TPD-I8NK5J Noonan syndrome LD2F.15 Orphanet 648 TPD-I8NK5J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I8NK5J Metachondromatosis LD24.2Y Orphanet 2499 TPD-I8NK5J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I8O98K Kennedy disease 8B61.4 Orphanet 481 TPD-I8O98K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I8O98K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I8O98K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I8OGKD Kennedy disease 8B61.4 Orphanet 481 TPD-I8OGKD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I8OGKD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I8OGKD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I8PEG3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I8X4AY Noonan syndrome LD2F.15 Orphanet 648 TPD-I8X4AY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-I9340T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I9340T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I98LU2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-I98LU2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-I99C77 Kennedy disease 8B61.4 Orphanet 481 TPD-I99C77 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I99C77 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I99C77 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I9BHQ5 Kennedy disease 8B61.4 Orphanet 481 TPD-I9BHQ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I9BHQ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I9BHQ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I9D2EE Familial melanoma QC61.Y Orphanet 618 TPD-I9D2EE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I9DKL8 Kennedy disease 8B61.4 Orphanet 481 TPD-I9DKL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I9DKL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I9DKL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I9E4A3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I9E4A3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I9E4A3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I9E4A3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I9FJ93 Familial melanoma QC61.Y Orphanet 618 TPD-I9FJ93 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I9FM2V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-I9FN04 Familial melanoma QC61.Y Orphanet 618 TPD-I9FN04 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-I9J3LU CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-I9J9Y4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I9J9Y4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I9KTY1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-I9KTY1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-I9S0SP Noonan syndrome LD2F.15 Orphanet 648 TPD-I9S0SP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-I9S0SP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-I9S0SP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I9S0SP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I9S0SP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-I9S0SP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-I9S0SP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-I9S0SP Craniopharyngioma 2F9A Orphanet 54595 TPD-I9S0SP Cushing disease 5A70.0 Orphanet 96253 TPD-I9SQZ8 Noonan syndrome LD2F.15 Orphanet 648 TPD-I9SQZ8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I9SQZ8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I9SQZ8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I9SQZ8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I9SQZ8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I9SQZ8 Lynch syndrome 2B90.Y Orphanet 144 TPD-I9SQZ8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I9SQZ8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I9TNQF Kennedy disease 8B61.4 Orphanet 481 TPD-I9TNQF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-I9TNQF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-I9TNQF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-I9WRS5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-I9WRS5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-I9WRS5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-I9WRS5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-I9YDX8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IA4KEY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IA5043 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-IA5MAQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IA5MAQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IA6O5U Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-IA6O5U CINCA syndrome 4A60.1 Orphanet 1451 TPD-IA6O5U Familial cold urticaria 4A60.1 Orphanet 47045 TPD-IA7BH4 Kennedy disease 8B61.4 Orphanet 481 TPD-IA7BH4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IA7BH4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IA7BH4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IA7Z3O Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-IA7Z3O Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-IA962T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IA962T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IA9EP5 Noonan syndrome LD2F.15 Orphanet 648 TPD-IA9EP5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IA9EP5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IA9EP5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IA9EP5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IA9EP5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IA9EP5 Lynch syndrome 2B90.Y Orphanet 144 TPD-IA9EP5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IA9EP5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IAAPLY Noonan syndrome LD2F.15 Orphanet 648 TPD-IAAPLY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IAAPLY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IAAPLY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IAAPLY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IAAPLY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IAAPLY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IAAPLY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IAAPLY Craniopharyngioma 2F9A Orphanet 54595 TPD-IAAPLY Cushing disease 5A70.0 Orphanet 96253 TPD-IACXX6 Kennedy disease 8B61.4 Orphanet 481 TPD-IACXX6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IACXX6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IACXX6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IAEGV8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IAEGV8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IAEGV8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IAK9TO Noonan syndrome LD2F.15 Orphanet 648 TPD-IAK9TO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IAK9TO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IAK9TO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IAK9TO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IAK9TO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IAK9TO Lynch syndrome 2B90.Y Orphanet 144 TPD-IAK9TO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IAK9TO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IAKH43 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-IAKH43 MODY 5A13.6 Orphanet 552 TPD-IAKH43 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-IAKH43 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-IANANS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IANHZQ Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-IANHZQ Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-IANHZQ Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-IAP4F2 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-IAPB2Q Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-IAPB2Q Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-IAPB2Q Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-IAPB2Q Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-IAPB2Q Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-IAPB2Q Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-IAPB2Q Semantic dementia 6D83 Orphanet 100069 TPD-IAPB2Q Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-IAQEH8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IAU5AV Familial melanoma QC61.Y Orphanet 618 TPD-IAU5AV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IAV0RS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IAV0RS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IAV0RS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IAW40P Kennedy disease 8B61.4 Orphanet 481 TPD-IAW40P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IAW40P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IAW40P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IAX6AP Noonan syndrome LD2F.15 Orphanet 648 TPD-IAX6AP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IAX6AP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IAX6AP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IAX6AP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IAX6AP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IAX6AP Lynch syndrome 2B90.Y Orphanet 144 TPD-IAX6AP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IAX6AP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IAY43H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IAY43H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IAY43H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IAZG09 Noonan syndrome LD2F.15 Orphanet 648 TPD-IAZG09 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IAZG09 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IAZG09 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IAZG09 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IAZG09 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IAZG09 Lynch syndrome 2B90.Y Orphanet 144 TPD-IAZG09 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IAZG09 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IB39AN Noonan syndrome LD2F.15 Orphanet 648 TPD-IB39AN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IB39AN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IB39AN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IB39AN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IB39AN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IB39AN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IB39AN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IB39AN Craniopharyngioma 2F9A Orphanet 54595 TPD-IB39AN Cushing disease 5A70.0 Orphanet 96253 TPD-IB4TG7 Kennedy disease 8B61.4 Orphanet 481 TPD-IB4TG7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IB4TG7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IB4TG7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IB8QJQ Noonan syndrome LD2F.15 Orphanet 648 TPD-IB8QJQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IB8QJQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IB8QJQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IB8QJQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IB8QJQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IB8QJQ Lynch syndrome 2B90.Y Orphanet 144 TPD-IB8QJQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IB8QJQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IBCHL2 Noonan syndrome LD2F.15 Orphanet 648 TPD-IBCHL2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IBCHL2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IBCHL2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IBCHL2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IBCHL2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IBCHL2 Lynch syndrome 2B90.Y Orphanet 144 TPD-IBCHL2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IBCHL2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IBFG50 Kennedy disease 8B61.4 Orphanet 481 TPD-IBFG50 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IBFG50 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IBFG50 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IBGQI0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IBGQI0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IBIFDL Burkitt lymphoma XH4KA9 Orphanet 543 TPD-IBIFDL Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-IBJCHK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IBLK6L Noonan syndrome LD2F.15 Orphanet 648 TPD-IBLK6L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IBLK6L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IBLK6L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IBLK6L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IBLK6L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IBLK6L Lynch syndrome 2B90.Y Orphanet 144 TPD-IBLK6L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IBLK6L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IBOYQ2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IBOYQ2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IBRXW1 Cystic fibrosis CA25 Orphanet 586 TPD-IBRXW1 Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-IBRYHV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IBRYHV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IBRYHV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IBS4L8 Noonan syndrome LD2F.15 Orphanet 648 TPD-IBS4L8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IBS4L8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IBS4L8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IBS4L8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IBS4L8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IBS4L8 Lynch syndrome 2B90.Y Orphanet 144 TPD-IBS4L8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IBS4L8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IBSA98 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IBVEEB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IBVEEB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IBWJZ6 Kennedy disease 8B61.4 Orphanet 481 TPD-IBWJZ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IBWJZ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IBWJZ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IBXB1E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IBXB1E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IC569Z Noonan syndrome LD2F.15 Orphanet 648 TPD-IC569Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IC569Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IC569Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IC569Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IC569Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IC569Z Lynch syndrome 2B90.Y Orphanet 144 TPD-IC569Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IC569Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IC6RXQ Noonan syndrome LD2F.15 Orphanet 648 TPD-IC6RXQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IC6RXQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IC6RXQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IC6RXQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IC6RXQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IC6RXQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IC6RXQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IC6RXQ Craniopharyngioma 2F9A Orphanet 54595 TPD-IC6RXQ Cushing disease 5A70.0 Orphanet 96253 TPD-IC8S4E Noonan syndrome LD2F.15 Orphanet 648 TPD-IC8S4E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IC8S4E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IC8S4E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IC8S4E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IC8S4E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IC8S4E Lynch syndrome 2B90.Y Orphanet 144 TPD-IC8S4E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IC8S4E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IC9LGU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ICC044 Kennedy disease 8B61.4 Orphanet 481 TPD-ICC044 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ICC044 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ICC044 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ICDVR7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ICIEL8 Noonan syndrome LD2F.15 Orphanet 648 TPD-ICIEL8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ICIEL8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ICIEL8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ICIEL8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ICIEL8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ICIEL8 Lynch syndrome 2B90.Y Orphanet 144 TPD-ICIEL8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ICIEL8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ICJOC6 Kennedy disease 8B61.4 Orphanet 481 TPD-ICJOC6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ICJOC6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ICJOC6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ICK77G Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-ICK77G AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-ICK77G Hemimegalencephaly LA05.1 Orphanet 99802 TPD-ICKLN1 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ICN6BG Weaver syndrome LD2C Orphanet 3447 TPD-ICRUBE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ICRUBE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ICRUBE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ICRUBE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ICWSCX Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ICWSCX Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ICX074 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ICX074 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ICX074 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ICX074 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ICY4Y4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ICY4Y4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ICY4Y4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ICY4Y4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ICY4Y4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ICY4Y4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ICY4Y4 Semantic dementia 6D83 Orphanet 100069 TPD-ICY4Y4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ICZA1U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ICZA1U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ICZMU1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ID01JZ Achondroplasia LD24.00 Orphanet 15 TPD-ID01JZ Hypochondroplasia LD24.01 Orphanet 429 TPD-ID01JZ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-ID01JZ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-ID01JZ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-ID01JZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ID01JZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ID01JZ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-ID01JZ Muenke syndrome LD24.GY Orphanet 53271 TPD-ID01JZ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-ID01JZ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-ID01JZ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-ID0OES Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ID4JCD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ID4JCD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ID4JCD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ID4JCD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ID8XUD Noonan syndrome LD2F.15 Orphanet 648 TPD-ID8XUD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ID8XUD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ID8XUD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ID8XUD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ID8XUD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ID8XUD Lynch syndrome 2B90.Y Orphanet 144 TPD-ID8XUD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ID8XUD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IDALL0 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IDFWNG Familial melanoma QC61.Y Orphanet 618 TPD-IDFWNG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IDGXXS Noonan syndrome LD2F.15 Orphanet 648 TPD-IDGXXS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IDGXXS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IDGXXS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IDGXXS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IDGXXS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IDGXXS Lynch syndrome 2B90.Y Orphanet 144 TPD-IDGXXS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IDGXXS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IDL3QN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IDL3QN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IDMIGN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IDOZUH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IDOZUH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IDQROL Kennedy disease 8B61.4 Orphanet 481 TPD-IDQROL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IDQROL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IDQROL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IDU95V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IE3EZH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IE3EZH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IE4O0G Familial melanoma QC61.Y Orphanet 618 TPD-IE4O0G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IE6643 Noonan syndrome LD2F.15 Orphanet 648 TPD-IE6643 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-IE89BZ Weaver syndrome LD2C Orphanet 3447 TPD-IE8Q71 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IE8Q71 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IE8Q71 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IE9XOX Familial melanoma QC61.Y Orphanet 618 TPD-IE9XOX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IEAP6J Kennedy disease 8B61.4 Orphanet 481 TPD-IEAP6J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IEAP6J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IEAP6J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IEAPRZ Kennedy disease 8B61.4 Orphanet 481 TPD-IEAPRZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IEAPRZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IEAPRZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IEB7ER Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IEBFDH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IEC8SD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IEDJSS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IEDJSS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IEDJSS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IEE0PG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-IEE0PG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-IEK561 Noonan syndrome LD2F.15 Orphanet 648 TPD-IEK561 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IEK561 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IEK561 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IEK561 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IEK561 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IEK561 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IEK561 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IEK561 Craniopharyngioma 2F9A Orphanet 54595 TPD-IEK561 Cushing disease 5A70.0 Orphanet 96253 TPD-IEL8Y0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-IEL8Y0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-IEL8Y0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-IEL8Y0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-IEL8Y0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-IEL8Y0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-IEL8Y0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IEL8Y0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-IEL8Y0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-IEPJCZ Kennedy disease 8B61.4 Orphanet 481 TPD-IEPJCZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IEPJCZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IEPJCZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IEQUJI Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IEQUJI Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IER1JT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IER1JT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IER1JT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IER1JT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IES75Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IES75Z Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IEY64X Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IF08QI Kennedy disease 8B61.4 Orphanet 481 TPD-IF08QI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IF08QI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IF08QI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IF28B3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IF5HIJ Noonan syndrome LD2F.15 Orphanet 648 TPD-IF5HIJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IF5HIJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IF5HIJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IF5HIJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IF5HIJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IF5HIJ Lynch syndrome 2B90.Y Orphanet 144 TPD-IF5HIJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IF5HIJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IF8JJX Familial melanoma QC61.Y Orphanet 618 TPD-IF8JJX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IF9JEN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IF9JEN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IF9JEN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IF9QZP Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IFA99X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IFA99X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IFA99X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IFABDQ Kennedy disease 8B61.4 Orphanet 481 TPD-IFABDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IFABDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IFABDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IFAT23 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IFB22Y Kennedy disease 8B61.4 Orphanet 481 TPD-IFB22Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IFB22Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IFB22Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IFCL4V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IFF451 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IFF451 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IFI84F Familial melanoma QC61.Y Orphanet 618 TPD-IFI84F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IFL1EZ Kennedy disease 8B61.4 Orphanet 481 TPD-IFL1EZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IFL1EZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IFL1EZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IFLONN Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-IFO2CH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IFO2CH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IFO2CH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IFQUPJ Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-IFQUPJ Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-IFQUPJ Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-IFQUPJ Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-IFQUPJ Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-IFR6TN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IFUSBW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IFWGM7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IFY78A Weaver syndrome LD2C Orphanet 3447 TPD-IFYJVM Familial melanoma QC61.Y Orphanet 618 TPD-IFYJVM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IG3L57 Familial melanoma QC61.Y Orphanet 618 TPD-IG3L57 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IG3ZIZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IG3ZIZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IG3ZIZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IG4HC4 Noonan syndrome LD2F.15 Orphanet 648 TPD-IG4HC4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IG4HC4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IG4HC4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IG4HC4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IG4HC4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IG4HC4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IG4HC4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IG4HC4 Craniopharyngioma 2F9A Orphanet 54595 TPD-IG4HC4 Cushing disease 5A70.0 Orphanet 96253 TPD-IG7SJJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IG9773 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IG9773 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IGAR4N Kennedy disease 8B61.4 Orphanet 481 TPD-IGAR4N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IGAR4N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IGAR4N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IGDBCE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IGDBCE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IGDIXZ Noonan syndrome LD2F.15 Orphanet 648 TPD-IGDIXZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IGDIXZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IGDIXZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IGDIXZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IGDIXZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IGDIXZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IGDIXZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IGDIXZ Craniopharyngioma 2F9A Orphanet 54595 TPD-IGDIXZ Cushing disease 5A70.0 Orphanet 96253 TPD-IGJCWM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-IGJCWM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-IGM43J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IGM43J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IGNMJL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IGNMJL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IGNN2M Noonan syndrome LD2F.15 Orphanet 648 TPD-IGNN2M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IGNN2M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IGNN2M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IGNN2M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IGNN2M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IGNN2M Lynch syndrome 2B90.Y Orphanet 144 TPD-IGNN2M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IGNN2M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IGPHRD Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IGT9BG Kennedy disease 8B61.4 Orphanet 481 TPD-IGT9BG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IGT9BG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IGT9BG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IGTKVZ Noonan syndrome LD2F.15 Orphanet 648 TPD-IGTKVZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IGTKVZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IGTKVZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IGTKVZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IGTKVZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IGTKVZ Lynch syndrome 2B90.Y Orphanet 144 TPD-IGTKVZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IGTKVZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IGVCHO Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-IGVCHO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-IGWMR9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IGWMR9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IGWMR9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IGZEEE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IGZEEE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IGZEEE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IH1R0J Noonan syndrome LD2F.15 Orphanet 648 TPD-IH1R0J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IH1R0J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IH1R0J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IH1R0J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IH1R0J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IH1R0J Lynch syndrome 2B90.Y Orphanet 144 TPD-IH1R0J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IH1R0J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IH2TT1 Noonan syndrome LD2F.15 Orphanet 648 TPD-IH2TT1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IH2TT1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IH2TT1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IH2TT1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IH2TT1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IH2TT1 Lynch syndrome 2B90.Y Orphanet 144 TPD-IH2TT1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IH2TT1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IH5TLD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IH5TLD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IH5TLD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IH8OH2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IH8OH2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IH96HJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IH96HJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IHCKMY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IHEFU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-IHEFU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IHEFU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IHEFU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IHEFU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IHEFU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IHEFU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-IHEFU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IHEFU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IHNJLX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IHNJLX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IHNJLX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IHPQNE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IHTS06 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-IHWWO1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IHY50H Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IHY50H Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IHY50H Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-II2ACF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-II2AH5 Noonan syndrome LD2F.15 Orphanet 648 TPD-II2AH5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-II2AH5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-II2AH5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-II2AH5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-II2AH5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-II2AH5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-II2AH5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-II2AH5 Craniopharyngioma 2F9A Orphanet 54595 TPD-II2AH5 Cushing disease 5A70.0 Orphanet 96253 TPD-II2AH5 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-II4LMW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-II4LMW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-II8NVP Kennedy disease 8B61.4 Orphanet 481 TPD-II8NVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-II8NVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-II8NVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-II8UOT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-II8UOT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-II8UOT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-II8UOT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IIBCFL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IIC4TR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IIC4TR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IIC4TR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IIC4TR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IIE4PB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IIE4PB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IIE4PB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IIE4PB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IIJ4XO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IIK4BP Kennedy disease 8B61.4 Orphanet 481 TPD-IIK4BP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IIK4BP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IIK4BP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IIKPKG Kennedy disease 8B61.4 Orphanet 481 TPD-IIKPKG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IIKPKG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IIKPKG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IINOFJ Noonan syndrome LD2F.15 Orphanet 648 TPD-IINOFJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-IINWNR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IIT3FZ Noonan syndrome LD2F.15 Orphanet 648 TPD-IIT3FZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IIT3FZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IIT3FZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IIT3FZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IIT3FZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IIT3FZ Lynch syndrome 2B90.Y Orphanet 144 TPD-IIT3FZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IIT3FZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IIU184 Kennedy disease 8B61.4 Orphanet 481 TPD-IIU184 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IIU184 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IIU184 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IIUFUR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IIUFUR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IIUFUR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IIUXRY Noonan syndrome LD2F.15 Orphanet 648 TPD-IIUXRY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IIUXRY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IIUXRY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IIUXRY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IIUXRY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IIUXRY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IIUXRY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IIUXRY Craniopharyngioma 2F9A Orphanet 54595 TPD-IIUXRY Cushing disease 5A70.0 Orphanet 96253 TPD-IIWCIL Kennedy disease 8B61.4 Orphanet 481 TPD-IIWCIL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IIWCIL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IIWCIL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IIWNCQ Noonan syndrome LD2F.15 Orphanet 648 TPD-IIWNCQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IIWNCQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IIWNCQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IIWNCQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IIWNCQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IIWNCQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IIWNCQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IIWNCQ Craniopharyngioma 2F9A Orphanet 54595 TPD-IIWNCQ Cushing disease 5A70.0 Orphanet 96253 TPD-IIY79V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IIY79V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IIYJPI Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-IIYJPI X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-IJ1NXU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IJ1NXU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IJ24YV Familial melanoma QC61.Y Orphanet 618 TPD-IJ24YV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IJ3TPJ Kennedy disease 8B61.4 Orphanet 481 TPD-IJ3TPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJ3TPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJ3TPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJ3V9O Kennedy disease 8B61.4 Orphanet 481 TPD-IJ3V9O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJ3V9O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJ3V9O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJ7NBT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IJ7NBT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IJ7NBT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IJ8SDH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IJ8SDH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IJ8SDH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IJAJ3R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IJAJ3R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IJAJ3R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IJAJ3R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IJENYE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IJENYE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IJENYE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IJENYE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IJFKF6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-IJFKF6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-IJHPDC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IJHPDC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IJHPDC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IJHVMM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IJHVMM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IJK0L4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IJK0L4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IJKWK9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-IJLNK9 Kennedy disease 8B61.4 Orphanet 481 TPD-IJLNK9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJLNK9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJLNK9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJM88A Noonan syndrome LD2F.15 Orphanet 648 TPD-IJM88A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IJM88A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IJM88A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IJM88A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IJM88A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IJM88A Lynch syndrome 2B90.Y Orphanet 144 TPD-IJM88A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IJM88A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IJNCRS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IJNCRS Neuroblastoma 2A00.11 Orphanet 635 TPD-IJNCRS Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-IJNCRS ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-IJNCRS ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-IJQ3ZY Kennedy disease 8B61.4 Orphanet 481 TPD-IJQ3ZY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJQ3ZY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJQ3ZY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJQ5GI Kennedy disease 8B61.4 Orphanet 481 TPD-IJQ5GI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJQ5GI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJQ5GI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJW0SP Kennedy disease 8B61.4 Orphanet 481 TPD-IJW0SP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IJW0SP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IJW0SP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IJYBJF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IJYBJF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IJZLI8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IJZLI8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IJZSFU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IK8S87 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IK8S87 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IK9IIB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IKASE6 Noonan syndrome LD2F.15 Orphanet 648 TPD-IKASE6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IKASE6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IKASE6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IKASE6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IKASE6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IKASE6 Lynch syndrome 2B90.Y Orphanet 144 TPD-IKASE6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IKASE6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IKF68U Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IKF68U Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IKFCH0 Kennedy disease 8B61.4 Orphanet 481 TPD-IKFCH0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IKFCH0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IKFCH0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IKFHWP Kennedy disease 8B61.4 Orphanet 481 TPD-IKFHWP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IKFHWP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IKFHWP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IKGLY6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IKL6TD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IKL6TD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IKPXTE Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-IKRBP0 Noonan syndrome LD2F.15 Orphanet 648 TPD-IKRBP0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IKRBP0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IKRBP0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IKRBP0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IKRBP0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IKRBP0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IKRBP0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IKRBP0 Craniopharyngioma 2F9A Orphanet 54595 TPD-IKRBP0 Cushing disease 5A70.0 Orphanet 96253 TPD-IKRBP0 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-IKS362 Noonan syndrome LD2F.15 Orphanet 648 TPD-IKS362 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IKS362 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IKS362 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IKS362 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IKS362 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IKS362 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IKS362 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IKS362 Craniopharyngioma 2F9A Orphanet 54595 TPD-IKS362 Cushing disease 5A70.0 Orphanet 96253 TPD-IKT03I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IKT03I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IKUB3B Noonan syndrome LD2F.15 Orphanet 648 TPD-IKUB3B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IKUB3B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IKUB3B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IKUB3B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IKUB3B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IKUB3B Lynch syndrome 2B90.Y Orphanet 144 TPD-IKUB3B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IKUB3B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IKUWQ0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IKUWQ0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IKVQUC Noonan syndrome LD2F.15 Orphanet 648 TPD-IKVQUC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IKVQUC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IKVQUC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IKVQUC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IKVQUC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IKVQUC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IKVQUC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IKVQUC Craniopharyngioma 2F9A Orphanet 54595 TPD-IKVQUC Cushing disease 5A70.0 Orphanet 96253 TPD-IKYFWV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IKYFWV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IL0PPI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IL0PPI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IL0PPI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IL0PPI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IL0QO4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IL0QO4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IL0QO4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IL7DHQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IL7DHQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IL7DHQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ILCH29 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ILCH29 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ILEIGY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ILEIGY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ILEIGY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ILEIGY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ILH1H2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ILH1H2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ILH1H2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ILH1H2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ILLE6M Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-ILM7YF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ILM7YF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ILM7YF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ILM7YF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ILNAKN Kennedy disease 8B61.4 Orphanet 481 TPD-ILNAKN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ILNAKN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ILNAKN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ILWETL Familial melanoma QC61.Y Orphanet 618 TPD-ILWETL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ILX3AZ Noonan syndrome LD2F.15 Orphanet 648 TPD-ILX3AZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ILX3AZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ILX3AZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ILX3AZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ILX3AZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ILX3AZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ILX3AZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ILX3AZ Craniopharyngioma 2F9A Orphanet 54595 TPD-ILX3AZ Cushing disease 5A70.0 Orphanet 96253 TPD-IM0KJS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IM0KJS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IM0KJS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IM0KJS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IM2UO6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IM2UO6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IM5D1N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IM62IL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IM78Z1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IM78Z1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IM8HJR Kennedy disease 8B61.4 Orphanet 481 TPD-IM8HJR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IM8HJR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IM8HJR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IM91C9 Kennedy disease 8B61.4 Orphanet 481 TPD-IM91C9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IM91C9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IM91C9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IMINMT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IMMWRD CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IMO47R Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-IMO47R Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-IMO47R Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-IMO47R Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-IMO47R Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-IMO47R Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-IMO47R Semantic dementia 6D83 Orphanet 100069 TPD-IMO47R Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-IMSSYV Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IMSSYV Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IMW1Y0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IMW1Y0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IMW1Y0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IMXLVM Kennedy disease 8B61.4 Orphanet 481 TPD-IMXLVM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IMXLVM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IMXLVM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IMZ3X6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-IN3JCH Kennedy disease 8B61.4 Orphanet 481 TPD-IN3JCH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IN3JCH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IN3JCH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IN77SI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IN77SI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IN77SI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IN7SUV Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IN83OT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IN8SOC Noonan syndrome LD2F.15 Orphanet 648 TPD-IN8SOC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IN8SOC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IN8SOC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IN8SOC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IN8SOC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IN8SOC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IN8SOC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IN8SOC Craniopharyngioma 2F9A Orphanet 54595 TPD-IN8SOC Cushing disease 5A70.0 Orphanet 96253 TPD-IN9AJS Kennedy disease 8B61.4 Orphanet 481 TPD-IN9AJS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IN9AJS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IN9AJS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-INBR8D Weaver syndrome LD2C Orphanet 3447 TPD-IND79J Burkitt lymphoma XH4KA9 Orphanet 543 TPD-IND79J Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-INDC9R Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-INDC9R Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-INED4H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-INED4H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-INED4H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-INED4H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-INF49E Noonan syndrome LD2F.15 Orphanet 648 TPD-INF49E Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-INF49E Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-INF49E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INF49E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INF49E Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-INF49E Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-INF49E Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-INF49E Craniopharyngioma 2F9A Orphanet 54595 TPD-INF49E Cushing disease 5A70.0 Orphanet 96253 TPD-INFE3F Familial melanoma QC61.Y Orphanet 618 TPD-INFE3F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-INMPB9 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-INMPB9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-INMPB9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-INMPB9 Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-INMPB9 Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-INMPB9 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-INMPB9 Osteosarcoma 2B51 Orphanet 668 TPD-INMPB9 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-INMPB9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INMPB9 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-INMPB9 Small cell lung cancer 2C25.1 Orphanet 70573 TPD-INMPB9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-INMPB9 Cushing disease 5A70.0 Orphanet 96253 TPD-INMPB9 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-INMPB9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-INMVZR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-INNET4 Noonan syndrome LD2F.15 Orphanet 648 TPD-INNET4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-INNET4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INNET4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-INNET4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INNET4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-INNET4 Lynch syndrome 2B90.Y Orphanet 144 TPD-INNET4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INNET4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-INNGO5 Kennedy disease 8B61.4 Orphanet 481 TPD-INNGO5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-INNGO5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-INNGO5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-INNNDN Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-INNON6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-INO9SB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-INOTFP Noonan syndrome LD2F.15 Orphanet 648 TPD-INOTFP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-INOTFP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INOTFP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-INOTFP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INOTFP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-INOTFP Lynch syndrome 2B90.Y Orphanet 144 TPD-INOTFP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INOTFP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-INPNOO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-INT6W3 Noonan syndrome LD2F.15 Orphanet 648 TPD-INT6W3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-INT6W3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INT6W3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-INT6W3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INT6W3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-INT6W3 Lynch syndrome 2B90.Y Orphanet 144 TPD-INT6W3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INT6W3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-INTQ9Y Noonan syndrome LD2F.15 Orphanet 648 TPD-INTQ9Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-INTQ9Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INTQ9Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-INTQ9Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INTQ9Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-INTQ9Y Lynch syndrome 2B90.Y Orphanet 144 TPD-INTQ9Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INTQ9Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-INTY3G Noonan syndrome LD2F.15 Orphanet 648 TPD-INTY3G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-INTY3G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-INTY3G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-INTY3G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-INTY3G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-INTY3G Lynch syndrome 2B90.Y Orphanet 144 TPD-INTY3G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-INTY3G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-INV193 Kennedy disease 8B61.4 Orphanet 481 TPD-INV193 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-INV193 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-INV193 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-INVQRE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-INVQRE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-INWUCR Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-INX3EZ Kennedy disease 8B61.4 Orphanet 481 TPD-INX3EZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-INX3EZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-INX3EZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-INYPO2 Kennedy disease 8B61.4 Orphanet 481 TPD-INYPO2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-INYPO2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-INYPO2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IO0CXE Noonan syndrome LD2F.15 Orphanet 648 TPD-IO0CXE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IO0CXE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IO0CXE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IO0CXE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IO0CXE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IO0CXE Lynch syndrome 2B90.Y Orphanet 144 TPD-IO0CXE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IO0CXE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IO0FHR Achondroplasia LD24.00 Orphanet 15 TPD-IO0FHR Hypochondroplasia LD24.01 Orphanet 429 TPD-IO0FHR Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-IO0FHR Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-IO0FHR Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-IO0FHR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IO0FHR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IO0FHR Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-IO0FHR Muenke syndrome LD24.GY Orphanet 53271 TPD-IO0FHR Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-IO0FHR Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-IO0FHR Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-IO0I0V Noonan syndrome LD2F.15 Orphanet 648 TPD-IO0I0V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IO0I0V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IO0I0V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IO0I0V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IO0I0V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IO0I0V Lynch syndrome 2B90.Y Orphanet 144 TPD-IO0I0V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IO0I0V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IO24BW Noonan syndrome LD2F.15 Orphanet 648 TPD-IO24BW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IO24BW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IO24BW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IO24BW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IO24BW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IO24BW Lynch syndrome 2B90.Y Orphanet 144 TPD-IO24BW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IO24BW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IO72HB Kennedy disease 8B61.4 Orphanet 481 TPD-IO72HB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IO72HB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IO72HB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IO8NVU Kennedy disease 8B61.4 Orphanet 481 TPD-IO8NVU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IO8NVU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IO8NVU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IOBQJM Noonan syndrome LD2F.15 Orphanet 648 TPD-IOBQJM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IOBQJM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IOBQJM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IOBQJM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IOBQJM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IOBQJM Lynch syndrome 2B90.Y Orphanet 144 TPD-IOBQJM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IOBQJM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IOFY0J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IOJ2CT Noonan syndrome LD2F.15 Orphanet 648 TPD-IOJ2CT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IOJ2CT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IOJ2CT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IOJ2CT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IOJ2CT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IOJ2CT Lynch syndrome 2B90.Y Orphanet 144 TPD-IOJ2CT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IOJ2CT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IOKJ61 Familial melanoma QC61.Y Orphanet 618 TPD-IOKJ61 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IOKZSZ Noonan syndrome LD2F.15 Orphanet 648 TPD-IOKZSZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IOKZSZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IOKZSZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IOKZSZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IOKZSZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IOKZSZ Lynch syndrome 2B90.Y Orphanet 144 TPD-IOKZSZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IOKZSZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IOOOEQ Kennedy disease 8B61.4 Orphanet 481 TPD-IOOOEQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IOOOEQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IOOOEQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IOQ2IB Kennedy disease 8B61.4 Orphanet 481 TPD-IOQ2IB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IOQ2IB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IOQ2IB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IOQBVX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IOQT0R Kennedy disease 8B61.4 Orphanet 481 TPD-IOQT0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IOQT0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IOQT0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IORT80 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IORT80 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IORT80 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IOXSG0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IOXSG0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IOXSG0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IOYEO5 Familial melanoma QC61.Y Orphanet 618 TPD-IOYEO5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IP1Z14 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IP1Z14 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IP1Z14 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IP3DKO Noonan syndrome LD2F.15 Orphanet 648 TPD-IP3DKO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IP3DKO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IP3DKO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IP3DKO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IP3DKO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IP3DKO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IP3DKO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IP3DKO Craniopharyngioma 2F9A Orphanet 54595 TPD-IP3DKO Cushing disease 5A70.0 Orphanet 96253 TPD-IP4FXO Familial melanoma QC61.Y Orphanet 618 TPD-IP4FXO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IP4LFE Weaver syndrome LD2C Orphanet 3447 TPD-IP4NXW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IP4NXW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IP4NXW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IP4NXW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IPAMX5 Kennedy disease 8B61.4 Orphanet 481 TPD-IPAMX5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IPAMX5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IPAMX5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IPBCU4 Noonan syndrome LD2F.15 Orphanet 648 TPD-IPBCU4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IPBCU4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IPBCU4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IPBCU4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IPBCU4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IPBCU4 Lynch syndrome 2B90.Y Orphanet 144 TPD-IPBCU4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IPBCU4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IPCHNI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IPCHNI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IPCHNI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IPEKE2 Kennedy disease 8B61.4 Orphanet 481 TPD-IPEKE2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IPEKE2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IPEKE2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IPEN0P Noonan syndrome LD2F.15 Orphanet 648 TPD-IPEN0P Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IPEN0P Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IPEN0P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IPEN0P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IPEN0P Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IPEN0P Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IPEN0P Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IPEN0P Craniopharyngioma 2F9A Orphanet 54595 TPD-IPEN0P Cushing disease 5A70.0 Orphanet 96253 TPD-IPGYBI Kennedy disease 8B61.4 Orphanet 481 TPD-IPGYBI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IPGYBI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IPGYBI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IPIVF3 Kennedy disease 8B61.4 Orphanet 481 TPD-IPIVF3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IPIVF3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IPIVF3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IPNDUY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IPNDUY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IPOYSE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IPPULD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IPPULD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IPR07B Kennedy disease 8B61.4 Orphanet 481 TPD-IPR07B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IPR07B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IPR07B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IPRPPR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IPRPPR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IPUAA8 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-IPUAA8 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-IPXI0G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IPXL9A Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IPXL9A Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IPY0KR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IPY0KR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IPY0KR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IPZHXC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IQ63MI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IQ63MI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IQ63MI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IQ81FR Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-IQ81FR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IQ81FR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-IQ81FR Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-IQ81FR MODY 5A13.6 Orphanet 552 TPD-IQ81FR Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-IQ81FR Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-IQ9QFJ Noonan syndrome LD2F.15 Orphanet 648 TPD-IQ9QFJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IQ9QFJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IQ9QFJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IQ9QFJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IQ9QFJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IQ9QFJ Lynch syndrome 2B90.Y Orphanet 144 TPD-IQ9QFJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IQ9QFJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IQJIY5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IQJIY5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IQJU45 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IQJU45 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IQJU45 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IQJU45 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IQMFBY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IQQF8Y Noonan syndrome LD2F.15 Orphanet 648 TPD-IQQF8Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IQQF8Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IQQF8Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IQQF8Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IQQF8Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IQQF8Y Lynch syndrome 2B90.Y Orphanet 144 TPD-IQQF8Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IQQF8Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IQS5CQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IQSF9V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IQSF9V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IQSF9V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IQSF9V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IQVXH2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IQVXH2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IQVXH2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IQVXH2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IQWK6Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IQZ5PP Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IQZ5PP Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IRD4CU Kennedy disease 8B61.4 Orphanet 481 TPD-IRD4CU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IRD4CU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IRD4CU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IRERB0 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-IRERB0 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-IRG8KK Kennedy disease 8B61.4 Orphanet 481 TPD-IRG8KK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IRG8KK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IRG8KK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IRHHK5 Noonan syndrome LD2F.15 Orphanet 648 TPD-IRHHK5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IRHHK5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IRHHK5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IRHHK5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IRHHK5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IRHHK5 Lynch syndrome 2B90.Y Orphanet 144 TPD-IRHHK5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IRHHK5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IRNHNX Kennedy disease 8B61.4 Orphanet 481 TPD-IRNHNX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IRNHNX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IRNHNX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IRO1KH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IRO1KH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IRPP7U Noonan syndrome LD2F.15 Orphanet 648 TPD-IRPP7U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IRPP7U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IRPP7U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IRPP7U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IRPP7U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IRPP7U Lynch syndrome 2B90.Y Orphanet 144 TPD-IRPP7U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IRPP7U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IRSH1L Kennedy disease 8B61.4 Orphanet 481 TPD-IRSH1L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IRSH1L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IRSH1L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IRUIQK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IRUIQK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IRUIQK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IRV5XQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IRV5XQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IRV5XQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IRV5XQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IRVBN2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IRVBN2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IRVBN2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IRX5OU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-IRX5OU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-IRX5OU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-IRX5OU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-IRX5OU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-IRX5OU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-IRX5OU Semantic dementia 6D83 Orphanet 100069 TPD-IRX5OU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-IS022T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IS2FPE Noonan syndrome LD2F.15 Orphanet 648 TPD-IS2FPE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IS2FPE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IS2FPE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IS2FPE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IS2FPE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IS2FPE Lynch syndrome 2B90.Y Orphanet 144 TPD-IS2FPE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IS2FPE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IS3SO4 Noonan syndrome LD2F.15 Orphanet 648 TPD-IS3SO4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IS3SO4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IS3SO4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IS3SO4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IS3SO4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IS3SO4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IS3SO4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IS3SO4 Craniopharyngioma 2F9A Orphanet 54595 TPD-IS3SO4 Cushing disease 5A70.0 Orphanet 96253 TPD-IS6LGX Kennedy disease 8B61.4 Orphanet 481 TPD-IS6LGX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IS6LGX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IS6LGX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IS8L1E Noonan syndrome LD2F.15 Orphanet 648 TPD-IS8L1E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IS8L1E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IS8L1E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IS8L1E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IS8L1E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IS8L1E Lynch syndrome 2B90.Y Orphanet 144 TPD-IS8L1E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IS8L1E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ISEK0K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ISEK0K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ISEK0K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ISPBDQ Noonan syndrome LD2F.15 Orphanet 648 TPD-ISPBDQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ISPBDQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ISPBDQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ISPBDQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ISPBDQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ISPBDQ Lynch syndrome 2B90.Y Orphanet 144 TPD-ISPBDQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ISPBDQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ISPK20 Noonan syndrome LD2F.15 Orphanet 648 TPD-ISPK20 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ISPK20 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ISPK20 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ISPK20 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ISPK20 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ISPK20 Lynch syndrome 2B90.Y Orphanet 144 TPD-ISPK20 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ISPK20 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ISWBMQ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ISWBMQ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ISYIVU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ISYIVU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ISYIVU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ISYIVU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ISYIVU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ISYIVU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ISYIVU Semantic dementia 6D83 Orphanet 100069 TPD-ISYIVU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ISYTYU Kennedy disease 8B61.4 Orphanet 481 TPD-ISYTYU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ISYTYU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ISYTYU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ISZ69Z Noonan syndrome LD2F.15 Orphanet 648 TPD-ISZ69Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ISZ69Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ISZ69Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ISZ69Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ISZ69Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ISZ69Z Lynch syndrome 2B90.Y Orphanet 144 TPD-ISZ69Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ISZ69Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IT1JD0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IT2G2R Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IT3WWO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IT3WWO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IT3WWO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IT4B9U CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IT8C4Y Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-IT958P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ITB2VU Kennedy disease 8B61.4 Orphanet 481 TPD-ITB2VU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ITB2VU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ITB2VU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ITEVY0 Noonan syndrome LD2F.15 Orphanet 648 TPD-ITEVY0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ITEVY0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ITEVY0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ITEVY0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ITEVY0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ITEVY0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ITEVY0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ITEVY0 Craniopharyngioma 2F9A Orphanet 54595 TPD-ITEVY0 Cushing disease 5A70.0 Orphanet 96253 TPD-ITH54Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ITHY1L CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ITKGCJ Noonan syndrome LD2F.15 Orphanet 648 TPD-ITKGCJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ITKGCJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ITKGCJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ITKGCJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ITKGCJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ITKGCJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ITKGCJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ITKGCJ Craniopharyngioma 2F9A Orphanet 54595 TPD-ITKGCJ Cushing disease 5A70.0 Orphanet 96253 TPD-ITKNLI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ITKNLI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ITKNLI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ITNE6H Noonan syndrome LD2F.15 Orphanet 648 TPD-ITNE6H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ITNE6H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ITNE6H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ITNE6H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ITNE6H Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ITNE6H Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ITNE6H Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ITNE6H Craniopharyngioma 2F9A Orphanet 54595 TPD-ITNE6H Cushing disease 5A70.0 Orphanet 96253 TPD-ITNT9D Kennedy disease 8B61.4 Orphanet 481 TPD-ITNT9D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ITNT9D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ITNT9D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ITNZUV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ITOU8S Achondroplasia LD24.00 Orphanet 15 TPD-ITOU8S Hypochondroplasia LD24.01 Orphanet 429 TPD-ITOU8S Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-ITOU8S Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-ITOU8S Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-ITOU8S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ITOU8S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ITOU8S Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-ITOU8S Muenke syndrome LD24.GY Orphanet 53271 TPD-ITOU8S Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-ITOU8S Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-ITOU8S Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-ITRZSQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ITRZSQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ITSA97 Noonan syndrome LD2F.15 Orphanet 648 TPD-ITSA97 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ITSA97 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ITSA97 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ITSA97 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ITSA97 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ITSA97 Lynch syndrome 2B90.Y Orphanet 144 TPD-ITSA97 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ITSA97 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ITT1LA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ITT1LA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ITT1LA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ITUTZ6 Kennedy disease 8B61.4 Orphanet 481 TPD-ITUTZ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ITUTZ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ITUTZ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IU0GWX Noonan syndrome LD2F.15 Orphanet 648 TPD-IU0GWX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IU0GWX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IU0GWX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IU0GWX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IU0GWX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IU0GWX Lynch syndrome 2B90.Y Orphanet 144 TPD-IU0GWX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IU0GWX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IU0VYK Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-IU0VYK CINCA syndrome 4A60.1 Orphanet 1451 TPD-IU0VYK Familial cold urticaria 4A60.1 Orphanet 47045 TPD-IU10UV Noonan syndrome LD2F.15 Orphanet 648 TPD-IU10UV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IU10UV Metachondromatosis LD24.2Y Orphanet 2499 TPD-IU10UV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IU1F0O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IU1F0O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IU1F0O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IU2J6E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IU9YH8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IUALFP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IUALFP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IUALFP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IUALFP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IUC7PT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-IUC7PT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-IUC7PT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-IUC7PT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-IUC7PT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-IUC7PT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-IUC7PT Semantic dementia 6D83 Orphanet 100069 TPD-IUC7PT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-IUCID1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IUDH3X Noonan syndrome LD2F.15 Orphanet 648 TPD-IUDH3X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IUDH3X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IUDH3X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IUDH3X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IUDH3X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IUDH3X Lynch syndrome 2B90.Y Orphanet 144 TPD-IUDH3X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IUDH3X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IUEPES Kennedy disease 8B61.4 Orphanet 481 TPD-IUEPES Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IUEPES Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IUEPES Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IUJXMD Kennedy disease 8B61.4 Orphanet 481 TPD-IUJXMD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IUJXMD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IUJXMD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IUO0FD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IUO0FD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IUO0FD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IUTY8J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IUTY8J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IUVL30 Noonan syndrome LD2F.15 Orphanet 648 TPD-IUVL30 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IUVL30 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IUVL30 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IUVL30 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IUVL30 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IUVL30 Lynch syndrome 2B90.Y Orphanet 144 TPD-IUVL30 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IUVL30 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IUXJIW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IV0TDA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IV1YRF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IV1YRF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IV4FJK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IV4IJI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IV75QY Kennedy disease 8B61.4 Orphanet 481 TPD-IV75QY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IV75QY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IV75QY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IV83JA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IV9DUY Familial melanoma QC61.Y Orphanet 618 TPD-IV9DUY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IVBIY0 Noonan syndrome LD2F.15 Orphanet 648 TPD-IVBIY0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IVBIY0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IVBIY0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IVBIY0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IVBIY0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IVBIY0 Lynch syndrome 2B90.Y Orphanet 144 TPD-IVBIY0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IVBIY0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IVE6X7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IVE6X7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IVE6X7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IVE6X7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IVEIZZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-IVFFC5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IVFFC5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IVL9J1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IVL9J1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IVL9J1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IVN2VA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IVY6DL Noonan syndrome LD2F.15 Orphanet 648 TPD-IVY6DL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IVY6DL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IVY6DL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IVY6DL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IVY6DL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IVY6DL Lynch syndrome 2B90.Y Orphanet 144 TPD-IVY6DL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IVY6DL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IW03GQ Kennedy disease 8B61.4 Orphanet 481 TPD-IW03GQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IW03GQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IW03GQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IW09VR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IW0HZH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IW0HZH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IW13MX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IW1EFW Noonan syndrome LD2F.15 Orphanet 648 TPD-IW1EFW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IW1EFW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IW1EFW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IW1EFW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IW1EFW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IW1EFW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IW1EFW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IW1EFW Craniopharyngioma 2F9A Orphanet 54595 TPD-IW1EFW Cushing disease 5A70.0 Orphanet 96253 TPD-IW41CB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IW41CB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IW41CB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IW4Q3F Familial melanoma QC61.Y Orphanet 618 TPD-IW4Q3F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IW6ELQ Noonan syndrome LD2F.15 Orphanet 648 TPD-IW6ELQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IW6ELQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IW6ELQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IW6ELQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IW6ELQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IW6ELQ Lynch syndrome 2B90.Y Orphanet 144 TPD-IW6ELQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IW6ELQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IW93YX Familial melanoma QC61.Y Orphanet 618 TPD-IW93YX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IWD4A1 Familial melanoma QC61.Y Orphanet 618 TPD-IWD4A1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IWDNUJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IWDNUJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IWDNUJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IWF3XD Achondroplasia LD24.00 Orphanet 15 TPD-IWF3XD Hypochondroplasia LD24.01 Orphanet 429 TPD-IWF3XD Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-IWF3XD Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-IWF3XD Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-IWF3XD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IWF3XD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IWF3XD Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-IWF3XD Muenke syndrome LD24.GY Orphanet 53271 TPD-IWF3XD Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-IWF3XD Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-IWF3XD Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-IWJYH0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IWJYH0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IWJYH0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IWL6VC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IWL6VC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IWLGCG Familial melanoma QC61.Y Orphanet 618 TPD-IWLGCG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IWPG6B Noonan syndrome LD2F.15 Orphanet 648 TPD-IWPG6B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IWPG6B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IWPG6B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IWPG6B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IWPG6B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IWPG6B Lynch syndrome 2B90.Y Orphanet 144 TPD-IWPG6B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IWPG6B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IWQCI5 Noonan syndrome LD2F.15 Orphanet 648 TPD-IWQCI5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IWQCI5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IWQCI5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IWQCI5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IWQCI5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IWQCI5 Lynch syndrome 2B90.Y Orphanet 144 TPD-IWQCI5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IWQCI5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IWRY4C Kennedy disease 8B61.4 Orphanet 481 TPD-IWRY4C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IWRY4C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IWRY4C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IWU8TU Kennedy disease 8B61.4 Orphanet 481 TPD-IWU8TU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IWU8TU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IWU8TU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IWVAIX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IWVAIX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IWVAIX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IWVAIX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IWXSAN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IWXSAN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IX1H3W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IX37R3 Noonan syndrome LD2F.15 Orphanet 648 TPD-IX37R3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IX37R3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IX37R3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IX37R3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IX37R3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IX37R3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IX37R3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IX37R3 Craniopharyngioma 2F9A Orphanet 54595 TPD-IX37R3 Cushing disease 5A70.0 Orphanet 96253 TPD-IX44SP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IX44SP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-IX5NQ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-IX5NQ3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IX5NQ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IX5NQ3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IX5NQ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IX5NQ3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IX5NQ3 Lynch syndrome 2B90.Y Orphanet 144 TPD-IX5NQ3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IX5NQ3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IX8QAU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IX8QAU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IX8QAU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IX9V1Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IX9V1Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IXD6YF Familial melanoma QC61.Y Orphanet 618 TPD-IXD6YF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IXFF6R Kennedy disease 8B61.4 Orphanet 481 TPD-IXFF6R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IXFF6R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IXFF6R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IXSO1I Kennedy disease 8B61.4 Orphanet 481 TPD-IXSO1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IXSO1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IXSO1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IXTYN8 Weaver syndrome LD2C Orphanet 3447 TPD-IXUEHF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IXUEHF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IXZ62R Noonan syndrome LD2F.15 Orphanet 648 TPD-IXZ62R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IXZ62R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IXZ62R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IXZ62R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IXZ62R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IXZ62R Lynch syndrome 2B90.Y Orphanet 144 TPD-IXZ62R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IXZ62R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IY1Z55 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IY1Z55 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IY2VY7 Noonan syndrome LD2F.15 Orphanet 648 TPD-IY2VY7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IY2VY7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IY2VY7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IY2VY7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IY2VY7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IY2VY7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IY2VY7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IY2VY7 Craniopharyngioma 2F9A Orphanet 54595 TPD-IY2VY7 Cushing disease 5A70.0 Orphanet 96253 TPD-IY2ZU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-IY2ZU1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IY2ZU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IY2ZU1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IY2ZU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IY2ZU1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IY2ZU1 Lynch syndrome 2B90.Y Orphanet 144 TPD-IY2ZU1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IY2ZU1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IY4XDB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IY4XDB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-IY4XDB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IY59BI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IY6XPU Kennedy disease 8B61.4 Orphanet 481 TPD-IY6XPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IY6XPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IY6XPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IY764N Kennedy disease 8B61.4 Orphanet 481 TPD-IY764N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IY764N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IY764N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IY7UWE Kennedy disease 8B61.4 Orphanet 481 TPD-IY7UWE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IY7UWE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IY7UWE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IY8E7N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-IY8E7N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-IY8E7N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-IY8ROV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IYF8NE Noonan syndrome LD2F.15 Orphanet 648 TPD-IYF8NE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IYF8NE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IYF8NE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IYF8NE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IYF8NE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IYF8NE Lynch syndrome 2B90.Y Orphanet 144 TPD-IYF8NE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IYF8NE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IYFWPH Kennedy disease 8B61.4 Orphanet 481 TPD-IYFWPH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IYFWPH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IYFWPH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IYG8I6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-IYG8I6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-IYMNJ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IYN17M Kennedy disease 8B61.4 Orphanet 481 TPD-IYN17M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IYN17M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IYN17M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IYQCVH Kennedy disease 8B61.4 Orphanet 481 TPD-IYQCVH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IYQCVH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IYQCVH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IYQZTE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-IYQZTE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-IYQZTE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-IYQZTE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-IYRX7I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-IYSKS2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-IYSKS2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-IYSS31 Familial melanoma QC61.Y Orphanet 618 TPD-IYSS31 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-IYXWM8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-IYZWCR Kennedy disease 8B61.4 Orphanet 481 TPD-IYZWCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IYZWCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IYZWCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IZ5OQO Noonan syndrome LD2F.15 Orphanet 648 TPD-IZ5OQO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-IZ5OQO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-IZ5OQO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IZ5OQO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IZ5OQO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-IZ5OQO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-IZ5OQO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-IZ5OQO Craniopharyngioma 2F9A Orphanet 54595 TPD-IZ5OQO Cushing disease 5A70.0 Orphanet 96253 TPD-IZAN0X Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-IZFCS1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-IZFCS1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-IZFCS1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-IZFCS1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-IZFCS1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-IZFCS1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-IZFCS1 Semantic dementia 6D83 Orphanet 100069 TPD-IZFCS1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-IZIPSF Noonan syndrome LD2F.15 Orphanet 648 TPD-IZIPSF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IZIPSF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IZIPSF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IZIPSF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IZIPSF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IZIPSF Lynch syndrome 2B90.Y Orphanet 144 TPD-IZIPSF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IZIPSF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IZUG2W Kennedy disease 8B61.4 Orphanet 481 TPD-IZUG2W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IZUG2W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IZUG2W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-IZXKD3 Kennedy disease 8B61.4 Orphanet 481 TPD-IZXKD3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-IZXKD3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-IZXKD3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J003G6 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-J00LW3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J00LW3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J00LW3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J034W1 Noonan syndrome LD2F.15 Orphanet 648 TPD-J034W1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J034W1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J034W1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J034W1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J034W1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J034W1 Lynch syndrome 2B90.Y Orphanet 144 TPD-J034W1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J034W1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J06IYX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J0C31Q Noonan syndrome LD2F.15 Orphanet 648 TPD-J0C31Q Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-J0C31Q Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J0C31Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J0C31Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J0C31Q Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-J0C31Q Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-J0C31Q Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-J0C31Q Craniopharyngioma 2F9A Orphanet 54595 TPD-J0C31Q Cushing disease 5A70.0 Orphanet 96253 TPD-J0HCK8 Kennedy disease 8B61.4 Orphanet 481 TPD-J0HCK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J0HCK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J0HCK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J0JCCA Noonan syndrome LD2F.15 Orphanet 648 TPD-J0JCCA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J0JCCA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J0JCCA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J0JCCA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J0JCCA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J0JCCA Lynch syndrome 2B90.Y Orphanet 144 TPD-J0JCCA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J0JCCA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J0JWPM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J0KJDJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-J0KJDJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-J0KJDJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-J0KJDJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-J0KJDJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-J0KJDJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-J0KJDJ Semantic dementia 6D83 Orphanet 100069 TPD-J0KJDJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-J0L3NI Familial melanoma QC61.Y Orphanet 618 TPD-J0L3NI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J0LU2F Familial melanoma QC61.Y Orphanet 618 TPD-J0LU2F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J0NMEO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J0O32U Kennedy disease 8B61.4 Orphanet 481 TPD-J0O32U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J0O32U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J0O32U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J0SMPG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J0SMPG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-J0T9QL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J0YAEQ Noonan syndrome LD2F.15 Orphanet 648 TPD-J0YAEQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J0YAEQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J0YAEQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J0YAEQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J0YAEQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J0YAEQ Lynch syndrome 2B90.Y Orphanet 144 TPD-J0YAEQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J0YAEQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J0ZKN3 Noonan syndrome LD2F.15 Orphanet 648 TPD-J0ZKN3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-J0ZKN3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J0ZKN3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J0ZKN3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J0ZKN3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-J0ZKN3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-J0ZKN3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-J0ZKN3 Craniopharyngioma 2F9A Orphanet 54595 TPD-J0ZKN3 Cushing disease 5A70.0 Orphanet 96253 TPD-J147ED Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J16I56 Kennedy disease 8B61.4 Orphanet 481 TPD-J16I56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J16I56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J16I56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J16UYO Kennedy disease 8B61.4 Orphanet 481 TPD-J16UYO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J16UYO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J16UYO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J18RN7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J1AP3I Kennedy disease 8B61.4 Orphanet 481 TPD-J1AP3I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J1AP3I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J1AP3I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J1EGD1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J1F07H Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J1F07H Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J1F07H Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J1F8FU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J1F8FU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J1F8FU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J1F8FU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J1HXMK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J1HXMK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J1IL3V Weaver syndrome LD2C Orphanet 3447 TPD-J1IL3V Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-J1IO3B Noonan syndrome LD2F.15 Orphanet 648 TPD-J1IO3B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J1IO3B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J1IO3B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J1IO3B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J1IO3B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J1IO3B Lynch syndrome 2B90.Y Orphanet 144 TPD-J1IO3B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J1IO3B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J1PS6I Burkitt lymphoma XH4KA9 Orphanet 543 TPD-J1PS6I Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-J1PS6I Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-J1Q2ON Kennedy disease 8B61.4 Orphanet 481 TPD-J1Q2ON Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J1Q2ON Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J1Q2ON Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J1QYIU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J1QYIU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J1QYIU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J1QYIU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J1R1J9 Kennedy disease 8B61.4 Orphanet 481 TPD-J1R1J9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J1R1J9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J1R1J9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J1T1JB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J1T1JB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J1T1JB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J1U0LN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J1U0LN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J1U0LN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J1XBDQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J1XBDQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J1XBDQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J1XBDQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J1ZRTG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J1ZRTG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J1ZRTG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J23WGN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J23WGN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J24DD2 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-J25QHR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J2AUQR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J2AUQR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J2AUQR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J2AUQR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J2DYV0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J2H94T Kennedy disease 8B61.4 Orphanet 481 TPD-J2H94T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J2H94T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J2H94T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J2HCQ4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J2HCQ4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J2HLA9 Noonan syndrome LD2F.15 Orphanet 648 TPD-J2HLA9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J2HLA9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J2HLA9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J2HLA9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J2HLA9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J2HLA9 Lynch syndrome 2B90.Y Orphanet 144 TPD-J2HLA9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J2HLA9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J2HNMZ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-J2LEOF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J2LEOF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J2LEOF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J2LK9B Familial melanoma QC61.Y Orphanet 618 TPD-J2LK9B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J2MQ0R Familial melanoma QC61.Y Orphanet 618 TPD-J2QLWF Kennedy disease 8B61.4 Orphanet 481 TPD-J2QLWF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J2QLWF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J2QLWF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J2RQMV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J2RQMV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J2RQMV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J2RYDY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J2RYDY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J2RYDY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J2S35O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J2SPF5 Kennedy disease 8B61.4 Orphanet 481 TPD-J2SPF5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J2SPF5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J2SPF5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J2TTWH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J2TTWH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J2TTWH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J2Y3CE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J2Y3CE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J30B5O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J30B5O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J30ZD6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J30ZD6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J30ZD6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J31AQG Kennedy disease 8B61.4 Orphanet 481 TPD-J31AQG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J31AQG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J31AQG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J31ZG8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J32W5G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J32W5G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J32W5G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J33YAH Noonan syndrome LD2F.15 Orphanet 648 TPD-J33YAH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J33YAH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J33YAH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J33YAH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J33YAH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J33YAH Lynch syndrome 2B90.Y Orphanet 144 TPD-J33YAH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J33YAH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J38OB5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J38OB5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J39BAQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J3ADNO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J3EK1D Burkitt lymphoma XH4KA9 Orphanet 543 TPD-J3EK1D Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-J3EK1D Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-J3GK1S Noonan syndrome LD2F.15 Orphanet 648 TPD-J3GK1S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J3GK1S Metachondromatosis LD24.2Y Orphanet 2499 TPD-J3GK1S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J3GPM3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J3GTS4 Kennedy disease 8B61.4 Orphanet 481 TPD-J3GTS4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J3GTS4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J3GTS4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J3I2H5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J3I2H5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J3I2H5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J3IO93 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J3IO93 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J3IO93 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J3IPRA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J3JAH3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J3JKK1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J3KJF1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J3KV22 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J3LGIK Kennedy disease 8B61.4 Orphanet 481 TPD-J3LGIK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J3LGIK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J3LGIK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J3MT5J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J3MT5J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J3NBI8 Noonan syndrome LD2F.15 Orphanet 648 TPD-J3NBI8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J3NBI8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J3NBI8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J3NBI8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J3NBI8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J3NBI8 Lynch syndrome 2B90.Y Orphanet 144 TPD-J3NBI8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J3NBI8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J3OUDR Kennedy disease 8B61.4 Orphanet 481 TPD-J3OUDR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J3OUDR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J3OUDR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J3QFWZ Kennedy disease 8B61.4 Orphanet 481 TPD-J3QFWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J3QFWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J3QFWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J3QZ9M Kennedy disease 8B61.4 Orphanet 481 TPD-J3QZ9M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J3QZ9M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J3QZ9M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J3S4O5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J3S4O5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J3S4O5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J3TNAZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J3VN9X Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-J3VN9X Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-J3WO6Z Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-J41NTJ Familial melanoma QC61.Y Orphanet 618 TPD-J41NTJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J41XFQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J43LVS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J450WO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J450WO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J450WO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J45W4B Kennedy disease 8B61.4 Orphanet 481 TPD-J45W4B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J45W4B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J45W4B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J47LXM Familial melanoma QC61.Y Orphanet 618 TPD-J47LXM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J49Q9H Kennedy disease 8B61.4 Orphanet 481 TPD-J49Q9H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J49Q9H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J49Q9H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J4A4R9 Noonan syndrome LD2F.15 Orphanet 648 TPD-J4A4R9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J4A4R9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J4A4R9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J4A4R9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J4A4R9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J4A4R9 Lynch syndrome 2B90.Y Orphanet 144 TPD-J4A4R9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J4A4R9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J4ALGR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J4KSK2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J4KSK2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J4KSK2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J4KSK2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J4L0VR Kennedy disease 8B61.4 Orphanet 481 TPD-J4L0VR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J4L0VR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J4L0VR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J4LAQ2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-J4LAQ2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-J4LAQ2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-J4LAQ2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-J4LAQ2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-J4LAQ2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-J4LAQ2 Semantic dementia 6D83 Orphanet 100069 TPD-J4LAQ2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-J4LU36 Noonan syndrome LD2F.15 Orphanet 648 TPD-J4LU36 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-J4NGJX Kennedy disease 8B61.4 Orphanet 481 TPD-J4NGJX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J4NGJX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J4NGJX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J4PMFQ Noonan syndrome LD2F.15 Orphanet 648 TPD-J4PMFQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-J4PTX7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J4QK7F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-J4QK7F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-J4QK7F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-J4R8W4 Kennedy disease 8B61.4 Orphanet 481 TPD-J4R8W4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J4R8W4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J4R8W4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J4R8YR Noonan syndrome LD2F.15 Orphanet 648 TPD-J4R8YR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J4R8YR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J4R8YR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J4R8YR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J4R8YR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J4R8YR Lynch syndrome 2B90.Y Orphanet 144 TPD-J4R8YR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J4R8YR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J4UHZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-J4UHZ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J4UHZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J4UHZ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J4UHZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J4UHZ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J4UHZ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-J4UHZ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J4UHZ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J4VHCG Kennedy disease 8B61.4 Orphanet 481 TPD-J4VHCG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J4VHCG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J4VHCG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J4W73J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J4W73J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J4X2TB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J4X2TB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J4X2TB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J52K8P Kennedy disease 8B61.4 Orphanet 481 TPD-J52K8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J52K8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J52K8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J54VJE Familial melanoma QC61.Y Orphanet 618 TPD-J54VJE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J58TW1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J59GF6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J5EAPX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J5JAA2 Noonan syndrome LD2F.15 Orphanet 648 TPD-J5JAA2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J5JAA2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J5JAA2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J5JAA2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J5JAA2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J5JAA2 Lynch syndrome 2B90.Y Orphanet 144 TPD-J5JAA2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J5JAA2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J5JUR0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J5K807 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J5K807 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J5KTYF Kennedy disease 8B61.4 Orphanet 481 TPD-J5KTYF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J5KTYF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J5KTYF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J5LH05 Familial melanoma QC61.Y Orphanet 618 TPD-J5LH05 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J5ORNU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J5ORNU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J5ORNU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J5WHF3 Familial melanoma QC61.Y Orphanet 618 TPD-J5WHF3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J5Y8UL Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-J60J0T Noonan syndrome LD2F.15 Orphanet 648 TPD-J60J0T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J60J0T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J60J0T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J60J0T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J60J0T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J60J0T Lynch syndrome 2B90.Y Orphanet 144 TPD-J60J0T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J60J0T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J61CIB Noonan syndrome LD2F.15 Orphanet 648 TPD-J61CIB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-J61CIB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J61CIB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J61CIB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J61CIB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-J61CIB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-J61CIB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-J61CIB Craniopharyngioma 2F9A Orphanet 54595 TPD-J61CIB Cushing disease 5A70.0 Orphanet 96253 TPD-J63H8G Kennedy disease 8B61.4 Orphanet 481 TPD-J63H8G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J63H8G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J63H8G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J63IOC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J63IOC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J63IOC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J63IOC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J65QM0 Kennedy disease 8B61.4 Orphanet 481 TPD-J65QM0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J65QM0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J65QM0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J65UL3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J68VB6 Kennedy disease 8B61.4 Orphanet 481 TPD-J68VB6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J68VB6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J68VB6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J6AV0R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J6ESX9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J6ESX9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J6ESX9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J6ESX9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J6H39T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-J6H39T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-J6H39T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-J6MKRJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J6MKRJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J6MKRJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J6MKRJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J6MU79 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J6MU79 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J6NQ1V Kennedy disease 8B61.4 Orphanet 481 TPD-J6NQ1V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J6NQ1V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J6NQ1V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J6UUEV Kennedy disease 8B61.4 Orphanet 481 TPD-J6UUEV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J6UUEV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J6UUEV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J6VNAC Noonan syndrome LD2F.15 Orphanet 648 TPD-J6VNAC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-J6VNAC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J6VNAC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J6VNAC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J6VNAC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-J6VNAC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-J6VNAC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-J6VNAC Craniopharyngioma 2F9A Orphanet 54595 TPD-J6VNAC Cushing disease 5A70.0 Orphanet 96253 TPD-J6YRYX Kennedy disease 8B61.4 Orphanet 481 TPD-J6YRYX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J6YRYX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J6YRYX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J705UK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-J705UK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-J705UK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-J705UK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-J72YW1 Familial melanoma QC61.Y Orphanet 618 TPD-J72YW1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-J76Z2W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J7A3HY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J7AREZ Kennedy disease 8B61.4 Orphanet 481 TPD-J7AREZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J7AREZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J7AREZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J7L01Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J7L01Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-J7L0VF Kennedy disease 8B61.4 Orphanet 481 TPD-J7L0VF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J7L0VF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J7L0VF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J7L5RY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J7MBSR Noonan syndrome LD2F.15 Orphanet 648 TPD-J7MBSR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J7MBSR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J7MBSR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J7MBSR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J7MBSR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J7MBSR Lynch syndrome 2B90.Y Orphanet 144 TPD-J7MBSR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J7MBSR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J7OYJV Kennedy disease 8B61.4 Orphanet 481 TPD-J7OYJV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J7OYJV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J7OYJV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J7QAA9 Noonan syndrome LD2F.15 Orphanet 648 TPD-J7QAA9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J7QAA9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J7QAA9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J7QAA9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J7QAA9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J7QAA9 Lynch syndrome 2B90.Y Orphanet 144 TPD-J7QAA9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J7QAA9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J7RMTE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J7VR9H Noonan syndrome LD2F.15 Orphanet 648 TPD-J7VR9H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J7VR9H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J7VR9H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J7VR9H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J7VR9H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J7VR9H Lynch syndrome 2B90.Y Orphanet 144 TPD-J7VR9H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J7VR9H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J7WTTQ Noonan syndrome LD2F.15 Orphanet 648 TPD-J7WTTQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-J7WTTQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-J7WTTQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J7WTTQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J7WTTQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-J7WTTQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-J7WTTQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-J7WTTQ Craniopharyngioma 2F9A Orphanet 54595 TPD-J7WTTQ Cushing disease 5A70.0 Orphanet 96253 TPD-J83EG7 Kennedy disease 8B61.4 Orphanet 481 TPD-J83EG7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J83EG7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J83EG7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J8648I Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-J8648I Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-J8749V Kennedy disease 8B61.4 Orphanet 481 TPD-J8749V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J8749V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J8749V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J89WWC Noonan syndrome LD2F.15 Orphanet 648 TPD-J89WWC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J89WWC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J89WWC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J89WWC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J89WWC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J89WWC Lynch syndrome 2B90.Y Orphanet 144 TPD-J89WWC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J89WWC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J8EGGR Kennedy disease 8B61.4 Orphanet 481 TPD-J8EGGR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J8EGGR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J8EGGR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J8KJTR Noonan syndrome LD2F.15 Orphanet 648 TPD-J8KJTR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J8KJTR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J8KJTR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J8KJTR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J8KJTR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J8KJTR Lynch syndrome 2B90.Y Orphanet 144 TPD-J8KJTR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J8KJTR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J8LYEV Noonan syndrome LD2F.15 Orphanet 648 TPD-J8LYEV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-J8QGJ2 Kennedy disease 8B61.4 Orphanet 481 TPD-J8QGJ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J8QGJ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J8QGJ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J8WPWV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-J8XFB0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-J8XFB0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-J8XZ7V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J9011V Kennedy disease 8B61.4 Orphanet 481 TPD-J9011V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J9011V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J9011V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J92AKE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-J955FL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J96NZF Kennedy disease 8B61.4 Orphanet 481 TPD-J96NZF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J96NZF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J96NZF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J9CMRK Kennedy disease 8B61.4 Orphanet 481 TPD-J9CMRK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J9CMRK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J9CMRK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J9H2AR Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-J9H2AR Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-J9H2AR Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-J9H7TR Kennedy disease 8B61.4 Orphanet 481 TPD-J9H7TR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J9H7TR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J9H7TR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J9JQPJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-J9JQPJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-J9N6J2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-J9N7A2 Kennedy disease 8B61.4 Orphanet 481 TPD-J9N7A2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J9N7A2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J9N7A2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J9NKAE Kennedy disease 8B61.4 Orphanet 481 TPD-J9NKAE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-J9NKAE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-J9NKAE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-J9QB3A Familial melanoma QC61.Y Orphanet 618 TPD-J9XIRA Noonan syndrome LD2F.15 Orphanet 648 TPD-J9XIRA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J9XIRA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J9XIRA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J9XIRA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J9XIRA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J9XIRA Lynch syndrome 2B90.Y Orphanet 144 TPD-J9XIRA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J9XIRA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JA1N74 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JA1N74 Wilson-Turner syndrome LD29 Orphanet 3459 TPD-JA4PH3 Kennedy disease 8B61.4 Orphanet 481 TPD-JA4PH3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JA4PH3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JA4PH3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JA5OZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-JA5OZ7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JA5OZ7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JA5OZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JA5OZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JA5OZ7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JA5OZ7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JA5OZ7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JA5OZ7 Craniopharyngioma 2F9A Orphanet 54595 TPD-JA5OZ7 Cushing disease 5A70.0 Orphanet 96253 TPD-JA83P1 Kennedy disease 8B61.4 Orphanet 481 TPD-JA83P1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JA83P1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JA83P1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JA9QOD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JAH3CR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JAH3CR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JAIJX9 Kennedy disease 8B61.4 Orphanet 481 TPD-JAIJX9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JAIJX9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JAIJX9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JAJ8H8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JAJRID Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-JAMQBD Noonan syndrome LD2F.15 Orphanet 648 TPD-JAMQBD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JAMQBD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JAMQBD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JAMQBD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JAMQBD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JAMQBD Lynch syndrome 2B90.Y Orphanet 144 TPD-JAMQBD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JAMQBD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JAQ6QG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JAQ6QG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JAQ6QG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JAQI0V X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-JATOQO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JATOQO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JATOQO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JAWV55 Noonan syndrome LD2F.15 Orphanet 648 TPD-JAWV55 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JAWV55 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JAWV55 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JAWV55 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JAWV55 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JAWV55 Lynch syndrome 2B90.Y Orphanet 144 TPD-JAWV55 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JAWV55 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JAXMY1 Familial melanoma QC61.Y Orphanet 618 TPD-JAXMY1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JAZCLU Familial melanoma QC61.Y Orphanet 618 TPD-JAZCLU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JB05OZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JB05OZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JB05OZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JB05OZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JB2ZA1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JB45KP Kennedy disease 8B61.4 Orphanet 481 TPD-JB45KP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JB45KP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JB45KP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JB75F9 Kennedy disease 8B61.4 Orphanet 481 TPD-JB75F9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JB75F9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JB75F9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JB8FB8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JBBG8K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JBBG8K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JBBG8K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JBLN0X Kennedy disease 8B61.4 Orphanet 481 TPD-JBLN0X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JBLN0X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JBLN0X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JBP525 Kennedy disease 8B61.4 Orphanet 481 TPD-JBP525 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JBP525 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JBP525 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JBQ27M Familial melanoma QC61.Y Orphanet 618 TPD-JBQ27M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JBUIVB Familial melanoma QC61.Y Orphanet 618 TPD-JBUIVB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JBUOBZ Burkitt lymphoma XH4KA9 Orphanet 543 TPD-JBUOBZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JBUOBZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JBVIPV Noonan syndrome LD2F.15 Orphanet 648 TPD-JBVIPV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JBVIPV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JBVIPV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JBVIPV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JBVIPV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JBVIPV Lynch syndrome 2B90.Y Orphanet 144 TPD-JBVIPV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JBVIPV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JBZ00O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JBZ5LN Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-JBZ5LN Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-JBZZHA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JC0MI5 Noonan syndrome LD2F.15 Orphanet 648 TPD-JC0MI5 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JC35MA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JC35MA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JC35MA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JC4C9G Kennedy disease 8B61.4 Orphanet 481 TPD-JC4C9G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JC4C9G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JC4C9G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JC5RRE Noonan syndrome LD2F.15 Orphanet 648 TPD-JC5RRE Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JCA82J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JCA82J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JCA82J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JCA82J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JCDLQE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JCDLQE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JCDLQE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JCE33C Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JCE33C Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JCE33C Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JCE33C Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JCE33C Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JCE33C Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JCE33C Semantic dementia 6D83 Orphanet 100069 TPD-JCE33C Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JCFJKY Noonan syndrome LD2F.15 Orphanet 648 TPD-JCFJKY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JCFJKY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JCFJKY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JCFJKY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JCFJKY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JCFJKY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JCFJKY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JCFJKY Craniopharyngioma 2F9A Orphanet 54595 TPD-JCFJKY Cushing disease 5A70.0 Orphanet 96253 TPD-JCJFBP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JCKGUR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JCQQL9 Kennedy disease 8B61.4 Orphanet 481 TPD-JCQQL9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JCQQL9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JCQQL9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JCS9MP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JCS9MP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JCS9MP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JCVSQG Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JCVUO0 Familial melanoma QC61.Y Orphanet 618 TPD-JCVUO0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JCVZV2 Familial melanoma QC61.Y Orphanet 618 TPD-JCVZV2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JCYN7N Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JCZI4N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JCZI4N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JCZI4N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JD2MIX Kennedy disease 8B61.4 Orphanet 481 TPD-JD2MIX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JD2MIX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JD2MIX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JD6YBJ Achondroplasia LD24.00 Orphanet 15 TPD-JD6YBJ Hypochondroplasia LD24.01 Orphanet 429 TPD-JD6YBJ Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-JD6YBJ Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-JD6YBJ Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-JD6YBJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JD6YBJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JD6YBJ Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-JD6YBJ Muenke syndrome LD24.GY Orphanet 53271 TPD-JD6YBJ Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-JD6YBJ Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-JD6YBJ Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-JDCDZJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JDCDZJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JDCDZJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JDCDZJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JDDXWD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JDE8DW Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-JDE8DW Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-JDF8AF Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-JDF8AF Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-JDF8AF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JDF8AF Distal myopathy, Welander type 8C75 Orphanet 603 TPD-JDF8AF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JDF8AF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JDF8AF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JDF8AF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JDF8AF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JDF8AF Semantic dementia 6D83 Orphanet 100069 TPD-JDF8AF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JDG9MM Noonan syndrome LD2F.15 Orphanet 648 TPD-JDG9MM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JDG9MM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JDG9MM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JDG9MM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JDG9MM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JDG9MM Lynch syndrome 2B90.Y Orphanet 144 TPD-JDG9MM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JDG9MM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JDHOBJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JDHOBJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JDIA8J Kennedy disease 8B61.4 Orphanet 481 TPD-JDIA8J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JDIA8J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JDIA8J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JDL4C9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JDPVGM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-JDPVGM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-JDR3H6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JDR3H6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JDR3H6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JDUF4N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JDUF4N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JDUF4N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JDYGC0 Weaver syndrome LD2C Orphanet 3447 TPD-JDYH2G Noonan syndrome LD2F.15 Orphanet 648 TPD-JDYH2G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JDYH2G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JDYH2G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JDYH2G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JDYH2G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JDYH2G Lynch syndrome 2B90.Y Orphanet 144 TPD-JDYH2G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JDYH2G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JE0GJU Noonan syndrome LD2F.15 Orphanet 648 TPD-JE0GJU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JE0GJU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JE0GJU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JE0GJU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JE0GJU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JE0GJU Lynch syndrome 2B90.Y Orphanet 144 TPD-JE0GJU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JE0GJU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JE0JZ3 Kennedy disease 8B61.4 Orphanet 481 TPD-JE0JZ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JE0JZ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JE0JZ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JE3RT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-JE3RT2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JE3RT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JE3RT2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JE3RT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JE3RT2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JE3RT2 Lynch syndrome 2B90.Y Orphanet 144 TPD-JE3RT2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JE3RT2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JE7BN6 Familial melanoma QC61.Y Orphanet 618 TPD-JE7BN6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JEAEYC Burkitt lymphoma XH4KA9 Orphanet 543 TPD-JEAEYC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JEAEYC Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JEE87A Kennedy disease 8B61.4 Orphanet 481 TPD-JEE87A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JEE87A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JEE87A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JEK5LR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JEK5LR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JEK5LR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JENNOW Kennedy disease 8B61.4 Orphanet 481 TPD-JENNOW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JENNOW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JENNOW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JENVEN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JENVEN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JESAKC Kennedy disease 8B61.4 Orphanet 481 TPD-JESAKC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JESAKC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JESAKC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JEVKI1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JEVKI1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JEYIBA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JEYIBA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JEYIBA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JEZFXU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JF0LYS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JF3UEK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JF3UEK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JF3UEK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JF64R2 Noonan syndrome LD2F.15 Orphanet 648 TPD-JF64R2 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JFAGOV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JFAGOV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JFAGOV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JFE127 Noonan syndrome LD2F.15 Orphanet 648 TPD-JFE127 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JFEH3I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JFEH3I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JFF0OL Kennedy disease 8B61.4 Orphanet 481 TPD-JFF0OL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JFF0OL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JFF0OL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JFKYX6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JFKYX6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JFKYX6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JFKYX6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JFVBR1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JFVKRF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JFX6VU Noonan syndrome LD2F.15 Orphanet 648 TPD-JFX6VU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JFX6VU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JFX6VU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JFX6VU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JFX6VU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JFX6VU Lynch syndrome 2B90.Y Orphanet 144 TPD-JFX6VU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JFX6VU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JFX72R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JFX72R Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JFXOE8 Familial melanoma QC61.Y Orphanet 618 TPD-JFXOE8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JFY9K0 Kennedy disease 8B61.4 Orphanet 481 TPD-JFY9K0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JFY9K0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JFY9K0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JFZ9YN Kennedy disease 8B61.4 Orphanet 481 TPD-JFZ9YN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JFZ9YN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JFZ9YN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JG06DF Kennedy disease 8B61.4 Orphanet 481 TPD-JG06DF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JG06DF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JG06DF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JG3DC8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JG3DC8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JG6V7O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JG6V7O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JG6V7O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JG6V7O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JGEM76 Kennedy disease 8B61.4 Orphanet 481 TPD-JGEM76 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JGEM76 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JGEM76 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JGF7LY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JGF7LY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JGF7LY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JGGKOK Noonan syndrome LD2F.15 Orphanet 648 TPD-JGGKOK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JGGKOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JGGKOK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JGGKOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JGGKOK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JGGKOK Lynch syndrome 2B90.Y Orphanet 144 TPD-JGGKOK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JGGKOK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JGGWZ8 Kennedy disease 8B61.4 Orphanet 481 TPD-JGGWZ8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JGGWZ8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JGGWZ8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JGIBZM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JGIBZM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JGJ18X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JGJ18X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JGJ18X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JGJ18X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JGK8IB Noonan syndrome LD2F.15 Orphanet 648 TPD-JGK8IB Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JGKEYW Noonan syndrome LD2F.15 Orphanet 648 TPD-JGKEYW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JGKEYW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JGKEYW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JGKEYW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JGKEYW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JGKEYW Lynch syndrome 2B90.Y Orphanet 144 TPD-JGKEYW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JGKEYW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JGM9NP Noonan syndrome LD2F.15 Orphanet 648 TPD-JGM9NP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JGM9NP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JGM9NP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JGM9NP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JGM9NP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JGM9NP Lynch syndrome 2B90.Y Orphanet 144 TPD-JGM9NP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JGM9NP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JGMKV1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JGRYBF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JGSA3L Kennedy disease 8B61.4 Orphanet 481 TPD-JGSA3L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JGSA3L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JGSA3L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JGUHLC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JGUHLC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JGUHLC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JGUI7N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JGUI7N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JGZ27J Noonan syndrome LD2F.15 Orphanet 648 TPD-JGZ27J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JGZ27J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JGZ27J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JGZ27J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JGZ27J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JGZ27J Lynch syndrome 2B90.Y Orphanet 144 TPD-JGZ27J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JGZ27J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JGZEJF Noonan syndrome LD2F.15 Orphanet 648 TPD-JGZEJF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JH2FYY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JH2FYY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JH2FYY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JH725M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JH7TOA Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-JH7TOA Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-JHAX7D Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-JHAX7D Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-JHEN8M Noonan syndrome LD2F.15 Orphanet 648 TPD-JHEN8M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JHEN8M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JHEN8M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JHEN8M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JHEN8M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JHEN8M Lynch syndrome 2B90.Y Orphanet 144 TPD-JHEN8M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JHEN8M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JHFJML Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-JHFJML Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-JHFZQ3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JHMGPI Kennedy disease 8B61.4 Orphanet 481 TPD-JHMGPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JHMGPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JHMGPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JHMLHO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JHO0S6 Noonan syndrome LD2F.15 Orphanet 648 TPD-JHO0S6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JHO0S6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JHO0S6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JHO0S6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JHO0S6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JHO0S6 Lynch syndrome 2B90.Y Orphanet 144 TPD-JHO0S6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JHO0S6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JHP5VH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JHP5VH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JHP5VH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JHSMZO Kennedy disease 8B61.4 Orphanet 481 TPD-JHSMZO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JHSMZO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JHSMZO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JHVDO7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JHVDO7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JHWX8J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JHWX8J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JHXRQ9 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-JHZRCM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JHZRCM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JHZRCM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JI3PJA Kennedy disease 8B61.4 Orphanet 481 TPD-JI3PJA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JI3PJA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JI3PJA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JI6ARL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JI6ARL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JI8M3B Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-JI9DL7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JICBL2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JICBL2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JID038 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JID038 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JID038 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JID038 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JIDXLL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JIDXLL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JIDXLL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JIK2FU Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JIL0UV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JIL0UV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JIL0UV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JINBZ7 Kennedy disease 8B61.4 Orphanet 481 TPD-JINBZ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JINBZ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JINBZ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JIPFF1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JIX68N Familial melanoma QC61.Y Orphanet 618 TPD-JIX68N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JIY8V7 Noonan syndrome LD2F.15 Orphanet 648 TPD-JIY8V7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JIY8V7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JIY8V7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JIY8V7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JIY8V7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JIY8V7 Lynch syndrome 2B90.Y Orphanet 144 TPD-JIY8V7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JIY8V7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JIZDQ2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JIZDQ2 Neuroblastoma 2A00.11 Orphanet 635 TPD-JIZDQ2 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-JIZDQ2 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-JIZDQ2 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-JJ06EH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JJ06EH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JJ06EH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JJ06EH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JJ0V5S CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JJ3U83 Kennedy disease 8B61.4 Orphanet 481 TPD-JJ3U83 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JJ3U83 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JJ3U83 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JJCGDY Noonan syndrome LD2F.15 Orphanet 648 TPD-JJCGDY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJCGDY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJCGDY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJCGDY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJCGDY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJCGDY Lynch syndrome 2B90.Y Orphanet 144 TPD-JJCGDY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJCGDY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JJDWEP Familial melanoma QC61.Y Orphanet 618 TPD-JJDWEP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JJED9I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JJHCBU Familial melanoma QC61.Y Orphanet 618 TPD-JJJABX Noonan syndrome LD2F.15 Orphanet 648 TPD-JJJABX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJJABX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJJABX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJJABX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJJABX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJJABX Lynch syndrome 2B90.Y Orphanet 144 TPD-JJJABX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJJABX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JJKA7Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JJKA7Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JJKA7Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JJKBBN Noonan syndrome LD2F.15 Orphanet 648 TPD-JJKBBN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JJLUXP Kennedy disease 8B61.4 Orphanet 481 TPD-JJLUXP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JJLUXP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JJLUXP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JJPRKE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JJPRKE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JJPRKE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JJSRCD Noonan syndrome LD2F.15 Orphanet 648 TPD-JJSRCD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJSRCD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJSRCD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJSRCD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJSRCD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJSRCD Lynch syndrome 2B90.Y Orphanet 144 TPD-JJSRCD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJSRCD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JJUW4F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JJUW4F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JJVTP8 Noonan syndrome LD2F.15 Orphanet 648 TPD-JJVTP8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJVTP8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJVTP8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJVTP8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJVTP8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJVTP8 Lynch syndrome 2B90.Y Orphanet 144 TPD-JJVTP8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJVTP8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JJXDOK Noonan syndrome LD2F.15 Orphanet 648 TPD-JJXDOK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJXDOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJXDOK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJXDOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJXDOK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJXDOK Lynch syndrome 2B90.Y Orphanet 144 TPD-JJXDOK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJXDOK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JJXSVI Weaver syndrome LD2C Orphanet 3447 TPD-JJYI92 Noonan syndrome LD2F.15 Orphanet 648 TPD-JJYI92 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JJYI92 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JJYI92 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JJYI92 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JJYI92 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JJYI92 Lynch syndrome 2B90.Y Orphanet 144 TPD-JJYI92 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JJYI92 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JK0RV5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JK0RV5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JK0RV5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JK2QDZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JK2QDZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JK2QDZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JK2ZL7 Noonan syndrome LD2F.15 Orphanet 648 TPD-JK2ZL7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JK2ZL7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JK2ZL7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JK2ZL7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JK2ZL7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JK2ZL7 Lynch syndrome 2B90.Y Orphanet 144 TPD-JK2ZL7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JK2ZL7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JK4XCQ Familial melanoma QC61.Y Orphanet 618 TPD-JK4XCQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JK6NSQ Kennedy disease 8B61.4 Orphanet 481 TPD-JK6NSQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JK6NSQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JK6NSQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JKA3BQ Noonan syndrome LD2F.15 Orphanet 648 TPD-JKA3BQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JKA3BQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JKA3BQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JKA3BQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JKA3BQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JKA3BQ Lynch syndrome 2B90.Y Orphanet 144 TPD-JKA3BQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JKA3BQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JKB2N7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JKB843 Noonan syndrome LD2F.15 Orphanet 648 TPD-JKB843 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JKB843 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JKB843 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JKB843 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JKB843 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JKB843 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JKB843 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JKB843 Craniopharyngioma 2F9A Orphanet 54595 TPD-JKB843 Cushing disease 5A70.0 Orphanet 96253 TPD-JKDY80 Kennedy disease 8B61.4 Orphanet 481 TPD-JKDY80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JKDY80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JKDY80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JKGVK7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JKGVK7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JKGVK7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JKHE43 Noonan syndrome LD2F.15 Orphanet 648 TPD-JKHE43 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JKHE43 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JKHE43 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JKHE43 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JKHE43 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JKHE43 Lynch syndrome 2B90.Y Orphanet 144 TPD-JKHE43 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JKHE43 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JKI9HE Kennedy disease 8B61.4 Orphanet 481 TPD-JKI9HE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JKI9HE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JKI9HE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JKKKVL Kennedy disease 8B61.4 Orphanet 481 TPD-JKKKVL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JKKKVL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JKKKVL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JKLZBM Kennedy disease 8B61.4 Orphanet 481 TPD-JKLZBM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JKLZBM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JKLZBM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JKNULG Familial melanoma QC61.Y Orphanet 618 TPD-JKNULG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JKQ029 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JKQJKM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JKWAQ2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JKXVSH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JL0SHJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JL0SHJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JL0YEH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JL0YEH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JL0YEH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JL0YZE Kennedy disease 8B61.4 Orphanet 481 TPD-JL0YZE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JL0YZE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JL0YZE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JL2DMR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JL2DMR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JL2PT2 Familial melanoma QC61.Y Orphanet 618 TPD-JL2PT2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JL2PW1 Kennedy disease 8B61.4 Orphanet 481 TPD-JL2PW1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JL2PW1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JL2PW1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JL2UW0 X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-JL3M08 Familial melanoma QC61.Y Orphanet 618 TPD-JL3M08 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JL4664 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JL6O4E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JL6O4E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JL6O4E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JL6O4E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JLBIPT Noonan syndrome LD2F.15 Orphanet 648 TPD-JLBIPT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JLBIPT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JLBIPT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JLBIPT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JLBIPT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JLBIPT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JLBIPT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JLBIPT Craniopharyngioma 2F9A Orphanet 54595 TPD-JLBIPT Cushing disease 5A70.0 Orphanet 96253 TPD-JLC2WN Kennedy disease 8B61.4 Orphanet 481 TPD-JLC2WN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JLC2WN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JLC2WN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JLGGZY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JLGGZY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JLGGZY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JLI5C0 Kennedy disease 8B61.4 Orphanet 481 TPD-JLI5C0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JLI5C0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JLI5C0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JLK30Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JLK30Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JLK30Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JLKO0R Kennedy disease 8B61.4 Orphanet 481 TPD-JLKO0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JLKO0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JLKO0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JLMNUU Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JLMSY2 Noonan syndrome LD2F.15 Orphanet 648 TPD-JLMSY2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JLMSY2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JLMSY2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JLMSY2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JLMSY2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JLMSY2 Lynch syndrome 2B90.Y Orphanet 144 TPD-JLMSY2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JLMSY2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JLP0AI Kennedy disease 8B61.4 Orphanet 481 TPD-JLP0AI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JLP0AI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JLP0AI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JLPQF1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JLQIK8 Familial melanoma QC61.Y Orphanet 618 TPD-JLQIK8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JLQS0Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JLQS0Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JLQS0Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JLRWQN Kennedy disease 8B61.4 Orphanet 481 TPD-JLRWQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JLRWQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JLRWQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JLS9U5 Noonan syndrome LD2F.15 Orphanet 648 TPD-JLS9U5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JLS9U5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JLS9U5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JLS9U5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JLS9U5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JLS9U5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JLS9U5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JLS9U5 Craniopharyngioma 2F9A Orphanet 54595 TPD-JLS9U5 Cushing disease 5A70.0 Orphanet 96253 TPD-JLT7FU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JLT7FU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JLT7FU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JLT7FU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JLVCS7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JM1LAW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JM1LAW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JM1LAW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JMCDY1 Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-JMCDY1 Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-JMCDY1 Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-JMCDY1 Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-JMCDY1 Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-JMDKJS Familial melanoma QC61.Y Orphanet 618 TPD-JMDKJS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JMEW2R Kennedy disease 8B61.4 Orphanet 481 TPD-JMEW2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JMEW2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JMEW2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JMGIFW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-JMGIFW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-JMGZ0H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JMGZ0H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JMGZ0H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JMGZ0H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JMIPR9 Noonan syndrome LD2F.15 Orphanet 648 TPD-JMIPR9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JMIPR9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JMIPR9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JMIPR9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JMIPR9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JMIPR9 Lynch syndrome 2B90.Y Orphanet 144 TPD-JMIPR9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JMIPR9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JMJG8S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JMJG8S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JMJG8S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JMJG8S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JMKL5C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JMMW1J Noonan syndrome LD2F.15 Orphanet 648 TPD-JMMW1J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JMMW1J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JMMW1J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JMMW1J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JMMW1J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JMMW1J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JMMW1J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JMMW1J Craniopharyngioma 2F9A Orphanet 54595 TPD-JMMW1J Cushing disease 5A70.0 Orphanet 96253 TPD-JMNCLG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JMNCLG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JMNCLG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JMNCLG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JMOWW2 Noonan syndrome LD2F.15 Orphanet 648 TPD-JMOWW2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JMOWW2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JMOWW2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JMOWW2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JMOWW2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JMOWW2 Lynch syndrome 2B90.Y Orphanet 144 TPD-JMOWW2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JMOWW2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JMPB4V Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-JMPB4V Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-JMPQHS Noonan syndrome LD2F.15 Orphanet 648 TPD-JMPQHS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JMPQHS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JMPQHS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JMPQHS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JMPQHS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JMPQHS Lynch syndrome 2B90.Y Orphanet 144 TPD-JMPQHS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JMPQHS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JMR026 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JMR026 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JMT19G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JMT19G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JMVRAI Noonan syndrome LD2F.15 Orphanet 648 TPD-JMVRAI Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JN03KV Kennedy disease 8B61.4 Orphanet 481 TPD-JN03KV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JN03KV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JN03KV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JN1Y3A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JN4UA5 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-JN4UA5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JN5G65 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JN5MYH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-JN5MYH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-JN5QZ9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JN5QZ9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JN75EN Familial melanoma QC61.Y Orphanet 618 TPD-JN75EN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JN8KJE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JNAV5R Kennedy disease 8B61.4 Orphanet 481 TPD-JNAV5R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JNAV5R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JNAV5R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JND8L9 Kennedy disease 8B61.4 Orphanet 481 TPD-JND8L9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JND8L9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JND8L9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JNE2FS Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JNGJPZ Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-JNI20P Kennedy disease 8B61.4 Orphanet 481 TPD-JNI20P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JNI20P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JNI20P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JNIGRM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JNLFVS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JNOC95 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JNR66H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JNR66H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JNR66H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JNRAEL Weaver syndrome LD2C Orphanet 3447 TPD-JNRMOJ Noonan syndrome LD2F.15 Orphanet 648 TPD-JNRMOJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JNRMOJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JNRMOJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JNRMOJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JNRMOJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JNRMOJ Lynch syndrome 2B90.Y Orphanet 144 TPD-JNRMOJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JNRMOJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JNTTF2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JNTTF2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JNTTF2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JNVJOD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JNVJOD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JNVJOD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JNWWWD Kennedy disease 8B61.4 Orphanet 481 TPD-JNWWWD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JNWWWD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JNWWWD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JNY2BJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JNY2BJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JNY2BJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JNY2BJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JNYXT4 Noonan syndrome LD2F.15 Orphanet 648 TPD-JNYXT4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JNYXT4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JNYXT4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JNYXT4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JNYXT4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JNYXT4 Lynch syndrome 2B90.Y Orphanet 144 TPD-JNYXT4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JNYXT4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JO2HSK Noonan syndrome LD2F.15 Orphanet 648 TPD-JO2HSK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JO2HSK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JO2HSK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JO2HSK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JO2HSK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JO2HSK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JO2HSK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JO2HSK Craniopharyngioma 2F9A Orphanet 54595 TPD-JO2HSK Cushing disease 5A70.0 Orphanet 96253 TPD-JO2TG1 Familial melanoma QC61.Y Orphanet 618 TPD-JO2TG1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JO5F20 Kennedy disease 8B61.4 Orphanet 481 TPD-JO5F20 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JO5F20 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JO5F20 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JO6BHS Noonan syndrome LD2F.15 Orphanet 648 TPD-JO6BHS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JO6BHS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JO6BHS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JO6BHS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JO6BHS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JO6BHS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JO6BHS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JO6BHS Craniopharyngioma 2F9A Orphanet 54595 TPD-JO6BHS Cushing disease 5A70.0 Orphanet 96253 TPD-JO8DSE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JOAMFM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JOAMFM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JOAMFM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JOCU7X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JOCU7X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JOCU7X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JOEYTU Kennedy disease 8B61.4 Orphanet 481 TPD-JOEYTU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JOEYTU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JOEYTU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JOFHNV Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JOFWYA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JOKG7B Kennedy disease 8B61.4 Orphanet 481 TPD-JOKG7B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JOKG7B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JOKG7B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JOKGCB Noonan syndrome LD2F.15 Orphanet 648 TPD-JOKGCB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JOKGCB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JOKGCB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JOKGCB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JOKGCB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JOKGCB Lynch syndrome 2B90.Y Orphanet 144 TPD-JOKGCB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JOKGCB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JOM7YL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JOO5E7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JOO5E7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JOO5E7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JOO5E7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JOS4VO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JOS4VO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JOW9GO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JOW9GO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JOW9GO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JOYP1W Kennedy disease 8B61.4 Orphanet 481 TPD-JOYP1W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JOYP1W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JOYP1W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JP0V89 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JP4TOF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JP4TOF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JP5KJI Noonan syndrome LD2F.15 Orphanet 648 TPD-JP5KJI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JP5KJI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JP5KJI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JP5KJI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JP5KJI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JP5KJI Lynch syndrome 2B90.Y Orphanet 144 TPD-JP5KJI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JP5KJI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JP5NYO Noonan syndrome LD2F.15 Orphanet 648 TPD-JP5NYO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JP5NYO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JP5NYO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JP5NYO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JP5NYO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JP5NYO Lynch syndrome 2B90.Y Orphanet 144 TPD-JP5NYO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JP5NYO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JPANGK Kennedy disease 8B61.4 Orphanet 481 TPD-JPANGK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JPANGK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JPANGK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JPCVN4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JPDEH2 Familial melanoma QC61.Y Orphanet 618 TPD-JPDEH2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JPE8HM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JPE8HM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JPELOY Noonan syndrome LD2F.15 Orphanet 648 TPD-JPELOY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JPELOY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JPELOY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JPELOY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JPELOY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JPELOY Lynch syndrome 2B90.Y Orphanet 144 TPD-JPELOY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JPELOY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JPI08E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JPLV3G Kennedy disease 8B61.4 Orphanet 481 TPD-JPLV3G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JPLV3G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JPLV3G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JPPR8X Kennedy disease 8B61.4 Orphanet 481 TPD-JPPR8X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JPPR8X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JPPR8X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JPR16S Kennedy disease 8B61.4 Orphanet 481 TPD-JPR16S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JPR16S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JPR16S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JPRAFE Kennedy disease 8B61.4 Orphanet 481 TPD-JPRAFE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JPRAFE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JPRAFE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JPRRVS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JPRRVS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JPRRVS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JPRRVS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JPRVBL Noonan syndrome LD2F.15 Orphanet 648 TPD-JPRVBL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JPRVBL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JPRVBL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JPRVBL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JPRVBL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JPRVBL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JPRVBL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JPRVBL Craniopharyngioma 2F9A Orphanet 54595 TPD-JPRVBL Cushing disease 5A70.0 Orphanet 96253 TPD-JPSEIN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-JPU45T Noonan syndrome LD2F.15 Orphanet 648 TPD-JPU45T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JPU45T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JPU45T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JPU45T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JPU45T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JPU45T Lynch syndrome 2B90.Y Orphanet 144 TPD-JPU45T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JPU45T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JPUTGA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JPVT98 Noonan syndrome LD2F.15 Orphanet 648 TPD-JPVT98 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JPVT98 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JPVT98 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JPVT98 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JPVT98 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JPVT98 Lynch syndrome 2B90.Y Orphanet 144 TPD-JPVT98 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JPVT98 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JPWZG8 Noonan syndrome LD2F.15 Orphanet 648 TPD-JPWZG8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JPWZG8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JPWZG8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JPWZG8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JPWZG8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JPWZG8 Lynch syndrome 2B90.Y Orphanet 144 TPD-JPWZG8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JPWZG8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JQ6J58 Kennedy disease 8B61.4 Orphanet 481 TPD-JQ6J58 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JQ6J58 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JQ6J58 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JQACLQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JQD1T6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JQD1T6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JQD1T6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JQD1T6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JQD1T6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JQD1T6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JQD1T6 Semantic dementia 6D83 Orphanet 100069 TPD-JQD1T6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JQEWB8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JQEWB8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JQHLPQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JQKNX6 Noonan syndrome LD2F.15 Orphanet 648 TPD-JQKNX6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JQKNX6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JQKNX6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JQKNX6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JQKNX6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JQKNX6 Lynch syndrome 2B90.Y Orphanet 144 TPD-JQKNX6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JQKNX6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JQM0UG Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-JQM0UG Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-JQQ791 Kennedy disease 8B61.4 Orphanet 481 TPD-JQQ791 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JQQ791 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JQQ791 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JQU9M7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-JQWJTT Kennedy disease 8B61.4 Orphanet 481 TPD-JQWJTT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JQWJTT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JQWJTT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JQXGCW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JQXGCW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JQXGCW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JQZ5F6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JQZ5F6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JQZ5F6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JR0JMI Noonan syndrome LD2F.15 Orphanet 648 TPD-JR0JMI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JR0JMI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JR0JMI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JR0JMI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JR0JMI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JR0JMI Lynch syndrome 2B90.Y Orphanet 144 TPD-JR0JMI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JR0JMI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JR1PXI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JR1PXI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JR28GN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JR375V Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JR375V Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JR375V Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JR375V Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JR375V Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JR375V Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JR375V Semantic dementia 6D83 Orphanet 100069 TPD-JR375V Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JR4EE4 Kennedy disease 8B61.4 Orphanet 481 TPD-JR4EE4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JR4EE4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JR4EE4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JR4HCK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JR4HCK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JR4HCK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JR5VLP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JR5VLP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JR6OD0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JR6OD0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JR6OD0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JR6OD0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JR6OD0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JR6OD0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JR6OD0 Semantic dementia 6D83 Orphanet 100069 TPD-JR6OD0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JR8Q5F Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-JR8VEV Kennedy disease 8B61.4 Orphanet 481 TPD-JR8VEV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JR8VEV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JR8VEV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JRAM5I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JRAM5I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JRETGM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JRFH5Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JRGLHS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JRGLHS Wilson-Turner syndrome LD29 Orphanet 3459 TPD-JRGYTD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JRGYTD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JRGYTD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JRGYTD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JRK5TN Kennedy disease 8B61.4 Orphanet 481 TPD-JRK5TN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JRK5TN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JRK5TN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JRM0UV Kennedy disease 8B61.4 Orphanet 481 TPD-JRM0UV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JRM0UV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JRM0UV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JRM5LM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JRM5LM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JRM5LM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JRPV8B Familial melanoma QC61.Y Orphanet 618 TPD-JRPV8B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JRSTI6 Familial melanoma QC61.Y Orphanet 618 TPD-JRSTI6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JRUGTW Noonan syndrome LD2F.15 Orphanet 648 TPD-JRUGTW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JRUGTW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JRUGTW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JRUGTW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JRUGTW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JRUGTW Lynch syndrome 2B90.Y Orphanet 144 TPD-JRUGTW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JRUGTW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JRUH92 Kennedy disease 8B61.4 Orphanet 481 TPD-JRUH92 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JRUH92 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JRUH92 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JRVDGM Noonan syndrome LD2F.15 Orphanet 648 TPD-JRVDGM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JRVDGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JRVDGM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JRVDGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JRVDGM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JRVDGM Lynch syndrome 2B90.Y Orphanet 144 TPD-JRVDGM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JRVDGM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JRX8HA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JRX8HA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JRX8HA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JRZLL5 Kennedy disease 8B61.4 Orphanet 481 TPD-JRZLL5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JRZLL5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JRZLL5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JS5QK6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JS5QK6 Neuroblastoma 2A00.11 Orphanet 635 TPD-JS5QK6 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-JS5QK6 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-JS5QK6 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-JS5X4Z Familial melanoma QC61.Y Orphanet 618 TPD-JS5X4Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JS7B2T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JS7B2T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JS7B2T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JS80D8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JS9IN4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JS9IN4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-JSDQ58 Familial melanoma QC61.Y Orphanet 618 TPD-JSDQ58 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JSEIGS Noonan syndrome LD2F.15 Orphanet 648 TPD-JSEIGS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JSEIGS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JSEIGS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JSEIGS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JSEIGS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JSEIGS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JSEIGS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JSEIGS Craniopharyngioma 2F9A Orphanet 54595 TPD-JSEIGS Cushing disease 5A70.0 Orphanet 96253 TPD-JSH6B0 Noonan syndrome LD2F.15 Orphanet 648 TPD-JSH6B0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JSH6B0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JSH6B0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JSH6B0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JSH6B0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JSH6B0 Lynch syndrome 2B90.Y Orphanet 144 TPD-JSH6B0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JSH6B0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JSSCIS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JSSCIS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JSSCIS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JSSCIS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JSTV9R Noonan syndrome LD2F.15 Orphanet 648 TPD-JSTV9R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JSTV9R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JSTV9R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JSTV9R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JSTV9R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JSTV9R Lynch syndrome 2B90.Y Orphanet 144 TPD-JSTV9R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JSTV9R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JSU327 Kennedy disease 8B61.4 Orphanet 481 TPD-JSU327 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JSU327 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JSU327 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JSZD33 Noonan syndrome LD2F.15 Orphanet 648 TPD-JSZD33 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JSZD33 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JSZD33 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JSZD33 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JSZD33 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JSZD33 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JSZD33 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JSZD33 Craniopharyngioma 2F9A Orphanet 54595 TPD-JSZD33 Cushing disease 5A70.0 Orphanet 96253 TPD-JT0307 Familial melanoma QC61.Y Orphanet 618 TPD-JT0307 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JT2EC5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JT3A97 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JT3A97 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JT3A97 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JT3A97 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JT49NN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JT6U0Q Kennedy disease 8B61.4 Orphanet 481 TPD-JT6U0Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JT6U0Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JT6U0Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JT72JO Noonan syndrome LD2F.15 Orphanet 648 TPD-JT72JO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JT72JO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JT72JO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JT72JO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JT72JO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JT72JO Lynch syndrome 2B90.Y Orphanet 144 TPD-JT72JO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JT72JO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JT8R5E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JT9TT0 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-JT9TT0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JT9TT0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JTCE60 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-JTCE60 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-JTCE60 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-JTCE60 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-JTCE60 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-JTCE60 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-JTCE60 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JTCE60 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-JTCE60 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JTCQWY Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-JTCQWY X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-JTDJFM Kennedy disease 8B61.4 Orphanet 481 TPD-JTDJFM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JTDJFM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JTDJFM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JTHEA3 Noonan syndrome LD2F.15 Orphanet 648 TPD-JTHEA3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JTHEA3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JTHEA3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JTHEA3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JTHEA3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JTHEA3 Lynch syndrome 2B90.Y Orphanet 144 TPD-JTHEA3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JTHEA3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JTOBZH Familial melanoma QC61.Y Orphanet 618 TPD-JTOIYR Kennedy disease 8B61.4 Orphanet 481 TPD-JTOIYR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JTOIYR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JTOIYR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JTPEUH Noonan syndrome LD2F.15 Orphanet 648 TPD-JTPEUH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JTPEUH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JTPEUH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JTPEUH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JTPEUH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JTPEUH Lynch syndrome 2B90.Y Orphanet 144 TPD-JTPEUH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JTPEUH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JTPGCG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JTY3KL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JTY3KL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JU5T9X Kennedy disease 8B61.4 Orphanet 481 TPD-JU5T9X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JU5T9X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JU5T9X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JU8J0J Kennedy disease 8B61.4 Orphanet 481 TPD-JU8J0J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JU8J0J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JU8J0J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JU9KGQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JUEEAE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JUEEAE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JUHN35 Kennedy disease 8B61.4 Orphanet 481 TPD-JUHN35 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JUHN35 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JUHN35 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JUJZVW Noonan syndrome LD2F.15 Orphanet 648 TPD-JUJZVW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JUJZVW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JUJZVW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JUJZVW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JUJZVW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JUJZVW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JUJZVW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JUJZVW Craniopharyngioma 2F9A Orphanet 54595 TPD-JUJZVW Cushing disease 5A70.0 Orphanet 96253 TPD-JUQN8G Kennedy disease 8B61.4 Orphanet 481 TPD-JUQN8G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JUQN8G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JUQN8G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JUXS5G Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-JUY1MS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JUYVQ5 Kennedy disease 8B61.4 Orphanet 481 TPD-JUYVQ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JUYVQ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JUYVQ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JV1ITV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JV1ITV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JV1ITV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JV1ITV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JV1VCA Kennedy disease 8B61.4 Orphanet 481 TPD-JV1VCA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JV1VCA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JV1VCA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JV2ZBR Noonan syndrome LD2F.15 Orphanet 648 TPD-JV2ZBR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JV2ZBR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JV2ZBR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JV2ZBR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JV2ZBR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JV2ZBR Lynch syndrome 2B90.Y Orphanet 144 TPD-JV2ZBR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JV2ZBR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JV7M9F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JV7M9F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JV7M9F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JV8VFB Kennedy disease 8B61.4 Orphanet 481 TPD-JV8VFB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JV8VFB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JV8VFB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JVASDN Familial melanoma QC61.Y Orphanet 618 TPD-JVASDN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JVG0AA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JVG0AA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JVG0AA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JVG0AA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JVMRK9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JVMRK9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JVMRK9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JVN64J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JVN64J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JVN64J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JVO9SK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JVO9SK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JVO9SK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JVS0YM Kennedy disease 8B61.4 Orphanet 481 TPD-JVS0YM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JVS0YM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JVS0YM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JVVDCQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JVVDCQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JVXMXE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JVXMXE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JVXMXE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JVXONA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JVXONA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JVZAYY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JVZAYY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JVZAYY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JVZDK3 Kennedy disease 8B61.4 Orphanet 481 TPD-JVZDK3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JVZDK3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JVZDK3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JW7NQR Kennedy disease 8B61.4 Orphanet 481 TPD-JW7NQR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JW7NQR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JW7NQR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JWA8MD Noonan syndrome LD2F.15 Orphanet 648 TPD-JWA8MD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JWA8MD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JWA8MD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JWA8MD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JWA8MD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JWA8MD Lynch syndrome 2B90.Y Orphanet 144 TPD-JWA8MD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JWA8MD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JWALEN Noonan syndrome LD2F.15 Orphanet 648 TPD-JWALEN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JWALEN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JWALEN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JWALEN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JWALEN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JWALEN Lynch syndrome 2B90.Y Orphanet 144 TPD-JWALEN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JWALEN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JWB56I Noonan syndrome LD2F.15 Orphanet 648 TPD-JWB56I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JWB56I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JWB56I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JWB56I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JWB56I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JWB56I Lynch syndrome 2B90.Y Orphanet 144 TPD-JWB56I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JWB56I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JWCB85 Kennedy disease 8B61.4 Orphanet 481 TPD-JWCB85 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JWCB85 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JWCB85 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JWCKCZ Familial melanoma QC61.Y Orphanet 618 TPD-JWI5PV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JWI5PV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JWIZSF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JWIZSF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JWJE4Q Kennedy disease 8B61.4 Orphanet 481 TPD-JWJE4Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JWJE4Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JWJE4Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JWJQZA Noonan syndrome LD2F.15 Orphanet 648 TPD-JWJQZA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JWJQZA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JWJQZA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JWJQZA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JWJQZA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JWJQZA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JWJQZA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JWJQZA Craniopharyngioma 2F9A Orphanet 54595 TPD-JWJQZA Cushing disease 5A70.0 Orphanet 96253 TPD-JWMI8C Noonan syndrome LD2F.15 Orphanet 648 TPD-JWMI8C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JWMI8C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JWMI8C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JWMI8C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JWMI8C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JWMI8C Lynch syndrome 2B90.Y Orphanet 144 TPD-JWMI8C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JWMI8C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JWPNPF Kennedy disease 8B61.4 Orphanet 481 TPD-JWPNPF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JWPNPF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JWPNPF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JWQOI4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JWQOI4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JWQOI4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JWQOI4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JWTVQE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JWTVQE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JWTVQE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JWTY5Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JWWLPJ Kennedy disease 8B61.4 Orphanet 481 TPD-JWWLPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JWWLPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JWWLPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JWXHL5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JWXHL5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JWXYZN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JWXYZN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JWXYZN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JWYYPI Kennedy disease 8B61.4 Orphanet 481 TPD-JWYYPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JWYYPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JWYYPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JX171I Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-JX171I Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-JX171I Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-JX5WDT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JX6O74 Familial melanoma QC61.Y Orphanet 618 TPD-JX6O74 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JX74IF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JX74IF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JX74IF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JX74IF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JX7FW5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-JX7FW5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-JX7FW5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-JX7FW5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-JX7FW5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-JX7FW5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-JX7FW5 Semantic dementia 6D83 Orphanet 100069 TPD-JX7FW5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-JX8HBR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JXA9I4 Familial melanoma QC61.Y Orphanet 618 TPD-JXA9I4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-JXAHU5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JXAHU5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JXAHU5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JXAHU5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JXB1RS Kennedy disease 8B61.4 Orphanet 481 TPD-JXB1RS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXB1RS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXB1RS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXBBII Kennedy disease 8B61.4 Orphanet 481 TPD-JXBBII Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXBBII Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXBBII Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXBD7D Kennedy disease 8B61.4 Orphanet 481 TPD-JXBD7D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXBD7D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXBD7D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXBRLX Kennedy disease 8B61.4 Orphanet 481 TPD-JXBRLX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXBRLX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXBRLX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXGVXG Kennedy disease 8B61.4 Orphanet 481 TPD-JXGVXG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXGVXG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXGVXG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXLJFG Kennedy disease 8B61.4 Orphanet 481 TPD-JXLJFG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXLJFG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXLJFG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXMN28 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-JXMSHZ Kennedy disease 8B61.4 Orphanet 481 TPD-JXMSHZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXMSHZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXMSHZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXNIZF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JXNIZF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JXNIZF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JXPRTM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JXRJJB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JXRJJB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JXRJJB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JXRJJB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JXRRIS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JXRRIS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JXV8ND Noonan syndrome LD2F.15 Orphanet 648 TPD-JXV8ND Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JXV8ND Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JXV8ND Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JXV8ND Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JXV8ND Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JXV8ND Lynch syndrome 2B90.Y Orphanet 144 TPD-JXV8ND Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JXV8ND Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JXVCCZ Kennedy disease 8B61.4 Orphanet 481 TPD-JXVCCZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXVCCZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXVCCZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXZ5C0 Kennedy disease 8B61.4 Orphanet 481 TPD-JXZ5C0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JXZ5C0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JXZ5C0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JXZLW9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JXZLW9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JY0YLD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-JYBCBW Kennedy disease 8B61.4 Orphanet 481 TPD-JYBCBW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JYBCBW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JYBCBW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JYGYAV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JYGYAV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JYGYAV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JYI7MD Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-JYI7MD Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-JYI7MD Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-JYI7MD Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-JYI7MD Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-JYI7MD Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-JYI7MD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JYI7MD Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-JYI7MD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-JYLNNB Noonan syndrome LD2F.15 Orphanet 648 TPD-JYLNNB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JYLNNB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JYLNNB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JYLNNB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JYLNNB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JYLNNB Lynch syndrome 2B90.Y Orphanet 144 TPD-JYLNNB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JYLNNB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JYLOI3 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-JYOUJS Noonan syndrome LD2F.15 Orphanet 648 TPD-JYOUJS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JYOUJS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JYOUJS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JYOUJS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JYOUJS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JYOUJS Lynch syndrome 2B90.Y Orphanet 144 TPD-JYOUJS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JYOUJS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JYQYBU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-JYQYBU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-JYQYBU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-JYVNYE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-JYZFU4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-JZ17EV Noonan syndrome LD2F.15 Orphanet 648 TPD-JZ17EV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JZ17EV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JZ17EV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JZ17EV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JZ17EV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JZ17EV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JZ17EV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JZ17EV Craniopharyngioma 2F9A Orphanet 54595 TPD-JZ17EV Cushing disease 5A70.0 Orphanet 96253 TPD-JZ1CDY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-JZ7NIL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-JZ7NIL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-JZ7NIL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-JZ96R6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JZ96R6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JZ96R6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JZ96R6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JZ9ZZ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-JZ9ZZ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-JZ9ZZ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JZ9ZZ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-JZ9ZZ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JZ9ZZ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-JZ9ZZ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-JZ9ZZ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-JZ9ZZ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JZB0NZ Noonan syndrome LD2F.15 Orphanet 648 TPD-JZB0NZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-JZIT3E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-JZIT3E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-JZJ7S7 Kennedy disease 8B61.4 Orphanet 481 TPD-JZJ7S7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JZJ7S7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JZJ7S7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JZO4QN Noonan syndrome LD2F.15 Orphanet 648 TPD-JZO4QN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-JZO4QN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-JZO4QN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-JZO4QN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-JZO4QN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-JZO4QN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-JZO4QN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-JZO4QN Craniopharyngioma 2F9A Orphanet 54595 TPD-JZO4QN Cushing disease 5A70.0 Orphanet 96253 TPD-JZO4QN Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-JZTR1Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-JZTR1Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-JZTR1Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-JZTR1Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-JZVPJ4 Kennedy disease 8B61.4 Orphanet 481 TPD-JZVPJ4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-JZVPJ4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-JZVPJ4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-JZYZDM Weaver syndrome LD2C Orphanet 3447 TPD-JZZUWZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-K03Z89 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K03Z89 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K04O2S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K04O2S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-K04XE7 Kennedy disease 8B61.4 Orphanet 481 TPD-K04XE7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K04XE7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K04XE7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K05KRB Kennedy disease 8B61.4 Orphanet 481 TPD-K05KRB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K05KRB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K05KRB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K0BHEK Kennedy disease 8B61.4 Orphanet 481 TPD-K0BHEK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K0BHEK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K0BHEK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K0HDJ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-K0HDJ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K0HDJ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K0HDJ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K0HDJ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K0HDJ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K0HDJ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-K0HDJ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K0HDJ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K0HFY5 Kennedy disease 8B61.4 Orphanet 481 TPD-K0HFY5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K0HFY5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K0HFY5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K0K3AH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-K0K3AH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-K0K3AH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-K0K3AH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-K0K3AH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-K0K3AH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-K0K3AH Semantic dementia 6D83 Orphanet 100069 TPD-K0K3AH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-K0LAG9 Kennedy disease 8B61.4 Orphanet 481 TPD-K0LAG9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K0LAG9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K0LAG9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K0MSWX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-K0O9JP Kennedy disease 8B61.4 Orphanet 481 TPD-K0O9JP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K0O9JP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K0O9JP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K0S7QV Familial melanoma QC61.Y Orphanet 618 TPD-K0S7QV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K0TLE9 Noonan syndrome LD2F.15 Orphanet 648 TPD-K0TLE9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-K0TLE9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-K0TLE9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K0TLE9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K0TLE9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-K0TLE9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-K0TLE9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-K0TLE9 Craniopharyngioma 2F9A Orphanet 54595 TPD-K0TLE9 Cushing disease 5A70.0 Orphanet 96253 TPD-K0VRZE Noonan syndrome LD2F.15 Orphanet 648 TPD-K0VRZE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K0VRZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K0VRZE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K0VRZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K0VRZE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K0VRZE Lynch syndrome 2B90.Y Orphanet 144 TPD-K0VRZE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K0VRZE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K0W2V7 Familial melanoma QC61.Y Orphanet 618 TPD-K0W2V7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K0YOI4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K0YOI4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K0Z0KJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K0Z0KJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K14DRE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-K14DRE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-K14DRE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-K155N9 Kennedy disease 8B61.4 Orphanet 481 TPD-K155N9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K155N9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K155N9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K177RH Noonan syndrome LD2F.15 Orphanet 648 TPD-K177RH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K177RH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K177RH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K177RH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K177RH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K177RH Lynch syndrome 2B90.Y Orphanet 144 TPD-K177RH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K177RH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K18M3V Kennedy disease 8B61.4 Orphanet 481 TPD-K18M3V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K18M3V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K18M3V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K1A9QF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-K1A9QF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-K1A9QF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-K1AW2K Noonan syndrome LD2F.15 Orphanet 648 TPD-K1AW2K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K1AW2K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K1AW2K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K1AW2K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K1AW2K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K1AW2K Lynch syndrome 2B90.Y Orphanet 144 TPD-K1AW2K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K1AW2K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K1DI8U Kennedy disease 8B61.4 Orphanet 481 TPD-K1DI8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K1DI8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K1DI8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K1FGRR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K1FGRR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K1FGRR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K1FT9B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K1FT9B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K1GSHD Burkitt lymphoma XH4KA9 Orphanet 543 TPD-K1GSHD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-K1HBAK Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-K1HBAK Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-K1HHXQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K1HHXQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-K1K20K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K1K20K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K1K20K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K1KFGM Noonan syndrome LD2F.15 Orphanet 648 TPD-K1KFGM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-K1MDQ0 Weaver syndrome LD2C Orphanet 3447 TPD-K1OE90 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K1OE90 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K1OE90 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K1S1J7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K1S1J7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K1S1J7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K1S1J7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K1WMAH Kennedy disease 8B61.4 Orphanet 481 TPD-K1WMAH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K1WMAH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K1WMAH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K1YMW6 Noonan syndrome LD2F.15 Orphanet 648 TPD-K1YMW6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K1YMW6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K1YMW6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K1YMW6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K1YMW6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K1YMW6 Lynch syndrome 2B90.Y Orphanet 144 TPD-K1YMW6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K1YMW6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K204FS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K23DSO Noonan syndrome LD2F.15 Orphanet 648 TPD-K23DSO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K23DSO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K23DSO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K23DSO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K23DSO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K23DSO Lynch syndrome 2B90.Y Orphanet 144 TPD-K23DSO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K23DSO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K26VAB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K26XAK Kennedy disease 8B61.4 Orphanet 481 TPD-K26XAK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K26XAK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K26XAK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K29VP9 Noonan syndrome LD2F.15 Orphanet 648 TPD-K29VP9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K29VP9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K29VP9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K29VP9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K29VP9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K29VP9 Lynch syndrome 2B90.Y Orphanet 144 TPD-K29VP9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K29VP9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K2A11O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K2A11O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K2A11O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K2A11O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K2A4NX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K2ASHO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K2ASHO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K2ASHO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K2BYJQ Kennedy disease 8B61.4 Orphanet 481 TPD-K2BYJQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K2BYJQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K2BYJQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K2DJ6G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K2DJ6G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K2GEBV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K2NYGM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K2RRT1 Kennedy disease 8B61.4 Orphanet 481 TPD-K2RRT1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K2RRT1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K2RRT1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K2S1KQ Familial melanoma QC61.Y Orphanet 618 TPD-K2S1KQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K2SMFE Kennedy disease 8B61.4 Orphanet 481 TPD-K2SMFE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K2SMFE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K2SMFE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K333VU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K333VU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K333VU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K33UIL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K3509N Kennedy disease 8B61.4 Orphanet 481 TPD-K3509N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K3509N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K3509N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K35BZ9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-K3FTN8 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-K3FTN8 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-K3FTN8 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-K3IYGI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K3JUPE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K3UIXG Kennedy disease 8B61.4 Orphanet 481 TPD-K3UIXG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K3UIXG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K3UIXG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K3XS9M Kennedy disease 8B61.4 Orphanet 481 TPD-K3XS9M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K3XS9M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K3XS9M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K3YYOB Kennedy disease 8B61.4 Orphanet 481 TPD-K3YYOB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K3YYOB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K3YYOB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K405WJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K405WJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K405WJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K405WJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K41QEH Noonan syndrome LD2F.15 Orphanet 648 TPD-K41QEH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-K426OK Noonan syndrome LD2F.15 Orphanet 648 TPD-K426OK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K426OK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K426OK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K426OK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K426OK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K426OK Lynch syndrome 2B90.Y Orphanet 144 TPD-K426OK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K426OK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K44NNT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K47317 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-K49KSN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K4FYET Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K4L81X Kennedy disease 8B61.4 Orphanet 481 TPD-K4L81X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K4L81X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K4L81X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K4M5EW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K4M5EW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K4M5EW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K4MMN3 Kennedy disease 8B61.4 Orphanet 481 TPD-K4MMN3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K4MMN3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K4MMN3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K4MX0M Kennedy disease 8B61.4 Orphanet 481 TPD-K4MX0M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K4MX0M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K4MX0M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K4N2GI Noonan syndrome LD2F.15 Orphanet 648 TPD-K4N2GI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K4N2GI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K4N2GI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K4N2GI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K4N2GI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K4N2GI Lynch syndrome 2B90.Y Orphanet 144 TPD-K4N2GI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K4N2GI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K4NNYX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K4WPVT Kennedy disease 8B61.4 Orphanet 481 TPD-K4WPVT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K4WPVT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K4WPVT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K4WQZW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-K4WQZW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-K4WQZW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-K4Y01K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K4Y01K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-K4ZUQA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K4ZUQA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K4ZUQA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K500UX Noonan syndrome LD2F.15 Orphanet 648 TPD-K500UX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K500UX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K500UX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K500UX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K500UX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K500UX Lynch syndrome 2B90.Y Orphanet 144 TPD-K500UX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K500UX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K56440 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K56440 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K56440 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K56440 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K56VML Noonan syndrome LD2F.15 Orphanet 648 TPD-K56VML Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K56VML Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K56VML Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K56VML Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K56VML Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K56VML Lynch syndrome 2B90.Y Orphanet 144 TPD-K56VML Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K56VML Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K59VT2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K5AFTO Kennedy disease 8B61.4 Orphanet 481 TPD-K5AFTO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K5AFTO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K5AFTO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K5EAAB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K5EAAB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K5EAAB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K5EAAB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K5HKLS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-K5HKLS Wilson-Turner syndrome LD29 Orphanet 3459 TPD-K5K924 Familial melanoma QC61.Y Orphanet 618 TPD-K5LK8T Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K5NCI9 Familial melanoma QC61.Y Orphanet 618 TPD-K5NCI9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K5ORG7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K5PS83 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K5SZTK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K5SZTK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K5SZTK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K5X2WT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K5X2WT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-K5XZQ4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K5Y3NP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-K5Y3NP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-K5Y3NP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-K5Y3NP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-K5Y3NP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-K5Y3NP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-K5Y3NP Semantic dementia 6D83 Orphanet 100069 TPD-K5Y3NP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-K61E4B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K66J7Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K66J7Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K66J7Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K66W06 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-K678IX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K678IX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K678IX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K678IX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K6A2SP Noonan syndrome LD2F.15 Orphanet 648 TPD-K6A2SP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-K6A2SP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-K6A2SP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K6A2SP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K6A2SP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-K6A2SP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-K6A2SP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-K6A2SP Craniopharyngioma 2F9A Orphanet 54595 TPD-K6A2SP Cushing disease 5A70.0 Orphanet 96253 TPD-K6J1AT Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-K6J1AT Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-K6K0QR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K6LV43 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K6PJI5 Kennedy disease 8B61.4 Orphanet 481 TPD-K6PJI5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K6PJI5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K6PJI5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K6TTCF Kennedy disease 8B61.4 Orphanet 481 TPD-K6TTCF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K6TTCF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K6TTCF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K6UBU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-K6UBU9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-K6UBU9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-K6UBU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K6UBU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K6UBU9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-K6UBU9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-K6UBU9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-K6UBU9 Craniopharyngioma 2F9A Orphanet 54595 TPD-K6UBU9 Cushing disease 5A70.0 Orphanet 96253 TPD-K6UZK1 Kennedy disease 8B61.4 Orphanet 481 TPD-K6UZK1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K6UZK1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K6UZK1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K6VL61 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K6VL61 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K6VVC7 Noonan syndrome LD2F.15 Orphanet 648 TPD-K6VVC7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K6VVC7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K6VVC7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K6VVC7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K6VVC7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K6VVC7 Lynch syndrome 2B90.Y Orphanet 144 TPD-K6VVC7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K6VVC7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K6YYSC Kennedy disease 8B61.4 Orphanet 481 TPD-K6YYSC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K6YYSC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K6YYSC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K7152M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K7152M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K7152M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K7152M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K75US1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K75US1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K77GL2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-K780NP Weaver syndrome LD2C Orphanet 3447 TPD-K78P88 Kennedy disease 8B61.4 Orphanet 481 TPD-K78P88 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K78P88 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K78P88 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K7AXTH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K7B65B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K7B65B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K7B65B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K7B65B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K7C6G5 Familial melanoma QC61.Y Orphanet 618 TPD-K7C6G5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K7CQ03 Noonan syndrome LD2F.15 Orphanet 648 TPD-K7CQ03 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K7CQ03 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K7CQ03 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K7CQ03 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K7CQ03 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K7CQ03 Lynch syndrome 2B90.Y Orphanet 144 TPD-K7CQ03 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K7CQ03 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K7DTX6 Noonan syndrome LD2F.15 Orphanet 648 TPD-K7DTX6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K7DTX6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K7DTX6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K7DTX6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K7DTX6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K7DTX6 Lynch syndrome 2B90.Y Orphanet 144 TPD-K7DTX6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K7DTX6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K7EEXM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-K7F3BH Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-K7F3BH CINCA syndrome 4A60.1 Orphanet 1451 TPD-K7F3BH Familial cold urticaria 4A60.1 Orphanet 47045 TPD-K7JF4K Noonan syndrome LD2F.15 Orphanet 648 TPD-K7JF4K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K7JF4K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K7JF4K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K7JF4K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K7JF4K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K7JF4K Lynch syndrome 2B90.Y Orphanet 144 TPD-K7JF4K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K7JF4K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K7N9FF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K7N9FF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-K7NHEO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K7NHEO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K7OHH2 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-K7OHH2 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-K7OHH2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-K7OHH2 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-K7OHH2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-K7OHH2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-K7OHH2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-K7OHH2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-K7OHH2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-K7OHH2 Semantic dementia 6D83 Orphanet 100069 TPD-K7OHH2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-K7POKU Kennedy disease 8B61.4 Orphanet 481 TPD-K7POKU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K7POKU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K7POKU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K7QK5O Familial melanoma QC61.Y Orphanet 618 TPD-K7QK5O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K7SFGO Kennedy disease 8B61.4 Orphanet 481 TPD-K7SFGO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K7SFGO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K7SFGO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K7VL57 Familial melanoma QC61.Y Orphanet 618 TPD-K7VL57 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K7VL87 Kennedy disease 8B61.4 Orphanet 481 TPD-K7VL87 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K7VL87 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K7VL87 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K7XY0E Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-K83UI7 Noonan syndrome LD2F.15 Orphanet 648 TPD-K83UI7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K83UI7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K83UI7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K83UI7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K83UI7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K83UI7 Lynch syndrome 2B90.Y Orphanet 144 TPD-K83UI7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K83UI7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K8645R Noonan syndrome LD2F.15 Orphanet 648 TPD-K8645R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K8645R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K8645R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K8645R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K8645R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K8645R Lynch syndrome 2B90.Y Orphanet 144 TPD-K8645R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K8645R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K87CRL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K87CRL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K87CRL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K88D69 Familial melanoma QC61.Y Orphanet 618 TPD-K88D69 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K88OED Noonan syndrome LD2F.15 Orphanet 648 TPD-K88OED Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K88OED Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K88OED Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K88OED Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K88OED Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K88OED Lynch syndrome 2B90.Y Orphanet 144 TPD-K88OED Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K88OED Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K8984V Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-K89O95 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K89O95 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K89XHT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K89XHT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K89XHT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K89XHT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K8A2DW Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-K8CGLH Noonan syndrome LD2F.15 Orphanet 648 TPD-K8CGLH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K8CGLH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K8CGLH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K8CGLH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K8CGLH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K8CGLH Lynch syndrome 2B90.Y Orphanet 144 TPD-K8CGLH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K8CGLH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K8CK3A Generalized glucocorticoid resistance syndrome 5A71.00 Orphanet 786 TPD-K8CK3A Cushing disease 5A70.0 Orphanet 96253 TPD-K8CYP6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K8CYP6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K8D0AP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K8H6HP Noonan syndrome LD2F.15 Orphanet 648 TPD-K8H6HP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K8H6HP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K8H6HP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K8H6HP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K8H6HP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K8H6HP Lynch syndrome 2B90.Y Orphanet 144 TPD-K8H6HP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K8H6HP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K8LHH1 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-K8LHH1 MODY 5A13.6 Orphanet 552 TPD-K8LHH1 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-K8LHH1 Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-K8LHH1 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-K8OU97 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K8Q1N5 Kennedy disease 8B61.4 Orphanet 481 TPD-K8Q1N5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K8Q1N5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K8Q1N5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K8QNT9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K8QNT9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K8RD9D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K8RD9D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K8RD9D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K8RD9D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K8WS9E Noonan syndrome LD2F.15 Orphanet 648 TPD-K8WS9E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K8WS9E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K8WS9E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K8WS9E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K8WS9E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K8WS9E Lynch syndrome 2B90.Y Orphanet 144 TPD-K8WS9E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K8WS9E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K8XRT7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K8XRT7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K901MN Noonan syndrome LD2F.15 Orphanet 648 TPD-K901MN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-K901MN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-K901MN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K901MN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K901MN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-K901MN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-K901MN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-K901MN Craniopharyngioma 2F9A Orphanet 54595 TPD-K901MN Cushing disease 5A70.0 Orphanet 96253 TPD-K90EP6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-K90EP6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-K90EP6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-K90FYA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K90FYA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K90FYA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K97FCO Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-K990H2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-K99G9L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K99G9L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K99G9L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K99G9L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K9AQIL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-K9AQIL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-K9AQIL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-K9AUO8 Kennedy disease 8B61.4 Orphanet 481 TPD-K9AUO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9AUO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9AUO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9EOB0 Familial melanoma QC61.Y Orphanet 618 TPD-K9EOB0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K9EZC5 Familial melanoma QC61.Y Orphanet 618 TPD-K9EZC5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K9IM5Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-K9IM5Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-K9JKII Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-K9JKII B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K9JKII Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-K9JKII Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-K9JKII MODY 5A13.6 Orphanet 552 TPD-K9JKII Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-K9JKII Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-K9JKII Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-K9JKII Frontometaphyseal dysplasia LD25.1 Orphanet 1826 TPD-K9JKII Cardiospondylocarpofacial syndrome LD2H.Y Orphanet 3238 TPD-K9JKII Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-K9NGQM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K9O0IY Noonan syndrome LD2F.15 Orphanet 648 TPD-K9O0IY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K9O0IY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K9O0IY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K9O0IY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K9O0IY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K9O0IY Lynch syndrome 2B90.Y Orphanet 144 TPD-K9O0IY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K9O0IY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-K9O1ZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-K9O1ZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-K9O1ZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-K9O1ZR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-K9OR6N Kennedy disease 8B61.4 Orphanet 481 TPD-K9OR6N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9OR6N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9OR6N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9OYWM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-K9PAKE Kennedy disease 8B61.4 Orphanet 481 TPD-K9PAKE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9PAKE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9PAKE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9QICT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-K9REUY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-K9SGBX Kennedy disease 8B61.4 Orphanet 481 TPD-K9SGBX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9SGBX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9SGBX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9SO30 Kennedy disease 8B61.4 Orphanet 481 TPD-K9SO30 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9SO30 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9SO30 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9V8O0 Kennedy disease 8B61.4 Orphanet 481 TPD-K9V8O0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-K9V8O0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-K9V8O0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-K9VO1N Noonan syndrome LD2F.15 Orphanet 648 TPD-K9VO1N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-K9VO1N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-K9VO1N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-K9VO1N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-K9VO1N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-K9VO1N Lynch syndrome 2B90.Y Orphanet 144 TPD-K9VO1N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-K9VO1N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KA149G Kennedy disease 8B61.4 Orphanet 481 TPD-KA149G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KA149G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KA149G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KA1VO2 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-KA1VO2 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-KA1VO2 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-KA36BU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KA5J0V Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KA5J0V Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KA63AE Familial melanoma QC61.Y Orphanet 618 TPD-KA63AE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KA8VUU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KA8VUU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KAA8BI Kennedy disease 8B61.4 Orphanet 481 TPD-KAA8BI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KAA8BI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KAA8BI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KAB9KM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KAB9KM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KAB9KM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KAC7WN Familial melanoma QC61.Y Orphanet 618 TPD-KAC7WN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KACMP0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KACMP0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KACMP0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KACMP0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KACMP0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KACMP0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KACMP0 Semantic dementia 6D83 Orphanet 100069 TPD-KACMP0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KAH2E8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KAO5RF Kennedy disease 8B61.4 Orphanet 481 TPD-KAO5RF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KAO5RF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KAO5RF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KAWSGW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KAWSGW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KB0FO1 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-KB1LZH Kennedy disease 8B61.4 Orphanet 481 TPD-KB1LZH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KB1LZH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KB1LZH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KB4LK9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KB4LK9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KB4LK9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KB4LK9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KB4LK9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KB4LK9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KB4LK9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KB4LK9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KB4LK9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KBBN2J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KBBN2J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KBBN2J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KBBN2J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KBCI39 Noonan syndrome LD2F.15 Orphanet 648 TPD-KBCI39 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KBCI39 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KBCI39 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KBCI39 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KBCI39 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KBCI39 Lynch syndrome 2B90.Y Orphanet 144 TPD-KBCI39 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KBCI39 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KBDLQM Kennedy disease 8B61.4 Orphanet 481 TPD-KBDLQM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KBDLQM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KBDLQM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KBFFJQ Kennedy disease 8B61.4 Orphanet 481 TPD-KBFFJQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KBFFJQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KBFFJQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KBGBXJ Kennedy disease 8B61.4 Orphanet 481 TPD-KBGBXJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KBGBXJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KBGBXJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KBJBT3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KBJBT3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KBKIDN Kennedy disease 8B61.4 Orphanet 481 TPD-KBKIDN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KBKIDN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KBKIDN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KBL6L9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KBL6L9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KBMGZ0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KBMGZ0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KBMGZ0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KBMGZ0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KBPHEO Noonan syndrome LD2F.15 Orphanet 648 TPD-KBPHEO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KBPHEO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KBPHEO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KBPHEO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KBPHEO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KBPHEO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KBPHEO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KBPHEO Craniopharyngioma 2F9A Orphanet 54595 TPD-KBPHEO Cushing disease 5A70.0 Orphanet 96253 TPD-KBUTJA Noonan syndrome LD2F.15 Orphanet 648 TPD-KBUTJA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KBUTJA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KBUTJA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KBUTJA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KBUTJA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KBUTJA Lynch syndrome 2B90.Y Orphanet 144 TPD-KBUTJA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KBUTJA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KBUZPI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KBUZPI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KBVEZ3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KBVUYL Noonan syndrome LD2F.15 Orphanet 648 TPD-KBVUYL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KBVUYL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KBVUYL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KBVUYL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KBVUYL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KBVUYL Lynch syndrome 2B90.Y Orphanet 144 TPD-KBVUYL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KBVUYL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KBW29Q Kennedy disease 8B61.4 Orphanet 481 TPD-KBW29Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KBW29Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KBW29Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KBWHE8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KBWHE8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KBWHE8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KBWJ0S Noonan syndrome LD2F.15 Orphanet 648 TPD-KBWJ0S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KBWJ0S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KBWJ0S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KBWJ0S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KBWJ0S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KBWJ0S Lynch syndrome 2B90.Y Orphanet 144 TPD-KBWJ0S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KBWJ0S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KC1F5Q Kennedy disease 8B61.4 Orphanet 481 TPD-KC1F5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KC1F5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KC1F5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KC27HA Noonan syndrome LD2F.15 Orphanet 648 TPD-KC27HA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KC27HA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KC27HA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KC27HA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KC27HA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KC27HA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KC27HA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KC27HA Craniopharyngioma 2F9A Orphanet 54595 TPD-KC27HA Cushing disease 5A70.0 Orphanet 96253 TPD-KC2FN6 Noonan syndrome LD2F.15 Orphanet 648 TPD-KC2FN6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-KC2U7X Noonan syndrome LD2F.15 Orphanet 648 TPD-KC2U7X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KC2U7X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KC2U7X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KC2U7X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KC2U7X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KC2U7X Lynch syndrome 2B90.Y Orphanet 144 TPD-KC2U7X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KC2U7X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KC3QKY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KC3QKY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KC44N5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KC44N5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KC44N5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KC7UKP Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-KC7UKP Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-KC9832 Kennedy disease 8B61.4 Orphanet 481 TPD-KC9832 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KC9832 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KC9832 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KCBW9K Familial melanoma QC61.Y Orphanet 618 TPD-KCBW9K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KCCVO1 Kennedy disease 8B61.4 Orphanet 481 TPD-KCCVO1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KCCVO1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KCCVO1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KCE8P2 Familial melanoma QC61.Y Orphanet 618 TPD-KCE8P2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KCEB21 Noonan syndrome LD2F.15 Orphanet 648 TPD-KCEB21 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KCEB21 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KCEB21 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KCEB21 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KCEB21 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KCEB21 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KCEB21 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KCEB21 Craniopharyngioma 2F9A Orphanet 54595 TPD-KCEB21 Cushing disease 5A70.0 Orphanet 96253 TPD-KCET3P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KCET3P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KCET3P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KCJFA3 Noonan syndrome LD2F.15 Orphanet 648 TPD-KCJFA3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KCJFA3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KCJFA3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KCJFA3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KCJFA3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KCJFA3 Lynch syndrome 2B90.Y Orphanet 144 TPD-KCJFA3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KCJFA3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KCOG3N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KCOG3N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KCOTTJ Familial melanoma QC61.Y Orphanet 618 TPD-KCOTTJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KCPT9R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KCPT9R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KCPT9R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KCPT9R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KCR37K Kennedy disease 8B61.4 Orphanet 481 TPD-KCR37K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KCR37K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KCR37K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KCTSGF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KCU2O4 Kennedy disease 8B61.4 Orphanet 481 TPD-KCU2O4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KCU2O4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KCU2O4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KCYCGN Weaver syndrome LD2C Orphanet 3447 TPD-KD0BQN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KD0BQN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KD0BQN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KD0BQN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KD0BQN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KD0BQN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KD0BQN Semantic dementia 6D83 Orphanet 100069 TPD-KD0BQN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KD3DT4 Noonan syndrome LD2F.15 Orphanet 648 TPD-KD3DT4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KD3DT4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KD3DT4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KD3DT4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KD3DT4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KD3DT4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KD3DT4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KD3DT4 Craniopharyngioma 2F9A Orphanet 54595 TPD-KD3DT4 Cushing disease 5A70.0 Orphanet 96253 TPD-KD3I8V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KD5K8X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KD6OL4 Kennedy disease 8B61.4 Orphanet 481 TPD-KD6OL4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KD6OL4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KD6OL4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KD7D1J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KD7D1J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KD7D1J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KDCM38 Kennedy disease 8B61.4 Orphanet 481 TPD-KDCM38 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KDCM38 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KDCM38 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KDQMPA Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KDQZPN Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KDQZPN Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KDQZPN Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KDQZPN Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KDQZPN Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KDQZPN Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KDQZPN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KDQZPN Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KDQZPN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KDSJLS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KDTK7J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KDTK7J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KDUKK0 Noonan syndrome LD2F.15 Orphanet 648 TPD-KDUKK0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KDUKK0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KDUKK0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KDUKK0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KDUKK0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KDUKK0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KDUKK0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KDUKK0 Craniopharyngioma 2F9A Orphanet 54595 TPD-KDUKK0 Cushing disease 5A70.0 Orphanet 96253 TPD-KE275T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KE275T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KE2ELD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KE5DI8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KE5DI8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KE5DI8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KE5UHS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KE5UHS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KE5UHS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KE5UHS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KE5UHS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KE5UHS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KE5UHS Semantic dementia 6D83 Orphanet 100069 TPD-KE5UHS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KE7JLU Noonan syndrome LD2F.15 Orphanet 648 TPD-KE7JLU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KE7JLU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KE7JLU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KE7JLU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KE7JLU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KE7JLU Lynch syndrome 2B90.Y Orphanet 144 TPD-KE7JLU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KE7JLU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KE9LAE Kennedy disease 8B61.4 Orphanet 481 TPD-KE9LAE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KE9LAE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KE9LAE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KECEYQ Noonan syndrome LD2F.15 Orphanet 648 TPD-KECEYQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KECEYQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KECEYQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KECEYQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KECEYQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KECEYQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KECEYQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KECEYQ Craniopharyngioma 2F9A Orphanet 54595 TPD-KECEYQ Cushing disease 5A70.0 Orphanet 96253 TPD-KECYM9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KECYM9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KECYUE Kennedy disease 8B61.4 Orphanet 481 TPD-KECYUE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KECYUE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KECYUE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KEGLL7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KEHVGZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KEHVGZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KEIQFB Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KEJNPE Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-KEMELB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KEO1Q0 Kennedy disease 8B61.4 Orphanet 481 TPD-KEO1Q0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KEO1Q0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KEO1Q0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KEP7E6 Kennedy disease 8B61.4 Orphanet 481 TPD-KEP7E6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KEP7E6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KEP7E6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KER110 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KEUL18 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KEUL18 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KEUL18 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KEW56D Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KEX5B1 Kennedy disease 8B61.4 Orphanet 481 TPD-KEX5B1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KEX5B1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KEX5B1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KEZDZZ Noonan syndrome LD2F.15 Orphanet 648 TPD-KEZDZZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KEZDZZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KEZDZZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KEZDZZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KEZDZZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KEZDZZ Lynch syndrome 2B90.Y Orphanet 144 TPD-KEZDZZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KEZDZZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KF32DE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KF8XTV Familial melanoma QC61.Y Orphanet 618 TPD-KF8XTV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KF9V38 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KF9V38 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KF9V38 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KFAYFN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KFAYFN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KFAYFN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KFH156 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KFH156 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KFHXD8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KFHXD8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KFM8G9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KFM8G9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KFM8G9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KFM8G9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KFM8G9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KFM8G9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KFM8G9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KFM8G9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KFM8G9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KFQ200 Kennedy disease 8B61.4 Orphanet 481 TPD-KFQ200 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KFQ200 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KFQ200 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KFR2OQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KFSG64 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KFXN97 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KFZY6G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KFZY6G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KG07G6 Familial melanoma QC61.Y Orphanet 618 TPD-KG07G6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KG0W8O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KG0W8O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KG1CHY Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-KG1CHY Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-KG1CHY Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-KG3ROD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KG3ROD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KG68KZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KG68KZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KG68KZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KG7XIT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KGBFS9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KGBFS9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KGBFS9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KGBFS9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KGBFS9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KGBFS9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KGBFS9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KGBFS9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KGBFS9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KGBUWA Noonan syndrome LD2F.15 Orphanet 648 TPD-KGBUWA Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-KGFPG0 Kennedy disease 8B61.4 Orphanet 481 TPD-KGFPG0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KGFPG0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KGFPG0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KGGCY5 Kennedy disease 8B61.4 Orphanet 481 TPD-KGGCY5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KGGCY5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KGGCY5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KGKZO8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KGL628 Noonan syndrome LD2F.15 Orphanet 648 TPD-KGL628 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KGL628 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KGL628 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KGL628 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KGL628 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KGL628 Lynch syndrome 2B90.Y Orphanet 144 TPD-KGL628 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KGL628 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KGLX6U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KGLX6U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KGP3YE Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KGP3YE Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KGP3YE Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KGP3YE Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KGP3YE Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KGP3YE Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KGP3YE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KGP3YE Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KGP3YE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KGS61F Noonan syndrome LD2F.15 Orphanet 648 TPD-KGS61F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KGS61F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KGS61F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KGS61F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KGS61F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KGS61F Lynch syndrome 2B90.Y Orphanet 144 TPD-KGS61F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KGS61F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KGSFEP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KGSFEP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KGSFEP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KGTEQY Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KGTEQY Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KGTEQY Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KGTEQY Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KGTEQY Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KGTEQY Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KGTEQY Semantic dementia 6D83 Orphanet 100069 TPD-KGTEQY Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KGXDQS Kennedy disease 8B61.4 Orphanet 481 TPD-KGXDQS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KGXDQS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KGXDQS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KH3KK9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KH6JND Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KH8KDZ Familial melanoma QC61.Y Orphanet 618 TPD-KH8KDZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KHA99P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KHA99P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KHA99P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KHABFT Noonan syndrome LD2F.15 Orphanet 648 TPD-KHABFT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KHABFT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KHABFT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KHABFT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KHABFT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KHABFT Lynch syndrome 2B90.Y Orphanet 144 TPD-KHABFT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KHABFT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KHCDF0 Kennedy disease 8B61.4 Orphanet 481 TPD-KHCDF0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KHCDF0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KHCDF0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KHHZSD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KHHZSD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KHHZSD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KHIB23 Familial melanoma QC61.Y Orphanet 618 TPD-KHIB23 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KHK3M8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KHK3M8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KHK46J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KHNY9Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KHNY9Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KHNY9Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KHNY9Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KHP6HF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KHPDIH Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-KHPS8G Noonan syndrome LD2F.15 Orphanet 648 TPD-KHPS8G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KHPS8G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KHPS8G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KHPS8G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KHPS8G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KHPS8G Lynch syndrome 2B90.Y Orphanet 144 TPD-KHPS8G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KHPS8G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KHR8KK Noonan syndrome LD2F.15 Orphanet 648 TPD-KHR8KK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KHR8KK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KHR8KK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KHR8KK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KHR8KK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KHR8KK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KHR8KK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KHR8KK Craniopharyngioma 2F9A Orphanet 54595 TPD-KHR8KK Cushing disease 5A70.0 Orphanet 96253 TPD-KHSNSE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KHSNSE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KHSNSE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KHSNSE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KHV9WQ Kennedy disease 8B61.4 Orphanet 481 TPD-KHV9WQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KHV9WQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KHV9WQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KHWMCC Noonan syndrome LD2F.15 Orphanet 648 TPD-KHWMCC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KHWMCC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KHWMCC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KHWMCC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KHWMCC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KHWMCC Lynch syndrome 2B90.Y Orphanet 144 TPD-KHWMCC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KHWMCC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KHXTZP Noonan syndrome LD2F.15 Orphanet 648 TPD-KHXTZP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KHXTZP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KHXTZP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KHXTZP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KHXTZP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KHXTZP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KHXTZP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KHXTZP Craniopharyngioma 2F9A Orphanet 54595 TPD-KHXTZP Cushing disease 5A70.0 Orphanet 96253 TPD-KHYO3C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KHYO3C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KHYO3C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KHZQ58 Kennedy disease 8B61.4 Orphanet 481 TPD-KHZQ58 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KHZQ58 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KHZQ58 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KI1IRH Kennedy disease 8B61.4 Orphanet 481 TPD-KI1IRH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KI1IRH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KI1IRH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KI2IWN Familial melanoma QC61.Y Orphanet 618 TPD-KI2IWN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KI4MAS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KI4MAS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KIH156 Noonan syndrome LD2F.15 Orphanet 648 TPD-KIH156 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KIH156 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KIH156 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KIH156 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KIH156 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KIH156 Lynch syndrome 2B90.Y Orphanet 144 TPD-KIH156 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KIH156 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KIIN77 Noonan syndrome LD2F.15 Orphanet 648 TPD-KIIN77 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KIIN77 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KIIN77 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KIIN77 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KIIN77 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KIIN77 Lynch syndrome 2B90.Y Orphanet 144 TPD-KIIN77 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KIIN77 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KIJ8SV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KIJ8SV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KIJ8SV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KIJ8SV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KINV4B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KIQMTM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KIQMTM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KIRA2B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KIXAA0 Familial melanoma QC61.Y Orphanet 618 TPD-KIXAA0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KIXAXB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KIXAXB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KIXEGG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KIYNM4 Noonan syndrome LD2F.15 Orphanet 648 TPD-KIYNM4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KIYNM4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KIYNM4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KIYNM4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KIYNM4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KIYNM4 Lynch syndrome 2B90.Y Orphanet 144 TPD-KIYNM4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KIYNM4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KJ0MY5 Noonan syndrome LD2F.15 Orphanet 648 TPD-KJ0MY5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KJ0MY5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KJ0MY5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KJ0MY5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KJ0MY5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KJ0MY5 Lynch syndrome 2B90.Y Orphanet 144 TPD-KJ0MY5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KJ0MY5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KJ1OW8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KJ2210 Kennedy disease 8B61.4 Orphanet 481 TPD-KJ2210 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KJ2210 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KJ2210 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KJ4BXB Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KJ61OC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KJ61OC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KJ61OC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KJCNEJ Noonan syndrome LD2F.15 Orphanet 648 TPD-KJCNEJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KJCNEJ Metachondromatosis LD24.2Y Orphanet 2499 TPD-KJCNEJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KJFRCR Kennedy disease 8B61.4 Orphanet 481 TPD-KJFRCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KJFRCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KJFRCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KJH70S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KJH70S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KJJ6X9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KJL9O2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KJL9O2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KJLMTT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KJLO0T Noonan syndrome LD2F.15 Orphanet 648 TPD-KJLO0T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KJLO0T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KJLO0T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KJLO0T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KJLO0T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KJLO0T Lynch syndrome 2B90.Y Orphanet 144 TPD-KJLO0T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KJLO0T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KJOIYT Kennedy disease 8B61.4 Orphanet 481 TPD-KJOIYT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KJOIYT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KJOIYT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KJQIFQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KJQIFQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KJWRYE Kennedy disease 8B61.4 Orphanet 481 TPD-KJWRYE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KJWRYE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KJWRYE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KK0QYQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KK4EAC Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KK4EAC Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KK4EAC Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KK4EAC Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KK4EAC Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KK4EAC Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KK4EAC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KK4EAC Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KK4EAC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KK5DQT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KK5DQT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KK7H0G X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KK7H0G Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KK9W61 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KK9W61 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KK9W61 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KKA5QI Noonan syndrome LD2F.15 Orphanet 648 TPD-KKA5QI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KKA5QI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KKA5QI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KKA5QI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KKA5QI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KKA5QI Lynch syndrome 2B90.Y Orphanet 144 TPD-KKA5QI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KKA5QI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KKALJT Noonan syndrome LD2F.15 Orphanet 648 TPD-KKALJT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KKALJT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KKALJT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KKALJT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KKALJT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KKALJT Lynch syndrome 2B90.Y Orphanet 144 TPD-KKALJT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KKALJT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KKAOYV Kennedy disease 8B61.4 Orphanet 481 TPD-KKAOYV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KKAOYV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KKAOYV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KKBPVW Noonan syndrome LD2F.15 Orphanet 648 TPD-KKBPVW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KKBPVW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KKBPVW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KKBPVW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KKBPVW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KKBPVW Lynch syndrome 2B90.Y Orphanet 144 TPD-KKBPVW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KKBPVW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KKCI08 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KKOSSE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KKPM9X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KKPM9X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KKPM9X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KKQGG9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-KKRA2T Kennedy disease 8B61.4 Orphanet 481 TPD-KKRA2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KKRA2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KKRA2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KKRBDC Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KKRBDC Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KKSBS8 Kennedy disease 8B61.4 Orphanet 481 TPD-KKSBS8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KKSBS8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KKSBS8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KKSLFM Noonan syndrome LD2F.15 Orphanet 648 TPD-KKSLFM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KKSLFM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KKSLFM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KKSLFM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KKSLFM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KKSLFM Lynch syndrome 2B90.Y Orphanet 144 TPD-KKSLFM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KKSLFM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KKSNGB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KKSNGB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KKZ2VC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KL1NI0 Kennedy disease 8B61.4 Orphanet 481 TPD-KL1NI0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KL1NI0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KL1NI0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KL1NM2 Epithelioid hemangioendothelioma 2B5Y/XH9GF8 Orphanet 157791 TPD-KL7Y1I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KL7Y1I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KL8HGW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KL8HGW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KL8HGW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KLBKR1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KLBKR1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KLBTNU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KLBTNU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KLBTNU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KLCKWK Kennedy disease 8B61.4 Orphanet 481 TPD-KLCKWK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KLCKWK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KLCKWK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KLEWZ8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KLEWZ8 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KLEWZ8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KLFZ1E CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KLI3AO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KLI3AO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KLI3AO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KLI3AO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KLI3AO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KLI3AO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KLI3AO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KLI3AO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KLI3AO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KLNIND Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KLOMH0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KLQH3T Kennedy disease 8B61.4 Orphanet 481 TPD-KLQH3T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KLQH3T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KLQH3T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KLQQVF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KLTWGY Familial melanoma QC61.Y Orphanet 618 TPD-KLTWGY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KLUID1 Noonan syndrome LD2F.15 Orphanet 648 TPD-KLUID1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KLUID1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KLUID1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KLUID1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KLUID1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KLUID1 Lynch syndrome 2B90.Y Orphanet 144 TPD-KLUID1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KLUID1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KLWJSX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KLWJSX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KLZURP Noonan syndrome LD2F.15 Orphanet 648 TPD-KLZURP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KLZURP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KLZURP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KLZURP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KLZURP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KLZURP Lynch syndrome 2B90.Y Orphanet 144 TPD-KLZURP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KLZURP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KM5RS8 Kennedy disease 8B61.4 Orphanet 481 TPD-KM5RS8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KM5RS8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KM5RS8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KM5RVJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KM5RVJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KM5RVJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KM5RVJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KM5RVJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KM5RVJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KM5RVJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KM5RVJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KM5RVJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KM6FKP Noonan syndrome LD2F.15 Orphanet 648 TPD-KM6FKP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KM6FKP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KM6FKP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KM6FKP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KM6FKP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KM6FKP Lynch syndrome 2B90.Y Orphanet 144 TPD-KM6FKP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KM6FKP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KM83B7 Kennedy disease 8B61.4 Orphanet 481 TPD-KM83B7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KM83B7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KM83B7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KM8ZOE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KM8ZOE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KM8ZOE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KMADSL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KMADSL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KMC9I0 Noonan syndrome LD2F.15 Orphanet 648 TPD-KMC9I0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KMC9I0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KMC9I0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KMC9I0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KMC9I0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KMC9I0 Lynch syndrome 2B90.Y Orphanet 144 TPD-KMC9I0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KMC9I0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KMCGPU Kennedy disease 8B61.4 Orphanet 481 TPD-KMCGPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KMCGPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KMCGPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KMD6OE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KMHXV5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KMHXV5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KMI0F1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KMI0F1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KMIF4W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KMMCC5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-KMNKMG Kennedy disease 8B61.4 Orphanet 481 TPD-KMNKMG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KMNKMG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KMNKMG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KMPMG9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KMPMG9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KMPMG9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KMPMG9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KMPMG9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KMPMG9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KMPMG9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KMPMG9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KMPMG9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KMRB6U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KMRB6U Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KMRB6U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KMRP8Z Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-KMTYV3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-KMVWK2 Weaver syndrome LD2C Orphanet 3447 TPD-KMVZVL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KMWL2F Kennedy disease 8B61.4 Orphanet 481 TPD-KMWL2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KMWL2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KMWL2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KN2TC7 Familial melanoma QC61.Y Orphanet 618 TPD-KN2TC7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KN516G Familial melanoma QC61.Y Orphanet 618 TPD-KN516G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KN6N0K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KN6N0K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KN6N0K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KN6N0K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KN6N0K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KN6N0K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KN6N0K Semantic dementia 6D83 Orphanet 100069 TPD-KN6N0K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KN9M7Q Noonan syndrome LD2F.15 Orphanet 648 TPD-KN9M7Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KN9M7Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KN9M7Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KN9M7Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KN9M7Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KN9M7Q Lynch syndrome 2B90.Y Orphanet 144 TPD-KN9M7Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KN9M7Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KNFYKA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KNGYEK Kennedy disease 8B61.4 Orphanet 481 TPD-KNGYEK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KNGYEK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KNGYEK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KNJ3CZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KNMIFV Noonan syndrome LD2F.15 Orphanet 648 TPD-KNMIFV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KNMIFV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KNMIFV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KNMIFV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KNMIFV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KNMIFV Lynch syndrome 2B90.Y Orphanet 144 TPD-KNMIFV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KNMIFV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KNQGCT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KNVIIL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KNVPTB Kennedy disease 8B61.4 Orphanet 481 TPD-KNVPTB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KNVPTB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KNVPTB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KNZLME Kennedy disease 8B61.4 Orphanet 481 TPD-KNZLME Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KNZLME Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KNZLME Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KNZQTT Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-KNZSZ0 Kennedy disease 8B61.4 Orphanet 481 TPD-KNZSZ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KNZSZ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KNZSZ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KO0ORH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KO0ORH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KO0ORH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KO1A25 Kennedy disease 8B61.4 Orphanet 481 TPD-KO1A25 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KO1A25 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KO1A25 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KO2LDS Noonan syndrome LD2F.15 Orphanet 648 TPD-KO2LDS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KO2LDS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KO2LDS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KO2LDS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KO2LDS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KO2LDS Lynch syndrome 2B90.Y Orphanet 144 TPD-KO2LDS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KO2LDS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KO40X7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KO40X7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KO40X7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KO6OAU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KO7HDJ Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-KO7HDJ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-KO7HDJ Primary myelofibrosis 2A20.2 Orphanet 824 TPD-KO7HDJ Polycythemia vera 2A20.4 Orphanet 729 TPD-KO7HDJ Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-KO7HDJ Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-KO7HDJ T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-KOBAJF Kennedy disease 8B61.4 Orphanet 481 TPD-KOBAJF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KOBAJF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KOBAJF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KOCI3V Kennedy disease 8B61.4 Orphanet 481 TPD-KOCI3V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KOCI3V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KOCI3V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KOHFI1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KOHUOK Kennedy disease 8B61.4 Orphanet 481 TPD-KOHUOK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KOHUOK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KOHUOK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KOHXA3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KOJZ8S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KOJZ8S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KOJZ8S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KOUISN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KOUJVP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KOUJVP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KOUJVP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KOUJVP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KP11J9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KP1LAM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KP1LAM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KP1LAM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KP2CEK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KP2CEK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KP2CEK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KP2CEK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KP2OGI Noonan syndrome LD2F.15 Orphanet 648 TPD-KP2OGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KP2OGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KP2OGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KP2OGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KP2OGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KP2OGI Lynch syndrome 2B90.Y Orphanet 144 TPD-KP2OGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KP2OGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KP3WCM Noonan syndrome LD2F.15 Orphanet 648 TPD-KP3WCM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KP3WCM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KP3WCM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KP3WCM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KP3WCM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KP3WCM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KP3WCM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KP3WCM Craniopharyngioma 2F9A Orphanet 54595 TPD-KP3WCM Cushing disease 5A70.0 Orphanet 96253 TPD-KP5TNR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KP5TNR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KP5TNR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KP5TNR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KP6HTG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KP6HTG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KP6HTG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KPCJ5U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KPCJ5U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KPCJ5U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KPD7HF Kennedy disease 8B61.4 Orphanet 481 TPD-KPD7HF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KPD7HF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KPD7HF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KPG7UV Noonan syndrome LD2F.15 Orphanet 648 TPD-KPG7UV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KPG7UV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KPG7UV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KPG7UV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KPG7UV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KPG7UV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KPG7UV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KPG7UV Craniopharyngioma 2F9A Orphanet 54595 TPD-KPG7UV Cushing disease 5A70.0 Orphanet 96253 TPD-KPGOWO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KPGOWO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KPGOWO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KPGTNY Noonan syndrome LD2F.15 Orphanet 648 TPD-KPGTNY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KPGTNY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KPGTNY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KPGTNY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KPGTNY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KPGTNY Lynch syndrome 2B90.Y Orphanet 144 TPD-KPGTNY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KPGTNY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KPNKT8 Noonan syndrome LD2F.15 Orphanet 648 TPD-KPNKT8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KPNKT8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KPNKT8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KPNKT8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KPNKT8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KPNKT8 Lynch syndrome 2B90.Y Orphanet 144 TPD-KPNKT8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KPNKT8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KPP14K Noonan syndrome LD2F.15 Orphanet 648 TPD-KPP14K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KPP14K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KPP14K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KPP14K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KPP14K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KPP14K Lynch syndrome 2B90.Y Orphanet 144 TPD-KPP14K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KPP14K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KPSXKY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KPSXKY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KPW5AE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KPW5AE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KPW5AE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KPWGG7 Kennedy disease 8B61.4 Orphanet 481 TPD-KPWGG7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KPWGG7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KPWGG7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KPXGSI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KPXGSI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KPYTNK Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-KPZP71 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KPZP71 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-KPZP71 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KQ0CCU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KQ0CCU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KQ0CCU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KQ8DOE Kennedy disease 8B61.4 Orphanet 481 TPD-KQ8DOE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KQ8DOE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KQ8DOE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KQA804 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KQA804 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KQB891 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KQB891 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KQDOC6 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KQIV8Z Noonan syndrome LD2F.15 Orphanet 648 TPD-KQIV8Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KQIV8Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KQIV8Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KQIV8Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KQIV8Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KQIV8Z Lynch syndrome 2B90.Y Orphanet 144 TPD-KQIV8Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KQIV8Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KQKT1U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KQKT1U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KQKT1U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KQKT1U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KQLYQ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KQLYQ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KQOA8M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KQOA8M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KQOA8M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KQOIAH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KQOIAH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KQTHO6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KQTHO6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KQTHO6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KQTHO6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KQUNU1 Kennedy disease 8B61.4 Orphanet 481 TPD-KQUNU1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KQUNU1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KQUNU1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KR1WQ0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KR2AQS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KR4S2E CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KR8048 Meningioma 2A01.0 Orphanet 2495 TPD-KR8048 Bilateral striopallidodentate calcinosis LD20.4 Orphanet 1980 TPD-KR8048 Familial multiple meningioma 2A01.00 Orphanet 263662 TPD-KR8048 Dermatofibrosarcoma protuberans 2B53.Y Orphanet 31112 TPD-KR89CB Noonan syndrome LD2F.15 Orphanet 648 TPD-KR89CB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KR89CB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KR89CB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KR89CB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KR89CB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KR89CB Lynch syndrome 2B90.Y Orphanet 144 TPD-KR89CB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KR89CB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KR8UA8 Noonan syndrome LD2F.15 Orphanet 648 TPD-KR8UA8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KR8UA8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KR8UA8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KR8UA8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KR8UA8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KR8UA8 Lynch syndrome 2B90.Y Orphanet 144 TPD-KR8UA8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KR8UA8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KR9PW5 Noonan syndrome LD2F.15 Orphanet 648 TPD-KR9PW5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KR9PW5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KR9PW5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KR9PW5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KR9PW5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KR9PW5 Lynch syndrome 2B90.Y Orphanet 144 TPD-KR9PW5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KR9PW5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KRB47R Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-KRBKAY Noonan syndrome LD2F.15 Orphanet 648 TPD-KRBKAY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KRBKAY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KRBKAY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KRBKAY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KRBKAY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KRBKAY Lynch syndrome 2B90.Y Orphanet 144 TPD-KRBKAY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KRBKAY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KRBVJ0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KRBVZB Noonan syndrome LD2F.15 Orphanet 648 TPD-KRBVZB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KRBVZB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KRBVZB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KRBVZB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KRBVZB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KRBVZB Lynch syndrome 2B90.Y Orphanet 144 TPD-KRBVZB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KRBVZB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KRDXWB Familial melanoma QC61.Y Orphanet 618 TPD-KRHMUV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KRHMUV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KRHMUV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KRI9CT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KRI9CT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KRK7YW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KRK7YW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KRK7YW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KRMQCJ Noonan syndrome LD2F.15 Orphanet 648 TPD-KRMQCJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KRMQCJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KRMQCJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KRMQCJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KRMQCJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KRMQCJ Lynch syndrome 2B90.Y Orphanet 144 TPD-KRMQCJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KRMQCJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KRQTAN Kennedy disease 8B61.4 Orphanet 481 TPD-KRQTAN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KRQTAN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KRQTAN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KRU8X6 Familial melanoma QC61.Y Orphanet 618 TPD-KRVGZU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KRVPXI Kennedy disease 8B61.4 Orphanet 481 TPD-KRVPXI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KRVPXI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KRVPXI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KS3PJC Kennedy disease 8B61.4 Orphanet 481 TPD-KS3PJC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KS3PJC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KS3PJC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KS4M34 Kennedy disease 8B61.4 Orphanet 481 TPD-KS4M34 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KS4M34 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KS4M34 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KS75ZP Kennedy disease 8B61.4 Orphanet 481 TPD-KS75ZP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KS75ZP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KS75ZP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KSB47K Familial melanoma QC61.Y Orphanet 618 TPD-KSB47K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KSCNAH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KSDKSX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KSDKSX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KSEJYC Familial melanoma QC61.Y Orphanet 618 TPD-KSG2DF Kennedy disease 8B61.4 Orphanet 481 TPD-KSG2DF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KSG2DF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KSG2DF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KSH4D2 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-KSH4D2 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-KSJ0ZP Noonan syndrome LD2F.15 Orphanet 648 TPD-KSJ0ZP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KSJ0ZP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KSJ0ZP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KSJ0ZP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KSJ0ZP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KSJ0ZP Lynch syndrome 2B90.Y Orphanet 144 TPD-KSJ0ZP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KSJ0ZP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KSKMPO Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-KSLRP8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KSLRP8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KSN7N6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KSPH9A Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KSPUFO Familial melanoma QC61.Y Orphanet 618 TPD-KSPUFO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KSSSYT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KSSSYT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KSW4FO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KSW4FO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KSW4FO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KSWUWI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KSWUWI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KSWUWI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KSWXNC Kennedy disease 8B61.4 Orphanet 481 TPD-KSWXNC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KSWXNC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KSWXNC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KSXJBC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KSZ53O Kennedy disease 8B61.4 Orphanet 481 TPD-KSZ53O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KSZ53O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KSZ53O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KT3FD6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KT3I4M Kennedy disease 8B61.4 Orphanet 481 TPD-KT3I4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KT3I4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KT3I4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KT8VRR Noonan syndrome LD2F.15 Orphanet 648 TPD-KT8VRR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KT8VRR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KT8VRR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KT8VRR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KT8VRR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KT8VRR Lynch syndrome 2B90.Y Orphanet 144 TPD-KT8VRR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KT8VRR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KTAIJS Kennedy disease 8B61.4 Orphanet 481 TPD-KTAIJS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KTAIJS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KTAIJS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KTCD25 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KTCD25 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KTCD25 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KTCD25 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KTFTYK Kennedy disease 8B61.4 Orphanet 481 TPD-KTFTYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KTFTYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KTFTYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KTMQB6 Kennedy disease 8B61.4 Orphanet 481 TPD-KTMQB6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KTMQB6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KTMQB6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KTNU7X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KTRHDN Kennedy disease 8B61.4 Orphanet 481 TPD-KTRHDN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KTRHDN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KTRHDN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KTY1FL Noonan syndrome LD2F.15 Orphanet 648 TPD-KTY1FL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KTY1FL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KTY1FL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KTY1FL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KTY1FL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KTY1FL Lynch syndrome 2B90.Y Orphanet 144 TPD-KTY1FL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KTY1FL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KTY8ZI Noonan syndrome LD2F.15 Orphanet 648 TPD-KTY8ZI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KTY8ZI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KTY8ZI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KTY8ZI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KTY8ZI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KTY8ZI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KTY8ZI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KTY8ZI Craniopharyngioma 2F9A Orphanet 54595 TPD-KTY8ZI Cushing disease 5A70.0 Orphanet 96253 TPD-KTZEHL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-KTZEHL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-KU2P61 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KU2P61 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KU2ZOT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KU2ZOT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KU8IN9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KU8IN9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KU8IN9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KU8IN9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KU8IN9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KU8IN9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KU8IN9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KU8IN9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KU8IN9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KUE1D1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KUE1D1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KUE1D1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KUE1D1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KUFHYO Familial melanoma QC61.Y Orphanet 618 TPD-KUFHYO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KUHSMY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KUI4D3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KUKU7S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KUN6LV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KUN6LV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KUN6LV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KUUB56 Kennedy disease 8B61.4 Orphanet 481 TPD-KUUB56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KUUB56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KUUB56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KUVUOC Kennedy disease 8B61.4 Orphanet 481 TPD-KUVUOC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KUVUOC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KUVUOC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KUXXRA Familial melanoma QC61.Y Orphanet 618 TPD-KUXXRA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KV0GR5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KV0GR5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KV0QRK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KV0QRK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KV97GO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KV97GO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KV97GO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KV97GO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KVC78Q Noonan syndrome LD2F.15 Orphanet 648 TPD-KVC78Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KVC78Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KVC78Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KVC78Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KVC78Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KVC78Q Lynch syndrome 2B90.Y Orphanet 144 TPD-KVC78Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KVC78Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KVC8X7 Noonan syndrome LD2F.15 Orphanet 648 TPD-KVC8X7 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-KVMIBG Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KVQ5S8 Kennedy disease 8B61.4 Orphanet 481 TPD-KVQ5S8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KVQ5S8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KVQ5S8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KVQXDU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KVR17M Kennedy disease 8B61.4 Orphanet 481 TPD-KVR17M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KVR17M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KVR17M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KVU7JL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-KVVPTZ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KVVPTZ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KVVPTZ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KVVPTZ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KVVPTZ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KVVPTZ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KVVPTZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KVVPTZ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KVVPTZ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KW3BNN Noonan syndrome LD2F.15 Orphanet 648 TPD-KW3BNN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KW3BNN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KW3BNN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KW3BNN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KW3BNN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KW3BNN Lynch syndrome 2B90.Y Orphanet 144 TPD-KW3BNN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KW3BNN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KW4OLL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-KW4OLL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-KW5UMU Isolated Joubert syndrome LD20.00 Orphanet 475 TPD-KW5UMU Orofaciodigital syndrome type 6 LD25.00 Orphanet 2754 TPD-KWC0KG Kennedy disease 8B61.4 Orphanet 481 TPD-KWC0KG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KWC0KG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KWC0KG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KWCR4O Kennedy disease 8B61.4 Orphanet 481 TPD-KWCR4O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KWCR4O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KWCR4O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KWCTAP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-KWCTAP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-KWCTAP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-KWCTAP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-KWCTAP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-KWCTAP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-KWCTAP Semantic dementia 6D83 Orphanet 100069 TPD-KWCTAP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-KWKLMR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KWNQH3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KWRPP7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KWRPP7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KWT1YG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KWTV1K Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KWWGAG Noonan syndrome LD2F.15 Orphanet 648 TPD-KWWGAG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KWWGAG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KWWGAG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KWWGAG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KWWGAG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KWWGAG Lynch syndrome 2B90.Y Orphanet 144 TPD-KWWGAG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KWWGAG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KX25FQ Kennedy disease 8B61.4 Orphanet 481 TPD-KX25FQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KX25FQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KX25FQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KX36M0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KX36M0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KX3O6I Noonan syndrome LD2F.15 Orphanet 648 TPD-KX3O6I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KX3O6I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KX3O6I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KX3O6I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KX3O6I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KX3O6I Lynch syndrome 2B90.Y Orphanet 144 TPD-KX3O6I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KX3O6I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KX48D3 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-KX48D3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-KX4A7I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KX4A7I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KX4A7I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KX4WFC Kennedy disease 8B61.4 Orphanet 481 TPD-KX4WFC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KX4WFC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KX4WFC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KX5SJ3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KX5SJ3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KX7FWL Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-KX7FWL Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-KX7FWL Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-KX7FWL Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-KX7FWL Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-KX7FWL Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-KX7FWL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KX7FWL Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-KX7FWL Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-KX8T9I Kennedy disease 8B61.4 Orphanet 481 TPD-KX8T9I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KX8T9I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KX8T9I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KX9MET Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KXBZTQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-KXDNQ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-KXDNQ5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXDNQ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXDNQ5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXDNQ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXDNQ5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXDNQ5 Lynch syndrome 2B90.Y Orphanet 144 TPD-KXDNQ5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXDNQ5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KXDNXH Noonan syndrome LD2F.15 Orphanet 648 TPD-KXDNXH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXDNXH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXDNXH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXDNXH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXDNXH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXDNXH Lynch syndrome 2B90.Y Orphanet 144 TPD-KXDNXH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXDNXH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KXEE4Z Kennedy disease 8B61.4 Orphanet 481 TPD-KXEE4Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KXEE4Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KXEE4Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KXEP7T Cystic fibrosis CA25 Orphanet 586 TPD-KXEP7T Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-KXH05W Kennedy disease 8B61.4 Orphanet 481 TPD-KXH05W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KXH05W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KXH05W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KXHJFR Noonan syndrome LD2F.15 Orphanet 648 TPD-KXHJFR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXHJFR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXHJFR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXHJFR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXHJFR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXHJFR Lynch syndrome 2B90.Y Orphanet 144 TPD-KXHJFR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXHJFR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KXI6S3 Kennedy disease 8B61.4 Orphanet 481 TPD-KXI6S3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KXI6S3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KXI6S3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KXK9LN Kennedy disease 8B61.4 Orphanet 481 TPD-KXK9LN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KXK9LN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KXK9LN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KXLXBZ Familial melanoma QC61.Y Orphanet 618 TPD-KXLXBZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KXPSTP Noonan syndrome LD2F.15 Orphanet 648 TPD-KXPSTP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXPSTP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXPSTP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXPSTP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXPSTP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXPSTP Lynch syndrome 2B90.Y Orphanet 144 TPD-KXPSTP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXPSTP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KXS8NO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KXS8NO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KXT5HU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KXT5HU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KXT5HU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KXTU8P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KXTU8P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KXTU8P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KXVYUJ Kennedy disease 8B61.4 Orphanet 481 TPD-KXVYUJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KXVYUJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KXVYUJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KXX952 Noonan syndrome LD2F.15 Orphanet 648 TPD-KXX952 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXX952 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXX952 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXX952 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXX952 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXX952 Lynch syndrome 2B90.Y Orphanet 144 TPD-KXX952 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXX952 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KXXBUC Noonan syndrome LD2F.15 Orphanet 648 TPD-KXXBUC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KXXBUC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KXXBUC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KXXBUC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KXXBUC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KXXBUC Lynch syndrome 2B90.Y Orphanet 144 TPD-KXXBUC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KXXBUC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KY09CO Familial melanoma QC61.Y Orphanet 618 TPD-KY09CO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KY5Z7E Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KYC0LU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KYC0LU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-KYC395 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KYC395 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KYC395 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KYCEE3 Familial melanoma QC61.Y Orphanet 618 TPD-KYCEE3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KYCXPZ Kennedy disease 8B61.4 Orphanet 481 TPD-KYCXPZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KYCXPZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KYCXPZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KYGHTU Noonan syndrome LD2F.15 Orphanet 648 TPD-KYGHTU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KYGHTU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KYGHTU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KYGHTU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KYGHTU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KYGHTU Lynch syndrome 2B90.Y Orphanet 144 TPD-KYGHTU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KYGHTU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KYKPEV Familial melanoma QC61.Y Orphanet 618 TPD-KYKPEV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KYL3VU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-KYL3VU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-KYL3VU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-KYL3VU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-KYM5QK Kennedy disease 8B61.4 Orphanet 481 TPD-KYM5QK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KYM5QK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KYM5QK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KYQEH6 Noonan syndrome LD2F.15 Orphanet 648 TPD-KYQEH6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KYQEH6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KYQEH6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KYQEH6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KYQEH6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KYQEH6 Lynch syndrome 2B90.Y Orphanet 144 TPD-KYQEH6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KYQEH6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KYVHXA Noonan syndrome LD2F.15 Orphanet 648 TPD-KYVHXA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-KYVHXA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KYVHXA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KYVHXA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KYVHXA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-KYVHXA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-KYVHXA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-KYVHXA Craniopharyngioma 2F9A Orphanet 54595 TPD-KYVHXA Cushing disease 5A70.0 Orphanet 96253 TPD-KYVOP6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KZ2DJ2 Familial melanoma QC61.Y Orphanet 618 TPD-KZ2DJ2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-KZ5PAK Noonan syndrome LD2F.15 Orphanet 648 TPD-KZ5PAK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-KZ5PAK Metachondromatosis LD24.2Y Orphanet 2499 TPD-KZ5PAK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KZ6DDP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-KZ81OM Kennedy disease 8B61.4 Orphanet 481 TPD-KZ81OM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KZ81OM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KZ81OM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KZ9BZG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-KZ9BZG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-KZ9BZG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-KZDQ6N Kennedy disease 8B61.4 Orphanet 481 TPD-KZDQ6N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KZDQ6N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KZDQ6N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KZGY76 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-KZGY76 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-KZH2VS Kennedy disease 8B61.4 Orphanet 481 TPD-KZH2VS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KZH2VS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KZH2VS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KZH7UI Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-KZNVF8 Noonan syndrome LD2F.15 Orphanet 648 TPD-KZNVF8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KZNVF8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KZNVF8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KZNVF8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KZNVF8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KZNVF8 Lynch syndrome 2B90.Y Orphanet 144 TPD-KZNVF8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KZNVF8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KZPXSP Kennedy disease 8B61.4 Orphanet 481 TPD-KZPXSP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KZPXSP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KZPXSP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-KZRFU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-KZRFU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-KZRFU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-KZRFU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-KZRFU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-KZRFU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-KZRFU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-KZRFU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-KZRFU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-KZTR50 Noonan syndrome LD2F.15 Orphanet 648 TPD-KZTR50 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-KZYGOD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-KZYSWF Kennedy disease 8B61.4 Orphanet 481 TPD-KZYSWF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-KZYSWF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-KZYSWF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L08282 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-L08282 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-L08HH0 Noonan syndrome LD2F.15 Orphanet 648 TPD-L08HH0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-L08HH0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-L08HH0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L08HH0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L08HH0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-L08HH0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-L08HH0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-L08HH0 Craniopharyngioma 2F9A Orphanet 54595 TPD-L08HH0 Cushing disease 5A70.0 Orphanet 96253 TPD-L08KFW Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-L08KFW Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-L0C43V Kennedy disease 8B61.4 Orphanet 481 TPD-L0C43V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L0C43V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L0C43V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L0E3UB Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-L0FKJW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-L0GDB2 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-L0GDB2 CINCA syndrome 4A60.1 Orphanet 1451 TPD-L0GDB2 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-L0H1GJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-L0IV98 Kennedy disease 8B61.4 Orphanet 481 TPD-L0IV98 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L0IV98 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L0IV98 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L0PC5I Kennedy disease 8B61.4 Orphanet 481 TPD-L0PC5I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L0PC5I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L0PC5I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L0QB46 Noonan syndrome LD2F.15 Orphanet 648 TPD-L0QB46 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L0QB46 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L0QB46 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L0QB46 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L0QB46 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L0QB46 Lynch syndrome 2B90.Y Orphanet 144 TPD-L0QB46 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L0QB46 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L0VXJQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-L0WNI6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L0WNI6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L0WNI6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L0WNI6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L12WVQ Noonan syndrome LD2F.15 Orphanet 648 TPD-L12WVQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L12WVQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L12WVQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L12WVQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L12WVQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L12WVQ Lynch syndrome 2B90.Y Orphanet 144 TPD-L12WVQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L12WVQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L133E4 Kennedy disease 8B61.4 Orphanet 481 TPD-L133E4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L133E4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L133E4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L13Z2X Noonan syndrome LD2F.15 Orphanet 648 TPD-L13Z2X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L13Z2X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L13Z2X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L13Z2X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L13Z2X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L13Z2X Lynch syndrome 2B90.Y Orphanet 144 TPD-L13Z2X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L13Z2X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L163QZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-L163QZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-L195W3 Noonan syndrome LD2F.15 Orphanet 648 TPD-L195W3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L195W3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L195W3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L195W3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L195W3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L195W3 Lynch syndrome 2B90.Y Orphanet 144 TPD-L195W3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L195W3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L1C7EJ Noonan syndrome LD2F.15 Orphanet 648 TPD-L1C7EJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-L1HL36 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L1MFK8 Kennedy disease 8B61.4 Orphanet 481 TPD-L1MFK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L1MFK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L1MFK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L1NJ93 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-L1NJ93 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-L1PA2T Noonan syndrome LD2F.15 Orphanet 648 TPD-L1PA2T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L1PA2T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L1PA2T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L1PA2T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L1PA2T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L1PA2T Lynch syndrome 2B90.Y Orphanet 144 TPD-L1PA2T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L1PA2T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L1T21D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L1T21D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L1T21D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L1UN2R Weaver syndrome LD2C Orphanet 3447 TPD-L1UYZO Noonan syndrome LD2F.15 Orphanet 648 TPD-L1UYZO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L1UYZO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L1UYZO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L1UYZO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L1UYZO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L1UYZO Lynch syndrome 2B90.Y Orphanet 144 TPD-L1UYZO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L1UYZO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L1WQSB Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-L1XRR1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L1XRR1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-L1YR8M Noonan syndrome LD2F.15 Orphanet 648 TPD-L1YR8M Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-L23E9S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L23E9S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L23E9S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L23E9S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L25PB0 Kennedy disease 8B61.4 Orphanet 481 TPD-L25PB0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L25PB0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L25PB0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L2AF40 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-L2AF40 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-L2GY11 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-L2GY11 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-L2H4JM Kennedy disease 8B61.4 Orphanet 481 TPD-L2H4JM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L2H4JM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L2H4JM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L2M7OD Kennedy disease 8B61.4 Orphanet 481 TPD-L2M7OD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L2M7OD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L2M7OD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L2NYLD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L2OFQX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L2PZCN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L2PZCN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-L2PZCN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L2UFYU Weaver syndrome LD2C Orphanet 3447 TPD-L30BTN 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-L30NEH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L30VQ5 Kennedy disease 8B61.4 Orphanet 481 TPD-L30VQ5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L30VQ5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L30VQ5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L34ZCR Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-L37QVJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L37QVJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-L37QVJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L385XI Kennedy disease 8B61.4 Orphanet 481 TPD-L385XI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L385XI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L385XI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L38XHY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L3DEVA Kennedy disease 8B61.4 Orphanet 481 TPD-L3DEVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L3DEVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L3DEVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L3DJF2 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-L3G1HA Kennedy disease 8B61.4 Orphanet 481 TPD-L3G1HA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L3G1HA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L3G1HA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L3J9PG Kennedy disease 8B61.4 Orphanet 481 TPD-L3J9PG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L3J9PG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L3J9PG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L3LLMB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L3LLMB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L3LLMB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L3M1OQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L3OS2Y Noonan syndrome LD2F.15 Orphanet 648 TPD-L3OS2Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L3OS2Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L3OS2Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L3OS2Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L3OS2Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L3OS2Y Lynch syndrome 2B90.Y Orphanet 144 TPD-L3OS2Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L3OS2Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L3VW0T Kennedy disease 8B61.4 Orphanet 481 TPD-L3VW0T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L3VW0T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L3VW0T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L3XE41 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L3XE41 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L3XM1Q Kennedy disease 8B61.4 Orphanet 481 TPD-L3XM1Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L3XM1Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L3XM1Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L3Y1PN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L3YXE2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L3YXE2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L3YXE2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L3YXE2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L43NP4 Noonan syndrome LD2F.15 Orphanet 648 TPD-L43NP4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L43NP4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L43NP4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L43NP4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L43NP4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L43NP4 Lynch syndrome 2B90.Y Orphanet 144 TPD-L43NP4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L43NP4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L459X8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L47RKZ Noonan syndrome LD2F.15 Orphanet 648 TPD-L47RKZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L47RKZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L47RKZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L47RKZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L47RKZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L47RKZ Lynch syndrome 2B90.Y Orphanet 144 TPD-L47RKZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L47RKZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L48OVI Noonan syndrome LD2F.15 Orphanet 648 TPD-L48OVI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L48OVI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L48OVI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L48OVI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L48OVI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L48OVI Lynch syndrome 2B90.Y Orphanet 144 TPD-L48OVI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L48OVI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L49HCJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L4AAU5 Noonan syndrome LD2F.15 Orphanet 648 TPD-L4AAU5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L4AAU5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L4AAU5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L4AAU5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L4AAU5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L4AAU5 Lynch syndrome 2B90.Y Orphanet 144 TPD-L4AAU5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L4AAU5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L4B7H0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-L4B7H0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-L4EPF9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L4HY4Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-L4HY4Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-L4K776 Noonan syndrome LD2F.15 Orphanet 648 TPD-L4K776 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-L4M3BI Noonan syndrome LD2F.15 Orphanet 648 TPD-L4M3BI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L4M3BI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L4M3BI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L4M3BI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L4M3BI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L4M3BI Lynch syndrome 2B90.Y Orphanet 144 TPD-L4M3BI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L4M3BI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L4MVGG Kennedy disease 8B61.4 Orphanet 481 TPD-L4MVGG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L4MVGG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L4MVGG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L4MWOF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-L4N329 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-L4N329 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-L4O28P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L4OUV2 Noonan syndrome LD2F.15 Orphanet 648 TPD-L4OUV2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-L4OUV2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-L4OUV2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L4OUV2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L4OUV2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-L4OUV2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-L4OUV2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-L4OUV2 Craniopharyngioma 2F9A Orphanet 54595 TPD-L4OUV2 Cushing disease 5A70.0 Orphanet 96253 TPD-L4PQHY Kennedy disease 8B61.4 Orphanet 481 TPD-L4PQHY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L4PQHY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L4PQHY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L4QIPM Kennedy disease 8B61.4 Orphanet 481 TPD-L4QIPM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L4QIPM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L4QIPM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L4W9T4 Kennedy disease 8B61.4 Orphanet 481 TPD-L4W9T4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L4W9T4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L4W9T4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L4WBLD Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-L50P84 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L50P84 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-L54OWT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-L56H4H Kennedy disease 8B61.4 Orphanet 481 TPD-L56H4H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L56H4H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L56H4H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L56I1I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L56I1I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L56I1I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L59YIB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L59YIB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L59YIB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L5CJ3R Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-L5CJ3R Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-L5CJ3R Primary myelofibrosis 2A20.2 Orphanet 824 TPD-L5CJ3R Polycythemia vera 2A20.4 Orphanet 729 TPD-L5CJ3R Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-L5CJ3R Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-L5CJ3R T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-L5CKTA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L5CKTA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L5CKTA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L5CKTA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L5DH6N Kennedy disease 8B61.4 Orphanet 481 TPD-L5DH6N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L5DH6N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L5DH6N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L5DJRJ Kennedy disease 8B61.4 Orphanet 481 TPD-L5DJRJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L5DJRJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L5DJRJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L5JOOB Noonan syndrome LD2F.15 Orphanet 648 TPD-L5JOOB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L5JOOB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L5JOOB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L5JOOB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L5JOOB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L5JOOB Lynch syndrome 2B90.Y Orphanet 144 TPD-L5JOOB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L5JOOB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L5NC1J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L5NC1J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L5NYVF Kennedy disease 8B61.4 Orphanet 481 TPD-L5NYVF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L5NYVF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L5NYVF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L5QVXN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L5QVXN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L5SAJD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L5SAJD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L5SAJD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L5SXU1 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-L5UG99 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L5UG99 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L5UG99 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L5WPNJ Noonan syndrome LD2F.15 Orphanet 648 TPD-L5WPNJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L5WPNJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L5WPNJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L5WPNJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L5WPNJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L5WPNJ Lynch syndrome 2B90.Y Orphanet 144 TPD-L5WPNJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L5WPNJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L5YC5S Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-L5YC5S Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-L64VXA Hirschsprung disease LB16.1 Orphanet 388 TPD-L64VXA Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-L676L6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-L676L6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-L676L6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-L676L6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-L676L6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-L676L6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-L676L6 Semantic dementia 6D83 Orphanet 100069 TPD-L676L6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-L67O7W Kennedy disease 8B61.4 Orphanet 481 TPD-L67O7W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L67O7W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L67O7W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L6A4SG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L6A4SG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L6A4SG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L6CIDA Noonan syndrome LD2F.15 Orphanet 648 TPD-L6CIDA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L6CIDA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L6CIDA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L6CIDA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L6CIDA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L6CIDA Lynch syndrome 2B90.Y Orphanet 144 TPD-L6CIDA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L6CIDA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L6DVJQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L6DVJQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L6L7SF Kennedy disease 8B61.4 Orphanet 481 TPD-L6L7SF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L6L7SF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L6L7SF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L6NI5Q Familial melanoma QC61.Y Orphanet 618 TPD-L6NI5Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-L6O0YU Familial melanoma QC61.Y Orphanet 618 TPD-L6O0YU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-L6PWY9 Isolated focal cortical dysplasia type IIb LA05.51 Orphanet 269008 TPD-L6PWY9 Isolated focal cortical dysplasia type IIa LA05.51 Orphanet 269001 TPD-L6PWY9 Hemimegalencephaly LA05.1 Orphanet 99802 TPD-L6RH6W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L6RH6W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L6RH6W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L6RH6W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L6THRV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L6THRV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L6TM0O Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-L6TM0O Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-L6TM0O Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-L6TM0O Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-L6TM0O Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-L6TM0O Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-L6TM0O Semantic dementia 6D83 Orphanet 100069 TPD-L6TM0O Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-L6W590 Noonan syndrome LD2F.15 Orphanet 648 TPD-L6W590 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L6W590 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L6W590 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L6W590 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L6W590 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L6W590 Lynch syndrome 2B90.Y Orphanet 144 TPD-L6W590 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L6W590 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L6WUR6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L6WUR6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L6XAFJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L6XAFJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-L6Y6FK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L6YO7M Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L6YTHA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L6YTHA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-L6YTHA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L6Z7EZ Kennedy disease 8B61.4 Orphanet 481 TPD-L6Z7EZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L6Z7EZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L6Z7EZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L73W4P Achondroplasia LD24.00 Orphanet 15 TPD-L73W4P Hypochondroplasia LD24.01 Orphanet 429 TPD-L73W4P Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-L73W4P Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-L73W4P Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-L73W4P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L73W4P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L73W4P Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-L73W4P Muenke syndrome LD24.GY Orphanet 53271 TPD-L73W4P Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-L73W4P Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-L73W4P Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-L74O00 Kennedy disease 8B61.4 Orphanet 481 TPD-L74O00 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L74O00 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L74O00 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L751J9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-L751J9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-L75HD8 Kennedy disease 8B61.4 Orphanet 481 TPD-L75HD8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L75HD8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L75HD8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L764CZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-L767G3 Noonan syndrome LD2F.15 Orphanet 648 TPD-L767G3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L767G3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L767G3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L767G3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L767G3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L767G3 Lynch syndrome 2B90.Y Orphanet 144 TPD-L767G3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L767G3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L76OP4 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-L76OP4 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-L76OP4 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-L76OP4 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-L76OP4 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-L76OP4 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-L76OP4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L76OP4 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-L76OP4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-L78EXD Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-L7AVW8 Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-L7AVW8 Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-L7AVW8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-L7CRWR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L7CRWR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-L7DTNY Kennedy disease 8B61.4 Orphanet 481 TPD-L7DTNY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L7DTNY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L7DTNY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L7E53U Noonan syndrome LD2F.15 Orphanet 648 TPD-L7E53U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-L7E53U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-L7E53U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L7E53U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L7E53U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-L7E53U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-L7E53U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-L7E53U Craniopharyngioma 2F9A Orphanet 54595 TPD-L7E53U Cushing disease 5A70.0 Orphanet 96253 TPD-L7J6C3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L7J6C3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L7J6C3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L7P7UD Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-L7QJQT Noonan syndrome LD2F.15 Orphanet 648 TPD-L7QJQT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L7QJQT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L7QJQT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L7QJQT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L7QJQT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L7QJQT Lynch syndrome 2B90.Y Orphanet 144 TPD-L7QJQT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L7QJQT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L7UR3V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L7UR3V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L7UR3V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L7UR3V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L7YN02 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L81KV8 Kennedy disease 8B61.4 Orphanet 481 TPD-L81KV8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L81KV8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L81KV8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L825LJ Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-L825LJ Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-L86JFL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L87K5X Noonan syndrome LD2F.15 Orphanet 648 TPD-L87K5X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L87K5X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L87K5X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L87K5X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L87K5X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L87K5X Lynch syndrome 2B90.Y Orphanet 144 TPD-L87K5X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L87K5X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L87V7E Kennedy disease 8B61.4 Orphanet 481 TPD-L87V7E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L87V7E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L87V7E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L883XK Familial melanoma QC61.Y Orphanet 618 TPD-L883XK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-L8CMSB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L8HG4J Familial melanoma QC61.Y Orphanet 618 TPD-L8HG4J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-L8JMBY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L8JMBY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L8JMBY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L8JMBY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L8MNJD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L8MNJD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L8MNJD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L8ONOX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-L8U16L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L8U16L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L8U16L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L8U16L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L8V1B3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L8V1B3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L8V1B3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L8V1B3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L8V8GK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-L8W9UK Kennedy disease 8B61.4 Orphanet 481 TPD-L8W9UK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L8W9UK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L8W9UK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-L8ZN14 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L8ZN14 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L8ZN14 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L90HKM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-L90HKM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-L92E1V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L92E1V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L92E1V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L92E1V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-L92JJ4 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-L92JJ4 Crouzon syndrome LD24.G1 Orphanet 207 TPD-L92JJ4 Apert syndrome LD24.G2 Orphanet 87 TPD-L92JJ4 Familial scaphocephaly syndrome, McGillivray type LD24.GY Orphanet 168624 TPD-L92JJ4 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome LD27.0Y Orphanet 1555 TPD-L92JJ4 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-L92JJ4 Pfeiffer syndrome type 3 LD24.G0 Orphanet 93260 TPD-L92JJ4 Pfeiffer syndrome type 2 LD24.G0 Orphanet 93259 TPD-L92JJ4 Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-L92JJ4 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis LD24.GY Orphanet 596008 TPD-L97IBV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-L97IBV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-L97IBV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-L97W0I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-L97W0I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-L9A9O3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-L9DFOW Noonan syndrome LD2F.15 Orphanet 648 TPD-L9DFOW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L9DFOW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L9DFOW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L9DFOW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L9DFOW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L9DFOW Lynch syndrome 2B90.Y Orphanet 144 TPD-L9DFOW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L9DFOW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L9EIQV Noonan syndrome LD2F.15 Orphanet 648 TPD-L9EIQV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-L9EIQV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L9EIQV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-L9EIQV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L9EIQV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-L9EIQV Lynch syndrome 2B90.Y Orphanet 144 TPD-L9EIQV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-L9EIQV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-L9O8V2 Noonan syndrome LD2F.15 Orphanet 648 TPD-L9O8V2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-L9O8V2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-L9O8V2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-L9O8V2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-L9O8V2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-L9O8V2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-L9O8V2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-L9O8V2 Craniopharyngioma 2F9A Orphanet 54595 TPD-L9O8V2 Cushing disease 5A70.0 Orphanet 96253 TPD-L9VRK3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-L9VRK3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-L9VRK3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-L9ZIDY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-L9ZVDG Kennedy disease 8B61.4 Orphanet 481 TPD-L9ZVDG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-L9ZVDG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-L9ZVDG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LA0QLS Familial melanoma QC61.Y Orphanet 618 TPD-LA0QLS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LA1P12 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-LA942V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LA942V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LA942V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LA942V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LA9M59 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LA9QND Noonan syndrome LD2F.15 Orphanet 648 TPD-LA9QND Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LA9QND Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LA9QND Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LA9QND Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LA9QND Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LA9QND Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LA9QND Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LA9QND Craniopharyngioma 2F9A Orphanet 54595 TPD-LA9QND Cushing disease 5A70.0 Orphanet 96253 TPD-LAAP24 Noonan syndrome LD2F.15 Orphanet 648 TPD-LAAP24 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LAAP24 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LAAP24 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LAAP24 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LAAP24 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LAAP24 Lynch syndrome 2B90.Y Orphanet 144 TPD-LAAP24 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LAAP24 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LAH1I4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LAL0GY Kennedy disease 8B61.4 Orphanet 481 TPD-LAL0GY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LAL0GY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LAL0GY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LALG5M Familial melanoma QC61.Y Orphanet 618 TPD-LAO9NU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LAO9NU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LAO9NU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LAO9NU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LAPUIW Kennedy disease 8B61.4 Orphanet 481 TPD-LAPUIW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LAPUIW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LAPUIW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LATXAP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LAWEBG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LAYRP0 Kennedy disease 8B61.4 Orphanet 481 TPD-LAYRP0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LAYRP0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LAYRP0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LB00XG Noonan syndrome LD2F.15 Orphanet 648 TPD-LB00XG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LB00XG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LB00XG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LB00XG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LB00XG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LB00XG Lynch syndrome 2B90.Y Orphanet 144 TPD-LB00XG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LB00XG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LB14JE Familial melanoma QC61.Y Orphanet 618 TPD-LB14JE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LB1RI9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LB2C9F Noonan syndrome LD2F.15 Orphanet 648 TPD-LB2C9F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LB2C9F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LB2C9F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LB2C9F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LB2C9F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LB2C9F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LB2C9F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LB2C9F Craniopharyngioma 2F9A Orphanet 54595 TPD-LB2C9F Cushing disease 5A70.0 Orphanet 96253 TPD-LB31M6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LB31M6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LB442Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LB442Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LB442Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LB442Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LB44UI Familial melanoma QC61.Y Orphanet 618 TPD-LBBBE9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LBGDPT Kennedy disease 8B61.4 Orphanet 481 TPD-LBGDPT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LBGDPT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LBGDPT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LBHBYQ Noonan syndrome LD2F.15 Orphanet 648 TPD-LBHBYQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LBHBYQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LBHBYQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LBHBYQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LBHBYQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LBHBYQ Lynch syndrome 2B90.Y Orphanet 144 TPD-LBHBYQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LBHBYQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LBHJC7 Noonan syndrome LD2F.15 Orphanet 648 TPD-LBHJC7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LBHJC7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LBHJC7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LBHJC7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LBHJC7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LBHJC7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LBHJC7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LBHJC7 Craniopharyngioma 2F9A Orphanet 54595 TPD-LBHJC7 Cushing disease 5A70.0 Orphanet 96253 TPD-LBHREN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LBIWQD Kennedy disease 8B61.4 Orphanet 481 TPD-LBIWQD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LBIWQD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LBIWQD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LBWC0D Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-LBX3D0 Noonan syndrome LD2F.15 Orphanet 648 TPD-LBX3D0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LBX3D0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LBX3D0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LBX3D0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LBX3D0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LBX3D0 Lynch syndrome 2B90.Y Orphanet 144 TPD-LBX3D0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LBX3D0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LBXPHG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-LBXPHG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-LC17A3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LC17A3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LC17A3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LC3RYT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LC3RYT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LC3RYT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LC4NJ9 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-LC5Q8H Kennedy disease 8B61.4 Orphanet 481 TPD-LC5Q8H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LC5Q8H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LC5Q8H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LCCPT3 Noonan syndrome LD2F.15 Orphanet 648 TPD-LCCPT3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LCCPT3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LCCPT3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LCCPT3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LCCPT3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LCCPT3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LCCPT3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LCCPT3 Craniopharyngioma 2F9A Orphanet 54595 TPD-LCCPT3 Cushing disease 5A70.0 Orphanet 96253 TPD-LCGG6T Kennedy disease 8B61.4 Orphanet 481 TPD-LCGG6T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LCGG6T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LCGG6T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LCMD9V CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LCMT6B Kennedy disease 8B61.4 Orphanet 481 TPD-LCMT6B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LCMT6B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LCMT6B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LCP841 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LCR19R Noonan syndrome LD2F.15 Orphanet 648 TPD-LCR19R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LCR19R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LCR19R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LCR19R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LCR19R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LCR19R Lynch syndrome 2B90.Y Orphanet 144 TPD-LCR19R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LCR19R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LCRJN4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LCRJN4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LCUFVX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LCUFVX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LCUFVX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LCUFVX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LCXAFT Kennedy disease 8B61.4 Orphanet 481 TPD-LCXAFT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LCXAFT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LCXAFT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LCY30T Kennedy disease 8B61.4 Orphanet 481 TPD-LCY30T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LCY30T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LCY30T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LD1H6Z Kennedy disease 8B61.4 Orphanet 481 TPD-LD1H6Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LD1H6Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LD1H6Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LD9W6T Noonan syndrome LD2F.15 Orphanet 648 TPD-LD9W6T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LD9W6T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LD9W6T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LD9W6T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LD9W6T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LD9W6T Lynch syndrome 2B90.Y Orphanet 144 TPD-LD9W6T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LD9W6T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LDA7B8 Noonan syndrome LD2F.15 Orphanet 648 TPD-LDA7B8 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-LDALXC Kennedy disease 8B61.4 Orphanet 481 TPD-LDALXC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LDALXC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LDALXC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LDB71M Kennedy disease 8B61.4 Orphanet 481 TPD-LDB71M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LDB71M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LDB71M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LDBAOV Familial melanoma QC61.Y Orphanet 618 TPD-LDBAOV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LDFMRV Noonan syndrome LD2F.15 Orphanet 648 TPD-LDFMRV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LDFMRV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LDFMRV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LDFMRV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LDFMRV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LDFMRV Lynch syndrome 2B90.Y Orphanet 144 TPD-LDFMRV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LDFMRV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LDFZNY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LDFZNY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LDGXUA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-LDGXUA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-LDGXUA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-LDGXUA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-LDGXUA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-LDGXUA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-LDGXUA Semantic dementia 6D83 Orphanet 100069 TPD-LDGXUA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-LDHDQJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LDIUK0 Kennedy disease 8B61.4 Orphanet 481 TPD-LDIUK0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LDIUK0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LDIUK0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LDM170 Weaver syndrome LD2C Orphanet 3447 TPD-LDT7ZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LDT7ZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LDT7ZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LDVU4J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LDVU4J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LDYHWH Cystic fibrosis CA25 Orphanet 586 TPD-LDYHWH Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-LE0H43 Noonan syndrome LD2F.15 Orphanet 648 TPD-LE0H43 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LE0H43 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LE0H43 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LE0H43 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LE0H43 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LE0H43 Lynch syndrome 2B90.Y Orphanet 144 TPD-LE0H43 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LE0H43 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LE1Q11 Kennedy disease 8B61.4 Orphanet 481 TPD-LE1Q11 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LE1Q11 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LE1Q11 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LE5ECE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LE5ECE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LE5ECE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LE5ECE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LE8VD9 Familial melanoma QC61.Y Orphanet 618 TPD-LE8VD9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LEB51Y Noonan syndrome LD2F.15 Orphanet 648 TPD-LEB51Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LEB51Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LEB51Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LEB51Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LEB51Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LEB51Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LEB51Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LEB51Y Craniopharyngioma 2F9A Orphanet 54595 TPD-LEB51Y Cushing disease 5A70.0 Orphanet 96253 TPD-LEFVT3 Noonan syndrome LD2F.15 Orphanet 648 TPD-LEFVT3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LEFVT3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LEFVT3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LEFVT3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LEFVT3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LEFVT3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LEFVT3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LEFVT3 Craniopharyngioma 2F9A Orphanet 54595 TPD-LEFVT3 Cushing disease 5A70.0 Orphanet 96253 TPD-LEGEF5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LEM1SC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LENFP2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LENFP2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LENFP2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LENFP2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LEQK7T Noonan syndrome LD2F.15 Orphanet 648 TPD-LEQK7T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LEQK7T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LEQK7T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LEQK7T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LEQK7T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LEQK7T Lynch syndrome 2B90.Y Orphanet 144 TPD-LEQK7T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LEQK7T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LEV2CT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LEXAVN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LEXAVN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LEXAVN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LF19WH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LF3346 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LF3346 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LF3346 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LF384X Noonan syndrome LD2F.15 Orphanet 648 TPD-LF384X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LF384X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LF384X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LF384X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LF384X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LF384X Lynch syndrome 2B90.Y Orphanet 144 TPD-LF384X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LF384X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LF6F98 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LF6F98 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LF6F98 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LF6F98 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LF7EDS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LF94O3 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-LF94O3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-LF9VYG Familial melanoma QC61.Y Orphanet 618 TPD-LF9VYG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LFALJQ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-LFALJQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LFALJQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LFALJQ Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-LFALJQ Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-LFALJQ Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-LFALJQ Osteosarcoma 2B51 Orphanet 668 TPD-LFALJQ Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-LFALJQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LFALJQ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-LFALJQ Small cell lung cancer 2C25.1 Orphanet 70573 TPD-LFALJQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LFALJQ Cushing disease 5A70.0 Orphanet 96253 TPD-LFALJQ Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-LFALJQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LFECEO Kennedy disease 8B61.4 Orphanet 481 TPD-LFECEO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LFECEO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LFECEO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LFH9TR Noonan syndrome LD2F.15 Orphanet 648 TPD-LFH9TR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LFH9TR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LFH9TR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LFH9TR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LFH9TR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LFH9TR Lynch syndrome 2B90.Y Orphanet 144 TPD-LFH9TR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LFH9TR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LFHD67 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LFHD67 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LFHD67 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LFJBFH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-LFJBFH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-LFJBFH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-LFJBFH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-LFJBFH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-LFJBFH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-LFJBFH Semantic dementia 6D83 Orphanet 100069 TPD-LFJBFH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-LFKB0U Noonan syndrome LD2F.15 Orphanet 648 TPD-LFKB0U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LFKB0U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LFKB0U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LFKB0U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LFKB0U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LFKB0U Lynch syndrome 2B90.Y Orphanet 144 TPD-LFKB0U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LFKB0U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LFOQM1 Hirschsprung disease LB16.1 Orphanet 388 TPD-LFOQM1 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-LFOQM1 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-LFPJXY Familial melanoma QC61.Y Orphanet 618 TPD-LFPJXY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LFRGDX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LFUEES Kennedy disease 8B61.4 Orphanet 481 TPD-LFUEES Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LFUEES Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LFUEES Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LFXHFR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LFXHFR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LFXHFR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LFXHFR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LFXX0V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LFXX0V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LFXX0V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LFZ3YH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LG0N26 Noonan syndrome LD2F.15 Orphanet 648 TPD-LG0N26 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LG0N26 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LG0N26 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LG0N26 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LG0N26 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LG0N26 Lynch syndrome 2B90.Y Orphanet 144 TPD-LG0N26 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LG0N26 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LG0N2W Kennedy disease 8B61.4 Orphanet 481 TPD-LG0N2W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LG0N2W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LG0N2W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LG1ZPK Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-LG1ZPK Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-LG3EVR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LG3EVR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LG3EVR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LG54I9 Familial melanoma QC61.Y Orphanet 618 TPD-LG54I9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LG8SQN Kennedy disease 8B61.4 Orphanet 481 TPD-LG8SQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LG8SQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LG8SQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LGA0A7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LGBWC6 Kennedy disease 8B61.4 Orphanet 481 TPD-LGBWC6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LGBWC6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LGBWC6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LGF1UP Kennedy disease 8B61.4 Orphanet 481 TPD-LGF1UP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LGF1UP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LGF1UP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LGI7A6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LGI7A6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LGJFKC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LGJFKC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LGJFKC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LGM3IQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LGMDNP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LGMWA7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LGMWA7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LGMWA7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LGO4C4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LGQVQ4 Kennedy disease 8B61.4 Orphanet 481 TPD-LGQVQ4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LGQVQ4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LGQVQ4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LGUGD5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LGUGD5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LGUGD5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LGV01S Noonan syndrome LD2F.15 Orphanet 648 TPD-LGV01S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LGV01S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LGV01S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LGV01S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LGV01S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LGV01S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LGV01S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LGV01S Craniopharyngioma 2F9A Orphanet 54595 TPD-LGV01S Cushing disease 5A70.0 Orphanet 96253 TPD-LGWE1J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LGX4CH Familial melanoma QC61.Y Orphanet 618 TPD-LH0Z8J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LH4ZV6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LH4ZV6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LH7ROJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LH8JMK Noonan syndrome LD2F.15 Orphanet 648 TPD-LH8JMK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LH8JMK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LH8JMK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LH8JMK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LH8JMK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LH8JMK Lynch syndrome 2B90.Y Orphanet 144 TPD-LH8JMK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LH8JMK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LH8TIQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LH8TIQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LH8TIQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LHCRZ4 Familial melanoma QC61.Y Orphanet 618 TPD-LHCRZ4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LHDW8S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LHDW8S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LHDW8S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LHHJHV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LHHJHV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LHHJHV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LHT4VG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LHT4VG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LHT4VG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LHUEXF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LI07SY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LI07SY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LI07SY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LI07SY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LI42K3 Noonan syndrome LD2F.15 Orphanet 648 TPD-LI42K3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LI42K3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LI42K3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LI42K3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LI42K3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LI42K3 Lynch syndrome 2B90.Y Orphanet 144 TPD-LI42K3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LI42K3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LI96BN Kennedy disease 8B61.4 Orphanet 481 TPD-LI96BN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LI96BN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LI96BN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LICLFU Noonan syndrome LD2F.15 Orphanet 648 TPD-LICLFU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LICLFU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LICLFU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LICLFU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LICLFU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LICLFU Lynch syndrome 2B90.Y Orphanet 144 TPD-LICLFU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LICLFU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LIDXDF Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-LIDXDF MODY 5A13.6 Orphanet 552 TPD-LIDXDF Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-LIDXDF Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-LIDXDF Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-LIDXDF Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-LIEC0C Achondroplasia LD24.00 Orphanet 15 TPD-LIEC0C Hypochondroplasia LD24.01 Orphanet 429 TPD-LIEC0C Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-LIEC0C Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-LIEC0C Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-LIEC0C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LIEC0C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LIEC0C Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-LIEC0C Muenke syndrome LD24.GY Orphanet 53271 TPD-LIEC0C Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-LIEC0C Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-LIEC0C Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-LIGAP1 Noonan syndrome LD2F.15 Orphanet 648 TPD-LIGAP1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LIGAP1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LIGAP1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LIGAP1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LIGAP1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LIGAP1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LIGAP1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LIGAP1 Craniopharyngioma 2F9A Orphanet 54595 TPD-LIGAP1 Cushing disease 5A70.0 Orphanet 96253 TPD-LIGJN4 Kennedy disease 8B61.4 Orphanet 481 TPD-LIGJN4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LIGJN4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LIGJN4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LIHJFM Kennedy disease 8B61.4 Orphanet 481 TPD-LIHJFM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LIHJFM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LIHJFM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LIJAB1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LIJAB1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LIJAB1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LILCGF Noonan syndrome LD2F.15 Orphanet 648 TPD-LILCGF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LILCGF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LILCGF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LILCGF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LILCGF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LILCGF Lynch syndrome 2B90.Y Orphanet 144 TPD-LILCGF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LILCGF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LILPF4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LILPF4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LIMGI8 Familial melanoma QC61.Y Orphanet 618 TPD-LIMGI8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LIMJR8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LIOAI6 Familial melanoma QC61.Y Orphanet 618 TPD-LIOAI6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LISID0 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-LISID0 CINCA syndrome 4A60.1 Orphanet 1451 TPD-LISID0 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-LISN47 Kennedy disease 8B61.4 Orphanet 481 TPD-LISN47 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LISN47 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LISN47 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LIT45V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LIW262 Familial melanoma QC61.Y Orphanet 618 TPD-LIW262 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LIXMX6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LIXMX6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LIXMX6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LIXMXB Kennedy disease 8B61.4 Orphanet 481 TPD-LIXMXB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LIXMXB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LIXMXB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LJ5WOO Weaver syndrome LD2C Orphanet 3447 TPD-LJ7HGR Kennedy disease 8B61.4 Orphanet 481 TPD-LJ7HGR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LJ7HGR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LJ7HGR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LJAKH3 Kennedy disease 8B61.4 Orphanet 481 TPD-LJAKH3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LJAKH3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LJAKH3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LJB12T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LJB12T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LJB12T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LJELP8 Kennedy disease 8B61.4 Orphanet 481 TPD-LJELP8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LJELP8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LJELP8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LJFFE3 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-LJFFE3 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LJFFE3 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LJFFE3 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LJFFE3 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LJFFE3 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LJFFE3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LJFFE3 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LJFFE3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LJL6E5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-LJLH0A Familial melanoma QC61.Y Orphanet 618 TPD-LJLH0A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LJM95Z Noonan syndrome LD2F.15 Orphanet 648 TPD-LJM95Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LJM95Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LJM95Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LJM95Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LJM95Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LJM95Z Lynch syndrome 2B90.Y Orphanet 144 TPD-LJM95Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LJM95Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LJOVJ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-LJOVJ9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LJOVJ9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LJOVJ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LJOVJ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LJOVJ9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LJOVJ9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LJOVJ9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LJOVJ9 Craniopharyngioma 2F9A Orphanet 54595 TPD-LJOVJ9 Cushing disease 5A70.0 Orphanet 96253 TPD-LJSPHN Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-LJSPHN CINCA syndrome 4A60.1 Orphanet 1451 TPD-LJSPHN Familial cold urticaria 4A60.1 Orphanet 47045 TPD-LJUBB9 Kennedy disease 8B61.4 Orphanet 481 TPD-LJUBB9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LJUBB9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LJUBB9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LJUDKQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LJWDUO Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-LJWDUO Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-LJWDUO Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-LJWEID Kennedy disease 8B61.4 Orphanet 481 TPD-LJWEID Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LJWEID Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LJWEID Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LK0LND Noonan syndrome LD2F.15 Orphanet 648 TPD-LK0LND Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LK0LND Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LK0LND Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LK0LND Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LK0LND Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LK0LND Lynch syndrome 2B90.Y Orphanet 144 TPD-LK0LND Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LK0LND Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LK0T6N Kennedy disease 8B61.4 Orphanet 481 TPD-LK0T6N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LK0T6N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LK0T6N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LK1MF3 Kennedy disease 8B61.4 Orphanet 481 TPD-LK1MF3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LK1MF3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LK1MF3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LK43LL Familial melanoma QC61.Y Orphanet 618 TPD-LK43LL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LK4U7Y Kennedy disease 8B61.4 Orphanet 481 TPD-LK4U7Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LK4U7Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LK4U7Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LK780C Noonan syndrome LD2F.15 Orphanet 648 TPD-LK780C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LK780C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LK780C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LK780C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LK780C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LK780C Lynch syndrome 2B90.Y Orphanet 144 TPD-LK780C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LK780C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LK894A Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-LK894A Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LK894A Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LK894A Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LK894A Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LK894A Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LK894A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LK894A Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LK894A Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LK8GJE Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-LK8GJE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-LKA1WI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LKAOCG Kennedy disease 8B61.4 Orphanet 481 TPD-LKAOCG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LKAOCG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LKAOCG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LKGR0A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LKIOTF Noonan syndrome LD2F.15 Orphanet 648 TPD-LKIOTF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LKIOTF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LKIOTF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LKIOTF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LKIOTF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LKIOTF Lynch syndrome 2B90.Y Orphanet 144 TPD-LKIOTF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LKIOTF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LKLWP1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LKLWP1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LKR0HI Kennedy disease 8B61.4 Orphanet 481 TPD-LKR0HI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LKR0HI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LKR0HI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LKR1T7 Kennedy disease 8B61.4 Orphanet 481 TPD-LKR1T7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LKR1T7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LKR1T7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LKWEIC Kennedy disease 8B61.4 Orphanet 481 TPD-LKWEIC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LKWEIC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LKWEIC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LKX3KF Noonan syndrome LD2F.15 Orphanet 648 TPD-LKX3KF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LKX3KF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LKX3KF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LKX3KF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LKX3KF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LKX3KF Lynch syndrome 2B90.Y Orphanet 144 TPD-LKX3KF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LKX3KF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LKXN55 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LKXN55 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LKXN55 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LKXN55 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LKXYNR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LKXYNR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LKXYNR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LL0QKK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LL0QKK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LL1HI9 Kennedy disease 8B61.4 Orphanet 481 TPD-LL1HI9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LL1HI9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LL1HI9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LL42UB Familial melanoma QC61.Y Orphanet 618 TPD-LL42UB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LL45F6 Noonan syndrome LD2F.15 Orphanet 648 TPD-LL45F6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LL45F6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LL45F6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LL45F6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LL45F6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LL45F6 Lynch syndrome 2B90.Y Orphanet 144 TPD-LL45F6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LL45F6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LLC5CN Kennedy disease 8B61.4 Orphanet 481 TPD-LLC5CN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LLC5CN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LLC5CN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LLGHJ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-LLGHJ5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LLGHJ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LLGHJ5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LLGHJ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LLGHJ5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LLGHJ5 Lynch syndrome 2B90.Y Orphanet 144 TPD-LLGHJ5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LLGHJ5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LLKJBA Kennedy disease 8B61.4 Orphanet 481 TPD-LLKJBA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LLKJBA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LLKJBA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LLMB7G Noonan syndrome LD2F.15 Orphanet 648 TPD-LLMB7G Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-LLMIWG Noonan syndrome LD2F.15 Orphanet 648 TPD-LLMIWG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LLMIWG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LLMIWG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LLMIWG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LLMIWG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LLMIWG Lynch syndrome 2B90.Y Orphanet 144 TPD-LLMIWG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LLMIWG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LLR8TT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LLWOM2 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LLXDEQ Noonan syndrome LD2F.15 Orphanet 648 TPD-LLXDEQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LLXDEQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LLXDEQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LLXDEQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LLXDEQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LLXDEQ Lynch syndrome 2B90.Y Orphanet 144 TPD-LLXDEQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LLXDEQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LM0F69 Noonan syndrome LD2F.15 Orphanet 648 TPD-LM0F69 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LM0F69 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LM0F69 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LM0F69 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LM0F69 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LM0F69 Lynch syndrome 2B90.Y Orphanet 144 TPD-LM0F69 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LM0F69 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LM125T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LM125T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LM28HA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-LM28HA Submucosal cleft palate LA4Y Orphanet 155878 TPD-LM28HA Cleft hard palate LA42.0 Orphanet 101023 TPD-LM28HA Cleft velum LA42.1 Orphanet 99772 TPD-LM28HA Bifid uvula LA42.2 Orphanet 99771 TPD-LM6BKQ Kennedy disease 8B61.4 Orphanet 481 TPD-LM6BKQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LM6BKQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LM6BKQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LM9LFQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LM9LFQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LMAUBO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LMAUBO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LMHLFU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LMJ0O4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LMJ0O4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LMJ0O4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LMJ0O4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LMKZ6V Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LMKZ6V Neuroblastoma 2A00.11 Orphanet 635 TPD-LMKZ6V Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-LMKZ6V ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-LMKZ6V ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-LMNQN4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LMNQN4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LMPNXH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LMPNXH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LMQDQK Noonan syndrome LD2F.15 Orphanet 648 TPD-LMQDQK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LMQDQK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LMQDQK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LMQDQK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LMQDQK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LMQDQK Lynch syndrome 2B90.Y Orphanet 144 TPD-LMQDQK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LMQDQK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LMTGBN Kennedy disease 8B61.4 Orphanet 481 TPD-LMTGBN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LMTGBN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LMTGBN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LMZ84D Familial melanoma QC61.Y Orphanet 618 TPD-LMZ84D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LN184V Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LN2ODP Noonan syndrome LD2F.15 Orphanet 648 TPD-LN2ODP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LN2ODP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LN2ODP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LN2ODP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LN2ODP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LN2ODP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LN2ODP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LN2ODP Craniopharyngioma 2F9A Orphanet 54595 TPD-LN2ODP Cushing disease 5A70.0 Orphanet 96253 TPD-LN7C6K Kennedy disease 8B61.4 Orphanet 481 TPD-LN7C6K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LN7C6K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LN7C6K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LN9JZ9 Familial melanoma QC61.Y Orphanet 618 TPD-LN9N7U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LNA722 Noonan syndrome LD2F.15 Orphanet 648 TPD-LNA722 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LNA722 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LNA722 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LNA722 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LNA722 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LNA722 Lynch syndrome 2B90.Y Orphanet 144 TPD-LNA722 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LNA722 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LNCQF3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LNIE9O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LNJP22 Noonan syndrome LD2F.15 Orphanet 648 TPD-LNJP22 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LNJP22 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LNJP22 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LNJP22 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LNJP22 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LNJP22 Lynch syndrome 2B90.Y Orphanet 144 TPD-LNJP22 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LNJP22 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LNLGUM Noonan syndrome LD2F.15 Orphanet 648 TPD-LNLGUM Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-LNM2XB Familial melanoma QC61.Y Orphanet 618 TPD-LNM2XB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LNMCDQ Kennedy disease 8B61.4 Orphanet 481 TPD-LNMCDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LNMCDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LNMCDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LNOU9Y Kennedy disease 8B61.4 Orphanet 481 TPD-LNOU9Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LNOU9Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LNOU9Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LNP01R Kennedy disease 8B61.4 Orphanet 481 TPD-LNP01R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LNP01R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LNP01R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LNQPM1 Kennedy disease 8B61.4 Orphanet 481 TPD-LNQPM1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LNQPM1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LNQPM1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LNUCM2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LNUEJH Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LO1NB3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LO3LVS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LO3LVS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LO4VPK Noonan syndrome LD2F.15 Orphanet 648 TPD-LO4VPK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LO4VPK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LO4VPK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LO4VPK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LO4VPK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LO4VPK Lynch syndrome 2B90.Y Orphanet 144 TPD-LO4VPK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LO4VPK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LO8BIP Kennedy disease 8B61.4 Orphanet 481 TPD-LO8BIP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LO8BIP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LO8BIP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LO9F8P Hirschsprung disease LB16.1 Orphanet 388 TPD-LO9F8P Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-LO9F8P Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-LO9SFX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LOC8SD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LOCE4Z Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-LOF4BI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LOF4BI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LOF4BI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LOFOEI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LOFOEI Wilson-Turner syndrome LD29 Orphanet 3459 TPD-LOIX7X Kennedy disease 8B61.4 Orphanet 481 TPD-LOIX7X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LOIX7X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LOIX7X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LOKBUL Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-LOKBUL Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-LOKBUL Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-LOKBUL Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-LOKBUL Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-LOKBUL Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-LOKBUL Semantic dementia 6D83 Orphanet 100069 TPD-LOKBUL Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-LOP1D3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LOQEFC Kennedy disease 8B61.4 Orphanet 481 TPD-LOQEFC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LOQEFC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LOQEFC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LORK6Z Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-LORK6Z Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-LOTSC6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LOTSC6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LOTSC6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LOZR68 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LP0LTC Noonan syndrome LD2F.15 Orphanet 648 TPD-LP0LTC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LP0LTC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LP0LTC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LP0LTC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LP0LTC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LP0LTC Lynch syndrome 2B90.Y Orphanet 144 TPD-LP0LTC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LP0LTC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LP1AHX Kennedy disease 8B61.4 Orphanet 481 TPD-LP1AHX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LP1AHX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LP1AHX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LP2EOJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LP2EOJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LP2EOJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LP37OC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LP4XRO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LP4XRO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LP4XRO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LP4XRO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LP6I55 Kennedy disease 8B61.4 Orphanet 481 TPD-LP6I55 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LP6I55 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LP6I55 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LP87G8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LP87G8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LP9QHH Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-LP9URC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LP9URC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LPBP62 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LPBP62 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LPBP62 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LPBP62 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LPEMGH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-LPEMGH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-LPG0NH Noonan syndrome LD2F.15 Orphanet 648 TPD-LPG0NH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LPG0NH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LPG0NH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LPG0NH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LPG0NH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LPG0NH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LPG0NH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LPG0NH Craniopharyngioma 2F9A Orphanet 54595 TPD-LPG0NH Cushing disease 5A70.0 Orphanet 96253 TPD-LPH8HP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LPH8HP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LPH8HP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LPHFME Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LPHLK4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LPHLK4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LPKLXV Noonan syndrome LD2F.15 Orphanet 648 TPD-LPKLXV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LPKLXV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LPKLXV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LPKLXV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LPKLXV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LPKLXV Lynch syndrome 2B90.Y Orphanet 144 TPD-LPKLXV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LPKLXV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LPKOML Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-LPKOML Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LPKOML Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LPKOML Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-LPKOML Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-LPKOML Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-LPKOML Osteosarcoma 2B51 Orphanet 668 TPD-LPKOML Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-LPKOML Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LPKOML Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-LPKOML Small cell lung cancer 2C25.1 Orphanet 70573 TPD-LPKOML B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LPKOML Cushing disease 5A70.0 Orphanet 96253 TPD-LPKOML Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-LPKOML B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LPLV1G Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LPOWRY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LPSSV1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LPSSV1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LPSSV1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LPVZOR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LPVZOR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LPY21B Kennedy disease 8B61.4 Orphanet 481 TPD-LPY21B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LPY21B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LPY21B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LQ0S5H Noonan syndrome LD2F.15 Orphanet 648 TPD-LQ0S5H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LQ0S5H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LQ0S5H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LQ0S5H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LQ0S5H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LQ0S5H Lynch syndrome 2B90.Y Orphanet 144 TPD-LQ0S5H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LQ0S5H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LQ4042 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LQ4042 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LQ4042 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LQ4P76 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LQ4P76 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LQ5SWN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LQ7II4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LQ7II4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LQ8RXY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LQ8RXY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LQ8RXY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LQ8VN3 Noonan syndrome LD2F.15 Orphanet 648 TPD-LQ8VN3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LQ8VN3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LQ8VN3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LQ8VN3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LQ8VN3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LQ8VN3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LQ8VN3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LQ8VN3 Craniopharyngioma 2F9A Orphanet 54595 TPD-LQ8VN3 Cushing disease 5A70.0 Orphanet 96253 TPD-LQ9MLO Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-LQ9VO8 Kennedy disease 8B61.4 Orphanet 481 TPD-LQ9VO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LQ9VO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LQ9VO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LQCN5P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LQCN5P Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LQD8AT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LQD8AT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LQD8AT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LQD8AT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LQFJ8R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LQFJ8R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LQG0KN Kennedy disease 8B61.4 Orphanet 481 TPD-LQG0KN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LQG0KN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LQG0KN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LQI0XE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LQI0XE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LQI0XE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LQI5QN Noonan syndrome LD2F.15 Orphanet 648 TPD-LQI5QN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LQI5QN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LQI5QN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LQI5QN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LQI5QN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LQI5QN Lynch syndrome 2B90.Y Orphanet 144 TPD-LQI5QN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LQI5QN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LQIO4K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LQIO4K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LQIO4K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LQK17X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LQK17X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LQLSU1 Familial melanoma QC61.Y Orphanet 618 TPD-LQLSU1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LQO0ST Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-LQRHPP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LQRHPP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LQRZW9 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-LQRZW9 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-LQRZW9 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-LQTPYE Kennedy disease 8B61.4 Orphanet 481 TPD-LQTPYE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LQTPYE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LQTPYE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LQTW7E CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LQY13B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LR1YQQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LR1YQQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LR1YQQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LR2JN9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LR2JN9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LR2JN9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LR42AC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LR42AC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LR42AC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LR45D5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LR45D5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LR4S0Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LR4S0Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LR590C Kennedy disease 8B61.4 Orphanet 481 TPD-LR590C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LR590C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LR590C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LR5ZFA Noonan syndrome LD2F.15 Orphanet 648 TPD-LR5ZFA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LR5ZFA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LR5ZFA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LR5ZFA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LR5ZFA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LR5ZFA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LR5ZFA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LR5ZFA Craniopharyngioma 2F9A Orphanet 54595 TPD-LR5ZFA Cushing disease 5A70.0 Orphanet 96253 TPD-LR8IOV Noonan syndrome LD2F.15 Orphanet 648 TPD-LR8IOV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LR8IOV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LR8IOV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LR8IOV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LR8IOV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LR8IOV Lynch syndrome 2B90.Y Orphanet 144 TPD-LR8IOV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LR8IOV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LR94MH Kennedy disease 8B61.4 Orphanet 481 TPD-LR94MH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LR94MH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LR94MH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LR9JOO Noonan syndrome LD2F.15 Orphanet 648 TPD-LR9JOO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LR9JOO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LR9JOO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LR9JOO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LR9JOO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LR9JOO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LR9JOO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LR9JOO Craniopharyngioma 2F9A Orphanet 54595 TPD-LR9JOO Cushing disease 5A70.0 Orphanet 96253 TPD-LRC5YO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LRC8SY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LRCTDS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LRGRIY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LRL8C9 Kennedy disease 8B61.4 Orphanet 481 TPD-LRL8C9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LRL8C9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LRL8C9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LRPYC7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LRQ650 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LRQ650 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LRSH7T Kennedy disease 8B61.4 Orphanet 481 TPD-LRSH7T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LRSH7T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LRSH7T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LRTCB7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LRTCB7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LRTCB7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LRTCB7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LRWBTF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LRWBTF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LRWBTF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LRWBTF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LRX5HA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LRXVYR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LS05XX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LS05XX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LS3ERQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LS5KMO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LS8XTN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LS8XTN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LS8XTN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LS8XTN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LSAO3T Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-LSBPAG Kennedy disease 8B61.4 Orphanet 481 TPD-LSBPAG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LSBPAG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LSBPAG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LSI37J Noonan syndrome LD2F.15 Orphanet 648 TPD-LSI37J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LSI37J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LSI37J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LSI37J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LSI37J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LSI37J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LSI37J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LSI37J Craniopharyngioma 2F9A Orphanet 54595 TPD-LSI37J Cushing disease 5A70.0 Orphanet 96253 TPD-LSICRT Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LSIYBS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LSIYBS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LSIYBS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LSQM1D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LSQM1D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LSQM1D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LSS9TS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LSW6R7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LSW6R7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LSW6R7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LSW6R7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LSY1Z0 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-LSZEPE Burkitt lymphoma XH4KA9 Orphanet 543 TPD-LSZEPE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LSZEPE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-LT31SD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LT31SD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LT7GC0 Familial melanoma QC61.Y Orphanet 618 TPD-LT7GC0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LTG47F Noonan syndrome LD2F.15 Orphanet 648 TPD-LTG47F Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-LTL5WL Kennedy disease 8B61.4 Orphanet 481 TPD-LTL5WL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LTL5WL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LTL5WL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LTMX42 Noonan syndrome LD2F.15 Orphanet 648 TPD-LTMX42 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-LTNOLZ Noonan syndrome LD2F.15 Orphanet 648 TPD-LTNOLZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LTNOLZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LTNOLZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LTNOLZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LTNOLZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LTNOLZ Lynch syndrome 2B90.Y Orphanet 144 TPD-LTNOLZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LTNOLZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LTP0CU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LTP0CU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LTR09R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LTTU2Y Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LTUKG9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LTVSTE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LU09D3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LU2P3W Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-LU2VT3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LU2VT3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LU2VT3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LU51P1 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-LU82N2 Familial melanoma QC61.Y Orphanet 618 TPD-LU82N2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LU8TKV Noonan syndrome LD2F.15 Orphanet 648 TPD-LU8TKV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LU8TKV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LU8TKV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LU8TKV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LU8TKV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LU8TKV Lynch syndrome 2B90.Y Orphanet 144 TPD-LU8TKV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LU8TKV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LUDYA9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LUDYA9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LUIN5B Noonan syndrome LD2F.15 Orphanet 648 TPD-LUIN5B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LUIN5B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LUIN5B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LUIN5B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LUIN5B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LUIN5B Lynch syndrome 2B90.Y Orphanet 144 TPD-LUIN5B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LUIN5B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LUKTQV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LUKTQV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LUM1TR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LUPK2L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LUPK2L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LUPK2L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LUQE9D Weaver syndrome LD2C Orphanet 3447 TPD-LUSJ2N Noonan syndrome LD2F.15 Orphanet 648 TPD-LUSJ2N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LUSJ2N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LUSJ2N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LUSJ2N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LUSJ2N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LUSJ2N Lynch syndrome 2B90.Y Orphanet 144 TPD-LUSJ2N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LUSJ2N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LUSK24 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LUSK24 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LUSK24 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LUU7DQ Noonan syndrome LD2F.15 Orphanet 648 TPD-LUU7DQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LUU7DQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LUU7DQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LUU7DQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LUU7DQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LUU7DQ Lynch syndrome 2B90.Y Orphanet 144 TPD-LUU7DQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LUU7DQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LUU8YJ Kennedy disease 8B61.4 Orphanet 481 TPD-LUU8YJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LUU8YJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LUU8YJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LUX9WQ Kennedy disease 8B61.4 Orphanet 481 TPD-LUX9WQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LUX9WQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LUX9WQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LUXO0O Kennedy disease 8B61.4 Orphanet 481 TPD-LUXO0O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LUXO0O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LUXO0O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LUY8W2 Kennedy disease 8B61.4 Orphanet 481 TPD-LUY8W2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LUY8W2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LUY8W2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LV0ZO0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LV0ZO0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LV0ZO0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LV9161 Kennedy disease 8B61.4 Orphanet 481 TPD-LV9161 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LV9161 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LV9161 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVDNZT Noonan syndrome LD2F.15 Orphanet 648 TPD-LVDNZT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LVDNZT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LVDNZT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LVDNZT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LVDNZT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LVDNZT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LVDNZT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LVDNZT Craniopharyngioma 2F9A Orphanet 54595 TPD-LVDNZT Cushing disease 5A70.0 Orphanet 96253 TPD-LVGC2R Kennedy disease 8B61.4 Orphanet 481 TPD-LVGC2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LVGC2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LVGC2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVHC1P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LVJ21R Kennedy disease 8B61.4 Orphanet 481 TPD-LVJ21R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LVJ21R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LVJ21R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVJZX7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LVJZX7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LVLJJU Noonan syndrome LD2F.15 Orphanet 648 TPD-LVLJJU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LVLJJU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LVLJJU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LVLJJU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LVLJJU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LVLJJU Lynch syndrome 2B90.Y Orphanet 144 TPD-LVLJJU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LVLJJU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LVMLQV Kennedy disease 8B61.4 Orphanet 481 TPD-LVMLQV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LVMLQV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LVMLQV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVMU3U Kennedy disease 8B61.4 Orphanet 481 TPD-LVMU3U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LVMU3U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LVMU3U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVN80C Noonan syndrome LD2F.15 Orphanet 648 TPD-LVN80C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LVN80C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LVN80C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LVN80C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LVN80C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LVN80C Lynch syndrome 2B90.Y Orphanet 144 TPD-LVN80C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LVN80C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LVNKCZ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-LVOUPR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LVOUPR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LVS4IN Kennedy disease 8B61.4 Orphanet 481 TPD-LVS4IN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LVS4IN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LVS4IN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LVUGMB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LVXERQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LVYT85 Noonan syndrome LD2F.15 Orphanet 648 TPD-LVYT85 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LVYT85 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LVYT85 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LVYT85 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LVYT85 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LVYT85 Lynch syndrome 2B90.Y Orphanet 144 TPD-LVYT85 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LVYT85 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LW0Z0B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LW3U3Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LW3U3Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LW3U3Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LW3U3Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LW7PLC Noonan syndrome LD2F.15 Orphanet 648 TPD-LW7PLC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LW7PLC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LW7PLC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LW7PLC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LW7PLC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LW7PLC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LW7PLC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LW7PLC Craniopharyngioma 2F9A Orphanet 54595 TPD-LW7PLC Cushing disease 5A70.0 Orphanet 96253 TPD-LW96MO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-LW96MO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LW96MO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LW96MO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LW96MO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LW96MO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LW96MO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LW96MO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LW96MO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LWBF3Q Kennedy disease 8B61.4 Orphanet 481 TPD-LWBF3Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LWBF3Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LWBF3Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LWBS8J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LWCEBJ Noonan syndrome LD2F.15 Orphanet 648 TPD-LWCEBJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LWCEBJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWCEBJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LWCEBJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWCEBJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LWCEBJ Lynch syndrome 2B90.Y Orphanet 144 TPD-LWCEBJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LWCEBJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LWCPWP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LWCPWP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LWCRR6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LWD5RA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-LWEP3Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LWEP3Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LWEP3Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LWEP3Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LWFR2C Kennedy disease 8B61.4 Orphanet 481 TPD-LWFR2C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LWFR2C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LWFR2C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LWKZJX Noonan syndrome LD2F.15 Orphanet 648 TPD-LWKZJX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LWKZJX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWKZJX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LWKZJX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWKZJX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LWKZJX Lynch syndrome 2B90.Y Orphanet 144 TPD-LWKZJX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LWKZJX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LWL38I Kennedy disease 8B61.4 Orphanet 481 TPD-LWL38I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LWL38I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LWL38I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LWM151 Noonan syndrome LD2F.15 Orphanet 648 TPD-LWM151 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LWM151 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWM151 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LWM151 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWM151 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LWM151 Lynch syndrome 2B90.Y Orphanet 144 TPD-LWM151 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LWM151 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LWMNJB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LWMNJB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LWMNJB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LWMNJB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-LWRHOS Noonan syndrome LD2F.15 Orphanet 648 TPD-LWRHOS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LWRHOS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWRHOS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LWRHOS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWRHOS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LWRHOS Lynch syndrome 2B90.Y Orphanet 144 TPD-LWRHOS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LWRHOS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LWVJXI Noonan syndrome LD2F.15 Orphanet 648 TPD-LWVJXI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-LWVJXI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-LWVJXI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWVJXI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWVJXI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-LWVJXI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-LWVJXI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-LWVJXI Craniopharyngioma 2F9A Orphanet 54595 TPD-LWVJXI Cushing disease 5A70.0 Orphanet 96253 TPD-LWVWC2 Familial melanoma QC61.Y Orphanet 618 TPD-LWVWC2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LWYZO6 Noonan syndrome LD2F.15 Orphanet 648 TPD-LWYZO6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LWYZO6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LWYZO6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LWYZO6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LWYZO6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LWYZO6 Lynch syndrome 2B90.Y Orphanet 144 TPD-LWYZO6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LWYZO6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LX7OJJ X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-LXE4UH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LXH1GH Familial melanoma QC61.Y Orphanet 618 TPD-LXH1GH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LXK3SK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LXKDST Kennedy disease 8B61.4 Orphanet 481 TPD-LXKDST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LXKDST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LXKDST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LXN3ED Kennedy disease 8B61.4 Orphanet 481 TPD-LXN3ED Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LXN3ED Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LXN3ED Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LXQ3YW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-LXQ3YW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-LXQ3YW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-LXQ3YW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-LXQ3YW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-LXQ3YW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-LXQ3YW Semantic dementia 6D83 Orphanet 100069 TPD-LXQ3YW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-LXQJ8H Kennedy disease 8B61.4 Orphanet 481 TPD-LXQJ8H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LXQJ8H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LXQJ8H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LXUNFJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LXV9LC Familial melanoma QC61.Y Orphanet 618 TPD-LXV9LC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LXX6YL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LXXUF9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LXZ8BM Kennedy disease 8B61.4 Orphanet 481 TPD-LXZ8BM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LXZ8BM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LXZ8BM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LY0XN2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LY1YMZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LY1YMZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LY1YMZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LY3URD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-LY3URD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-LY4LCY Kennedy disease 8B61.4 Orphanet 481 TPD-LY4LCY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LY4LCY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LY4LCY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LY5K5Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LY5K5Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LY5K5Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LY70KV Weaver syndrome LD2C Orphanet 3447 TPD-LY8IBF Noonan syndrome LD2F.15 Orphanet 648 TPD-LY8IBF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LY8IBF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LY8IBF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LY8IBF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LY8IBF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LY8IBF Lynch syndrome 2B90.Y Orphanet 144 TPD-LY8IBF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LY8IBF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LY8S6I Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-LY8S6I Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LY8S6I Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LY8S6I Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LY8S6I Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LY8S6I Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LY8S6I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LY8S6I Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LY8S6I Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LY903Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LY903Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LY903Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LYB14X Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-LYB14X Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LYB14X Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LYB14X Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LYB14X Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LYB14X Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LYB14X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LYB14X Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LYB14X Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LYCMCS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LYDAOT Kennedy disease 8B61.4 Orphanet 481 TPD-LYDAOT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LYDAOT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LYDAOT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LYIZ2I Familial melanoma QC61.Y Orphanet 618 TPD-LYIZ2I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-LYLY37 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LYM1Q8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-LYMSIW Kennedy disease 8B61.4 Orphanet 481 TPD-LYMSIW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LYMSIW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LYMSIW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LYPY63 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LYQNLP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-LYQNLP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-LYQNLP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-LYU1O5 Noonan syndrome LD2F.15 Orphanet 648 TPD-LYU1O5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-LYU1O5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-LYU1O5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-LYU1O5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-LYU1O5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-LYU1O5 Lynch syndrome 2B90.Y Orphanet 144 TPD-LYU1O5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-LYU1O5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-LYUIW8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LYZRH0 Kennedy disease 8B61.4 Orphanet 481 TPD-LYZRH0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LYZRH0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LYZRH0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LZ94CC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-LZDYM6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LZDYM6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LZGYSE Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-LZGYSE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LZGYSE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-LZGYSE Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-LZGYSE MODY 5A13.6 Orphanet 552 TPD-LZGYSE Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-LZGYSE Williams syndrome LD44.70 Orphanet 904 TPD-LZGYSE Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-LZHFBW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LZHFBW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LZHFBW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LZJKYN Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-LZKFVO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-LZKFVO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-LZKFVO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-LZKLDD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LZKLDD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LZLTCM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LZLTCM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-LZPNVU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-LZQJNN Kennedy disease 8B61.4 Orphanet 481 TPD-LZQJNN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LZQJNN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LZQJNN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LZR6HD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-LZR6HD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-LZTK5B Kennedy disease 8B61.4 Orphanet 481 TPD-LZTK5B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-LZTK5B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-LZTK5B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-LZUCUZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-LZUE4Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-LZUE4Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-LZUE4Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LZUE4Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M040VP Kennedy disease 8B61.4 Orphanet 481 TPD-M040VP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M040VP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M040VP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M09Q78 Kennedy disease 8B61.4 Orphanet 481 TPD-M09Q78 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M09Q78 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M09Q78 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M0JSG5 Familial melanoma QC61.Y Orphanet 618 TPD-M0JSG5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M0KLYQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M0KLYQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M0KLYQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M0KVMJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M0KVMJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M0LLOS Noonan syndrome LD2F.15 Orphanet 648 TPD-M0LLOS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M0LLOS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M0LLOS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M0LLOS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M0LLOS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M0LLOS Lynch syndrome 2B90.Y Orphanet 144 TPD-M0LLOS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M0LLOS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M0M92M Kennedy disease 8B61.4 Orphanet 481 TPD-M0M92M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M0M92M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M0M92M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M0N1Q1 Kennedy disease 8B61.4 Orphanet 481 TPD-M0N1Q1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M0N1Q1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M0N1Q1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M0OTX5 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-M0OTX5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-M0OTX5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-M0QV7C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M0QV7C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M0QV7C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M0SGX1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M0SGX1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M0SGX1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M0T594 Noonan syndrome LD2F.15 Orphanet 648 TPD-M0T594 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M0T594 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M0T594 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M0T594 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M0T594 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M0T594 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M0T594 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M0T594 Craniopharyngioma 2F9A Orphanet 54595 TPD-M0T594 Cushing disease 5A70.0 Orphanet 96253 TPD-M0VNUB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M0VNUB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M0XMXW Noonan syndrome LD2F.15 Orphanet 648 TPD-M0XMXW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M0XMXW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M0XMXW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M0XMXW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M0XMXW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M0XMXW Lynch syndrome 2B90.Y Orphanet 144 TPD-M0XMXW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M0XMXW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M0XWWQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M0XWWQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M1666B Noonan syndrome LD2F.15 Orphanet 648 TPD-M1666B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M1666B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M1666B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M1666B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M1666B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M1666B Lynch syndrome 2B90.Y Orphanet 144 TPD-M1666B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M1666B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M1BK2B Familial melanoma QC61.Y Orphanet 618 TPD-M1BK2B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M1COCA Kennedy disease 8B61.4 Orphanet 481 TPD-M1COCA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M1COCA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M1COCA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M1E34D Noonan syndrome LD2F.15 Orphanet 648 TPD-M1E34D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M1E34D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M1E34D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M1E34D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M1E34D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M1E34D Lynch syndrome 2B90.Y Orphanet 144 TPD-M1E34D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M1E34D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M1ES4W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-M1H692 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M1H692 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M1H692 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M1HCCT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M1J15I Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-M1J15I Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-M1J15I Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-M1J15I Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-M1J15I Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-M1J15I Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-M1J15I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M1J15I Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-M1J15I Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-M1JCZW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-M1JCZW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-M1JCZW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-M1JCZW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-M1JCZW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-M1JCZW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-M1JCZW Semantic dementia 6D83 Orphanet 100069 TPD-M1JCZW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-M1JZK5 Kennedy disease 8B61.4 Orphanet 481 TPD-M1JZK5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M1JZK5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M1JZK5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M1L08G Noonan syndrome LD2F.15 Orphanet 648 TPD-M1L08G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M1L08G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M1L08G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M1L08G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M1L08G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M1L08G Lynch syndrome 2B90.Y Orphanet 144 TPD-M1L08G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M1L08G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M1MG4H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M1PIS0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M1PIS0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M1PIS0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M1PIS0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M1PIS0 Neuroblastoma 2A00.11 Orphanet 635 TPD-M1PIS0 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-M1PIS0 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-M1PIS0 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-M1PIS0 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-M1R6IF Noonan syndrome LD2F.15 Orphanet 648 TPD-M1R6IF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M1R6IF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M1R6IF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M1R6IF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M1R6IF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M1R6IF Lynch syndrome 2B90.Y Orphanet 144 TPD-M1R6IF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M1R6IF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M1RAOG Familial melanoma QC61.Y Orphanet 618 TPD-M1RAOG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M1RH5P Familial melanoma QC61.Y Orphanet 618 TPD-M1RH5P Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M1TPPK Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-M1VYNH Noonan syndrome LD2F.15 Orphanet 648 TPD-M1VYNH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M1VYNH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M1VYNH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M1VYNH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M1VYNH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M1VYNH Lynch syndrome 2B90.Y Orphanet 144 TPD-M1VYNH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M1VYNH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M1W0PX Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-M1W0PX Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-M1X10P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M1X10P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M1X10P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M23T2V Kennedy disease 8B61.4 Orphanet 481 TPD-M23T2V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M23T2V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M23T2V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M2618D Noonan syndrome LD2F.15 Orphanet 648 TPD-M2618D Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-M26UBN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M26UBN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M26UBN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M28UEJ Noonan syndrome LD2F.15 Orphanet 648 TPD-M28UEJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M28UEJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M28UEJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M28UEJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M28UEJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M28UEJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M28UEJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M28UEJ Craniopharyngioma 2F9A Orphanet 54595 TPD-M28UEJ Cushing disease 5A70.0 Orphanet 96253 TPD-M2A45A Noonan syndrome LD2F.15 Orphanet 648 TPD-M2A45A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M2A45A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M2A45A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M2A45A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M2A45A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M2A45A Lynch syndrome 2B90.Y Orphanet 144 TPD-M2A45A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M2A45A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M2BU7J Kennedy disease 8B61.4 Orphanet 481 TPD-M2BU7J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M2BU7J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M2BU7J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M2F6CY Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-M2F6CY Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-M2H8YC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M2H8YC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M2ID1P Noonan syndrome LD2F.15 Orphanet 648 TPD-M2ID1P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M2ID1P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M2ID1P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M2ID1P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M2ID1P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M2ID1P Lynch syndrome 2B90.Y Orphanet 144 TPD-M2ID1P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M2ID1P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M2KCK6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M2M31O Noonan syndrome LD2F.15 Orphanet 648 TPD-M2M31O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M2M31O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M2M31O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M2M31O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M2M31O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M2M31O Lynch syndrome 2B90.Y Orphanet 144 TPD-M2M31O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M2M31O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M2PC56 Noonan syndrome LD2F.15 Orphanet 648 TPD-M2PC56 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M2PC56 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M2PC56 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M2PC56 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M2PC56 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M2PC56 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M2PC56 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M2PC56 Craniopharyngioma 2F9A Orphanet 54595 TPD-M2PC56 Cushing disease 5A70.0 Orphanet 96253 TPD-M2UBBT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M2UBBT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M2UBBT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M2UBBT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M341KS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M39BDS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M39O3U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M39O3U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M39O3U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M39O3U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M39XEV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-M3BICE Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-M3BN7S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M3BN7S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M3BN7S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M3DDCU Kennedy disease 8B61.4 Orphanet 481 TPD-M3DDCU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M3DDCU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M3DDCU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M3DVJO Kennedy disease 8B61.4 Orphanet 481 TPD-M3DVJO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M3DVJO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M3DVJO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M3FYRC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M3FYRC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M3FYRC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M3IER9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M3IER9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M3IER9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M3IER9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M3LJ7O Kennedy disease 8B61.4 Orphanet 481 TPD-M3LJ7O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M3LJ7O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M3LJ7O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M3O4WU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M3O4WU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M3O4WU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M3S1AU CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-M3TK88 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M3UQ80 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M3UQ80 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M3UQ80 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M3VZ4O Noonan syndrome LD2F.15 Orphanet 648 TPD-M3VZ4O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M3VZ4O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M3VZ4O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M3VZ4O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M3VZ4O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M3VZ4O Lynch syndrome 2B90.Y Orphanet 144 TPD-M3VZ4O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M3VZ4O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M3WGMV Kennedy disease 8B61.4 Orphanet 481 TPD-M3WGMV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M3WGMV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M3WGMV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M3ZHTA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M3ZHTA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M3ZHTA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M40UBE Noonan syndrome LD2F.15 Orphanet 648 TPD-M40UBE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M40UBE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M40UBE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M40UBE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M40UBE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M40UBE Lynch syndrome 2B90.Y Orphanet 144 TPD-M40UBE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M40UBE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M412GS Kennedy disease 8B61.4 Orphanet 481 TPD-M412GS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M412GS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M412GS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M428I7 Kennedy disease 8B61.4 Orphanet 481 TPD-M428I7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M428I7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M428I7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M43OQ2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M43OQ2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M43OQ2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M43WNR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M43WNR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M45JMI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-M47CO1 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-M47V28 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M47V28 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M47V28 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M4DX06 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-M4E1VB Noonan syndrome LD2F.15 Orphanet 648 TPD-M4E1VB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M4E1VB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M4E1VB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M4E1VB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M4E1VB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M4E1VB Lynch syndrome 2B90.Y Orphanet 144 TPD-M4E1VB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M4E1VB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M4EOEU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M4EOEU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M4EOEU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M4I42F Noonan syndrome LD2F.15 Orphanet 648 TPD-M4I42F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M4I42F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M4I42F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M4I42F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M4I42F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M4I42F Lynch syndrome 2B90.Y Orphanet 144 TPD-M4I42F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M4I42F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M4T1P8 Familial melanoma QC61.Y Orphanet 618 TPD-M4T1P8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M4T684 Noonan syndrome LD2F.15 Orphanet 648 TPD-M4T684 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M4T684 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M4T684 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M4T684 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M4T684 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M4T684 Lynch syndrome 2B90.Y Orphanet 144 TPD-M4T684 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M4T684 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M4X58N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-M4X58N Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-M4X58N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-M4YOX2 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-M4YOX2 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-M4YOX2 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-M4YOX2 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-M4YOX2 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-M4YOX2 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-M4YOX2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M4YOX2 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-M4YOX2 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-M503EE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M503EE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-M51XQN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-M53XSE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M53XSE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M53XSE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M53XSE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M562JE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M562JE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M562JE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M5B3KS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-M5E79H Kennedy disease 8B61.4 Orphanet 481 TPD-M5E79H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M5E79H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M5E79H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M5ET5J Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-M5ET5J Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-M5ET5J Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-M5ET5J Distal myopathy, Welander type 8C75 Orphanet 603 TPD-M5IVPA Kennedy disease 8B61.4 Orphanet 481 TPD-M5IVPA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M5IVPA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M5IVPA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M5KHGW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-M5KNNR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M5KNNR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M5KNNR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M5KNNR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M5N0E6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M5N0E6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-M5O58Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M5O58Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M5RNR8 Noonan syndrome LD2F.15 Orphanet 648 TPD-M5RNR8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M5RNR8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M5RNR8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M5RNR8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M5RNR8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M5RNR8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M5RNR8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M5RNR8 Craniopharyngioma 2F9A Orphanet 54595 TPD-M5RNR8 Cushing disease 5A70.0 Orphanet 96253 TPD-M5S3ZW Kennedy disease 8B61.4 Orphanet 481 TPD-M5S3ZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M5S3ZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M5S3ZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M5T0BF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M5T0BF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M5T0BF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M5USCD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M5WJL5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M5YQ3Z Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-M5ZB2F Kennedy disease 8B61.4 Orphanet 481 TPD-M5ZB2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M5ZB2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M5ZB2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M6062I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M6062I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M6062I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M6062I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M62PS6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M66T4O Noonan syndrome LD2F.15 Orphanet 648 TPD-M66T4O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M66T4O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M66T4O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M66T4O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M66T4O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M66T4O Lynch syndrome 2B90.Y Orphanet 144 TPD-M66T4O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M66T4O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M674SG Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-M674SG Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 5C51.3 Orphanet 284435 TPD-M67VON Kennedy disease 8B61.4 Orphanet 481 TPD-M67VON Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M67VON Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M67VON Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M6AH5J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-M6FBS8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-M6IC9R Familial melanoma QC61.Y Orphanet 618 TPD-M6IC9R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M6JG3S Kennedy disease 8B61.4 Orphanet 481 TPD-M6JG3S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M6JG3S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M6JG3S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M6LR59 Kennedy disease 8B61.4 Orphanet 481 TPD-M6LR59 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M6LR59 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M6LR59 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M6NUG3 Kennedy disease 8B61.4 Orphanet 481 TPD-M6NUG3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M6NUG3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M6NUG3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M6OKLE Lennox-Gastaut syndrome 8A62.1 Orphanet 2382 TPD-M6QBAI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M6QBAI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M6QBAI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M6WNU5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M6WNU5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M6WNU5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M6WSGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-M6WSGZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M6WSGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M6WSGZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M6WSGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M6WSGZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M6WSGZ Lynch syndrome 2B90.Y Orphanet 144 TPD-M6WSGZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M6WSGZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M6Z05C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M6Z05C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M6Z05C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M6ZD3R Noonan syndrome LD2F.15 Orphanet 648 TPD-M6ZD3R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M6ZD3R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M6ZD3R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M6ZD3R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M6ZD3R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M6ZD3R Lynch syndrome 2B90.Y Orphanet 144 TPD-M6ZD3R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M6ZD3R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M750NL Kennedy disease 8B61.4 Orphanet 481 TPD-M750NL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M750NL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M750NL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M75T8G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M77R0A Kennedy disease 8B61.4 Orphanet 481 TPD-M77R0A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M77R0A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M77R0A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M7ADE7 Kennedy disease 8B61.4 Orphanet 481 TPD-M7ADE7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M7ADE7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M7ADE7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M7CKYX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-M7HUR1 Kennedy disease 8B61.4 Orphanet 481 TPD-M7HUR1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M7HUR1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M7HUR1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M7HZCU Noonan syndrome LD2F.15 Orphanet 648 TPD-M7HZCU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M7HZCU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M7HZCU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M7HZCU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M7HZCU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M7HZCU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M7HZCU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M7HZCU Craniopharyngioma 2F9A Orphanet 54595 TPD-M7HZCU Cushing disease 5A70.0 Orphanet 96253 TPD-M7J39M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M7J39M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M7J39M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M7J39M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M7JRJL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M7JRJL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M7JRJL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M7OYXZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-M7OYXZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-M7OYXZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-M7OYXZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-M7OYXZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-M7OYXZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-M7OYXZ Semantic dementia 6D83 Orphanet 100069 TPD-M7OYXZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-M7SCZQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M7SCZQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M7SCZQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M7V4GI Kennedy disease 8B61.4 Orphanet 481 TPD-M7V4GI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M7V4GI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M7V4GI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M7VOO6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-M7W2EB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M7W2EB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-M7WNDA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M7WNDA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M7WNDA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M7XOMQ Kennedy disease 8B61.4 Orphanet 481 TPD-M7XOMQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M7XOMQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M7XOMQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M80ZVC Familial melanoma QC61.Y Orphanet 618 TPD-M80ZVC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M82A8O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M82A8O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M82A8O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M854WR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M854WR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M854WR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M8BFF7 Noonan syndrome LD2F.15 Orphanet 648 TPD-M8BFF7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M8BFF7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M8BFF7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M8BFF7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M8BFF7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M8BFF7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M8BFF7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M8BFF7 Craniopharyngioma 2F9A Orphanet 54595 TPD-M8BFF7 Cushing disease 5A70.0 Orphanet 96253 TPD-M8C01N Noonan syndrome LD2F.15 Orphanet 648 TPD-M8C01N Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-M8EMZ6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M8EMZ6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M8EMZ6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M8EMZ6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M8K59N Kennedy disease 8B61.4 Orphanet 481 TPD-M8K59N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M8K59N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M8K59N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M8M55G Kennedy disease 8B61.4 Orphanet 481 TPD-M8M55G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M8M55G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M8M55G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M8MBMU Kennedy disease 8B61.4 Orphanet 481 TPD-M8MBMU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M8MBMU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M8MBMU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M8NHYO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M8R4C4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-M8S85Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M8S85Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M8S85Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M8S85Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M8SMX8 Noonan syndrome LD2F.15 Orphanet 648 TPD-M8SMX8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M8SMX8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M8SMX8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M8SMX8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M8SMX8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M8SMX8 Lynch syndrome 2B90.Y Orphanet 144 TPD-M8SMX8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M8SMX8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M8T7KA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M8T7KA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M8T7KA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M9055D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M9055D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-M91XIQ Kennedy disease 8B61.4 Orphanet 481 TPD-M91XIQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M91XIQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M91XIQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M93NGC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-M93NGC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-M93NGC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-M979RI Kennedy disease 8B61.4 Orphanet 481 TPD-M979RI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M979RI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M979RI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M97AYN Familial melanoma QC61.Y Orphanet 618 TPD-M97AYN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M9EPDY Familial melanoma QC61.Y Orphanet 618 TPD-M9EPDY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M9ETRP Noonan syndrome LD2F.15 Orphanet 648 TPD-M9ETRP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M9ETRP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M9ETRP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M9ETRP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M9ETRP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M9ETRP Lynch syndrome 2B90.Y Orphanet 144 TPD-M9ETRP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M9ETRP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M9G98Z Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-M9G98Z Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-M9G98Z Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-M9GKJA Noonan syndrome LD2F.15 Orphanet 648 TPD-M9GKJA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-M9GKJA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-M9GKJA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M9GKJA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M9GKJA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-M9GKJA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-M9GKJA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-M9GKJA Craniopharyngioma 2F9A Orphanet 54595 TPD-M9GKJA Cushing disease 5A70.0 Orphanet 96253 TPD-M9HC1K Familial melanoma QC61.Y Orphanet 618 TPD-M9HC1K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-M9I6ZI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-M9I6ZI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-M9IZ0B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-M9IZ0B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-M9IZ0B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-M9IZ0B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-M9LBJB Noonan syndrome LD2F.15 Orphanet 648 TPD-M9LBJB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M9LBJB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M9LBJB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M9LBJB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M9LBJB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M9LBJB Lynch syndrome 2B90.Y Orphanet 144 TPD-M9LBJB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M9LBJB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M9MYAZ Kennedy disease 8B61.4 Orphanet 481 TPD-M9MYAZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M9MYAZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M9MYAZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M9N7BW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-M9N91P Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-M9N91P Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-M9N91P Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-M9N91P Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-M9N91P Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-M9N91P Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-M9N91P Semantic dementia 6D83 Orphanet 100069 TPD-M9N91P Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-M9OFH8 Noonan syndrome LD2F.15 Orphanet 648 TPD-M9OFH8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-M9OFH8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-M9OFH8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-M9OFH8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-M9OFH8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-M9OFH8 Lynch syndrome 2B90.Y Orphanet 144 TPD-M9OFH8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-M9OFH8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-M9VI1N Kennedy disease 8B61.4 Orphanet 481 TPD-M9VI1N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-M9VI1N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-M9VI1N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-M9WGF6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-M9WGF6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MA2EN6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MA2EN6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MA2EN6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MA3RTR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MA3RTR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MA3RTR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MA9MKF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MA9RFQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MA9RFQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MAI1TP Familial melanoma QC61.Y Orphanet 618 TPD-MAI1TP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MAPIRP Noonan syndrome LD2F.15 Orphanet 648 TPD-MAPIRP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MAPIRP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MAPIRP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MAPIRP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MAPIRP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MAPIRP Lynch syndrome 2B90.Y Orphanet 144 TPD-MAPIRP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MAPIRP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MASG9L Noonan syndrome LD2F.15 Orphanet 648 TPD-MASG9L Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-MAT2X5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MAVBMH Kennedy disease 8B61.4 Orphanet 481 TPD-MAVBMH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MAVBMH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MAVBMH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MAXBTD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MAXBTD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MAXBTD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MAXBTD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MB0ESI Kennedy disease 8B61.4 Orphanet 481 TPD-MB0ESI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MB0ESI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MB0ESI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MB0OI8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MB1J7X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MB1J7X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MB1J7X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MB22AB Kennedy disease 8B61.4 Orphanet 481 TPD-MB22AB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MB22AB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MB22AB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MB2UYU Noonan syndrome LD2F.15 Orphanet 648 TPD-MB2UYU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MB2UYU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MB2UYU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MB2UYU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MB2UYU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MB2UYU Lynch syndrome 2B90.Y Orphanet 144 TPD-MB2UYU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MB2UYU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MB5N18 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-MB5N18 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-MB5N18 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-MB718M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MB718M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MB718M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MB718M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MB7E1T Kennedy disease 8B61.4 Orphanet 481 TPD-MB7E1T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MB7E1T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MB7E1T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MBD87A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MBDEJB Kennedy disease 8B61.4 Orphanet 481 TPD-MBDEJB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MBDEJB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MBDEJB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MBDGO9 Noonan syndrome LD2F.15 Orphanet 648 TPD-MBDGO9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MBDGO9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MBDGO9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MBDGO9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MBDGO9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MBDGO9 Lynch syndrome 2B90.Y Orphanet 144 TPD-MBDGO9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MBDGO9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MBF71D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MBF71D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MBF71D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MBF71D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MBG2D1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MBHNO7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MBHNO7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MBP99X Noonan syndrome LD2F.15 Orphanet 648 TPD-MBP99X Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MBP99X Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MBP99X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MBP99X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MBP99X Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MBP99X Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MBP99X Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MBP99X Craniopharyngioma 2F9A Orphanet 54595 TPD-MBP99X Cushing disease 5A70.0 Orphanet 96253 TPD-MBQJ41 Kennedy disease 8B61.4 Orphanet 481 TPD-MBQJ41 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MBQJ41 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MBQJ41 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MBSF5Q Kennedy disease 8B61.4 Orphanet 481 TPD-MBSF5Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MBSF5Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MBSF5Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MBTT57 Kennedy disease 8B61.4 Orphanet 481 TPD-MBTT57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MBTT57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MBTT57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MBUN8B Noonan syndrome LD2F.15 Orphanet 648 TPD-MBUN8B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MBUN8B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MBUN8B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MBUN8B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MBUN8B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MBUN8B Lynch syndrome 2B90.Y Orphanet 144 TPD-MBUN8B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MBUN8B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MBYBZ8 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MBYBZ8 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MBYBZ8 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MBYBZ8 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MBYBZ8 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MBYBZ8 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MBYBZ8 Semantic dementia 6D83 Orphanet 100069 TPD-MBYBZ8 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MBZST2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MC1YAR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MC1YAR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MC1YAR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MC38UA Familial melanoma QC61.Y Orphanet 618 TPD-MC38UA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MCDDBC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MCDDBC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MCDFQT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MCDFQT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MCEM0I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MCEM0I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MCEM0I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MCHKPD Kennedy disease 8B61.4 Orphanet 481 TPD-MCHKPD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MCHKPD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MCHKPD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MCICQE Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-MCICQE MODY 5A13.6 Orphanet 552 TPD-MCICQE Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-MCICQE Williams syndrome LD44.70 Orphanet 904 TPD-MCICQE Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-MCJR4J 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-MCKVNF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MCKVNF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MCKVNF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MCNNXX Kennedy disease 8B61.4 Orphanet 481 TPD-MCNNXX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MCNNXX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MCNNXX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MCOMT8 Noonan syndrome LD2F.15 Orphanet 648 TPD-MCOMT8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MCOMT8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MCOMT8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MCOMT8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MCOMT8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MCOMT8 Lynch syndrome 2B90.Y Orphanet 144 TPD-MCOMT8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MCOMT8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MCPENM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MCPENM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MCTKAI Kennedy disease 8B61.4 Orphanet 481 TPD-MCTKAI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MCTKAI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MCTKAI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MCTUFI Noonan syndrome LD2F.15 Orphanet 648 TPD-MCTUFI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MCTUFI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MCTUFI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MCTUFI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MCTUFI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MCTUFI Lynch syndrome 2B90.Y Orphanet 144 TPD-MCTUFI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MCTUFI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MCUL71 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MCV9KL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MCV9KL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MCV9KL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MCVRZX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MCXL31 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MD1OPV Noonan syndrome LD2F.15 Orphanet 648 TPD-MD1OPV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MD1OPV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MD1OPV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MD1OPV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MD1OPV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MD1OPV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MD1OPV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MD1OPV Craniopharyngioma 2F9A Orphanet 54595 TPD-MD1OPV Cushing disease 5A70.0 Orphanet 96253 TPD-MD35ZD Noonan syndrome LD2F.15 Orphanet 648 TPD-MD35ZD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MD35ZD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MD35ZD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MD35ZD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MD35ZD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MD35ZD Lynch syndrome 2B90.Y Orphanet 144 TPD-MD35ZD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MD35ZD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MD4GIX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MD64ZQ Familial melanoma QC61.Y Orphanet 618 TPD-MD64ZQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MD79PH Kennedy disease 8B61.4 Orphanet 481 TPD-MD79PH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MD79PH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MD79PH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MD8N64 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MD8N64 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MD8Y7Q Noonan syndrome LD2F.15 Orphanet 648 TPD-MD8Y7Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MD8Y7Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MD8Y7Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MD8Y7Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MD8Y7Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MD8Y7Q Lynch syndrome 2B90.Y Orphanet 144 TPD-MD8Y7Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MD8Y7Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MDBTLB Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MDBTLB Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MDEWGH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MDHIG0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MDHIG0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MDHIG0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MDNC7S Kennedy disease 8B61.4 Orphanet 481 TPD-MDNC7S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MDNC7S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MDNC7S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MDR8I6 Kennedy disease 8B61.4 Orphanet 481 TPD-MDR8I6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MDR8I6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MDR8I6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MDS052 Kennedy disease 8B61.4 Orphanet 481 TPD-MDS052 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MDS052 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MDS052 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MDTODL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MDTODL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MDTODL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MDU194 Noonan syndrome LD2F.15 Orphanet 648 TPD-MDU194 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MDU194 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MDU194 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MDU194 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MDU194 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MDU194 Lynch syndrome 2B90.Y Orphanet 144 TPD-MDU194 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MDU194 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MDVLC2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MDVLC2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MDYB3J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MDYB3J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MDYB3J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MDYB3J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ME0BUQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ME0BUQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ME0BUQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ME0BUQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ME1ITT Noonan syndrome LD2F.15 Orphanet 648 TPD-ME1ITT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ME1ITT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ME1ITT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ME1ITT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ME1ITT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ME1ITT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ME1ITT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ME1ITT Craniopharyngioma 2F9A Orphanet 54595 TPD-ME1ITT Cushing disease 5A70.0 Orphanet 96253 TPD-ME4V7F Kennedy disease 8B61.4 Orphanet 481 TPD-ME4V7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ME4V7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ME4V7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MEBAXC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MEBAXC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MEBAXC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MEF8UV Noonan syndrome LD2F.15 Orphanet 648 TPD-MEF8UV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MEF8UV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MEF8UV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MEF8UV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MEF8UV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MEF8UV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MEF8UV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MEF8UV Craniopharyngioma 2F9A Orphanet 54595 TPD-MEF8UV Cushing disease 5A70.0 Orphanet 96253 TPD-MEG385 Kennedy disease 8B61.4 Orphanet 481 TPD-MEG385 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MEG385 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MEG385 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MEK3NP Noonan syndrome LD2F.15 Orphanet 648 TPD-MEK3NP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MEK3NP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MEK3NP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MEK3NP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MEK3NP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MEK3NP Lynch syndrome 2B90.Y Orphanet 144 TPD-MEK3NP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MEK3NP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MEKZAI Kennedy disease 8B61.4 Orphanet 481 TPD-MEKZAI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MEKZAI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MEKZAI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MEOIEU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MEOIEU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MEOIEU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MERCNF Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MESH75 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MESH75 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MESH75 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-METUDW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MEW03I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MEW03I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MEYHJR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MEYHJR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MEYUDF Kennedy disease 8B61.4 Orphanet 481 TPD-MEYUDF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MEYUDF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MEYUDF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MF2GJ9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MF2GJ9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MF3BG9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MF3BG9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MF3BG9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MF60RE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MF6BEJ Noonan syndrome LD2F.15 Orphanet 648 TPD-MF6BEJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MF6BEJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MF6BEJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MF6BEJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MF6BEJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MF6BEJ Lynch syndrome 2B90.Y Orphanet 144 TPD-MF6BEJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MF6BEJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MF6FMD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MF6FMD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MF6R8A Kennedy disease 8B61.4 Orphanet 481 TPD-MF6R8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MF6R8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MF6R8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MF9PU5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MFBB2C Noonan syndrome LD2F.15 Orphanet 648 TPD-MFBB2C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MFBB2C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MFBB2C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MFBB2C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MFBB2C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MFBB2C Lynch syndrome 2B90.Y Orphanet 144 TPD-MFBB2C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MFBB2C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MFGRFP Kennedy disease 8B61.4 Orphanet 481 TPD-MFGRFP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MFGRFP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MFGRFP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MFHM71 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MFN738 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MFOOV9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MFOOV9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MFOOV9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MFOOV9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MFQHIW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MFQHIW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MFR2Y3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MFTS0V Kennedy disease 8B61.4 Orphanet 481 TPD-MFTS0V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MFTS0V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MFTS0V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MG2WPK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MG2WPK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MG9U11 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MG9U11 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MG9U11 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MGBJWY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MGF68W Kennedy disease 8B61.4 Orphanet 481 TPD-MGF68W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MGF68W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MGF68W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MGJF31 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MGJF31 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MGJF31 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MGLLVN Familial melanoma QC61.Y Orphanet 618 TPD-MGLLVN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MGM5MJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MGM5MJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MGM5MJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MGM5MJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MGPBBL Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MGPBBL Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MGPBBL Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MGPBBL Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MGPBBL Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MGPBBL Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MGPBBL Semantic dementia 6D83 Orphanet 100069 TPD-MGPBBL Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MGPFI1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MGPFI1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MGPFI1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MGSMF2 Noonan syndrome LD2F.15 Orphanet 648 TPD-MGSMF2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MGSMF2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MGSMF2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MGSMF2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MGSMF2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MGSMF2 Lynch syndrome 2B90.Y Orphanet 144 TPD-MGSMF2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MGSMF2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MGSZWR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MGSZWR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MGSZWR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MGW94W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MGW94W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MGW9PQ Noonan syndrome LD2F.15 Orphanet 648 TPD-MGW9PQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MGW9PQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MGW9PQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MGW9PQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MGW9PQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MGW9PQ Lynch syndrome 2B90.Y Orphanet 144 TPD-MGW9PQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MGW9PQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MGZI1L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MGZI1L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MGZI1L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MGZU1G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MGZU1G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MGZU1G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MGZU1G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MH0OER Kennedy disease 8B61.4 Orphanet 481 TPD-MH0OER Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MH0OER Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MH0OER Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MH3BO1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MH3BO1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MH8ICL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MHCJI8 Familial melanoma QC61.Y Orphanet 618 TPD-MHCJI8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MHG1M6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MHG1M6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MHGEZ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-MHGEZ3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MHGEZ3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MHGEZ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MHGEZ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MHGEZ3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MHGEZ3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MHGEZ3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MHGEZ3 Craniopharyngioma 2F9A Orphanet 54595 TPD-MHGEZ3 Cushing disease 5A70.0 Orphanet 96253 TPD-MHKO23 Noonan syndrome LD2F.15 Orphanet 648 TPD-MHKO23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MHKO23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MHKO23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MHKO23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MHKO23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MHKO23 Lynch syndrome 2B90.Y Orphanet 144 TPD-MHKO23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MHKO23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MHPVST Kennedy disease 8B61.4 Orphanet 481 TPD-MHPVST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MHPVST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MHPVST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MHVKU8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MHVKU8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MHVKU8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MHW59Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MHW59Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MHW59Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MHW59Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MHZGNV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MHZGNV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MHZGNV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MHZGNV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MI118K Noonan syndrome LD2F.15 Orphanet 648 TPD-MI118K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MI118K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MI118K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MI118K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MI118K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MI118K Lynch syndrome 2B90.Y Orphanet 144 TPD-MI118K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MI118K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MI2ZR1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MI9NCI Kennedy disease 8B61.4 Orphanet 481 TPD-MI9NCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MI9NCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MI9NCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MIB1YX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MIB1YX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MICMW5 Kennedy disease 8B61.4 Orphanet 481 TPD-MICMW5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MICMW5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MICMW5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MIJ2Q5 Familial melanoma QC61.Y Orphanet 618 TPD-MIK67G Kennedy disease 8B61.4 Orphanet 481 TPD-MIK67G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MIK67G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MIK67G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MIP256 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MIPSV3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-MIS6NV Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-MIUKLQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MIUKLQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MIUKLQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MIUKLQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MIV4AP Hirschsprung disease LB16.1 Orphanet 388 TPD-MIV4AP Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-MIV4AP Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-MIV4Y4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MIV4Y4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MIV4Y4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MIVEQ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-MIVEQ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MIVEQ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MIVEQ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MIVEQ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MIVEQ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MIVEQ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-MIVEQ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MIVEQ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MIXG1P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MIYDQ8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MIYDQ8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MIYDQ8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MIZ4UB Noonan syndrome LD2F.15 Orphanet 648 TPD-MIZ4UB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MIZ4UB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MIZ4UB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MIZ4UB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MIZ4UB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MIZ4UB Lynch syndrome 2B90.Y Orphanet 144 TPD-MIZ4UB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MIZ4UB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MJ402P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MJ402P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MJ46CT Kennedy disease 8B61.4 Orphanet 481 TPD-MJ46CT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MJ46CT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MJ46CT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MJAUU1 Kennedy disease 8B61.4 Orphanet 481 TPD-MJAUU1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MJAUU1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MJAUU1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MJC0FN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MJC0FN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MJC0FN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MJGZMZ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MJGZMZ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MJKCGX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MJKCGX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MJM6BS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MJOBDM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-MJOZM4 Noonan syndrome LD2F.15 Orphanet 648 TPD-MJOZM4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MJOZM4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MJOZM4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MJOZM4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MJOZM4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MJOZM4 Lynch syndrome 2B90.Y Orphanet 144 TPD-MJOZM4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MJOZM4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MJQC9J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MJQC9J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MJQC9J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MJQC9J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MJQPPG Kennedy disease 8B61.4 Orphanet 481 TPD-MJQPPG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MJQPPG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MJQPPG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MJQPPG Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-MJQPPG Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-MJQPPG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MJQPPG Distal myopathy, Welander type 8C75 Orphanet 603 TPD-MJQT7A Noonan syndrome LD2F.15 Orphanet 648 TPD-MJQT7A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MJQT7A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MJQT7A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MJQT7A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MJQT7A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MJQT7A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MJQT7A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MJQT7A Craniopharyngioma 2F9A Orphanet 54595 TPD-MJQT7A Cushing disease 5A70.0 Orphanet 96253 TPD-MJRBPW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MJSFOH Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-MJTGYP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MJTGYP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MJZWXG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MJZWXG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MJZWXG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MK1ET4 Noonan syndrome LD2F.15 Orphanet 648 TPD-MK1ET4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MK1ET4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MK1ET4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MK1ET4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MK1ET4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MK1ET4 Lynch syndrome 2B90.Y Orphanet 144 TPD-MK1ET4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MK1ET4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MK2E99 Kennedy disease 8B61.4 Orphanet 481 TPD-MK2E99 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MK2E99 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MK2E99 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MK36YV Noonan syndrome LD2F.15 Orphanet 648 TPD-MK36YV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MK36YV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MK36YV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MK36YV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MK36YV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MK36YV Lynch syndrome 2B90.Y Orphanet 144 TPD-MK36YV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MK36YV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MK3J4I Kennedy disease 8B61.4 Orphanet 481 TPD-MK3J4I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MK3J4I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MK3J4I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MK3TY5 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-MK3TY5 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-MK3TY5 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-MK3TY5 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-MK3TY5 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-MK3TY5 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-MK3TY5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MK3TY5 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-MK3TY5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-MK69M5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MKARL5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MKCKZM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MKCKZM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MKCKZM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MKE75B Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-MKE75B Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-MKE75B Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-MKGNH2 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-MKICTL Noonan syndrome LD2F.15 Orphanet 648 TPD-MKICTL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MKICTL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MKICTL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MKICTL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MKICTL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MKICTL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MKICTL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MKICTL Craniopharyngioma 2F9A Orphanet 54595 TPD-MKICTL Cushing disease 5A70.0 Orphanet 96253 TPD-MKMLWZ Familial melanoma QC61.Y Orphanet 618 TPD-MKMLWZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MKP1A7 Kennedy disease 8B61.4 Orphanet 481 TPD-MKP1A7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MKP1A7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MKP1A7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MKQW67 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ML3YLV Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-ML3YLV Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-ML3YLV Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-ML42WX Noonan syndrome LD2F.15 Orphanet 648 TPD-ML42WX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ML42WX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ML42WX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ML42WX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ML42WX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ML42WX Lynch syndrome 2B90.Y Orphanet 144 TPD-ML42WX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ML42WX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ML519G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ML5F9H Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-ML5F9H AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-ML5F9H Hemimegalencephaly LA05.1 Orphanet 99802 TPD-ML5MA1 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-ML5MA1 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-ML5MA1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ML5MA1 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-ML6OWE Kennedy disease 8B61.4 Orphanet 481 TPD-ML6OWE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ML6OWE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ML6OWE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ML88OY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ML88OY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ML88OY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MLC3L1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MLC3L1 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MLC3L1 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MLC3L1 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MLC3L1 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MLC3L1 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MLC3L1 Semantic dementia 6D83 Orphanet 100069 TPD-MLC3L1 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MLDFKB Kennedy disease 8B61.4 Orphanet 481 TPD-MLDFKB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MLDFKB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MLDFKB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MLDMLG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MLFDUO Kennedy disease 8B61.4 Orphanet 481 TPD-MLFDUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MLFDUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MLFDUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MLFNOI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MLFNOI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MLFNOI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MLFNOI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MLGKAE Kennedy disease 8B61.4 Orphanet 481 TPD-MLGKAE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MLGKAE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MLGKAE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MLLZ5C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MLM0D6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MLM0D6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MLMQXE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MLMQXE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MLMQXE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MLP4JG Noonan syndrome LD2F.15 Orphanet 648 TPD-MLP4JG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MLP4JG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MLP4JG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MLP4JG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MLP4JG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MLP4JG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MLP4JG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MLP4JG Craniopharyngioma 2F9A Orphanet 54595 TPD-MLP4JG Cushing disease 5A70.0 Orphanet 96253 TPD-MLV1C2 Kennedy disease 8B61.4 Orphanet 481 TPD-MLV1C2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MLV1C2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MLV1C2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MLV59J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MLV59J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MLV59J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MLVMI5 Familial melanoma QC61.Y Orphanet 618 TPD-MLX50Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MLX50Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MLX50Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MLX50Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MM3UU7 Kennedy disease 8B61.4 Orphanet 481 TPD-MM3UU7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MM3UU7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MM3UU7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MM5LR1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MM5LR1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MM6A9W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MM6LG8 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-MMH0UB Burkitt lymphoma XH4KA9 Orphanet 543 TPD-MMH0UB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-MMH0UB Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MMHC4I Noonan syndrome LD2F.15 Orphanet 648 TPD-MMHC4I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MMHC4I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MMHC4I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MMHC4I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MMHC4I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MMHC4I Lynch syndrome 2B90.Y Orphanet 144 TPD-MMHC4I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MMHC4I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MMKIYV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MMKIYV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MMKIYV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MMMA0Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MMMA0Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MMPDZI Noonan syndrome LD2F.15 Orphanet 648 TPD-MMPDZI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MMPDZI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MMPDZI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MMPDZI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MMPDZI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MMPDZI Lynch syndrome 2B90.Y Orphanet 144 TPD-MMPDZI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MMPDZI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MMPMEX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MMPMEX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MMU82V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MMUGH7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MMW5OF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MMWOWI Noonan syndrome LD2F.15 Orphanet 648 TPD-MMWOWI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MMWOWI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MMWOWI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MMWOWI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MMWOWI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MMWOWI Lynch syndrome 2B90.Y Orphanet 144 TPD-MMWOWI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MMWOWI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MMYOPV Kennedy disease 8B61.4 Orphanet 481 TPD-MMYOPV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MMYOPV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MMYOPV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MN0CG5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MN0CG5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MN0CG5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MN3Y5G Kennedy disease 8B61.4 Orphanet 481 TPD-MN3Y5G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MN3Y5G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MN3Y5G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MN4SLV Weaver syndrome LD2C Orphanet 3447 TPD-MN7LOL Kennedy disease 8B61.4 Orphanet 481 TPD-MN7LOL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MN7LOL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MN7LOL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MN9NDT Noonan syndrome LD2F.15 Orphanet 648 TPD-MN9NDT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MN9NDT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MN9NDT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MN9NDT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MN9NDT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MN9NDT Lynch syndrome 2B90.Y Orphanet 144 TPD-MN9NDT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MN9NDT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MNEW8J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MNEW8J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MNGTLE Familial melanoma QC61.Y Orphanet 618 TPD-MNGTLE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MNGW3U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MNHWG8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MNHWG8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MNHZPS Noonan syndrome LD2F.15 Orphanet 648 TPD-MNHZPS Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-MNP6WP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MNP6WP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MNPWVI Kennedy disease 8B61.4 Orphanet 481 TPD-MNPWVI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MNPWVI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MNPWVI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MNQ8VX Noonan syndrome LD2F.15 Orphanet 648 TPD-MNQ8VX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MNQ8VX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MNQ8VX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MNQ8VX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MNQ8VX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MNQ8VX Lynch syndrome 2B90.Y Orphanet 144 TPD-MNQ8VX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MNQ8VX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MNXZNB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MNXZNB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MO0V59 Kennedy disease 8B61.4 Orphanet 481 TPD-MO0V59 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MO0V59 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MO0V59 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MO1EDK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MO3N3R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MO3N3R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MO464E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MO464E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MO464E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MO4FXI Familial melanoma QC61.Y Orphanet 618 TPD-MO4FXI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MOI30N Kennedy disease 8B61.4 Orphanet 481 TPD-MOI30N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MOI30N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MOI30N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MOII7Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MOII7Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MOII7Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MOIO0S Noonan syndrome LD2F.15 Orphanet 648 TPD-MOIO0S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MOIO0S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MOIO0S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MOIO0S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MOIO0S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MOIO0S Lynch syndrome 2B90.Y Orphanet 144 TPD-MOIO0S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MOIO0S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MOJARO Familial melanoma QC61.Y Orphanet 618 TPD-MOJARO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MOJHD9 Noonan syndrome LD2F.15 Orphanet 648 TPD-MOJHD9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MOJHD9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MOJHD9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MOJHD9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MOJHD9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MOJHD9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MOJHD9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MOJHD9 Craniopharyngioma 2F9A Orphanet 54595 TPD-MOJHD9 Cushing disease 5A70.0 Orphanet 96253 TPD-MOLDCY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MOLHW3 Kennedy disease 8B61.4 Orphanet 481 TPD-MOLHW3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MOLHW3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MOLHW3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MOOWXX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MOPP40 Noonan syndrome LD2F.15 Orphanet 648 TPD-MOPP40 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MOPP40 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MOPP40 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MOPP40 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MOPP40 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MOPP40 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MOPP40 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MOPP40 Craniopharyngioma 2F9A Orphanet 54595 TPD-MOPP40 Cushing disease 5A70.0 Orphanet 96253 TPD-MOQZ7Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MOQZ7Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MOQZ7Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MOQZ7Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MOX34U Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-MOX34U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MOX34U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MOX34U Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-MOX34U Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-MOX34U Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-MOX34U Osteosarcoma 2B51 Orphanet 668 TPD-MOX34U Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-MOX34U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MOX34U Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-MOX34U Small cell lung cancer 2C25.1 Orphanet 70573 TPD-MOX34U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MOX34U Cushing disease 5A70.0 Orphanet 96253 TPD-MOX34U Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-MOX34U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MOY2B3 Familial melanoma QC61.Y Orphanet 618 TPD-MOY2B3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MOZHHJ Noonan syndrome LD2F.15 Orphanet 648 TPD-MOZHHJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-MOZKO8 Noonan syndrome LD2F.15 Orphanet 648 TPD-MOZKO8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MOZKO8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MOZKO8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MOZKO8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MOZKO8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MOZKO8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MOZKO8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MOZKO8 Craniopharyngioma 2F9A Orphanet 54595 TPD-MOZKO8 Cushing disease 5A70.0 Orphanet 96253 TPD-MP08UN Noonan syndrome LD2F.15 Orphanet 648 TPD-MP08UN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MP08UN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MP08UN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MP08UN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MP08UN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MP08UN Lynch syndrome 2B90.Y Orphanet 144 TPD-MP08UN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MP08UN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MP0QMB Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-MP0QMB Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-MP0QMB Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-MP0QMB Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-MP0QMB Primary myelofibrosis 2A20.2 Orphanet 824 TPD-MP0QMB Polycythemia vera 2A20.4 Orphanet 729 TPD-MP0QMB Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-MP2Z80 Noonan syndrome LD2F.15 Orphanet 648 TPD-MP2Z80 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MP2Z80 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MP2Z80 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MP2Z80 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MP2Z80 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MP2Z80 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MP2Z80 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MP2Z80 Craniopharyngioma 2F9A Orphanet 54595 TPD-MP2Z80 Cushing disease 5A70.0 Orphanet 96253 TPD-MP3X7Q Noonan syndrome LD2F.15 Orphanet 648 TPD-MP3X7Q Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MP3X7Q Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MP3X7Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MP3X7Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MP3X7Q Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MP3X7Q Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MP3X7Q Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MP3X7Q Craniopharyngioma 2F9A Orphanet 54595 TPD-MP3X7Q Cushing disease 5A70.0 Orphanet 96253 TPD-MP534J Familial melanoma QC61.Y Orphanet 618 TPD-MP534J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MP5YOS Kennedy disease 8B61.4 Orphanet 481 TPD-MP5YOS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MP5YOS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MP5YOS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MPCOYU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MPDS6P Kennedy disease 8B61.4 Orphanet 481 TPD-MPDS6P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MPDS6P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MPDS6P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MPHU0C Kennedy disease 8B61.4 Orphanet 481 TPD-MPHU0C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MPHU0C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MPHU0C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MPIBLG Noonan syndrome LD2F.15 Orphanet 648 TPD-MPIBLG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MPIBLG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MPIBLG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MPIBLG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MPIBLG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MPIBLG Lynch syndrome 2B90.Y Orphanet 144 TPD-MPIBLG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MPIBLG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MPJXCS Kennedy disease 8B61.4 Orphanet 481 TPD-MPJXCS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MPJXCS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MPJXCS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MPM04C Familial melanoma QC61.Y Orphanet 618 TPD-MPM04C Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MPS2JC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MPTH9D Noonan syndrome LD2F.15 Orphanet 648 TPD-MPTH9D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MPTH9D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MPTH9D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MPTH9D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MPTH9D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MPTH9D Lynch syndrome 2B90.Y Orphanet 144 TPD-MPTH9D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MPTH9D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MPTM2R Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MPW2ZF Noonan syndrome LD2F.15 Orphanet 648 TPD-MPW2ZF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MPW2ZF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MPW2ZF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MPW2ZF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MPW2ZF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MPW2ZF Lynch syndrome 2B90.Y Orphanet 144 TPD-MPW2ZF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MPW2ZF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MPXY0Q Kennedy disease 8B61.4 Orphanet 481 TPD-MPXY0Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MPXY0Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MPXY0Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MPYW12 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MQ0HXV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MQ0HXV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MQ0J5I Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MQ0KFQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MQ2B3N Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MQ3K5Z Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-MQ3K5Z Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-MQ578F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MQ578F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MQ578F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MQ578F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MQ578F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MQ578F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MQ578F Semantic dementia 6D83 Orphanet 100069 TPD-MQ578F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MQ68NQ Noonan syndrome LD2F.15 Orphanet 648 TPD-MQ68NQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MQ68NQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MQ68NQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MQ68NQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MQ68NQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MQ68NQ Lynch syndrome 2B90.Y Orphanet 144 TPD-MQ68NQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MQ68NQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MQ7LXR Kennedy disease 8B61.4 Orphanet 481 TPD-MQ7LXR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MQ7LXR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MQ7LXR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MQ8W0U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MQ8W0U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MQ8W0U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MQ8W0U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MQ9IBV Noonan syndrome LD2F.15 Orphanet 648 TPD-MQ9IBV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MQ9IBV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MQ9IBV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MQ9IBV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MQ9IBV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MQ9IBV Lynch syndrome 2B90.Y Orphanet 144 TPD-MQ9IBV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MQ9IBV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MQ9KOB Kennedy disease 8B61.4 Orphanet 481 TPD-MQ9KOB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MQ9KOB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MQ9KOB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MQ9WX8 Kennedy disease 8B61.4 Orphanet 481 TPD-MQ9WX8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MQ9WX8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MQ9WX8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MQATSM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MQBQWG Noonan syndrome LD2F.15 Orphanet 648 TPD-MQBQWG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MQBQWG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MQBQWG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MQBQWG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MQBQWG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MQBQWG Lynch syndrome 2B90.Y Orphanet 144 TPD-MQBQWG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MQBQWG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MQGVQ4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MQGVQ4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MQGVQ4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MQGVQ4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MQGWL7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MQGWL7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MQGWL7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MQK9UG Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-MQK9UG Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-MQK9UG Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-MQK9UG Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-MQK9UG Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-MQK9UG Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-MQK9UG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MQK9UG Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-MQK9UG Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-MQKL0I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MQKL0I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MQKL0I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MQL4Q8 Kennedy disease 8B61.4 Orphanet 481 TPD-MQL4Q8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MQL4Q8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MQL4Q8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MQLJKD Noonan syndrome LD2F.15 Orphanet 648 TPD-MQLJKD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MQLJKD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MQLJKD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MQLJKD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MQLJKD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MQLJKD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MQLJKD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MQLJKD Craniopharyngioma 2F9A Orphanet 54595 TPD-MQLJKD Cushing disease 5A70.0 Orphanet 96253 TPD-MQMZJ4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MQONB9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MQONB9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MQQXZ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MQR5Y6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MQR5Y6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MQSJFU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MQSJFU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MQT3SU Familial melanoma QC61.Y Orphanet 618 TPD-MQT3SU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MQXVIS Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-MQZZEJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-MQZZEJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-MQZZEJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-MQZZEJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-MQZZEJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-MQZZEJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-MQZZEJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MQZZEJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-MQZZEJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-MR4YN0 Noonan syndrome LD2F.15 Orphanet 648 TPD-MR4YN0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MR4YN0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MR4YN0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MR4YN0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MR4YN0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MR4YN0 Lynch syndrome 2B90.Y Orphanet 144 TPD-MR4YN0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MR4YN0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MR50TK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MR50TK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MR5DYZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MR5DYZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MR5DYZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MR7DAW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MR7XJF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MR7XJF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MR7XJF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MR8RG0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MR8RG0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MR94BC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRAHYX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MRBKKK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRBKKK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MREBYF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MREBYF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MREBYF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MREBYF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MRFIVK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MRFKEF Kennedy disease 8B61.4 Orphanet 481 TPD-MRFKEF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRFKEF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRFKEF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MRGUS4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRGUS4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MRI21Z Kennedy disease 8B61.4 Orphanet 481 TPD-MRI21Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRI21Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRI21Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MRJESV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRP2GU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MRPO0J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MRPOZH Kennedy disease 8B61.4 Orphanet 481 TPD-MRPOZH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRPOZH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRPOZH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MRQ82M Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MRQIB7 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-MRSA7J Kennedy disease 8B61.4 Orphanet 481 TPD-MRSA7J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRSA7J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRSA7J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MRSHGR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRSVI8 Kennedy disease 8B61.4 Orphanet 481 TPD-MRSVI8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRSVI8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRSVI8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MRTA8Q Noonan syndrome LD2F.15 Orphanet 648 TPD-MRTA8Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MRTA8Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MRTA8Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MRTA8Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MRTA8Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MRTA8Q Lynch syndrome 2B90.Y Orphanet 144 TPD-MRTA8Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MRTA8Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MRTCER Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MRWBEG Kennedy disease 8B61.4 Orphanet 481 TPD-MRWBEG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MRWBEG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MRWBEG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MS3WI9 Kennedy disease 8B61.4 Orphanet 481 TPD-MS3WI9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MS3WI9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MS3WI9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MS5D38 Familial melanoma QC61.Y Orphanet 618 TPD-MS5D38 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MSASQE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MSH3YZ Kennedy disease 8B61.4 Orphanet 481 TPD-MSH3YZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MSH3YZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MSH3YZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MSJ7GO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MSJ7GO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MSJ7GO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MSJML3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-MSMTXP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MSN50I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MST4SF Kennedy disease 8B61.4 Orphanet 481 TPD-MST4SF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MST4SF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MST4SF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MSUOFI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MSUOFI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MSUOFI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MSY3N4 Familial melanoma QC61.Y Orphanet 618 TPD-MSY3N4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MT4CJH Kennedy disease 8B61.4 Orphanet 481 TPD-MT4CJH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MT4CJH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MT4CJH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MT8PQ3 Kennedy disease 8B61.4 Orphanet 481 TPD-MT8PQ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MT8PQ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MT8PQ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MT9A4G Familial melanoma QC61.Y Orphanet 618 TPD-MT9A4G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MTAN2G Noonan syndrome LD2F.15 Orphanet 648 TPD-MTAN2G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MTAN2G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MTAN2G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MTAN2G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MTAN2G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MTAN2G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MTAN2G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MTAN2G Craniopharyngioma 2F9A Orphanet 54595 TPD-MTAN2G Cushing disease 5A70.0 Orphanet 96253 TPD-MTASRZ Familial melanoma QC61.Y Orphanet 618 TPD-MTASRZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MTBVJ6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MTBVJ6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MTC3WD Familial melanoma QC61.Y Orphanet 618 TPD-MTC3WD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MTDCZF Noonan syndrome LD2F.15 Orphanet 648 TPD-MTDCZF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MTDCZF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MTDCZF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MTDCZF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MTDCZF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MTDCZF Lynch syndrome 2B90.Y Orphanet 144 TPD-MTDCZF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MTDCZF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MTG1C7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MTG6E2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MTG6E2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MTG6E2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MTG6E2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MTMKBK Kennedy disease 8B61.4 Orphanet 481 TPD-MTMKBK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MTMKBK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MTMKBK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MTNYJR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MTNYJR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MTNYJR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MTP4L7 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MTP4L7 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MTSESW Noonan syndrome LD2F.15 Orphanet 648 TPD-MTSESW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MTSESW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MTSESW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MTSESW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MTSESW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MTSESW Lynch syndrome 2B90.Y Orphanet 144 TPD-MTSESW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MTSESW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MTUBIH Kennedy disease 8B61.4 Orphanet 481 TPD-MTUBIH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MTUBIH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MTUBIH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MTV03W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MTV03W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MTZMNL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MTZMNL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MU0B11 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MU0B11 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MU0B11 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MU0B11 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MU0KVK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MU0KVK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MU44Y5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MU4K24 Kennedy disease 8B61.4 Orphanet 481 TPD-MU4K24 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MU4K24 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MU4K24 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MU7CNG Noonan syndrome LD2F.15 Orphanet 648 TPD-MU7CNG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MU7CNG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MU7CNG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MU7CNG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MU7CNG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MU7CNG Lynch syndrome 2B90.Y Orphanet 144 TPD-MU7CNG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MU7CNG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MU93LZ Noonan syndrome LD2F.15 Orphanet 648 TPD-MU93LZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MU93LZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MU93LZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MU93LZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MU93LZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MU93LZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MU93LZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MU93LZ Craniopharyngioma 2F9A Orphanet 54595 TPD-MU93LZ Cushing disease 5A70.0 Orphanet 96253 TPD-MU9855 Weaver syndrome LD2C Orphanet 3447 TPD-MU9FVC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MU9G5F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MU9R9F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MUA3T2 Kennedy disease 8B61.4 Orphanet 481 TPD-MUA3T2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MUA3T2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MUA3T2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MUAJC5 Noonan syndrome LD2F.15 Orphanet 648 TPD-MUAJC5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MUAJC5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MUAJC5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MUAJC5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MUAJC5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MUAJC5 Lynch syndrome 2B90.Y Orphanet 144 TPD-MUAJC5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MUAJC5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MUI1ZA Kennedy disease 8B61.4 Orphanet 481 TPD-MUI1ZA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MUI1ZA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MUI1ZA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MUQW2K Kennedy disease 8B61.4 Orphanet 481 TPD-MUQW2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MUQW2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MUQW2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MUTYBF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MUTYBF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MUWNKM Familial melanoma QC61.Y Orphanet 618 TPD-MUWNKM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MUZG2H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MUZG2H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MUZG2H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MUZLV7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MV57OC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MV57OC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MV57OC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MVAF4D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MVAF4D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MVAF4D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MVAF4D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MVAOMO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MVAOMO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MVFK58 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-MVFK58 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-MVIZFI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MVJMTI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MVJMTI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MVLGST Noonan syndrome LD2F.15 Orphanet 648 TPD-MVLGST Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MVLGST Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MVLGST Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MVLGST Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MVLGST Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MVLGST Lynch syndrome 2B90.Y Orphanet 144 TPD-MVLGST Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MVLGST Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MVNTUX Noonan syndrome LD2F.15 Orphanet 648 TPD-MVNTUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MVNTUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MVNTUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MVNTUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MVNTUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MVNTUX Lynch syndrome 2B90.Y Orphanet 144 TPD-MVNTUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MVNTUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MVOOW9 Familial melanoma QC61.Y Orphanet 618 TPD-MVOOW9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MVPF5U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MVPF5U Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MVUXLT Noonan syndrome LD2F.15 Orphanet 648 TPD-MVUXLT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MVUXLT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MVUXLT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MVUXLT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MVUXLT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MVUXLT Lynch syndrome 2B90.Y Orphanet 144 TPD-MVUXLT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MVUXLT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MVVFI1 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-MVYS38 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MVYS38 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MVYS38 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MVZ1H7 Noonan syndrome LD2F.15 Orphanet 648 TPD-MVZ1H7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MVZ1H7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MVZ1H7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MVZ1H7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MVZ1H7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MVZ1H7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MVZ1H7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MVZ1H7 Craniopharyngioma 2F9A Orphanet 54595 TPD-MVZ1H7 Cushing disease 5A70.0 Orphanet 96253 TPD-MW25E9 Kennedy disease 8B61.4 Orphanet 481 TPD-MW25E9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MW25E9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MW25E9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MW6S0X Kennedy disease 8B61.4 Orphanet 481 TPD-MW6S0X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MW6S0X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MW6S0X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MW6WQ7 Kennedy disease 8B61.4 Orphanet 481 TPD-MW6WQ7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MW6WQ7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MW6WQ7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MW7Q2I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MW7SL6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MW7SL6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MW7SL6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MW8AVJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MWBNWL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MWBNWL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MWBSOZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MWBSOZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-MWCE6Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MWGE2M Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MWGE2M Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MWGE2M Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MWGE2M Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MWGE2M Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MWGE2M Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MWGE2M Semantic dementia 6D83 Orphanet 100069 TPD-MWGE2M Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MWJZ6N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MWJZ6N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MWSIU0 Noonan syndrome LD2F.15 Orphanet 648 TPD-MWSIU0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MWSIU0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MWSIU0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MWSIU0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MWSIU0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MWSIU0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MWSIU0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MWSIU0 Craniopharyngioma 2F9A Orphanet 54595 TPD-MWSIU0 Cushing disease 5A70.0 Orphanet 96253 TPD-MWVEWJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MWVMCL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MWVMCL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MWZ2L6 Weaver syndrome LD2C Orphanet 3447 TPD-MX1HMM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MX1HMM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MX1HMM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MX2F3G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MX2F3G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MX2F3G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MX2F3G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MX4AOV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MXD9H9 Noonan syndrome LD2F.15 Orphanet 648 TPD-MXD9H9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MXD9H9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MXD9H9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MXD9H9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MXD9H9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MXD9H9 Lynch syndrome 2B90.Y Orphanet 144 TPD-MXD9H9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MXD9H9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MXEM5P Familial melanoma QC61.Y Orphanet 618 TPD-MXEM5P Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MXFPTN Familial melanoma QC61.Y Orphanet 618 TPD-MXFPTN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-MXH3IB Noonan syndrome LD2F.15 Orphanet 648 TPD-MXH3IB Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-MXK03Z Kennedy disease 8B61.4 Orphanet 481 TPD-MXK03Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MXK03Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MXK03Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MXM1MF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MXM1MF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MXM1MF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MXNMTH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MXQ3NE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MXS40K Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-MXS40K Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-MXX0J9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MXX0J9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-MXX0J9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MXYPQH Kennedy disease 8B61.4 Orphanet 481 TPD-MXYPQH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MXYPQH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MXYPQH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MY20BN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MY20BN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MY3KAZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MY6WOE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MY6WOE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MY6WOE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MYBKUH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MYBKUH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MYBKUH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MYBO7Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MYBO7Z Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-MYBO7Z Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-MYBO7Z Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-MYBO7Z Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-MYBO7Z Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-MYBO7Z Semantic dementia 6D83 Orphanet 100069 TPD-MYBO7Z Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MYBUNC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MYBWMK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MYF4HN Kennedy disease 8B61.4 Orphanet 481 TPD-MYF4HN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MYF4HN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MYF4HN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MYI76N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MYI76N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MYI76N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MYJ43H Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-MYKAJU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MYKAJU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MYKAJU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MYKAJU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MYMTFG Hirschsprung disease LB16.1 Orphanet 388 TPD-MYMTFG Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-MYMTFG Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-MYOFPY Kennedy disease 8B61.4 Orphanet 481 TPD-MYOFPY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MYOFPY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MYOFPY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MYQ5YT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MYQ5YT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MYT6MH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MYT6MH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MYT6MH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MYUAEP Kennedy disease 8B61.4 Orphanet 481 TPD-MYUAEP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MYUAEP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MYUAEP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MYXYG9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-MYY1LJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MYZ7W8 X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-MZ00F9 Noonan syndrome LD2F.15 Orphanet 648 TPD-MZ00F9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MZ00F9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MZ00F9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MZ00F9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MZ00F9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MZ00F9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MZ00F9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MZ00F9 Craniopharyngioma 2F9A Orphanet 54595 TPD-MZ00F9 Cushing disease 5A70.0 Orphanet 96253 TPD-MZ142C Kennedy disease 8B61.4 Orphanet 481 TPD-MZ142C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MZ142C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MZ142C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MZ15CR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MZ3PX6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MZ3PX6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MZ55D0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MZ55D0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MZ55D0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MZ5B1R CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-MZ5U3I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MZ7M29 Kennedy disease 8B61.4 Orphanet 481 TPD-MZ7M29 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MZ7M29 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MZ7M29 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MZ80DS Noonan syndrome LD2F.15 Orphanet 648 TPD-MZ80DS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MZ80DS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-MZ80DS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MZ80DS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MZ80DS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-MZ80DS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-MZ80DS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-MZ80DS Craniopharyngioma 2F9A Orphanet 54595 TPD-MZ80DS Cushing disease 5A70.0 Orphanet 96253 TPD-MZ8QFP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-MZBGV7 Kennedy disease 8B61.4 Orphanet 481 TPD-MZBGV7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MZBGV7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MZBGV7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MZCVMA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-MZCVMA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-MZDD5P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-MZDD5P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-MZDD5P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-MZDD5P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-MZDDD8 Kennedy disease 8B61.4 Orphanet 481 TPD-MZDDD8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MZDDD8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MZDDD8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MZDQ5G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-MZILT4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-MZILT4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-MZJPKG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-MZJPKG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-MZJPKG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-MZPL4A Noonan syndrome LD2F.15 Orphanet 648 TPD-MZPL4A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MZPL4A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MZPL4A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MZPL4A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MZPL4A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MZPL4A Lynch syndrome 2B90.Y Orphanet 144 TPD-MZPL4A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MZPL4A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-MZVQOH Kennedy disease 8B61.4 Orphanet 481 TPD-MZVQOH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-MZVQOH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-MZVQOH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-MZWOZQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-MZWOZQ Neuroblastoma 2A00.11 Orphanet 635 TPD-MZWOZQ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-MZWOZQ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-MZWOZQ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-MZY0HC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-MZZ0OC Noonan syndrome LD2F.15 Orphanet 648 TPD-MZZ0OC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-MZZ0OC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-MZZ0OC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-MZZ0OC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-MZZ0OC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-MZZ0OC Lynch syndrome 2B90.Y Orphanet 144 TPD-MZZ0OC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-MZZ0OC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N01ST4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N01ST4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N01ST4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N02C64 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N02C64 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N02C64 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N02C64 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N03DH0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N03DH0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N03DH0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N05KYH Kennedy disease 8B61.4 Orphanet 481 TPD-N05KYH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N05KYH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N05KYH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N07Z2Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N07Z2Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N07Z2Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N07Z2Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N0A45F Kennedy disease 8B61.4 Orphanet 481 TPD-N0A45F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N0A45F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N0A45F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N0DRXB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N0DRXB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-N0F07F Noonan syndrome LD2F.15 Orphanet 648 TPD-N0F07F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N0F07F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N0F07F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N0F07F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N0F07F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N0F07F Lynch syndrome 2B90.Y Orphanet 144 TPD-N0F07F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N0F07F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N0FOQJ Kennedy disease 8B61.4 Orphanet 481 TPD-N0FOQJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N0FOQJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N0FOQJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N0GQDX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-N0GQDX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-N0ITWS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-N0ITWS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-N0ITWS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-N0LWA9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N0LWA9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N0LWA9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N0O2GQ Familial melanoma QC61.Y Orphanet 618 TPD-N0O2GQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N0Q7HI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-N0Q7HI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-N0Q7HI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-N0QV44 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N0RNEF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N0RZCW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N0SSAS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N0SSAS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N0SSAS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N0SSAS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N0SSAS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N0SSAS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N0SSAS Semantic dementia 6D83 Orphanet 100069 TPD-N0SSAS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N0VVCU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-N0VVCU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-N0W3YH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N0W7TJ Kennedy disease 8B61.4 Orphanet 481 TPD-N0W7TJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N0W7TJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N0W7TJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N15UMT Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-N15UMT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-N17T1H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N17T1H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N17T1H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N17T1H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N1C0E8 Kennedy disease 8B61.4 Orphanet 481 TPD-N1C0E8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N1C0E8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N1C0E8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N1ITRX Kennedy disease 8B61.4 Orphanet 481 TPD-N1ITRX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N1ITRX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N1ITRX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N1LXYS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N1U9O7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N1U9O7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N1U9O7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N1UJA1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N1V0YU Kennedy disease 8B61.4 Orphanet 481 TPD-N1V0YU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N1V0YU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N1V0YU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N1WFEP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N1WUUE Kennedy disease 8B61.4 Orphanet 481 TPD-N1WUUE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N1WUUE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N1WUUE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N1XBPP Noonan syndrome LD2F.15 Orphanet 648 TPD-N1XBPP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N1XBPP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N1XBPP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N1XBPP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N1XBPP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N1XBPP Lynch syndrome 2B90.Y Orphanet 144 TPD-N1XBPP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N1XBPP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N237VU Kennedy disease 8B61.4 Orphanet 481 TPD-N237VU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N237VU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N237VU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N287GP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N288JK Kennedy disease 8B61.4 Orphanet 481 TPD-N288JK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N288JK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N288JK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N29VGR Noonan syndrome LD2F.15 Orphanet 648 TPD-N29VGR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N29VGR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N29VGR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N29VGR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N29VGR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N29VGR Lynch syndrome 2B90.Y Orphanet 144 TPD-N29VGR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N29VGR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N2CKHR Familial melanoma QC61.Y Orphanet 618 TPD-N2ELOC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N2FRAW Kennedy disease 8B61.4 Orphanet 481 TPD-N2FRAW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N2FRAW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N2FRAW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N2HQNL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N2J2N5 Familial melanoma QC61.Y Orphanet 618 TPD-N2J2N5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N2LJCH Noonan syndrome LD2F.15 Orphanet 648 TPD-N2LJCH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N2LJCH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N2LJCH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N2LJCH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N2LJCH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N2LJCH Lynch syndrome 2B90.Y Orphanet 144 TPD-N2LJCH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N2LJCH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N2QDDH Noonan syndrome LD2F.15 Orphanet 648 TPD-N2QDDH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N2QDDH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N2QDDH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N2QDDH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N2QDDH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N2QDDH Lynch syndrome 2B90.Y Orphanet 144 TPD-N2QDDH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N2QDDH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N2SK5X Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-N2SK5X Neuroblastoma 2A00.11 Orphanet 635 TPD-N2SK5X Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-N2SK5X ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-N2SK5X ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-N2YH6B Kennedy disease 8B61.4 Orphanet 481 TPD-N2YH6B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N2YH6B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N2YH6B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N31SZZ Kennedy disease 8B61.4 Orphanet 481 TPD-N31SZZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N31SZZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N31SZZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N36Q2L Familial melanoma QC61.Y Orphanet 618 TPD-N36Q2L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N382CP Kennedy disease 8B61.4 Orphanet 481 TPD-N382CP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N382CP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N382CP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N38DZ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-N38DZ5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-N38DZ5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-N38DZ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N38DZ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N38DZ5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-N38DZ5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-N38DZ5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-N38DZ5 Craniopharyngioma 2F9A Orphanet 54595 TPD-N38DZ5 Cushing disease 5A70.0 Orphanet 96253 TPD-N38KV6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N3FQ16 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-N3GSDO Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-N3HQCI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N3HQCI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N3HQCI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N3K66I Familial melanoma QC61.Y Orphanet 618 TPD-N3K66I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N3MN30 Noonan syndrome LD2F.15 Orphanet 648 TPD-N3MN30 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-N3MN30 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-N3MN30 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N3MN30 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N3MN30 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-N3MN30 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-N3MN30 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-N3MN30 Craniopharyngioma 2F9A Orphanet 54595 TPD-N3MN30 Cushing disease 5A70.0 Orphanet 96253 TPD-N3NSFW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N3PTV9 Hirschsprung disease LB16.1 Orphanet 388 TPD-N3PTV9 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-N3PTV9 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-N3VUZ4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N3VUZ4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N3VUZ4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N3X2GM Kennedy disease 8B61.4 Orphanet 481 TPD-N3X2GM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N3X2GM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N3X2GM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N40HX2 Kennedy disease 8B61.4 Orphanet 481 TPD-N40HX2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N40HX2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N40HX2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N414WR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N42HLN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N46IAS Burkitt lymphoma XH4KA9 Orphanet 543 TPD-N46IAS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-N4D773 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-N4D773 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-N4D773 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-N4FMNR Familial melanoma QC61.Y Orphanet 618 TPD-N4FMNR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N4GL4X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N4GL4X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N4GL4X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N4HODP Noonan syndrome LD2F.15 Orphanet 648 TPD-N4HODP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N4HODP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N4HODP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N4HODP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N4HODP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N4HODP Lynch syndrome 2B90.Y Orphanet 144 TPD-N4HODP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N4HODP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N4L0VT Noonan syndrome LD2F.15 Orphanet 648 TPD-N4L0VT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N4L0VT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N4L0VT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N4L0VT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N4L0VT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N4L0VT Lynch syndrome 2B90.Y Orphanet 144 TPD-N4L0VT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N4L0VT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N4MR9M Kennedy disease 8B61.4 Orphanet 481 TPD-N4MR9M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N4MR9M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N4MR9M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N4NXT8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N4NXT8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N4NXT8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N4OZB2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N4OZB2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N4OZB2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N4OZB2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N4OZB2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N4OZB2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N4OZB2 Semantic dementia 6D83 Orphanet 100069 TPD-N4OZB2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N4PRD6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N4PRD6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N4PRD6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N4PRD6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N4SODM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N4SODM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N4SODM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N4SODM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N4T6TB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N4U6TT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N4U6TT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-N4UCLC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N4VI01 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-N4VI01 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-N4VI01 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-N4X39A Noonan syndrome LD2F.15 Orphanet 648 TPD-N4X39A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N4X39A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N4X39A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N4X39A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N4X39A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N4X39A Lynch syndrome 2B90.Y Orphanet 144 TPD-N4X39A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N4X39A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N50SO4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N51DEA Noonan syndrome LD2F.15 Orphanet 648 TPD-N51DEA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N51DEA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N51DEA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N51DEA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N51DEA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N51DEA Lynch syndrome 2B90.Y Orphanet 144 TPD-N51DEA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N51DEA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N55G3E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N56CF0 Noonan syndrome LD2F.15 Orphanet 648 TPD-N56CF0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N56CF0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N56CF0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N56CF0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N56CF0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N56CF0 Lynch syndrome 2B90.Y Orphanet 144 TPD-N56CF0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N56CF0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N59KAC Noonan syndrome LD2F.15 Orphanet 648 TPD-N59KAC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N59KAC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N59KAC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N59KAC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N59KAC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N59KAC Lynch syndrome 2B90.Y Orphanet 144 TPD-N59KAC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N59KAC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N5ACLI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N5ACLI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N5ACLI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N5AX3D Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N5AX3D Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N5AX3D Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N5AX3D Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N5AX3D Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N5AX3D Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N5AX3D Semantic dementia 6D83 Orphanet 100069 TPD-N5AX3D Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N5DW64 Noonan syndrome LD2F.15 Orphanet 648 TPD-N5DW64 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N5DW64 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N5DW64 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N5DW64 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N5DW64 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N5DW64 Lynch syndrome 2B90.Y Orphanet 144 TPD-N5DW64 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N5DW64 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N5F4TI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N5F4TI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-N5I1IZ Kennedy disease 8B61.4 Orphanet 481 TPD-N5I1IZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N5I1IZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N5I1IZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N5IGS5 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-N5IGS5 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-N5IWUB Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-N5IX86 Noonan syndrome LD2F.15 Orphanet 648 TPD-N5IX86 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-N5K4DF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-N5KPCG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N5MZX1 Kennedy disease 8B61.4 Orphanet 481 TPD-N5MZX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N5MZX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N5MZX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N5NJP1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N5NJP1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N5NJP1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N5R0N3 Kennedy disease 8B61.4 Orphanet 481 TPD-N5R0N3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N5R0N3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N5R0N3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N5TALJ Noonan syndrome LD2F.15 Orphanet 648 TPD-N5TALJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N5TALJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N5TALJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N5TALJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N5TALJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N5TALJ Lynch syndrome 2B90.Y Orphanet 144 TPD-N5TALJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N5TALJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N5XRAK Familial melanoma QC61.Y Orphanet 618 TPD-N5XRAK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N5ZTQQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N6561N Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-N6561N Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-N66OMA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-N66OMA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-N67V8U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N67V8U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N67V8U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N6802I Kennedy disease 8B61.4 Orphanet 481 TPD-N6802I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N6802I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N6802I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N6C94V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N6C94V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N6C94V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N6DNMS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N6E9II Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N6FL6L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N6GY2Q Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-N6GY2Q Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-N6GY2Q Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N6GY2Q Distal myopathy, Welander type 8C75 Orphanet 603 TPD-N6L5ID Noonan syndrome LD2F.15 Orphanet 648 TPD-N6L5ID Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N6L5ID Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N6L5ID Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N6L5ID Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N6L5ID Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N6L5ID Lynch syndrome 2B90.Y Orphanet 144 TPD-N6L5ID Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N6L5ID Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N6MENJ Noonan syndrome LD2F.15 Orphanet 648 TPD-N6MENJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-N6MENJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-N6MENJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N6MENJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N6MENJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-N6MENJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-N6MENJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-N6MENJ Craniopharyngioma 2F9A Orphanet 54595 TPD-N6MENJ Cushing disease 5A70.0 Orphanet 96253 TPD-N6MNWR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-N6MNWR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-N6NZ3G Noonan syndrome LD2F.15 Orphanet 648 TPD-N6NZ3G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N6NZ3G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N6NZ3G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N6NZ3G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N6NZ3G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N6NZ3G Lynch syndrome 2B90.Y Orphanet 144 TPD-N6NZ3G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N6NZ3G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N6OMXV Noonan syndrome LD2F.15 Orphanet 648 TPD-N6OMXV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N6OMXV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N6OMXV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N6OMXV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N6OMXV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N6OMXV Lynch syndrome 2B90.Y Orphanet 144 TPD-N6OMXV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N6OMXV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N6PMPP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N6PMPP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N6PMPP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N6S5WU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N6S5WU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N6S5WU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N6UHI7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N6VA4O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N6VA4O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N6VA4O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N6VA4O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N6YLKQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N6YLKQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N6YLKQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N6YRRL Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-N77ZDR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N77ZDR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N77ZDR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N77ZDR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N79TB9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N79TB9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N79TB9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N79TB9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N7B5VC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-N7B5VC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-N7CI0W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N7DGNM Noonan syndrome LD2F.15 Orphanet 648 TPD-N7DGNM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N7DGNM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N7DGNM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N7DGNM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N7DGNM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N7DGNM Lynch syndrome 2B90.Y Orphanet 144 TPD-N7DGNM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N7DGNM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N7E2DA Kennedy disease 8B61.4 Orphanet 481 TPD-N7E2DA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N7E2DA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N7E2DA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N7LBQE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-N7LN1T CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N7NIUZ Noonan syndrome LD2F.15 Orphanet 648 TPD-N7NIUZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N7NIUZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N7NIUZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N7NIUZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N7NIUZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N7NIUZ Lynch syndrome 2B90.Y Orphanet 144 TPD-N7NIUZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N7NIUZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N7RB6E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N7YQMR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N8017P Kennedy disease 8B61.4 Orphanet 481 TPD-N8017P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N8017P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N8017P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N844QP Weaver syndrome LD2C Orphanet 3447 TPD-N85CHH Kennedy disease 8B61.4 Orphanet 481 TPD-N85CHH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N85CHH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N85CHH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N85XX8 Kennedy disease 8B61.4 Orphanet 481 TPD-N85XX8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N85XX8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N85XX8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N89R4E Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N89R4E Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N89R4E Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N89R4E Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N89R4E Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N89R4E Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N89R4E Semantic dementia 6D83 Orphanet 100069 TPD-N89R4E Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N89UC1 Kennedy disease 8B61.4 Orphanet 481 TPD-N89UC1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N89UC1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N89UC1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N8AFY0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N8AFY0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N8AFY0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N8BD26 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-N8ET7K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N8ET7K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N8ET7K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N8ET7K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N8ET7K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N8ET7K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N8ET7K Semantic dementia 6D83 Orphanet 100069 TPD-N8ET7K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N8GVTR Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-N8GVTR Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-N8IF01 Kennedy disease 8B61.4 Orphanet 481 TPD-N8IF01 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N8IF01 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N8IF01 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N8JXUI Familial melanoma QC61.Y Orphanet 618 TPD-N8JXUI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-N905L5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N905L5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N905L5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N910AN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-N910AN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-N910AN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-N92FPR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N92FPR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N92FPR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N94SRI Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-N94SRI Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-N94SRI Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-N97C5M Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-N97C5M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N97C5M Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-N97C5M Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-N97C5M MODY 5A13.6 Orphanet 552 TPD-N97C5M Williams syndrome LD44.70 Orphanet 904 TPD-N97C5M Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-N97C5M Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-N97C5M Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-N97C5M X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-N97NVR Kennedy disease 8B61.4 Orphanet 481 TPD-N97NVR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-N97NVR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-N97NVR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-N99M9A Noonan syndrome LD2F.15 Orphanet 648 TPD-N99M9A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N99M9A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N99M9A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N99M9A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N99M9A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N99M9A Lynch syndrome 2B90.Y Orphanet 144 TPD-N99M9A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N99M9A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N99X39 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-N9FBAC Noonan syndrome LD2F.15 Orphanet 648 TPD-N9FBAC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N9FBAC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N9FBAC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N9FBAC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N9FBAC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N9FBAC Lynch syndrome 2B90.Y Orphanet 144 TPD-N9FBAC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N9FBAC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N9JNF4 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N9JNF4 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-N9JNF4 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-N9JNF4 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-N9JNF4 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-N9JNF4 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-N9JNF4 Semantic dementia 6D83 Orphanet 100069 TPD-N9JNF4 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N9LWHS Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-N9MA94 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-N9MA94 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-N9MA94 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-N9MA94 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N9Q1B7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-N9RCW2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N9RCW2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N9RCW2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-N9RWAM Noonan syndrome LD2F.15 Orphanet 648 TPD-N9RWAM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N9RWAM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N9RWAM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N9RWAM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N9RWAM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N9RWAM Lynch syndrome 2B90.Y Orphanet 144 TPD-N9RWAM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N9RWAM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N9TXZU Noonan syndrome LD2F.15 Orphanet 648 TPD-N9TXZU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-N9TXZU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-N9TXZU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-N9TXZU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-N9TXZU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-N9TXZU Lynch syndrome 2B90.Y Orphanet 144 TPD-N9TXZU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-N9TXZU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-N9WNCX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-N9WNCX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-N9WNCX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NA4W6T Noonan syndrome LD2F.15 Orphanet 648 TPD-NA4W6T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NA4W6T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NA4W6T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NA4W6T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NA4W6T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NA4W6T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NA4W6T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NA4W6T Craniopharyngioma 2F9A Orphanet 54595 TPD-NA4W6T Cushing disease 5A70.0 Orphanet 96253 TPD-NA64YW Noonan syndrome LD2F.15 Orphanet 648 TPD-NA64YW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NA64YW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NA64YW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NA64YW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NA64YW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NA64YW Lynch syndrome 2B90.Y Orphanet 144 TPD-NA64YW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NA64YW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NA74GP Kennedy disease 8B61.4 Orphanet 481 TPD-NA74GP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NA74GP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NA74GP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NAF40P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NAFP38 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NAFP38 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NAKZGD Kennedy disease 8B61.4 Orphanet 481 TPD-NAKZGD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NAKZGD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NAKZGD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NAMKZH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NAQBHQ Kennedy disease 8B61.4 Orphanet 481 TPD-NAQBHQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NAQBHQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NAQBHQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NARR5A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NARR5A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NAT7V2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NAT7V2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NAUIMS Kennedy disease 8B61.4 Orphanet 481 TPD-NAUIMS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NAUIMS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NAUIMS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NAUMFA Familial melanoma QC61.Y Orphanet 618 TPD-NAUMFA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NAWPAD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NAWPAD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NB23GR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NB23GR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NB298C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NB298C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NB298C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NB298C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NB48T8 Familial melanoma QC61.Y Orphanet 618 TPD-NB48T8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NB73B7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NB73B7 Neuroblastoma 2A00.11 Orphanet 635 TPD-NB73B7 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-NB73B7 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-NB73B7 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-NB9TS2 Kennedy disease 8B61.4 Orphanet 481 TPD-NB9TS2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NB9TS2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NB9TS2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NBGLUJ Noonan syndrome LD2F.15 Orphanet 648 TPD-NBGLUJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NBGLUJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NBGLUJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NBGLUJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NBGLUJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NBGLUJ Lynch syndrome 2B90.Y Orphanet 144 TPD-NBGLUJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NBGLUJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NBKHRL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NBL0W2 Kennedy disease 8B61.4 Orphanet 481 TPD-NBL0W2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NBL0W2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NBL0W2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NBMB0L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NBMB0L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NBMB0L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NBPKXM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NBSWP6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NBY8JE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NBY8JE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NBYFGU Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-NBYFGU Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-NBZYBC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NBZYBC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NBZYBC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NBZYBC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NC3BX1 Kennedy disease 8B61.4 Orphanet 481 TPD-NC3BX1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NC3BX1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NC3BX1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NC3C0T Kennedy disease 8B61.4 Orphanet 481 TPD-NC3C0T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NC3C0T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NC3C0T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NC43Z1 Kennedy disease 8B61.4 Orphanet 481 TPD-NC43Z1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NC43Z1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NC43Z1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NC7GLU Noonan syndrome LD2F.15 Orphanet 648 TPD-NC7GLU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NC7GLU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NC7GLU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NC7GLU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NC7GLU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NC7GLU Lynch syndrome 2B90.Y Orphanet 144 TPD-NC7GLU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NC7GLU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NC9TZJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NC9TZJ Neuroblastoma 2A00.11 Orphanet 635 TPD-NC9TZJ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-NC9TZJ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-NC9TZJ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-NCF9FH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NCF9FH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NCF9FH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NCF9FH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NCFB3R Kennedy disease 8B61.4 Orphanet 481 TPD-NCFB3R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NCFB3R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NCFB3R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NCJI3U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NCJI3U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NCJSCK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NCJSCK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NCLINY Noonan syndrome LD2F.15 Orphanet 648 TPD-NCLINY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NCLINY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NCLINY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NCLINY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NCLINY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NCLINY Lynch syndrome 2B90.Y Orphanet 144 TPD-NCLINY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NCLINY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NCSQTZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NCU5O0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NCU5O0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NCUJI4 Kennedy disease 8B61.4 Orphanet 481 TPD-NCUJI4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NCUJI4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NCUJI4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NCZ59S Noonan syndrome LD2F.15 Orphanet 648 TPD-NCZ59S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NCZ59S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NCZ59S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NCZ59S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NCZ59S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NCZ59S Lynch syndrome 2B90.Y Orphanet 144 TPD-NCZ59S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NCZ59S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ND0W2P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ND1HSE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ND23VG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ND23VG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ND23VG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NDFSJ5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NDFSJ5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NDFYBJ Noonan syndrome LD2F.15 Orphanet 648 TPD-NDFYBJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NDFYBJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NDFYBJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NDFYBJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NDFYBJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NDFYBJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NDFYBJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NDFYBJ Craniopharyngioma 2F9A Orphanet 54595 TPD-NDFYBJ Cushing disease 5A70.0 Orphanet 96253 TPD-NDIQLO Kennedy disease 8B61.4 Orphanet 481 TPD-NDIQLO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NDIQLO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NDIQLO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NDL75O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NDL75O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NDORSN Noonan syndrome LD2F.15 Orphanet 648 TPD-NDORSN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NDORSN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NDORSN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NDORSN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NDORSN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NDORSN Lynch syndrome 2B90.Y Orphanet 144 TPD-NDORSN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NDORSN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NDRQ1S Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-NDRQ1S CINCA syndrome 4A60.1 Orphanet 1451 TPD-NDRQ1S Familial cold urticaria 4A60.1 Orphanet 47045 TPD-NDUIRO Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NDVD7O Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-NDVJ5P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NDVJ5P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NDYVU6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-NDYVU6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-NDZ0WH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NDZ0WH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NDZ0WH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NDZM03 Kennedy disease 8B61.4 Orphanet 481 TPD-NDZM03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NDZM03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NDZM03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NE3MUP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NE3MUP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NE3MUP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NE3MUP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NE4C7E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NE4VW3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NEAH5U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NEAH5U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NEAH5U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NEAH5U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NEECDV Noonan syndrome LD2F.15 Orphanet 648 TPD-NEECDV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NEECDV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NEECDV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NEECDV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NEECDV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NEECDV Lynch syndrome 2B90.Y Orphanet 144 TPD-NEECDV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NEECDV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NEGFEI Noonan syndrome LD2F.15 Orphanet 648 TPD-NEGFEI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NEGFEI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NEGFEI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NEGFEI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NEGFEI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NEGFEI Lynch syndrome 2B90.Y Orphanet 144 TPD-NEGFEI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NEGFEI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NELJ94 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NELJ94 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NEN2O5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NEN2O5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NEP8JG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NEPFQD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NEPFQD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NEPZY4 Kennedy disease 8B61.4 Orphanet 481 TPD-NEPZY4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NEPZY4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NEPZY4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NEVUWB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NEVVR4 Kennedy disease 8B61.4 Orphanet 481 TPD-NEVVR4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NEVVR4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NEVVR4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NEZKXU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NEZKXU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NEZKXU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NEZZW3 Familial melanoma QC61.Y Orphanet 618 TPD-NEZZW3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NF05O8 Kennedy disease 8B61.4 Orphanet 481 TPD-NF05O8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NF05O8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NF05O8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NF36AC Kennedy disease 8B61.4 Orphanet 481 TPD-NF36AC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NF36AC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NF36AC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NFCXEX Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-NFEQ9Z Noonan syndrome LD2F.15 Orphanet 648 TPD-NFEQ9Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NFEQ9Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NFEQ9Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NFEQ9Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NFEQ9Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NFEQ9Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NFEQ9Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NFEQ9Z Craniopharyngioma 2F9A Orphanet 54595 TPD-NFEQ9Z Cushing disease 5A70.0 Orphanet 96253 TPD-NFFALL Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-NFJT7Z Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NFK2HR Kennedy disease 8B61.4 Orphanet 481 TPD-NFK2HR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NFK2HR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NFK2HR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NFLJJL Noonan syndrome LD2F.15 Orphanet 648 TPD-NFLJJL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NFLJJL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NFLJJL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NFLJJL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NFLJJL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NFLJJL Lynch syndrome 2B90.Y Orphanet 144 TPD-NFLJJL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NFLJJL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NFR4RB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NFR4RB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NFR4RB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NFR4RB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NFSSYS Noonan syndrome LD2F.15 Orphanet 648 TPD-NFSSYS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NFSSYS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NFSSYS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NFSSYS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NFSSYS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NFSSYS Lynch syndrome 2B90.Y Orphanet 144 TPD-NFSSYS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NFSSYS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NFVQKA Kennedy disease 8B61.4 Orphanet 481 TPD-NFVQKA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NFVQKA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NFVQKA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NFX5UZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NFX5UZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NG67I3 Noonan syndrome LD2F.15 Orphanet 648 TPD-NG67I3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NG67I3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NG67I3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NG67I3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NG67I3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NG67I3 Lynch syndrome 2B90.Y Orphanet 144 TPD-NG67I3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NG67I3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NG71RA Familial melanoma QC61.Y Orphanet 618 TPD-NG71RA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NG7HOK Kennedy disease 8B61.4 Orphanet 481 TPD-NG7HOK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NG7HOK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NG7HOK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NG7W2K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NG7W2K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NG7W2K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NG7W2K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NG8QWO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NG8QWO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NG8QWO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NG9ZYW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NGD16J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NGE18W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NGE18W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NGE18W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NGH715 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NGH715 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NGH715 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NGI8PX Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-NGI8PX Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-NGI8PX Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-NGI8PX Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-NGI8PX Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-NGI8PX Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-NGI8PX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NGI8PX Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-NGI8PX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-NGP3EX Noonan syndrome LD2F.15 Orphanet 648 TPD-NGP3EX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NGP3EX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NGP3EX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NGP3EX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NGP3EX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NGP3EX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NGP3EX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NGP3EX Craniopharyngioma 2F9A Orphanet 54595 TPD-NGP3EX Cushing disease 5A70.0 Orphanet 96253 TPD-NGPDDJ Noonan syndrome LD2F.15 Orphanet 648 TPD-NGPDDJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NGPDDJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NGPDDJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NGPDDJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NGPDDJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NGPDDJ Lynch syndrome 2B90.Y Orphanet 144 TPD-NGPDDJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NGPDDJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NGQW2P Noonan syndrome LD2F.15 Orphanet 648 TPD-NGQW2P Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-NGSAOR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NGX9PB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NGXX26 Kennedy disease 8B61.4 Orphanet 481 TPD-NGXX26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NGXX26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NGXX26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NGXZ8P Kennedy disease 8B61.4 Orphanet 481 TPD-NGXZ8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NGXZ8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NGXZ8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NGYTR6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NGYTR6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NGZUD1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NGZUD1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NH1DUN Familial melanoma QC61.Y Orphanet 618 TPD-NH1DUN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NH1HR7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NH1HR7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NH1HR7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NH1J7H Noonan syndrome LD2F.15 Orphanet 648 TPD-NH1J7H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NH1J7H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NH1J7H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NH1J7H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NH1J7H Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NH1J7H Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NH1J7H Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NH1J7H Craniopharyngioma 2F9A Orphanet 54595 TPD-NH1J7H Cushing disease 5A70.0 Orphanet 96253 TPD-NH208A Kennedy disease 8B61.4 Orphanet 481 TPD-NH208A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NH208A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NH208A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NH432C Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NH4VYV Kennedy disease 8B61.4 Orphanet 481 TPD-NH4VYV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NH4VYV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NH4VYV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NH5PWZ Noonan syndrome LD2F.15 Orphanet 648 TPD-NH5PWZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NH5PWZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NH5PWZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NH5PWZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NH5PWZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NH5PWZ Lynch syndrome 2B90.Y Orphanet 144 TPD-NH5PWZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NH5PWZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NH6K07 Noonan syndrome LD2F.15 Orphanet 648 TPD-NH6K07 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NH6K07 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NH6K07 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NH6K07 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NH6K07 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NH6K07 Lynch syndrome 2B90.Y Orphanet 144 TPD-NH6K07 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NH6K07 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NHA491 Noonan syndrome LD2F.15 Orphanet 648 TPD-NHA491 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NHA491 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NHA491 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NHA491 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NHA491 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NHA491 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NHA491 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NHA491 Craniopharyngioma 2F9A Orphanet 54595 TPD-NHA491 Cushing disease 5A70.0 Orphanet 96253 TPD-NHATTH Kennedy disease 8B61.4 Orphanet 481 TPD-NHATTH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NHATTH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NHATTH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NHAWBD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NHAWBD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NHC4E5 Kennedy disease 8B61.4 Orphanet 481 TPD-NHC4E5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NHC4E5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NHC4E5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NHCJHR Noonan syndrome LD2F.15 Orphanet 648 TPD-NHCJHR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NHCJHR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NHCJHR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NHCJHR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NHCJHR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NHCJHR Lynch syndrome 2B90.Y Orphanet 144 TPD-NHCJHR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NHCJHR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NHGJUG Noonan syndrome LD2F.15 Orphanet 648 TPD-NHGJUG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NHGJUG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NHGJUG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NHGJUG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NHGJUG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NHGJUG Lynch syndrome 2B90.Y Orphanet 144 TPD-NHGJUG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NHGJUG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NHH52B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NHH52B Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NHH52B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NHIRZL Noonan syndrome LD2F.15 Orphanet 648 TPD-NHIRZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NHIRZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NHIRZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NHIRZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NHIRZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NHIRZL Lynch syndrome 2B90.Y Orphanet 144 TPD-NHIRZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NHIRZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NHK41R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NHK41R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NHK41R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NHNJL4 Kennedy disease 8B61.4 Orphanet 481 TPD-NHNJL4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NHNJL4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NHNJL4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NHOVUS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NHPKRM Kennedy disease 8B61.4 Orphanet 481 TPD-NHPKRM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NHPKRM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NHPKRM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NHRLXC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NHRLXC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NHWHQT Kennedy disease 8B61.4 Orphanet 481 TPD-NHWHQT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NHWHQT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NHWHQT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NI089Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NI089Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NI5ZQ0 Kennedy disease 8B61.4 Orphanet 481 TPD-NI5ZQ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NI5ZQ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NI5ZQ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NI8OF0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NIAG0I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NIAG0I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NIAG0I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NIBG2T Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NIDDXM Kennedy disease 8B61.4 Orphanet 481 TPD-NIDDXM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIDDXM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIDDXM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIE2OL Kennedy disease 8B61.4 Orphanet 481 TPD-NIE2OL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIE2OL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIE2OL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIK3TL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NIK3TL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NILMRM Kennedy disease 8B61.4 Orphanet 481 TPD-NILMRM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NILMRM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NILMRM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIOCU4 Kennedy disease 8B61.4 Orphanet 481 TPD-NIOCU4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIOCU4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIOCU4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIQNCW Familial melanoma QC61.Y Orphanet 618 TPD-NIQNCW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NIRYXY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NIRYXY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NIRYXY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NIRYXY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NIS401 Kennedy disease 8B61.4 Orphanet 481 TPD-NIS401 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIS401 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIS401 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIVCG6 Kennedy disease 8B61.4 Orphanet 481 TPD-NIVCG6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIVCG6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIVCG6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIXJCT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NIXJCT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NIXJCT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NIYQ9L Kennedy disease 8B61.4 Orphanet 481 TPD-NIYQ9L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIYQ9L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIYQ9L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIZ7SM Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-NIZKCX Kennedy disease 8B61.4 Orphanet 481 TPD-NIZKCX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NIZKCX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NIZKCX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NIZW5U Familial melanoma QC61.Y Orphanet 618 TPD-NIZW5U Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NJ059L Kennedy disease 8B61.4 Orphanet 481 TPD-NJ059L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NJ059L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NJ059L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NJ0FNF Kennedy disease 8B61.4 Orphanet 481 TPD-NJ0FNF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NJ0FNF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NJ0FNF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NJ1YXG Noonan syndrome LD2F.15 Orphanet 648 TPD-NJ1YXG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NJ1YXG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NJ1YXG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NJ1YXG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NJ1YXG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NJ1YXG Lynch syndrome 2B90.Y Orphanet 144 TPD-NJ1YXG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NJ1YXG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NJ235W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NJ235W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NJ235W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NJ235W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NJ26VH Kennedy disease 8B61.4 Orphanet 481 TPD-NJ26VH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NJ26VH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NJ26VH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NJ3UE8 Kennedy disease 8B61.4 Orphanet 481 TPD-NJ3UE8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NJ3UE8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NJ3UE8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NJ4ZB4 Noonan syndrome LD2F.15 Orphanet 648 TPD-NJ4ZB4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NJ4ZB4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NJ4ZB4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NJ4ZB4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NJ4ZB4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NJ4ZB4 Lynch syndrome 2B90.Y Orphanet 144 TPD-NJ4ZB4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NJ4ZB4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NJ8567 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NJDTCA Kennedy disease 8B61.4 Orphanet 481 TPD-NJDTCA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NJDTCA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NJDTCA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NJUXU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-NJUXU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NJUXU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NJUXU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NJUXU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NJUXU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NJUXU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-NJUXU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NJUXU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NJVL07 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NJVL07 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NJVL07 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NJVL07 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NJVSP6 Noonan syndrome LD2F.15 Orphanet 648 TPD-NJVSP6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NJVSP6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NJVSP6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NJVSP6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NJVSP6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NJVSP6 Lynch syndrome 2B90.Y Orphanet 144 TPD-NJVSP6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NJVSP6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NK0F92 Kennedy disease 8B61.4 Orphanet 481 TPD-NK0F92 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NK0F92 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NK0F92 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NK14H4 Kennedy disease 8B61.4 Orphanet 481 TPD-NK14H4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NK14H4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NK14H4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NK62RO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NK62RO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NK62RO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NK7VFR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NK7VFR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NKAAXS Noonan syndrome LD2F.15 Orphanet 648 TPD-NKAAXS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NKAAXS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NKAAXS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NKAAXS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NKAAXS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NKAAXS Lynch syndrome 2B90.Y Orphanet 144 TPD-NKAAXS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NKAAXS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NKDAQH Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-NKFCG2 Noonan syndrome LD2F.15 Orphanet 648 TPD-NKFCG2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NKFCG2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NKFCG2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NKFCG2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NKFCG2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NKFCG2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NKFCG2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NKFCG2 Craniopharyngioma 2F9A Orphanet 54595 TPD-NKFCG2 Cushing disease 5A70.0 Orphanet 96253 TPD-NKFEVA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NKFIVX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NKFIVX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NKFIVX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NKFIVX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NKP4I2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NKP4I2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NKV6FJ Noonan syndrome LD2F.15 Orphanet 648 TPD-NKV6FJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NKV6FJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NKV6FJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NKV6FJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NKV6FJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NKV6FJ Lynch syndrome 2B90.Y Orphanet 144 TPD-NKV6FJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NKV6FJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NKW2S5 Kennedy disease 8B61.4 Orphanet 481 TPD-NKW2S5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NKW2S5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NKW2S5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NKZL4M Kennedy disease 8B61.4 Orphanet 481 TPD-NKZL4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NKZL4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NKZL4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NKZZKU Familial melanoma QC61.Y Orphanet 618 TPD-NKZZKU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NL1XZ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-NL1XZ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NL1XZ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NL1XZ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NL1XZ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NL1XZ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NL1XZ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-NL1XZ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NL1XZ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NLC7L6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-NLC7L6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-NLCEQ9 Hirschsprung disease LB16.1 Orphanet 388 TPD-NLCEQ9 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-NLCFXT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NLCFXT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NLCFXT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NLCFXT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NLEKKX Kennedy disease 8B61.4 Orphanet 481 TPD-NLEKKX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NLEKKX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NLEKKX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NLFD5C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NLFD5C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NLFD5C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NLL2PD Noonan syndrome LD2F.15 Orphanet 648 TPD-NLL2PD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NLL2PD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NLL2PD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NLL2PD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NLL2PD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NLL2PD Lynch syndrome 2B90.Y Orphanet 144 TPD-NLL2PD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NLL2PD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NLRMQ2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NLRMQ2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NLVPWS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NLVPWS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NLWX60 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NLWX60 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NLX336 Kennedy disease 8B61.4 Orphanet 481 TPD-NLX336 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NLX336 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NLX336 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NLZBVO Noonan syndrome LD2F.15 Orphanet 648 TPD-NLZBVO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NLZBVO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NLZBVO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NLZBVO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NLZBVO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NLZBVO Lynch syndrome 2B90.Y Orphanet 144 TPD-NLZBVO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NLZBVO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NM1N9K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NM1N9K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NM1N9K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NM316B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NM316B Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NM7LEA Noonan syndrome LD2F.15 Orphanet 648 TPD-NM7LEA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NM7LEA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NM7LEA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NM7LEA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NM7LEA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NM7LEA Lynch syndrome 2B90.Y Orphanet 144 TPD-NM7LEA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NM7LEA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NM7T89 Kennedy disease 8B61.4 Orphanet 481 TPD-NM7T89 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NM7T89 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NM7T89 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NM8ZR8 Kennedy disease 8B61.4 Orphanet 481 TPD-NM8ZR8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NM8ZR8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NM8ZR8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NMFEOG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NMFEOG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NMGG4F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NMGG72 Noonan syndrome LD2F.15 Orphanet 648 TPD-NMGG72 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NMGG72 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NMGG72 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NMGG72 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NMGG72 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NMGG72 Lynch syndrome 2B90.Y Orphanet 144 TPD-NMGG72 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NMGG72 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NMIAJ9 Familial melanoma QC61.Y Orphanet 618 TPD-NMIAJ9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NMNNM6 Kennedy disease 8B61.4 Orphanet 481 TPD-NMNNM6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NMNNM6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NMNNM6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NMP10V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NMP10V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NMP10V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NMP10V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NMPGMF Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-NMS5K3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NMS5K3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NMT8CN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NMT8CN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NMT8CN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NMWNMT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NMWNMT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NMWNMT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NMYYIQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NMZA9E Kennedy disease 8B61.4 Orphanet 481 TPD-NMZA9E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NMZA9E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NMZA9E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NMZS0B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NMZS0B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NMZS0B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NN31P3 Familial melanoma QC61.Y Orphanet 618 TPD-NN31P3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NN51YK Noonan syndrome LD2F.15 Orphanet 648 TPD-NN51YK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NN51YK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NN51YK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NN51YK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NN51YK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NN51YK Lynch syndrome 2B90.Y Orphanet 144 TPD-NN51YK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NN51YK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NN5VVG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NN5VVG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NN8AJI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NN8AJI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NN8AJI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NNATRU Kennedy disease 8B61.4 Orphanet 481 TPD-NNATRU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NNATRU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NNATRU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NNGDE0 Noonan syndrome LD2F.15 Orphanet 648 TPD-NNGDE0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NNGDE0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NNGDE0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NNGDE0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NNGDE0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NNGDE0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NNGDE0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NNGDE0 Craniopharyngioma 2F9A Orphanet 54595 TPD-NNGDE0 Cushing disease 5A70.0 Orphanet 96253 TPD-NNKN2W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NNKN2W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NNKN2W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NNKWP1 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-NNKWP1 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-NNLPFG Familial melanoma QC61.Y Orphanet 618 TPD-NNLPFG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NNMGTN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NNMGTN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NNMGTN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NNMGTN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NNMGTN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NNMGTN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NNMGTN Semantic dementia 6D83 Orphanet 100069 TPD-NNMGTN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NNPD6Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NNPD6Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NNPD6Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NNQ1GS Familial melanoma QC61.Y Orphanet 618 TPD-NNQ1GS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NNS0KX Kennedy disease 8B61.4 Orphanet 481 TPD-NNS0KX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NNS0KX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NNS0KX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NNUDVU Noonan syndrome LD2F.15 Orphanet 648 TPD-NNUDVU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NNUDVU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NNUDVU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NNUDVU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NNUDVU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NNUDVU Lynch syndrome 2B90.Y Orphanet 144 TPD-NNUDVU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NNUDVU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NNUVW1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NNW6XZ Kennedy disease 8B61.4 Orphanet 481 TPD-NNW6XZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NNW6XZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NNW6XZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NNWEWI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NNWEWI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NNWEWI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NNWEWI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NNYLVT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NNZGLR Noonan syndrome LD2F.15 Orphanet 648 TPD-NNZGLR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NNZGLR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NNZGLR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NNZGLR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NNZGLR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NNZGLR Lynch syndrome 2B90.Y Orphanet 144 TPD-NNZGLR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NNZGLR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NO4QVK Kennedy disease 8B61.4 Orphanet 481 TPD-NO4QVK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NO4QVK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NO4QVK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NO5DUM Noonan syndrome LD2F.15 Orphanet 648 TPD-NO5DUM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NO5DUM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NO5DUM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NO5DUM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NO5DUM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NO5DUM Lynch syndrome 2B90.Y Orphanet 144 TPD-NO5DUM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NO5DUM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NO6OYV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NO6OYV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NO96GD Familial melanoma QC61.Y Orphanet 618 TPD-NO96GD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NOB8J7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NOB8J7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NOB8J7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NODJ2H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NODJ2H Neuroblastoma 2A00.11 Orphanet 635 TPD-NODJ2H Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-NODJ2H ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-NODJ2H ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-NOEILQ Kennedy disease 8B61.4 Orphanet 481 TPD-NOEILQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NOEILQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NOEILQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NOF049 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NOF049 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NOF049 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NOGXV7 Kennedy disease 8B61.4 Orphanet 481 TPD-NOGXV7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NOGXV7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NOGXV7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NOHIHG Noonan syndrome LD2F.15 Orphanet 648 TPD-NOHIHG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NOHIHG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NOHIHG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NOHIHG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NOHIHG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NOHIHG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NOHIHG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NOHIHG Craniopharyngioma 2F9A Orphanet 54595 TPD-NOHIHG Cushing disease 5A70.0 Orphanet 96253 TPD-NOI4I6 Noonan syndrome LD2F.15 Orphanet 648 TPD-NOI4I6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NOI4I6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NOI4I6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NOI4I6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NOI4I6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NOI4I6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NOI4I6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NOI4I6 Craniopharyngioma 2F9A Orphanet 54595 TPD-NOI4I6 Cushing disease 5A70.0 Orphanet 96253 TPD-NOKBMZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NOKBMZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NOKBMZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NOKBMZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NOOKD7 Noonan syndrome LD2F.15 Orphanet 648 TPD-NOOKD7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NOOKD7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NOOKD7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NOOKD7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NOOKD7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NOOKD7 Lynch syndrome 2B90.Y Orphanet 144 TPD-NOOKD7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NOOKD7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NOSRVE Familial melanoma QC61.Y Orphanet 618 TPD-NOSRVE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NOSSDU Kennedy disease 8B61.4 Orphanet 481 TPD-NOSSDU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NOSSDU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NOSSDU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NOUC62 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-NOUC62 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-NOUC62 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-NOUC62 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-NOUC62 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-NOUC62 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-NOUC62 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NOUC62 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-NOUC62 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-NOXTGU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NOXTGU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NOXTGU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NPDIS7 Noonan syndrome LD2F.15 Orphanet 648 TPD-NPDIS7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NPDIS7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NPDIS7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NPDIS7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NPDIS7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NPDIS7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NPDIS7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NPDIS7 Craniopharyngioma 2F9A Orphanet 54595 TPD-NPDIS7 Cushing disease 5A70.0 Orphanet 96253 TPD-NPFC0O CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NPH9G6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NPH9G6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NPH9G6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NPIEXE Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-NPK6QY Kennedy disease 8B61.4 Orphanet 481 TPD-NPK6QY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NPK6QY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NPK6QY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NPN4Y1 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NPNCT7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NPNFQX Kennedy disease 8B61.4 Orphanet 481 TPD-NPNFQX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NPNFQX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NPNFQX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NPRH35 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NPS9IT Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NPSE62 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NPSE62 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NPSE62 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NPSE62 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NPSE62 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NPSE62 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NPSE62 Semantic dementia 6D83 Orphanet 100069 TPD-NPSE62 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NPSM0Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NPT0QL Noonan syndrome LD2F.15 Orphanet 648 TPD-NPT0QL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NPT0QL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NPT0QL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NPT0QL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NPT0QL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NPT0QL Lynch syndrome 2B90.Y Orphanet 144 TPD-NPT0QL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NPT0QL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NPU78E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NPU78E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NPUVBU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-NPUVBU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-NPUVBU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-NPUVBU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-NPUVBU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-NPUVBU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-NPUVBU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NPUVBU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-NPUVBU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-NPW5Q1 Kennedy disease 8B61.4 Orphanet 481 TPD-NPW5Q1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NPW5Q1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NPW5Q1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NPZX65 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NQ4X6A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NQ4X6A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NQ4X6A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NQ8QWY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NQC3OR Kennedy disease 8B61.4 Orphanet 481 TPD-NQC3OR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NQC3OR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NQC3OR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NQCG77 Kennedy disease 8B61.4 Orphanet 481 TPD-NQCG77 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NQCG77 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NQCG77 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NQD83I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NQE3ZD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NQE3ZD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NQE3ZD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NQNHF0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NQNHF0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NQNV7U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NQOMEG Familial melanoma QC61.Y Orphanet 618 TPD-NQOMEG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NQU7XD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NQU7XD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NQU7XD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NQU7XD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NQV7JR Kennedy disease 8B61.4 Orphanet 481 TPD-NQV7JR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NQV7JR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NQV7JR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NQW3A6 Noonan syndrome LD2F.15 Orphanet 648 TPD-NQW3A6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NQW3A6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NQW3A6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NQW3A6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NQW3A6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NQW3A6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NQW3A6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NQW3A6 Craniopharyngioma 2F9A Orphanet 54595 TPD-NQW3A6 Cushing disease 5A70.0 Orphanet 96253 TPD-NQWLUH Kennedy disease 8B61.4 Orphanet 481 TPD-NQWLUH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NQWLUH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NQWLUH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NQWRXI Noonan syndrome LD2F.15 Orphanet 648 TPD-NQWRXI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NQWRXI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NQWRXI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NQWRXI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NQWRXI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NQWRXI Lynch syndrome 2B90.Y Orphanet 144 TPD-NQWRXI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NQWRXI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NQYRMU Kennedy disease 8B61.4 Orphanet 481 TPD-NQYRMU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NQYRMU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NQYRMU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NR3BZQ Familial melanoma QC61.Y Orphanet 618 TPD-NR3BZQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NR3WJG Weaver syndrome LD2C Orphanet 3447 TPD-NR5P2Z Kennedy disease 8B61.4 Orphanet 481 TPD-NR5P2Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NR5P2Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NR5P2Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NR5TN7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NR5TN7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NRBM2E Noonan syndrome LD2F.15 Orphanet 648 TPD-NRBM2E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NRBM2E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NRBM2E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NRBM2E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NRBM2E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NRBM2E Lynch syndrome 2B90.Y Orphanet 144 TPD-NRBM2E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NRBM2E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NRCMV1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NRCMV1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NRE4RF Kennedy disease 8B61.4 Orphanet 481 TPD-NRE4RF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NRE4RF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NRE4RF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NRHPG2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NRHPG2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NRHPG2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NRID17 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NRID17 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NRID17 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NRLOX7 Familial melanoma QC61.Y Orphanet 618 TPD-NRLOX7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NRMGO2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NRQ1MR Williams syndrome LD44.70 Orphanet 904 TPD-NRQ1MR Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-NRTT0N Kennedy disease 8B61.4 Orphanet 481 TPD-NRTT0N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NRTT0N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NRTT0N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NRUHA6 Acquired idiopathic sideroblastic anemia 2A33 Orphanet 75564 TPD-NRUHA6 Uveal melanoma 2D0Y Orphanet 39044 TPD-NRWGP3 Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-NRWH8E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NRWH8E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NRZMPM Noonan syndrome LD2F.15 Orphanet 648 TPD-NRZMPM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NRZMPM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NRZMPM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NRZMPM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NRZMPM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NRZMPM Lynch syndrome 2B90.Y Orphanet 144 TPD-NRZMPM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NRZMPM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NS3LPJ Kennedy disease 8B61.4 Orphanet 481 TPD-NS3LPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NS3LPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NS3LPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NS3RBR Kennedy disease 8B61.4 Orphanet 481 TPD-NS3RBR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NS3RBR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NS3RBR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NS5P5F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NS5P5F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NSBNEZ Noonan syndrome LD2F.15 Orphanet 648 TPD-NSBNEZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-NSCB14 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-NSCB14 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-NSDHDE Kennedy disease 8B61.4 Orphanet 481 TPD-NSDHDE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NSDHDE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NSDHDE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NSDZO7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NSDZO7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NSG9XY Kennedy disease 8B61.4 Orphanet 481 TPD-NSG9XY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NSG9XY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NSG9XY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NSGNTU Noonan syndrome LD2F.15 Orphanet 648 TPD-NSGNTU Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-NSGO8O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NSJGVI Noonan syndrome LD2F.15 Orphanet 648 TPD-NSJGVI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NSJGVI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NSJGVI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NSJGVI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NSJGVI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NSJGVI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NSJGVI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NSJGVI Craniopharyngioma 2F9A Orphanet 54595 TPD-NSJGVI Cushing disease 5A70.0 Orphanet 96253 TPD-NSK7M3 Kennedy disease 8B61.4 Orphanet 481 TPD-NSK7M3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NSK7M3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NSK7M3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NSPKPD Noonan syndrome LD2F.15 Orphanet 648 TPD-NSPKPD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NSPKPD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NSPKPD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NSPKPD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NSPKPD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NSPKPD Lynch syndrome 2B90.Y Orphanet 144 TPD-NSPKPD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NSPKPD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NSU9R1 Noonan syndrome LD2F.15 Orphanet 648 TPD-NSU9R1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NSU9R1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NSU9R1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NSU9R1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NSU9R1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NSU9R1 Lynch syndrome 2B90.Y Orphanet 144 TPD-NSU9R1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NSU9R1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NSZW61 Kennedy disease 8B61.4 Orphanet 481 TPD-NSZW61 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NSZW61 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NSZW61 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NT8MWE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-NTAQK8 Kennedy disease 8B61.4 Orphanet 481 TPD-NTAQK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NTAQK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NTAQK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NTCG6L Kennedy disease 8B61.4 Orphanet 481 TPD-NTCG6L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NTCG6L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NTCG6L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NTCS5K Kennedy disease 8B61.4 Orphanet 481 TPD-NTCS5K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NTCS5K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NTCS5K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NTDYIX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-NTF4PN Noonan syndrome LD2F.15 Orphanet 648 TPD-NTF4PN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NTF4PN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NTF4PN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NTF4PN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NTF4PN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NTF4PN Lynch syndrome 2B90.Y Orphanet 144 TPD-NTF4PN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NTF4PN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NTJ7LX Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NTJ7LX Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NTJ7LX Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NTJ7LX Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NTJ7LX Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NTJ7LX Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NTJ7LX Semantic dementia 6D83 Orphanet 100069 TPD-NTJ7LX Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NTJCF3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NTJCF3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NTJCF3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NTJCF3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NTKSDO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NTKSDO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NTMNN2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NTMNN2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NTMNN2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NTMNN2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NTMYRY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NTMYRY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NTQIW9 Kennedy disease 8B61.4 Orphanet 481 TPD-NTQIW9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NTQIW9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NTQIW9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NTR33Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NTS0EE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NTU385 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NTUS9M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NTVD5V Noonan syndrome LD2F.15 Orphanet 648 TPD-NTVD5V Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-NTYJ8I Kennedy disease 8B61.4 Orphanet 481 TPD-NTYJ8I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NTYJ8I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NTYJ8I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NTYKPW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NTYKPW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NTYOBD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NTYOBD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NTYOBD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NU96TN Noonan syndrome LD2F.15 Orphanet 648 TPD-NU96TN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NU96TN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NU96TN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NU96TN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NU96TN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NU96TN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NU96TN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NU96TN Craniopharyngioma 2F9A Orphanet 54595 TPD-NU96TN Cushing disease 5A70.0 Orphanet 96253 TPD-NUAJL5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NUB3HE Noonan syndrome LD2F.15 Orphanet 648 TPD-NUB3HE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NUB3HE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NUB3HE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NUB3HE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NUB3HE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NUB3HE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NUB3HE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NUB3HE Craniopharyngioma 2F9A Orphanet 54595 TPD-NUB3HE Cushing disease 5A70.0 Orphanet 96253 TPD-NUDYE0 Kennedy disease 8B61.4 Orphanet 481 TPD-NUDYE0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NUDYE0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NUDYE0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NUI2AX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NUI2AX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NUI2AX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NUI2AX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NUJ7D7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NUNW60 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NUNW60 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NUNW60 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NUNW60 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NUNW60 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NUNW60 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NUNW60 Semantic dementia 6D83 Orphanet 100069 TPD-NUNW60 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NUOUQ2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NUPA2X Familial melanoma QC61.Y Orphanet 618 TPD-NUPA2X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NUPMD7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NUPMD7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NUPMD7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NUPMD7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NUPMD7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NUPMD7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NUPMD7 Semantic dementia 6D83 Orphanet 100069 TPD-NUPMD7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NUY345 Noonan syndrome LD2F.15 Orphanet 648 TPD-NUY345 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NUY345 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NUY345 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NUY345 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NUY345 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NUY345 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NUY345 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NUY345 Craniopharyngioma 2F9A Orphanet 54595 TPD-NUY345 Cushing disease 5A70.0 Orphanet 96253 TPD-NUZ7BP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NUZVIE Kennedy disease 8B61.4 Orphanet 481 TPD-NUZVIE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NUZVIE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NUZVIE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NV2255 Kennedy disease 8B61.4 Orphanet 481 TPD-NV2255 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NV2255 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NV2255 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NV4ZVS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NV7EQG Kennedy disease 8B61.4 Orphanet 481 TPD-NV7EQG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NV7EQG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NV7EQG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NV9PRO Kennedy disease 8B61.4 Orphanet 481 TPD-NV9PRO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NV9PRO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NV9PRO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NVD8XQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NVD8XQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NVD8XQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NVFIPD Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NVFIPD Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NVFIPD Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NVFIPD Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NVFIPD Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NVFIPD Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NVFIPD Semantic dementia 6D83 Orphanet 100069 TPD-NVFIPD Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NVGKUC Kennedy disease 8B61.4 Orphanet 481 TPD-NVGKUC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NVGKUC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NVGKUC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NVMVIE Noonan syndrome LD2F.15 Orphanet 648 TPD-NVMVIE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NVMVIE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NVMVIE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NVMVIE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NVMVIE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NVMVIE Lynch syndrome 2B90.Y Orphanet 144 TPD-NVMVIE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NVMVIE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NVOQL2 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NVOQL2 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-NVOQL2 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-NVOQL2 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-NVOQL2 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-NVOQL2 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-NVOQL2 Semantic dementia 6D83 Orphanet 100069 TPD-NVOQL2 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-NVPQNV Kennedy disease 8B61.4 Orphanet 481 TPD-NVPQNV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NVPQNV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NVPQNV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NVRO2H Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-NVRO2H Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-NVRO2H Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NVRO2H Distal myopathy, Welander type 8C75 Orphanet 603 TPD-NVUT99 Noonan syndrome LD2F.15 Orphanet 648 TPD-NVUT99 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NVUT99 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NVUT99 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NVUT99 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NVUT99 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NVUT99 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NVUT99 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NVUT99 Craniopharyngioma 2F9A Orphanet 54595 TPD-NVUT99 Cushing disease 5A70.0 Orphanet 96253 TPD-NVUT99 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-NVVZOK Kennedy disease 8B61.4 Orphanet 481 TPD-NVVZOK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NVVZOK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NVVZOK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NVVZOK Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-NVVZOK Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-NVVZOK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-NVVZOK Distal myopathy, Welander type 8C75 Orphanet 603 TPD-NW3Y91 Noonan syndrome LD2F.15 Orphanet 648 TPD-NW3Y91 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NW3Y91 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NW3Y91 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NW3Y91 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NW3Y91 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NW3Y91 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NW3Y91 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NW3Y91 Craniopharyngioma 2F9A Orphanet 54595 TPD-NW3Y91 Cushing disease 5A70.0 Orphanet 96253 TPD-NW4836 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NW4836 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NW4836 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NW4836 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NW5GPR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NW5GPR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NW7C79 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NW7C79 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NW7C79 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NW7C79 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NW83OI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NW83OI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NW83OI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NW83OI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NWAY2Y Epithelioid hemangioendothelioma 2B5Y/XH9GF8 Orphanet 157791 TPD-NWH7Q5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-NWMI6I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NWOZ60 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NWOZ60 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-NWOZ60 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NWW0OI Noonan syndrome LD2F.15 Orphanet 648 TPD-NWW0OI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NWW0OI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NWW0OI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NWW0OI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NWW0OI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NWW0OI Lynch syndrome 2B90.Y Orphanet 144 TPD-NWW0OI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NWW0OI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NWY6FA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NWY6FA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NWY6FA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NWYBNQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NWYELV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NWYELV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NWYELV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NWYELV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NWYWC3 Kennedy disease 8B61.4 Orphanet 481 TPD-NWYWC3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NWYWC3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NWYWC3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NWZU4K Noonan syndrome LD2F.15 Orphanet 648 TPD-NWZU4K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NWZU4K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NWZU4K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NWZU4K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NWZU4K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NWZU4K Lynch syndrome 2B90.Y Orphanet 144 TPD-NWZU4K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NWZU4K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NX1FMO Noonan syndrome LD2F.15 Orphanet 648 TPD-NX1FMO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NX1FMO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NX1FMO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NX1FMO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NX1FMO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NX1FMO Lynch syndrome 2B90.Y Orphanet 144 TPD-NX1FMO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NX1FMO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NX3I36 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NX71JN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NX7WYS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NX7WYS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NX7WYS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NX7WYS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NXBTW6 Kennedy disease 8B61.4 Orphanet 481 TPD-NXBTW6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NXBTW6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NXBTW6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NXCJ8Y Noonan syndrome LD2F.15 Orphanet 648 TPD-NXCJ8Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NXCJ8Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NXCJ8Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NXCJ8Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NXCJ8Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NXCJ8Y Lynch syndrome 2B90.Y Orphanet 144 TPD-NXCJ8Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NXCJ8Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NXHFY3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NXHFY3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NXN12H Kennedy disease 8B61.4 Orphanet 481 TPD-NXN12H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NXN12H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NXN12H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NXRNLA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NXRUIL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NXSE1E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-NXSE1E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-NXTZ5K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NXTZ5K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NXTZ5K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NXTZ5K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NXULO4 Noonan syndrome LD2F.15 Orphanet 648 TPD-NXULO4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NXULO4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-NXULO4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NXULO4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NXULO4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-NXULO4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-NXULO4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-NXULO4 Craniopharyngioma 2F9A Orphanet 54595 TPD-NXULO4 Cushing disease 5A70.0 Orphanet 96253 TPD-NXV304 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NXV304 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NXV304 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NY2G2V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NY395W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NY395W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NY395W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NY395W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NY8ZQF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NY8ZQF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NY8ZQF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NY9P64 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-NY9P64 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-NY9P64 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-NYF722 Familial melanoma QC61.Y Orphanet 618 TPD-NYF722 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NYG1VN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NYGL4U Kennedy disease 8B61.4 Orphanet 481 TPD-NYGL4U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NYGL4U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NYGL4U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NYJJOZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NYKDPE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NYKDPE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NYKRL8 Kennedy disease 8B61.4 Orphanet 481 TPD-NYKRL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NYKRL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NYKRL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NYLH6Z Kennedy disease 8B61.4 Orphanet 481 TPD-NYLH6Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NYLH6Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NYLH6Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NYSER3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NYSER3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NYSJ8Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-NYWD03 Kennedy disease 8B61.4 Orphanet 481 TPD-NYWD03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NYWD03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NYWD03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NYWKKZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NYWZH0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NYX5B5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-NYY8JI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-NYY8JI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-NZ5HR7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NZ5HR7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-NZ8HVL Familial melanoma QC61.Y Orphanet 618 TPD-NZ8HVL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NZ8PPS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-NZ8PPS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-NZDE8H Burkitt lymphoma XH4KA9 Orphanet 543 TPD-NZDE8H Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-NZDE8H Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-NZKG9C Kennedy disease 8B61.4 Orphanet 481 TPD-NZKG9C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NZKG9C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NZKG9C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NZLA63 Familial melanoma QC61.Y Orphanet 618 TPD-NZLA63 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-NZNH77 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NZOIVO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-NZOIVO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-NZOIVO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-NZOIVO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-NZOIVO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-NZOIVO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-NZOIVO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NZOIVO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-NZOIVO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-NZOQCH Kennedy disease 8B61.4 Orphanet 481 TPD-NZOQCH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NZOQCH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NZOQCH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NZTJ0M Noonan syndrome LD2F.15 Orphanet 648 TPD-NZTJ0M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-NZTJ0M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-NZTJ0M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-NZTJ0M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-NZTJ0M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-NZTJ0M Lynch syndrome 2B90.Y Orphanet 144 TPD-NZTJ0M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-NZTJ0M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-NZU5CG Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-NZUYCP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-NZUYCP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-NZUYCP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-NZUYCP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-NZXO2V Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-NZYK8E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-NZZGW5 Kennedy disease 8B61.4 Orphanet 481 TPD-NZZGW5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NZZGW5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NZZGW5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-NZZGYK Kennedy disease 8B61.4 Orphanet 481 TPD-NZZGYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-NZZGYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-NZZGYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O00DKY Kennedy disease 8B61.4 Orphanet 481 TPD-O00DKY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O00DKY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O00DKY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O034XS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O034XS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O05KPW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O0BFRL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-O0BFRL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-O0F3EK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O0F3EK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O0F3EK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O0FFGD Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-O0FFGD Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-O0G6DJ Noonan syndrome LD2F.15 Orphanet 648 TPD-O0G6DJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O0G6DJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O0G6DJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O0G6DJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O0G6DJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O0G6DJ Lynch syndrome 2B90.Y Orphanet 144 TPD-O0G6DJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O0G6DJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O0G8FF Kennedy disease 8B61.4 Orphanet 481 TPD-O0G8FF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O0G8FF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O0G8FF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O0HSV1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O0HSV1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O0HSV1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O0IYZ2 Kennedy disease 8B61.4 Orphanet 481 TPD-O0IYZ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O0IYZ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O0IYZ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O0OLNA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O0OLNA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O0OLNA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O0Y75F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O0ZORG Noonan syndrome LD2F.15 Orphanet 648 TPD-O0ZORG Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-O127BP Kennedy disease 8B61.4 Orphanet 481 TPD-O127BP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O127BP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O127BP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O144IK Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-O144IK Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-O16JH4 Noonan syndrome LD2F.15 Orphanet 648 TPD-O16JH4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O16JH4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O16JH4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O16JH4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O16JH4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O16JH4 Lynch syndrome 2B90.Y Orphanet 144 TPD-O16JH4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O16JH4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O17H7F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O18NKN Kennedy disease 8B61.4 Orphanet 481 TPD-O18NKN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O18NKN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O18NKN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O18XN7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O18XN7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O18XN7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O18XN7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O19EGY Familial melanoma QC61.Y Orphanet 618 TPD-O19Y2F Kennedy disease 8B61.4 Orphanet 481 TPD-O19Y2F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O19Y2F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O19Y2F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O1APV8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-O1BFU9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O1BFU9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O1BFU9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O1CV2R Kennedy disease 8B61.4 Orphanet 481 TPD-O1CV2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O1CV2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O1CV2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O1HOQZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O1HOQZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O1HOQZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O1HUVQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O1HUVQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-O1HUVQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O1MC5Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O1MC5Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O1MC5Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O1N6GH Noonan syndrome LD2F.15 Orphanet 648 TPD-O1N6GH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O1N6GH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O1N6GH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O1N6GH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O1N6GH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O1N6GH Lynch syndrome 2B90.Y Orphanet 144 TPD-O1N6GH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O1N6GH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O1Q9QU Kennedy disease 8B61.4 Orphanet 481 TPD-O1Q9QU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O1Q9QU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O1Q9QU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O1RHUF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O1RHUF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O1RHUF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O1RHUF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O1UINP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O1UINP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O1VKQP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O1VKQP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O1VKQP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O1VKQP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O1W6LH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O1W6LH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O254W7 Kennedy disease 8B61.4 Orphanet 481 TPD-O254W7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O254W7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O254W7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O2B9DV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O2B9DV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O2B9DV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O2FX1K Kennedy disease 8B61.4 Orphanet 481 TPD-O2FX1K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O2FX1K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O2FX1K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O2TO4M Kennedy disease 8B61.4 Orphanet 481 TPD-O2TO4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O2TO4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O2TO4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O2UF7C Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O2UWP4 Kennedy disease 8B61.4 Orphanet 481 TPD-O2UWP4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O2UWP4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O2UWP4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O2VYLN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O2VYLN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O2VYLN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O2WDA3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O2WDA3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O2ZB18 Familial melanoma QC61.Y Orphanet 618 TPD-O2ZB18 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O35TUN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O35TUN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O35TUN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O35TUN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O399MR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O399MR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O3CO6G Kennedy disease 8B61.4 Orphanet 481 TPD-O3CO6G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O3CO6G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O3CO6G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O3ESG8 Familial melanoma QC61.Y Orphanet 618 TPD-O3ESG8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O3F0DV Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-O3F0DV Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-O3HB26 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O3M5IS Kennedy disease 8B61.4 Orphanet 481 TPD-O3M5IS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O3M5IS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O3M5IS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O3Q81F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-O3QGWL Kennedy disease 8B61.4 Orphanet 481 TPD-O3QGWL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O3QGWL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O3QGWL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O3QHHC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O3SLY5 Noonan syndrome LD2F.15 Orphanet 648 TPD-O3SLY5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O3SLY5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O3SLY5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O3SLY5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O3SLY5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O3SLY5 Lynch syndrome 2B90.Y Orphanet 144 TPD-O3SLY5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O3SLY5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O3T5C8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O3T5C8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O3VO1B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O40FAA Kennedy disease 8B61.4 Orphanet 481 TPD-O40FAA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O40FAA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O40FAA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O40K7D Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-O40NQO Kennedy disease 8B61.4 Orphanet 481 TPD-O40NQO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O40NQO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O40NQO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O40T67 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O40T67 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O44L43 Kennedy disease 8B61.4 Orphanet 481 TPD-O44L43 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O44L43 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O44L43 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O4504K Kennedy disease 8B61.4 Orphanet 481 TPD-O4504K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O4504K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O4504K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O465BB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O465BB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O465BB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O48952 Hirschsprung disease LB16.1 Orphanet 388 TPD-O48952 Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-O48952 Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-O48N7K Kennedy disease 8B61.4 Orphanet 481 TPD-O48N7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O48N7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O48N7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O49PGG Kennedy disease 8B61.4 Orphanet 481 TPD-O49PGG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O49PGG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O49PGG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O4BPLL Kennedy disease 8B61.4 Orphanet 481 TPD-O4BPLL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O4BPLL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O4BPLL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O4BXF5 Noonan syndrome LD2F.15 Orphanet 648 TPD-O4BXF5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O4BXF5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O4BXF5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O4BXF5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O4BXF5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O4BXF5 Lynch syndrome 2B90.Y Orphanet 144 TPD-O4BXF5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O4BXF5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O4CAGX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O4D708 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O4GY6U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O4K1TH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O4K1TH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O4K1TH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O4LNRO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O4LNRO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O4LNRO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O4NV86 Kennedy disease 8B61.4 Orphanet 481 TPD-O4NV86 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O4NV86 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O4NV86 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O4OA68 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O4OA68 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-O4OA68 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O4OGEM Kennedy disease 8B61.4 Orphanet 481 TPD-O4OGEM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O4OGEM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O4OGEM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O4QPBD Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-O4TSYS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O4TSYS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O4VUH0 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-O4VUH0 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-O4XVMJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O4XVMJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O4YAHW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O518GP Noonan syndrome LD2F.15 Orphanet 648 TPD-O518GP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-O518GP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-O518GP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O518GP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O518GP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-O518GP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-O518GP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-O518GP Craniopharyngioma 2F9A Orphanet 54595 TPD-O518GP Cushing disease 5A70.0 Orphanet 96253 TPD-O52QEB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O546DR Noonan syndrome LD2F.15 Orphanet 648 TPD-O546DR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-O546DR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-O546DR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O546DR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O546DR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-O546DR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-O546DR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-O546DR Craniopharyngioma 2F9A Orphanet 54595 TPD-O546DR Cushing disease 5A70.0 Orphanet 96253 TPD-O56OJB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O56UT7 Kennedy disease 8B61.4 Orphanet 481 TPD-O56UT7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O56UT7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O56UT7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O573EZ Familial melanoma QC61.Y Orphanet 618 TPD-O573EZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O58XJP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O5EQVM Noonan syndrome LD2F.15 Orphanet 648 TPD-O5EQVM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O5EQVM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O5EQVM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O5EQVM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O5EQVM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O5EQVM Lynch syndrome 2B90.Y Orphanet 144 TPD-O5EQVM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O5EQVM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O5H22X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O5H22X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O5H22X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O5HN8Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O5HN8Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O5HN8Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O5HN8Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O5IC2J Noonan syndrome LD2F.15 Orphanet 648 TPD-O5IC2J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O5IC2J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O5IC2J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O5IC2J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O5IC2J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O5IC2J Lynch syndrome 2B90.Y Orphanet 144 TPD-O5IC2J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O5IC2J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O5K238 Noonan syndrome LD2F.15 Orphanet 648 TPD-O5K238 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-O5LDGP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O5LSFY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O5RN4O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O5UJCE Kennedy disease 8B61.4 Orphanet 481 TPD-O5UJCE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O5UJCE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O5UJCE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O5UMUE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O5UMUE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O5WAUQ Familial melanoma QC61.Y Orphanet 618 TPD-O5WAUQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O5XK21 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O5XK21 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O5XK21 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O5Y64L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O5Y64L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-O5Y64L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O5Z0SX Kennedy disease 8B61.4 Orphanet 481 TPD-O5Z0SX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O5Z0SX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O5Z0SX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O61TZQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O61TZQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O61TZQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O62CB1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O636OM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O636OM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O636OM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O648GQ Noonan syndrome LD2F.15 Orphanet 648 TPD-O648GQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-O66G0N Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-O68RDE Kennedy disease 8B61.4 Orphanet 481 TPD-O68RDE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O68RDE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O68RDE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O698QZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O698QZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O69Y9F Kennedy disease 8B61.4 Orphanet 481 TPD-O69Y9F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O69Y9F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O69Y9F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O6CHSG Noonan syndrome LD2F.15 Orphanet 648 TPD-O6CHSG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O6CHSG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O6CHSG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O6CHSG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O6CHSG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O6CHSG Lynch syndrome 2B90.Y Orphanet 144 TPD-O6CHSG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O6CHSG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O6FSG3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O6FSG3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O6FSG3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O6FZCI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O6FZCI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O6QMXR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O6QMXR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-O6QMXR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O6RB60 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O6RB60 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O6RB60 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O6RUBX Noonan syndrome LD2F.15 Orphanet 648 TPD-O6RUBX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O6RUBX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O6RUBX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O6RUBX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O6RUBX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O6RUBX Lynch syndrome 2B90.Y Orphanet 144 TPD-O6RUBX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O6RUBX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O6SL07 Kennedy disease 8B61.4 Orphanet 481 TPD-O6SL07 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O6SL07 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O6SL07 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O6UTMW Kennedy disease 8B61.4 Orphanet 481 TPD-O6UTMW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O6UTMW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O6UTMW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O6YC4K Kennedy disease 8B61.4 Orphanet 481 TPD-O6YC4K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O6YC4K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O6YC4K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O72PJ2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O72PJ2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O72VIY Noonan syndrome LD2F.15 Orphanet 648 TPD-O72VIY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O72VIY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O72VIY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O72VIY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O72VIY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O72VIY Lynch syndrome 2B90.Y Orphanet 144 TPD-O72VIY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O72VIY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O74EFJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-O75JPC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-O799OH Weaver syndrome LD2C Orphanet 3447 TPD-O7C5OK Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-O7DDGQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-O7GMMO Noonan syndrome LD2F.15 Orphanet 648 TPD-O7GMMO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O7GMMO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O7GMMO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O7GMMO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O7GMMO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O7GMMO Lynch syndrome 2B90.Y Orphanet 144 TPD-O7GMMO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O7GMMO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O7JMJM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O7L8MP Kennedy disease 8B61.4 Orphanet 481 TPD-O7L8MP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O7L8MP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O7L8MP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O7MOER Noonan syndrome LD2F.15 Orphanet 648 TPD-O7MOER Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O7MOER Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O7MOER Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O7MOER Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O7MOER Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O7MOER Lynch syndrome 2B90.Y Orphanet 144 TPD-O7MOER Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O7MOER Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O7NEXN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O7NEXN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O7NEXN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O7RAZP Noonan syndrome LD2F.15 Orphanet 648 TPD-O7RAZP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O7RAZP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O7RAZP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O7RAZP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O7RAZP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O7RAZP Lynch syndrome 2B90.Y Orphanet 144 TPD-O7RAZP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O7RAZP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O7S0LY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O7S1FO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O7S1FO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O7S1FO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O7S39J Noonan syndrome LD2F.15 Orphanet 648 TPD-O7S39J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O7S39J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O7S39J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O7S39J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O7S39J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O7S39J Lynch syndrome 2B90.Y Orphanet 144 TPD-O7S39J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O7S39J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O7XFRF Noonan syndrome LD2F.15 Orphanet 648 TPD-O7XFRF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O7XFRF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O7XFRF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O7XFRF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O7XFRF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O7XFRF Lynch syndrome 2B90.Y Orphanet 144 TPD-O7XFRF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O7XFRF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O7YFSX Kennedy disease 8B61.4 Orphanet 481 TPD-O7YFSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O7YFSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O7YFSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O7ZW6Q Kennedy disease 8B61.4 Orphanet 481 TPD-O7ZW6Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O7ZW6Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O7ZW6Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O818NQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O85564 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O85564 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-O85Z6A Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-O85Z6A Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-O85Z6A Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-O85Z6A Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-O85Z6A Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-O85Z6A Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-O85Z6A Semantic dementia 6D83 Orphanet 100069 TPD-O85Z6A Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-O892UQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O892UQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O892UQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O89L7A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-O8A78W Noonan syndrome LD2F.15 Orphanet 648 TPD-O8A78W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O8A78W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O8A78W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O8A78W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O8A78W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O8A78W Lynch syndrome 2B90.Y Orphanet 144 TPD-O8A78W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O8A78W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O8B6ES Burkitt lymphoma XH4KA9 Orphanet 543 TPD-O8B6ES Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-O8HUYZ Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-O8HWLA Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-O8KCRN Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-O8KMV6 Noonan syndrome LD2F.15 Orphanet 648 TPD-O8KMV6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O8KMV6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O8KMV6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O8KMV6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O8KMV6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O8KMV6 Lynch syndrome 2B90.Y Orphanet 144 TPD-O8KMV6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O8KMV6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O8L9Y6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O8NS5G Noonan syndrome LD2F.15 Orphanet 648 TPD-O8NS5G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-O8NS5G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-O8NS5G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O8NS5G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O8NS5G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-O8NS5G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-O8NS5G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-O8NS5G Craniopharyngioma 2F9A Orphanet 54595 TPD-O8NS5G Cushing disease 5A70.0 Orphanet 96253 TPD-O8SU5F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O8SU5F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O8SU5F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O8TNYW Kennedy disease 8B61.4 Orphanet 481 TPD-O8TNYW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O8TNYW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O8TNYW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O8Y9N7 Familial melanoma QC61.Y Orphanet 618 TPD-O8Y9N7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O8Z2GY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O8Z2GY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O8Z2GY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O8Z2GY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O8ZIO8 Kennedy disease 8B61.4 Orphanet 481 TPD-O8ZIO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O8ZIO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O8ZIO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O8ZOSE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O8ZOSE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O8ZOSE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O90BC2 Noonan syndrome LD2F.15 Orphanet 648 TPD-O90BC2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-O90BC2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-O90BC2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O90BC2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O90BC2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-O90BC2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-O90BC2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-O90BC2 Craniopharyngioma 2F9A Orphanet 54595 TPD-O90BC2 Cushing disease 5A70.0 Orphanet 96253 TPD-O90SK2 Familial melanoma QC61.Y Orphanet 618 TPD-O90SK2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O912J1 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-O912J1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-O912J1 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-O924Z9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O924Z9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O924Z9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O9385F Kennedy disease 8B61.4 Orphanet 481 TPD-O9385F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O9385F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O9385F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O9663A Familial melanoma QC61.Y Orphanet 618 TPD-O9663A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O99714 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-O99O9Z Weaver syndrome LD2C Orphanet 3447 TPD-O9AAF5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-O9AAF5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-O9BW6T Familial melanoma QC61.Y Orphanet 618 TPD-O9BW6T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-O9CAXJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O9CAXJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O9G3ZB Noonan syndrome LD2F.15 Orphanet 648 TPD-O9G3ZB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-O9G3ZB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-O9G3ZB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-O9G3ZB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-O9G3ZB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-O9G3ZB Lynch syndrome 2B90.Y Orphanet 144 TPD-O9G3ZB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-O9G3ZB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-O9GFL6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-O9HDRX Kennedy disease 8B61.4 Orphanet 481 TPD-O9HDRX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O9HDRX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O9HDRX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O9IIW5 Kennedy disease 8B61.4 Orphanet 481 TPD-O9IIW5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O9IIW5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O9IIW5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O9P7WU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O9P7WU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O9P7WU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O9V6NJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-O9V6NJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-O9V6NJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-O9VE5G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O9VE5G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O9VE5G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O9VE5G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O9WYEX Kennedy disease 8B61.4 Orphanet 481 TPD-O9WYEX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-O9WYEX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-O9WYEX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-O9XCVG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-O9XCVG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-O9XCVG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-O9Y2LT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-O9Y2LT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-O9Y2LT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-O9Y2LT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-O9Y48G Familial melanoma QC61.Y Orphanet 618 TPD-O9Y48G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OA1EMI Kennedy disease 8B61.4 Orphanet 481 TPD-OA1EMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OA1EMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OA1EMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OA1U8M Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OA2TGI Noonan syndrome LD2F.15 Orphanet 648 TPD-OA2TGI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OA2TGI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OA2TGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OA2TGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OA2TGI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OA2TGI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OA2TGI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OA2TGI Craniopharyngioma 2F9A Orphanet 54595 TPD-OA2TGI Cushing disease 5A70.0 Orphanet 96253 TPD-OA553Q Kennedy disease 8B61.4 Orphanet 481 TPD-OA553Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OA553Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OA553Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OA68VO Noonan syndrome LD2F.15 Orphanet 648 TPD-OA68VO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OA68VO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OA68VO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OA68VO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OA68VO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OA68VO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OA68VO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OA68VO Craniopharyngioma 2F9A Orphanet 54595 TPD-OA68VO Cushing disease 5A70.0 Orphanet 96253 TPD-OAA5DN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OAA5DN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OAB0Q3 Familial melanoma QC61.Y Orphanet 618 TPD-OAB0Q3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OAEAIU Kennedy disease 8B61.4 Orphanet 481 TPD-OAEAIU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OAEAIU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OAEAIU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OAK10D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OAK10D Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OAK10D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OAK1H8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OAK1H8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OAK1H8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OAK1H8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OALBDH Kennedy disease 8B61.4 Orphanet 481 TPD-OALBDH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OALBDH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OALBDH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OAMCGO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OAMCGO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OAMCGO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OAO512 Noonan syndrome LD2F.15 Orphanet 648 TPD-OAO512 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OAO512 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OAO512 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OAO512 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OAO512 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OAO512 Lynch syndrome 2B90.Y Orphanet 144 TPD-OAO512 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OAO512 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OAPN0V Familial melanoma QC61.Y Orphanet 618 TPD-OAUODU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OAUYSH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OAUYSH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OAUYSH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OAUYSH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OAUYSH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OAUYSH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OAUYSH Semantic dementia 6D83 Orphanet 100069 TPD-OAUYSH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OAXDJU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OAXU7F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OAXU7F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OB154R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OB154R Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OB2IG5 Kennedy disease 8B61.4 Orphanet 481 TPD-OB2IG5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OB2IG5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OB2IG5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OB2S7Q Familial melanoma QC61.Y Orphanet 618 TPD-OB2S7Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OB38RM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OB3AQP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OB3AQP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OB4GF2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OB4GF2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OB4GF2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OB5NUO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OB631U Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OB83V9 Noonan syndrome LD2F.15 Orphanet 648 TPD-OB83V9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OB83V9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OB83V9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OB83V9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OB83V9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OB83V9 Lynch syndrome 2B90.Y Orphanet 144 TPD-OB83V9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OB83V9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OBBP83 Noonan syndrome LD2F.15 Orphanet 648 TPD-OBBP83 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OBBP83 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OBBP83 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OBBP83 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OBBP83 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OBBP83 Lynch syndrome 2B90.Y Orphanet 144 TPD-OBBP83 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OBBP83 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OBDLJ9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OBDLJ9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OBDLJ9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OBDLJ9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OBFWNT Noonan syndrome LD2F.15 Orphanet 648 TPD-OBFWNT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OBFWNT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OBFWNT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OBFWNT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OBFWNT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OBFWNT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OBFWNT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OBFWNT Craniopharyngioma 2F9A Orphanet 54595 TPD-OBFWNT Cushing disease 5A70.0 Orphanet 96253 TPD-OBJEHD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OBJEHD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OBQ6LI Familial melanoma QC61.Y Orphanet 618 TPD-OBQ6LI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OBS45N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OBS45N Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OBS45N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OBS6BD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OBS6BD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OBZI76 Noonan syndrome LD2F.15 Orphanet 648 TPD-OBZI76 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OBZI76 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OBZI76 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OBZI76 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OBZI76 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OBZI76 Lynch syndrome 2B90.Y Orphanet 144 TPD-OBZI76 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OBZI76 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OC3SJ4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OC3SJ4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OC3SJ4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OC3SJ4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OC3Y0V Kennedy disease 8B61.4 Orphanet 481 TPD-OC3Y0V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OC3Y0V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OC3Y0V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OC5C4D Noonan syndrome LD2F.15 Orphanet 648 TPD-OC5C4D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OC5C4D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OC5C4D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OC5C4D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OC5C4D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OC5C4D Lynch syndrome 2B90.Y Orphanet 144 TPD-OC5C4D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OC5C4D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OCHPM6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OCHPM6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OCHPM6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OCLJY2 Kennedy disease 8B61.4 Orphanet 481 TPD-OCLJY2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OCLJY2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OCLJY2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OCMU3C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OCMU3C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OCP3WV Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-OCP3WV Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-OCP3WV Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-OCRQVU Kennedy disease 8B61.4 Orphanet 481 TPD-OCRQVU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OCRQVU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OCRQVU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OCS33E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OCS33E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OCS33E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OCS33E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OCSPQ9 Familial melanoma QC61.Y Orphanet 618 TPD-OCSPQ9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OCUDME Noonan syndrome LD2F.15 Orphanet 648 TPD-OCUDME Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OCUDME Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OCUDME Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OCUDME Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OCUDME Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OCUDME Lynch syndrome 2B90.Y Orphanet 144 TPD-OCUDME Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OCUDME Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OCXD5W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OCXD5W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OD31S6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OD31S6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OD3A9R Noonan syndrome LD2F.15 Orphanet 648 TPD-OD3A9R Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OD3A9R Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OD3A9R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OD3A9R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OD3A9R Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OD3A9R Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OD3A9R Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OD3A9R Craniopharyngioma 2F9A Orphanet 54595 TPD-OD3A9R Cushing disease 5A70.0 Orphanet 96253 TPD-OD3EBC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OD3EBC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OD9CLQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ODCERZ Kennedy disease 8B61.4 Orphanet 481 TPD-ODCERZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ODCERZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ODCERZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ODDTC9 Kennedy disease 8B61.4 Orphanet 481 TPD-ODDTC9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ODDTC9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ODDTC9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ODEF7H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ODEF7H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ODEF7H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ODN4HV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ODODF6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ODU4P4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ODWFP1 Kennedy disease 8B61.4 Orphanet 481 TPD-ODWFP1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ODWFP1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ODWFP1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ODX3PN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ODX3PN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OE0LA4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OE0LA4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OE2VYO Familial melanoma QC61.Y Orphanet 618 TPD-OE2VYO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OE5PG4 Achondroplasia LD24.00 Orphanet 15 TPD-OE5PG4 Hypochondroplasia LD24.01 Orphanet 429 TPD-OE5PG4 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-OE5PG4 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-OE5PG4 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-OE5PG4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OE5PG4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OE5PG4 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-OE5PG4 Muenke syndrome LD24.GY Orphanet 53271 TPD-OE5PG4 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-OE5PG4 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-OE5PG4 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-OE62FM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OE7JP9 Noonan syndrome LD2F.15 Orphanet 648 TPD-OE7JP9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OE7JP9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OE7JP9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OE7JP9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OE7JP9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OE7JP9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OE7JP9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OE7JP9 Craniopharyngioma 2F9A Orphanet 54595 TPD-OE7JP9 Cushing disease 5A70.0 Orphanet 96253 TPD-OE7QC8 Kennedy disease 8B61.4 Orphanet 481 TPD-OE7QC8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OE7QC8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OE7QC8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OE9AQI Kennedy disease 8B61.4 Orphanet 481 TPD-OE9AQI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OE9AQI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OE9AQI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OEC2EB Kennedy disease 8B61.4 Orphanet 481 TPD-OEC2EB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OEC2EB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OEC2EB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OEDP27 Noonan syndrome LD2F.15 Orphanet 648 TPD-OEDP27 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OEDP27 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OEDP27 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OEDP27 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OEDP27 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OEDP27 Lynch syndrome 2B90.Y Orphanet 144 TPD-OEDP27 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OEDP27 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OEFOKD Kennedy disease 8B61.4 Orphanet 481 TPD-OEFOKD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OEFOKD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OEFOKD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OEFZN6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OEFZN6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OEFZN6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OEGW0X CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OEH72M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OELVJN Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-OELVJN Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-OEMCBG Kennedy disease 8B61.4 Orphanet 481 TPD-OEMCBG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OEMCBG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OEMCBG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OES2JI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-OES2JI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-OESHCQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OESHCQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OEY4GR Kennedy disease 8B61.4 Orphanet 481 TPD-OEY4GR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OEY4GR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OEY4GR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OEYD1A B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OEYD1A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OEYD1A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OF2RUB Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-OF8JPD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OF8JPD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OF9A5N Noonan syndrome LD2F.15 Orphanet 648 TPD-OF9A5N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OF9A5N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OF9A5N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OF9A5N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OF9A5N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OF9A5N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OF9A5N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OF9A5N Craniopharyngioma 2F9A Orphanet 54595 TPD-OF9A5N Cushing disease 5A70.0 Orphanet 96253 TPD-OF9A5N Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-OFA19E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OFA19E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OFA19E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OFA19E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OFAIH5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OFAIH5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OFAIH5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OFAIH5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OFD9CV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OFIZQT Noonan syndrome LD2F.15 Orphanet 648 TPD-OFIZQT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OFIZQT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OFIZQT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OFIZQT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OFIZQT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OFIZQT Lynch syndrome 2B90.Y Orphanet 144 TPD-OFIZQT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OFIZQT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OFKILD Noonan syndrome LD2F.15 Orphanet 648 TPD-OFKILD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OFKILD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OFKILD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OFKILD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OFKILD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OFKILD Lynch syndrome 2B90.Y Orphanet 144 TPD-OFKILD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OFKILD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OFLD9F Kennedy disease 8B61.4 Orphanet 481 TPD-OFLD9F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OFLD9F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OFLD9F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OFN85L Familial melanoma QC61.Y Orphanet 618 TPD-OFN85L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OFODJ4 Familial melanoma QC61.Y Orphanet 618 TPD-OFODJ4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OFUMN9 Kennedy disease 8B61.4 Orphanet 481 TPD-OFUMN9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OFUMN9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OFUMN9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OFV71K Noonan syndrome LD2F.15 Orphanet 648 TPD-OFV71K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OFV71K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OFV71K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OFV71K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OFV71K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OFV71K Lynch syndrome 2B90.Y Orphanet 144 TPD-OFV71K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OFV71K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OFVV6M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OFVV6M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OFVV6M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OFZ5XF Kennedy disease 8B61.4 Orphanet 481 TPD-OFZ5XF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OFZ5XF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OFZ5XF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OG36H5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OG36H5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OG36H5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OGBO1S Noonan syndrome LD2F.15 Orphanet 648 TPD-OGBO1S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OGBO1S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OGBO1S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OGBO1S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OGBO1S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OGBO1S Lynch syndrome 2B90.Y Orphanet 144 TPD-OGBO1S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OGBO1S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OGG9XN Noonan syndrome LD2F.15 Orphanet 648 TPD-OGG9XN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OGG9XN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OGG9XN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OGG9XN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OGG9XN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OGG9XN Lynch syndrome 2B90.Y Orphanet 144 TPD-OGG9XN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OGG9XN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OGI5C6 Familial melanoma QC61.Y Orphanet 618 TPD-OGI5C6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OGIDRE Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-OGINSV Noonan syndrome LD2F.15 Orphanet 648 TPD-OGINSV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OGINSV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OGINSV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OGINSV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OGINSV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OGINSV Lynch syndrome 2B90.Y Orphanet 144 TPD-OGINSV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OGINSV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OGIW8F Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OGKRW8 Noonan syndrome LD2F.15 Orphanet 648 TPD-OGKRW8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OGKRW8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OGKRW8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OGKRW8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OGKRW8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OGKRW8 Lynch syndrome 2B90.Y Orphanet 144 TPD-OGKRW8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OGKRW8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OGMJJO Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-OGMJJO Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-OGMJJO Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-OGMJJO Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-OGMJJO Craniopharyngioma 2F9A Orphanet 54595 TPD-OGMJJO Pilomatrixoma 2F22 Orphanet 91414 TPD-OGMJJO Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-OGRJ66 Kennedy disease 8B61.4 Orphanet 481 TPD-OGRJ66 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OGRJ66 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OGRJ66 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OGV15B Kennedy disease 8B61.4 Orphanet 481 TPD-OGV15B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OGV15B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OGV15B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OGZF5N Noonan syndrome LD2F.15 Orphanet 648 TPD-OGZF5N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OGZF5N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OGZF5N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OGZF5N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OGZF5N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OGZF5N Lynch syndrome 2B90.Y Orphanet 144 TPD-OGZF5N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OGZF5N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OH1O61 Noonan syndrome LD2F.15 Orphanet 648 TPD-OH1O61 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OH1O61 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OH1O61 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OH1O61 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OH1O61 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OH1O61 Lynch syndrome 2B90.Y Orphanet 144 TPD-OH1O61 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OH1O61 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OH5EGG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OH5EGG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OH5EGG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OH6PMT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OH6PMT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OH6PMT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OH6PMT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OH6PMT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OH6PMT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OH6PMT Semantic dementia 6D83 Orphanet 100069 TPD-OH6PMT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OH8CZ7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OH8CZ7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OH8CZ7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OH8CZ7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OHD9FC Kennedy disease 8B61.4 Orphanet 481 TPD-OHD9FC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OHD9FC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OHD9FC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OHHCGP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OHHCGP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OHN5WU Kennedy disease 8B61.4 Orphanet 481 TPD-OHN5WU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OHN5WU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OHN5WU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OHNMD9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OHNONC Kennedy disease 8B61.4 Orphanet 481 TPD-OHNONC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OHNONC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OHNONC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OHO0M8 Noonan syndrome LD2F.15 Orphanet 648 TPD-OHO0M8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OHO0M8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OHO0M8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OHO0M8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OHO0M8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OHO0M8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OHO0M8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OHO0M8 Craniopharyngioma 2F9A Orphanet 54595 TPD-OHO0M8 Cushing disease 5A70.0 Orphanet 96253 TPD-OHQ2DX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OHSBBQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OHSBBQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OHSBBQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OHUMQ6 Kennedy disease 8B61.4 Orphanet 481 TPD-OHUMQ6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OHUMQ6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OHUMQ6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OHZ6QW Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-OHZOZD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OHZOZD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OHZOZD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OHZOZD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OHZXTA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OI0292 Kennedy disease 8B61.4 Orphanet 481 TPD-OI0292 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OI0292 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OI0292 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OI0G99 Noonan syndrome LD2F.15 Orphanet 648 TPD-OI0G99 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OI0G99 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OI0G99 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OI0G99 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OI0G99 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OI0G99 Lynch syndrome 2B90.Y Orphanet 144 TPD-OI0G99 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OI0G99 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OI98WK Kennedy disease 8B61.4 Orphanet 481 TPD-OI98WK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OI98WK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OI98WK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OIAIOM Kennedy disease 8B61.4 Orphanet 481 TPD-OIAIOM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OIAIOM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OIAIOM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OIKYFZ Weaver syndrome LD2C Orphanet 3447 TPD-OIOUNF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OIPU47 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OIQGGH Kennedy disease 8B61.4 Orphanet 481 TPD-OIQGGH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OIQGGH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OIQGGH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OISCPM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OISCPM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OISCPM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OIST1F Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OIZWXH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OIZWXH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OIZWXH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OIZY75 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OIZYYX Weaver syndrome LD2C Orphanet 3447 TPD-OJ1LCY Kennedy disease 8B61.4 Orphanet 481 TPD-OJ1LCY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OJ1LCY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OJ1LCY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OJ34YG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OJ34YG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OJ34YG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OJAENV Noonan syndrome LD2F.15 Orphanet 648 TPD-OJAENV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OJAENV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OJAENV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OJAENV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OJAENV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OJAENV Lynch syndrome 2B90.Y Orphanet 144 TPD-OJAENV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OJAENV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OJCTY9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OJCTY9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OJCTY9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OJCTY9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OJHL8S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-OJHZ6D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OJI1R7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OJI1R7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OJIDNQ Kennedy disease 8B61.4 Orphanet 481 TPD-OJIDNQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OJIDNQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OJIDNQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OJJ4AN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OJJJJN Noonan syndrome LD2F.15 Orphanet 648 TPD-OJJJJN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OJJJJN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OJJJJN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OJJJJN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OJJJJN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OJJJJN Lynch syndrome 2B90.Y Orphanet 144 TPD-OJJJJN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OJJJJN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OJJMKK Kennedy disease 8B61.4 Orphanet 481 TPD-OJJMKK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OJJMKK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OJJMKK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OJQWSC Kennedy disease 8B61.4 Orphanet 481 TPD-OJQWSC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OJQWSC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OJQWSC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OJS24J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OJS24J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OJS24J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OJTEN3 Kennedy disease 8B61.4 Orphanet 481 TPD-OJTEN3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OJTEN3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OJTEN3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OJXRNV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OJXRNV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OJXRNV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OJZWSL Noonan syndrome LD2F.15 Orphanet 648 TPD-OJZWSL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OJZWSL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OJZWSL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OJZWSL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OJZWSL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OJZWSL Lynch syndrome 2B90.Y Orphanet 144 TPD-OJZWSL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OJZWSL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OK0VX0 Kennedy disease 8B61.4 Orphanet 481 TPD-OK0VX0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OK0VX0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OK0VX0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OK1J70 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OK1J70 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OK3HOY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OK6FFN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OK6FFN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OK6FFN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OK6FFN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OK6FFN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OK6FFN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OK6FFN Semantic dementia 6D83 Orphanet 100069 TPD-OK6FFN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OKC29Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OKC29Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OKC29Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OKC29Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OKH4PU Burkitt lymphoma XH4KA9 Orphanet 543 TPD-OKH4PU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-OKH6DL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OKI96Q Kennedy disease 8B61.4 Orphanet 481 TPD-OKI96Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OKI96Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OKI96Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OKJS02 Noonan syndrome LD2F.15 Orphanet 648 TPD-OKJS02 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OKJS02 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OKJS02 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OKJS02 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OKJS02 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OKJS02 Lynch syndrome 2B90.Y Orphanet 144 TPD-OKJS02 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OKJS02 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OKJTZM Kennedy disease 8B61.4 Orphanet 481 TPD-OKJTZM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OKJTZM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OKJTZM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OKKHPD Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-OKKHPD Wilson-Turner syndrome LD29 Orphanet 3459 TPD-OKMQC9 Kennedy disease 8B61.4 Orphanet 481 TPD-OKMQC9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OKMQC9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OKMQC9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OKR1GF Kennedy disease 8B61.4 Orphanet 481 TPD-OKR1GF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OKR1GF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OKR1GF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OKRNUL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-OKRNUL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-OKTTR7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OKTTR7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OKTTR7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OKXESZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OKYSDT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OKYSDT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OKYSDT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OKYSZ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OKZATW Kennedy disease 8B61.4 Orphanet 481 TPD-OKZATW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OKZATW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OKZATW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OKZHOL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OKZHOL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OKZHOL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OKZS4O Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-OKZS4O Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-OKZS4O Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-OL0NF0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OL0PJD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-OL0PJD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-OL6XAB Kennedy disease 8B61.4 Orphanet 481 TPD-OL6XAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OL6XAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OL6XAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OLA3WF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OLAE2H Kennedy disease 8B61.4 Orphanet 481 TPD-OLAE2H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OLAE2H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OLAE2H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OLAGO1 Kennedy disease 8B61.4 Orphanet 481 TPD-OLAGO1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OLAGO1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OLAGO1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OLEKM9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OLEKM9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OLEKM9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OLG5D0 Familial melanoma QC61.Y Orphanet 618 TPD-OLG5D0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OLNPHN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OLNPHN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OLNPHN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OLPGVZ Kennedy disease 8B61.4 Orphanet 481 TPD-OLPGVZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OLPGVZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OLPGVZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OLQJ64 Kennedy disease 8B61.4 Orphanet 481 TPD-OLQJ64 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OLQJ64 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OLQJ64 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OLRMNU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OLT12Y Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OLV7BJ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-OLV7BJ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-OLVKOX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OLVKOX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OLVKOX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OLVKOX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OLX7NV Familial melanoma QC61.Y Orphanet 618 TPD-OLX7NV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OLZSLM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OLZSLM Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OLZSLM Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OLZSLM Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OLZSLM Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OLZSLM Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OLZSLM Semantic dementia 6D83 Orphanet 100069 TPD-OLZSLM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OM4TWH Kennedy disease 8B61.4 Orphanet 481 TPD-OM4TWH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OM4TWH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OM4TWH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OM7M9J Noonan syndrome LD2F.15 Orphanet 648 TPD-OM7M9J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OM7M9J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OM7M9J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OM7M9J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OM7M9J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OM7M9J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OM7M9J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OM7M9J Craniopharyngioma 2F9A Orphanet 54595 TPD-OM7M9J Cushing disease 5A70.0 Orphanet 96253 TPD-OM9LYZ Noonan syndrome LD2F.15 Orphanet 648 TPD-OM9LYZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OM9LYZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OM9LYZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OM9LYZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OM9LYZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OM9LYZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OM9LYZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OM9LYZ Craniopharyngioma 2F9A Orphanet 54595 TPD-OM9LYZ Cushing disease 5A70.0 Orphanet 96253 TPD-OMDCWZ Noonan syndrome LD2F.15 Orphanet 648 TPD-OMDCWZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OMDCWZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OMDCWZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OMDCWZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OMDCWZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OMDCWZ Lynch syndrome 2B90.Y Orphanet 144 TPD-OMDCWZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OMDCWZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OME7X3 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-OME7X3 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-OME7X3 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-OME7X3 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-OME7X3 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-OME7X3 Polycythemia vera 2A20.4 Orphanet 729 TPD-OME7X3 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-OMEM41 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OMEM41 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OMEM41 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OMEM41 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OMKS0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-OMKS0Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OMKS0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OMKS0Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OMKS0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OMKS0Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OMKS0Z Lynch syndrome 2B90.Y Orphanet 144 TPD-OMKS0Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OMKS0Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OMME0H Noonan syndrome LD2F.15 Orphanet 648 TPD-OMME0H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OMME0H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OMME0H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OMME0H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OMME0H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OMME0H Lynch syndrome 2B90.Y Orphanet 144 TPD-OMME0H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OMME0H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OMMEGW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OMMEGW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OMMEGW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OMP7OB Kennedy disease 8B61.4 Orphanet 481 TPD-OMP7OB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OMP7OB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OMP7OB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OMP8M6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OMP8M6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OMQQD6 Kennedy disease 8B61.4 Orphanet 481 TPD-OMQQD6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OMQQD6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OMQQD6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OMVLB1 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-OMVLB1 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-OMVLB1 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-OMVLB1 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-OMVLB1 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-OMVLB1 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-OMVLB1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OMVLB1 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-OMVLB1 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-OMW1YP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OMW1YP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OMW1YP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OMW1YP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OMYO3Q Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OMYO3Q Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OMYO3Q Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OMYUDC Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-OMYUDC Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-OMZ9E3 Noonan syndrome LD2F.15 Orphanet 648 TPD-OMZ9E3 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ON5B9A Kennedy disease 8B61.4 Orphanet 481 TPD-ON5B9A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ON5B9A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ON5B9A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ON69QL Kennedy disease 8B61.4 Orphanet 481 TPD-ON69QL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ON69QL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ON69QL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ON6SHY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ON6SHY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ON6TGG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ON6TGG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ON6VOF Familial melanoma QC61.Y Orphanet 618 TPD-ON6VOF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ON825G Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ON825G Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ONBVRI Hirschsprung disease LB16.1 Orphanet 388 TPD-ONBVRI Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-ONBVRI Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-ONC807 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ONFG3E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ONFG3E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ONHU5V Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ONHU5V Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ONK8WG Kennedy disease 8B61.4 Orphanet 481 TPD-ONK8WG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ONK8WG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ONK8WG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ONPTVB Noonan syndrome LD2F.15 Orphanet 648 TPD-ONPTVB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ONPTVB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ONPTVB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ONPTVB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ONPTVB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ONPTVB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ONPTVB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ONPTVB Craniopharyngioma 2F9A Orphanet 54595 TPD-ONPTVB Cushing disease 5A70.0 Orphanet 96253 TPD-ONQ7IP Kennedy disease 8B61.4 Orphanet 481 TPD-ONQ7IP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ONQ7IP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ONQ7IP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ONQLFB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ONQLFB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ONR0OA Familial melanoma QC61.Y Orphanet 618 TPD-ONR0OA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OO09RL Familial melanoma QC61.Y Orphanet 618 TPD-OO09RL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OO0O54 Noonan syndrome LD2F.15 Orphanet 648 TPD-OO0O54 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OO0O54 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OO0O54 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OO0O54 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OO0O54 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OO0O54 Lynch syndrome 2B90.Y Orphanet 144 TPD-OO0O54 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OO0O54 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OO3NEE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OO3NEE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OO3ZXX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OO5TQU Kennedy disease 8B61.4 Orphanet 481 TPD-OO5TQU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OO5TQU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OO5TQU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OO6BAM Kennedy disease 8B61.4 Orphanet 481 TPD-OO6BAM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OO6BAM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OO6BAM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OO74BC Noonan syndrome LD2F.15 Orphanet 648 TPD-OO74BC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OO74BC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OO74BC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OO74BC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OO74BC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OO74BC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OO74BC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OO74BC Craniopharyngioma 2F9A Orphanet 54595 TPD-OO74BC Cushing disease 5A70.0 Orphanet 96253 TPD-OOCOQA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OODL1J Noonan syndrome LD2F.15 Orphanet 648 TPD-OODL1J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OODL1J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OODL1J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OODL1J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OODL1J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OODL1J Lynch syndrome 2B90.Y Orphanet 144 TPD-OODL1J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OODL1J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OOK3ID Noonan syndrome LD2F.15 Orphanet 648 TPD-OOK3ID Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OOK3ID Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OOK3ID Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OOK3ID Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OOK3ID Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OOK3ID Lynch syndrome 2B90.Y Orphanet 144 TPD-OOK3ID Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OOK3ID Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OOMIUU Noonan syndrome LD2F.15 Orphanet 648 TPD-OOMIUU Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-OOO22Y Kennedy disease 8B61.4 Orphanet 481 TPD-OOO22Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OOO22Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OOO22Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OOSUZ3 Kennedy disease 8B61.4 Orphanet 481 TPD-OOSUZ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OOSUZ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OOSUZ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OOZN0C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OOZN0C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OOZN0C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OOZOGO Noonan syndrome LD2F.15 Orphanet 648 TPD-OOZOGO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OOZOGO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OOZOGO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OOZOGO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OOZOGO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OOZOGO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OOZOGO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OOZOGO Craniopharyngioma 2F9A Orphanet 54595 TPD-OOZOGO Cushing disease 5A70.0 Orphanet 96253 TPD-OP19UJ Kennedy disease 8B61.4 Orphanet 481 TPD-OP19UJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OP19UJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OP19UJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OP1B37 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OP5UMA Familial melanoma QC61.Y Orphanet 618 TPD-OP5UMA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OP74FR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OP77NC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OP7IXH Familial melanoma QC61.Y Orphanet 618 TPD-OPCTPQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OPCTPQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OPCTPQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OPCTPQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OPGVL5 Kennedy disease 8B61.4 Orphanet 481 TPD-OPGVL5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OPGVL5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OPGVL5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OPIF2K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OPIF2K Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OPKLCV Familial melanoma QC61.Y Orphanet 618 TPD-OPKLCV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OPO64J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OPO64J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OPO64J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OPOYCK Kennedy disease 8B61.4 Orphanet 481 TPD-OPOYCK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OPOYCK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OPOYCK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OPPOM5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OPYDE5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OPYDE5 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OPYDE5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OQ382N Kennedy disease 8B61.4 Orphanet 481 TPD-OQ382N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OQ382N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OQ382N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OQ3A08 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OQ3A08 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OQ3A08 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OQ3A08 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OQ6I6N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OQ6I6N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OQ6I6N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OQ6I6N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OQ86YJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OQ9NCU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OQ9NCU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OQAIQK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OQG9UV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OQL8WB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-OQL8WB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-OQL8WB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-OQL8WB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-OQL8WB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-OQL8WB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-OQL8WB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OQL8WB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-OQL8WB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-OQLKIG Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-OQP1S6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OQP1S6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OQTO8F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OQVCFO Kennedy disease 8B61.4 Orphanet 481 TPD-OQVCFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OQVCFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OQVCFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OQYPTH Noonan syndrome LD2F.15 Orphanet 648 TPD-OQYPTH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OQYPTH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OQYPTH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OQYPTH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OQYPTH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OQYPTH Lynch syndrome 2B90.Y Orphanet 144 TPD-OQYPTH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OQYPTH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OQZA8D Burkitt lymphoma XH4KA9 Orphanet 543 TPD-OQZA8D Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-OQZA8D Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-OQZPE7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OR5CCZ Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-OR61PE Familial melanoma QC61.Y Orphanet 618 TPD-OR61PE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OR7TKC Familial melanoma QC61.Y Orphanet 618 TPD-OR979Q Kennedy disease 8B61.4 Orphanet 481 TPD-OR979Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OR979Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OR979Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OR9ZXG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OR9ZXG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OR9ZXG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ORH35Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ORHN5M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ORHN5M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ORHN5M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ORLE1X Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ORLVCB X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-ORNPZV Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-ORNPZV Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-ORNPZV Primary myelofibrosis 2A20.2 Orphanet 824 TPD-ORNPZV Polycythemia vera 2A20.4 Orphanet 729 TPD-ORNPZV Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-ORNPZV Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-ORNPZV T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-ORU5VG Noonan syndrome LD2F.15 Orphanet 648 TPD-ORU5VG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ORU5VG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ORU5VG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ORU5VG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ORU5VG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ORU5VG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ORU5VG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ORU5VG Craniopharyngioma 2F9A Orphanet 54595 TPD-ORU5VG Cushing disease 5A70.0 Orphanet 96253 TPD-ORVYFN Kennedy disease 8B61.4 Orphanet 481 TPD-ORVYFN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ORVYFN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ORVYFN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ORYW3V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ORYW3V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ORYW3V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OS0HLB Kennedy disease 8B61.4 Orphanet 481 TPD-OS0HLB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OS0HLB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OS0HLB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OS2K7L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OS2K7L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OS2K7L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OS3T1J Noonan syndrome LD2F.15 Orphanet 648 TPD-OS3T1J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OS3T1J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OS3T1J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OS3T1J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OS3T1J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OS3T1J Lynch syndrome 2B90.Y Orphanet 144 TPD-OS3T1J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OS3T1J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OS4CSI Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-OS4CSI Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-OS4CSI Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-OS4CSI Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-OS4CSI Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-OS4CSI Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-OS4CSI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OS4CSI Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-OS4CSI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-OS566G Noonan syndrome LD2F.15 Orphanet 648 TPD-OS566G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OS566G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OS566G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OS566G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OS566G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OS566G Lynch syndrome 2B90.Y Orphanet 144 TPD-OS566G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OS566G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OS61A3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OS61A3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OS61A3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OS61A3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OS61A3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OS61A3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OS61A3 Semantic dementia 6D83 Orphanet 100069 TPD-OS61A3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OS66S1 Noonan syndrome LD2F.15 Orphanet 648 TPD-OS66S1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OS66S1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OS66S1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OS66S1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OS66S1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OS66S1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OS66S1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OS66S1 Craniopharyngioma 2F9A Orphanet 54595 TPD-OS66S1 Cushing disease 5A70.0 Orphanet 96253 TPD-OS6BZA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OS7JHH Kennedy disease 8B61.4 Orphanet 481 TPD-OS7JHH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OS7JHH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OS7JHH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OS9L2U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OS9L2U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OS9L2U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OS9OCU Weaver syndrome LD2C Orphanet 3447 TPD-OSCM4C Noonan syndrome LD2F.15 Orphanet 648 TPD-OSCM4C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OSCM4C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OSCM4C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OSCM4C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OSCM4C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OSCM4C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OSCM4C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OSCM4C Craniopharyngioma 2F9A Orphanet 54595 TPD-OSCM4C Cushing disease 5A70.0 Orphanet 96253 TPD-OSEUQR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OSEUQR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OSJFKH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OSJFKH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OSJFKH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OSJFKH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OSL9PX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OSL9PX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OSMM8E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OSMM8E Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OSMX1L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OSMX1L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OSMX1L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OSOQGN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OSR0HP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OSR0HP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OSYUPD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-OSYUPD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-OSZXRS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OT3D8O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OT3D8O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OT4VE6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OT4VE6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OT54SQ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-OT54SQ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-OT7XMM Familial prostate cancer 2C82.Y Orphanet 1331 TPD-OT7XMM Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-OT7XMM Seckel syndrome LD24.D Orphanet 808 TPD-OT7XMM Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-OT9P0L Noonan syndrome LD2F.15 Orphanet 648 TPD-OT9P0L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OT9P0L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OT9P0L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OT9P0L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OT9P0L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OT9P0L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OT9P0L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OT9P0L Craniopharyngioma 2F9A Orphanet 54595 TPD-OT9P0L Cushing disease 5A70.0 Orphanet 96253 TPD-OTGIH0 Noonan syndrome LD2F.15 Orphanet 648 TPD-OTGIH0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OTGIH0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OTGIH0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OTGIH0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OTGIH0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OTGIH0 Lynch syndrome 2B90.Y Orphanet 144 TPD-OTGIH0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OTGIH0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OTGOIU Noonan syndrome LD2F.15 Orphanet 648 TPD-OTGOIU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OTGOIU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OTGOIU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OTGOIU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OTGOIU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OTGOIU Lynch syndrome 2B90.Y Orphanet 144 TPD-OTGOIU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OTGOIU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OTKQQJ Kennedy disease 8B61.4 Orphanet 481 TPD-OTKQQJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OTKQQJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OTKQQJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OTL7W9 Noonan syndrome LD2F.15 Orphanet 648 TPD-OTL7W9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OTL7W9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OTL7W9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OTL7W9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OTL7W9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OTL7W9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OTL7W9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OTL7W9 Craniopharyngioma 2F9A Orphanet 54595 TPD-OTL7W9 Cushing disease 5A70.0 Orphanet 96253 TPD-OTOY2N Kennedy disease 8B61.4 Orphanet 481 TPD-OTOY2N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OTOY2N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OTOY2N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OTR5O1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OTR932 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OTR932 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OTUXYE Kennedy disease 8B61.4 Orphanet 481 TPD-OTUXYE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OTUXYE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OTUXYE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OTW0WJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OTW0WJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OTW0WJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OTXC98 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OTXC98 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OTXC98 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OTXC98 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OTZD3X Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OTZLID Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OTZLID Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OU1BKC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OU1BKC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OU33OU Kennedy disease 8B61.4 Orphanet 481 TPD-OU33OU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OU33OU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OU33OU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OU35FY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OU35FY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OU35FY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OU8G96 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OU8G96 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OU8G96 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OU9NBT Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-OUAA70 Noonan syndrome LD2F.15 Orphanet 648 TPD-OUAA70 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OUAA70 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OUAA70 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OUAA70 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OUAA70 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OUAA70 Lynch syndrome 2B90.Y Orphanet 144 TPD-OUAA70 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OUAA70 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OUAOE5 Kennedy disease 8B61.4 Orphanet 481 TPD-OUAOE5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OUAOE5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OUAOE5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OUBSSX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OUBSSX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OUD2F7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OUD2F7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OUDBRC Kennedy disease 8B61.4 Orphanet 481 TPD-OUDBRC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OUDBRC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OUDBRC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OUIAFO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OUIAFO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OUL2M2 Noonan syndrome LD2F.15 Orphanet 648 TPD-OUL2M2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OUL2M2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OUL2M2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OUL2M2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OUL2M2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OUL2M2 Lynch syndrome 2B90.Y Orphanet 144 TPD-OUL2M2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OUL2M2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OUN0Z6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OUN0Z6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OUN0Z6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OUPQ9B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OUPQ9B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OUPWQH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OUPWQH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OUPWQH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OUPWQH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OV1LN0 Noonan syndrome LD2F.15 Orphanet 648 TPD-OV1LN0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OV1LN0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OV1LN0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OV1LN0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OV1LN0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OV1LN0 Lynch syndrome 2B90.Y Orphanet 144 TPD-OV1LN0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OV1LN0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OV1X0T Noonan syndrome LD2F.15 Orphanet 648 TPD-OV1X0T Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OV1X0T Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OV1X0T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OV1X0T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OV1X0T Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OV1X0T Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OV1X0T Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OV1X0T Craniopharyngioma 2F9A Orphanet 54595 TPD-OV1X0T Cushing disease 5A70.0 Orphanet 96253 TPD-OV1X0T Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-OV3W5S Noonan syndrome LD2F.15 Orphanet 648 TPD-OV3W5S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OV3W5S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OV3W5S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OV3W5S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OV3W5S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OV3W5S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OV3W5S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OV3W5S Craniopharyngioma 2F9A Orphanet 54595 TPD-OV3W5S Cushing disease 5A70.0 Orphanet 96253 TPD-OV572U Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OV7BUJ Noonan syndrome LD2F.15 Orphanet 648 TPD-OV7BUJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-OVAARG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OVAARG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OVAARG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OVAARG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OVCQMY Kennedy disease 8B61.4 Orphanet 481 TPD-OVCQMY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OVCQMY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OVCQMY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OVD6IG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OVE87J Noonan syndrome LD2F.15 Orphanet 648 TPD-OVE87J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OVE87J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OVE87J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OVE87J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OVE87J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OVE87J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OVE87J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OVE87J Craniopharyngioma 2F9A Orphanet 54595 TPD-OVE87J Cushing disease 5A70.0 Orphanet 96253 TPD-OVFSMD Noonan syndrome LD2F.15 Orphanet 648 TPD-OVFSMD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OVFSMD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OVFSMD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OVFSMD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OVFSMD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OVFSMD Lynch syndrome 2B90.Y Orphanet 144 TPD-OVFSMD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OVFSMD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OVIUXF Kennedy disease 8B61.4 Orphanet 481 TPD-OVIUXF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OVIUXF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OVIUXF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OVL24J Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OVL24J Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OVL24J Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OVL24J Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OVL24J Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OVL24J Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OVL24J Semantic dementia 6D83 Orphanet 100069 TPD-OVL24J Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OVMBXF Noonan syndrome LD2F.15 Orphanet 648 TPD-OVMBXF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OVMBXF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OVMBXF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OVMBXF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OVMBXF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OVMBXF Lynch syndrome 2B90.Y Orphanet 144 TPD-OVMBXF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OVMBXF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OVMZXM Kennedy disease 8B61.4 Orphanet 481 TPD-OVMZXM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OVMZXM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OVMZXM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OVNYNJ Noonan syndrome LD2F.15 Orphanet 648 TPD-OVNYNJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OVNYNJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OVNYNJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OVNYNJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OVNYNJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OVNYNJ Lynch syndrome 2B90.Y Orphanet 144 TPD-OVNYNJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OVNYNJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OVOQM5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-OVOQM5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-OVOQM5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-OVOQM5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-OVOQM5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-OVOQM5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-OVOQM5 Semantic dementia 6D83 Orphanet 100069 TPD-OVOQM5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-OVPA3K Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OVQVQJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OVQVQJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OVROQ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OVROQ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OVROQ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OVROQ1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OVTIBW Kennedy disease 8B61.4 Orphanet 481 TPD-OVTIBW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OVTIBW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OVTIBW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OVV52X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OVV52X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OVYI1J Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-OW3NIU Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-OW4TDM Kennedy disease 8B61.4 Orphanet 481 TPD-OW4TDM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OW4TDM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OW4TDM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OW7KNE Kennedy disease 8B61.4 Orphanet 481 TPD-OW7KNE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OW7KNE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OW7KNE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OWJLJD Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OWO0U3 Kennedy disease 8B61.4 Orphanet 481 TPD-OWO0U3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OWO0U3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OWO0U3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OWOLRJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-OWOLRJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-OWQHXI Noonan syndrome LD2F.15 Orphanet 648 TPD-OWQHXI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OWQHXI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OWQHXI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OWQHXI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OWQHXI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OWQHXI Lynch syndrome 2B90.Y Orphanet 144 TPD-OWQHXI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OWQHXI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OWQNW0 Noonan syndrome LD2F.15 Orphanet 648 TPD-OWQNW0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OWQNW0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OWQNW0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OWQNW0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OWQNW0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OWQNW0 Lynch syndrome 2B90.Y Orphanet 144 TPD-OWQNW0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OWQNW0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OWSL42 Noonan syndrome LD2F.15 Orphanet 648 TPD-OWSL42 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OWSL42 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OWSL42 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OWSL42 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OWSL42 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OWSL42 Lynch syndrome 2B90.Y Orphanet 144 TPD-OWSL42 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OWSL42 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OWTOAR Kennedy disease 8B61.4 Orphanet 481 TPD-OWTOAR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OWTOAR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OWTOAR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OWVDD8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OWVGGV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OWVGGV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OWWJWQ Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-OWXV7S Kennedy disease 8B61.4 Orphanet 481 TPD-OWXV7S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OWXV7S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OWXV7S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OX10J3 Kennedy disease 8B61.4 Orphanet 481 TPD-OX10J3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OX10J3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OX10J3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OX24RH Kennedy disease 8B61.4 Orphanet 481 TPD-OX24RH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OX24RH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OX24RH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OX2V3Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OXD6CG Kennedy disease 8B61.4 Orphanet 481 TPD-OXD6CG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OXD6CG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OXD6CG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OXG2HW Kennedy disease 8B61.4 Orphanet 481 TPD-OXG2HW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OXG2HW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OXG2HW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OXLWQ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OXLWQ9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-OXLWQ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OXNHBT Kennedy disease 8B61.4 Orphanet 481 TPD-OXNHBT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OXNHBT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OXNHBT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OXO4Y1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OXOAVO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OXOAVO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OXOAVO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OXP7F0 Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-OXT1UO Noonan syndrome LD2F.15 Orphanet 648 TPD-OXT1UO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OXT1UO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OXT1UO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OXT1UO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OXT1UO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OXT1UO Lynch syndrome 2B90.Y Orphanet 144 TPD-OXT1UO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OXT1UO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OXT2AB Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OXT2SM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OXT2SM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OXT2SM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OXU8VU Noonan syndrome LD2F.15 Orphanet 648 TPD-OXU8VU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-OXU8VU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-OXU8VU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OXU8VU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OXU8VU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-OXU8VU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-OXU8VU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-OXU8VU Craniopharyngioma 2F9A Orphanet 54595 TPD-OXU8VU Cushing disease 5A70.0 Orphanet 96253 TPD-OXXT4X CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OY2ZL9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OY48KW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-OY5X99 Kennedy disease 8B61.4 Orphanet 481 TPD-OY5X99 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OY5X99 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OY5X99 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OY7R5J Noonan syndrome LD2F.15 Orphanet 648 TPD-OY7R5J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OY7R5J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OY7R5J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OY7R5J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OY7R5J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OY7R5J Lynch syndrome 2B90.Y Orphanet 144 TPD-OY7R5J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OY7R5J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OY8XQI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OY8XQI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OY8XQI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OYDDWE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-OYEMEO Kennedy disease 8B61.4 Orphanet 481 TPD-OYEMEO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OYEMEO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OYEMEO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OYFPPT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-OYFPPT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-OYIDEO Noonan syndrome LD2F.15 Orphanet 648 TPD-OYIDEO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OYIDEO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OYIDEO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OYIDEO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OYIDEO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OYIDEO Lynch syndrome 2B90.Y Orphanet 144 TPD-OYIDEO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OYIDEO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OYJ18D Kennedy disease 8B61.4 Orphanet 481 TPD-OYJ18D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OYJ18D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OYJ18D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OYJBKF Familial melanoma QC61.Y Orphanet 618 TPD-OYJBKF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OYJV07 Noonan syndrome LD2F.15 Orphanet 648 TPD-OYJV07 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OYJV07 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OYJV07 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OYJV07 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OYJV07 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OYJV07 Lynch syndrome 2B90.Y Orphanet 144 TPD-OYJV07 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OYJV07 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OYKGFL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OYNAOO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OYWEH4 Kennedy disease 8B61.4 Orphanet 481 TPD-OYWEH4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OYWEH4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OYWEH4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OYWGPM Kennedy disease 8B61.4 Orphanet 481 TPD-OYWGPM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OYWGPM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OYWGPM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OYWID7 Kennedy disease 8B61.4 Orphanet 481 TPD-OYWID7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OYWID7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OYWID7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OZ2C4N Familial melanoma QC61.Y Orphanet 618 TPD-OZ2C4N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-OZ38KX Kennedy disease 8B61.4 Orphanet 481 TPD-OZ38KX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OZ38KX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OZ38KX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OZ629H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OZ6WWI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-OZ6WWI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-OZ6WWI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-OZ6WWI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-OZ7BL3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OZ7BL3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-OZ9VL1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-OZAPYP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-OZGCO1 Noonan syndrome LD2F.15 Orphanet 648 TPD-OZGCO1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OZGCO1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OZGCO1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OZGCO1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OZGCO1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OZGCO1 Lynch syndrome 2B90.Y Orphanet 144 TPD-OZGCO1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OZGCO1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OZHP5O Kennedy disease 8B61.4 Orphanet 481 TPD-OZHP5O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-OZHP5O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-OZHP5O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-OZJ0XA Noonan syndrome LD2F.15 Orphanet 648 TPD-OZJ0XA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OZJ0XA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OZJ0XA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OZJ0XA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OZJ0XA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OZJ0XA Lynch syndrome 2B90.Y Orphanet 144 TPD-OZJ0XA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OZJ0XA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OZMHE9 Noonan syndrome LD2F.15 Orphanet 648 TPD-OZMHE9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OZMHE9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OZMHE9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OZMHE9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OZMHE9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OZMHE9 Lynch syndrome 2B90.Y Orphanet 144 TPD-OZMHE9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OZMHE9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OZNQSY Noonan syndrome LD2F.15 Orphanet 648 TPD-OZNQSY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-OZNQSY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-OZNQSY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-OZNQSY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-OZNQSY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-OZNQSY Lynch syndrome 2B90.Y Orphanet 144 TPD-OZNQSY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-OZNQSY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-OZOBLG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-OZTGOH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OZTGOH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OZTGOH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-OZX0XI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-OZX0XI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-OZX0XI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P05F9H Noonan syndrome LD2F.15 Orphanet 648 TPD-P05F9H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P05F9H Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P05F9H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P05F9H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P05F9H Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P05F9H Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P05F9H Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P05F9H Craniopharyngioma 2F9A Orphanet 54595 TPD-P05F9H Cushing disease 5A70.0 Orphanet 96253 TPD-P065AH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-P065AH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-P066CE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P066CE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-P066CE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P08IKW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P08IKW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P08IKW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P08IKW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P0CZTB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P0EOS2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P0EOS2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P0EOS2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P0EOS2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P0ESP5 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-P0IK1B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P0IK1B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P0IK1B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P0IK1B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P0JE9H Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-P0JE9H Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-P0LQT5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-P0NY3Y Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-P0NY3Y Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-P0NY3Y Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-P0NY3Y Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-P0NY3Y Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-P0NY3Y Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-P0NY3Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P0NY3Y Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-P0NY3Y Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-P0SUC7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P0SUC7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P0ZVX3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P0ZVX3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P10F9W Familial melanoma QC61.Y Orphanet 618 TPD-P10F9W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P113JA Familial melanoma QC61.Y Orphanet 618 TPD-P113JA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P11F8U Kennedy disease 8B61.4 Orphanet 481 TPD-P11F8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P11F8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P11F8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P185FR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P185FR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P185FR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P1BYVK Noonan syndrome LD2F.15 Orphanet 648 TPD-P1BYVK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P1BYVK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P1BYVK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P1BYVK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P1BYVK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P1BYVK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P1BYVK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P1BYVK Craniopharyngioma 2F9A Orphanet 54595 TPD-P1BYVK Cushing disease 5A70.0 Orphanet 96253 TPD-P1HY8N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P1HY8N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P1HY8N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P1INIC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P1INIC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P1PY45 Kennedy disease 8B61.4 Orphanet 481 TPD-P1PY45 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P1PY45 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P1PY45 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P1T1S0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P1T1S0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P1TIIW Kennedy disease 8B61.4 Orphanet 481 TPD-P1TIIW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P1TIIW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P1TIIW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P1YJFI Noonan syndrome LD2F.15 Orphanet 648 TPD-P1YJFI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P1YJFI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P1YJFI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P1YJFI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P1YJFI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P1YJFI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P1YJFI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P1YJFI Craniopharyngioma 2F9A Orphanet 54595 TPD-P1YJFI Cushing disease 5A70.0 Orphanet 96253 TPD-P1YJFI Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-P21ZWF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P21ZWF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P237EV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P237EV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P2D6OA Kennedy disease 8B61.4 Orphanet 481 TPD-P2D6OA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2D6OA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2D6OA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2ED1I Kennedy disease 8B61.4 Orphanet 481 TPD-P2ED1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2ED1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2ED1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2EQBZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-P2JFHP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P2JFHP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P2JFHP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P2JO0N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P2JO0N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P2JO0N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P2JO0N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P2KCUV Kennedy disease 8B61.4 Orphanet 481 TPD-P2KCUV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2KCUV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2KCUV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2LK80 Kennedy disease 8B61.4 Orphanet 481 TPD-P2LK80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2LK80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2LK80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2RKYW Kennedy disease 8B61.4 Orphanet 481 TPD-P2RKYW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2RKYW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2RKYW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2XEMC Kennedy disease 8B61.4 Orphanet 481 TPD-P2XEMC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P2XEMC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P2XEMC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P2YZQJ Familial melanoma QC61.Y Orphanet 618 TPD-P2YZQJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P310LW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P310LW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P31ZXM Kennedy disease 8B61.4 Orphanet 481 TPD-P31ZXM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P31ZXM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P31ZXM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P32AHT Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-P32ZJE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P32ZJE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P33RW5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P352KU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P352KU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P352KU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P352KU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P3830C Kennedy disease 8B61.4 Orphanet 481 TPD-P3830C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P3830C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P3830C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P398VP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P398VP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P39KUZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P39KUZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P39KUZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P3FBP5 Hirschsprung disease LB16.1 Orphanet 388 TPD-P3FBP5 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-P3HOAK Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-P3MG20 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P3MG20 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P3MRWZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P3NEY2 Kennedy disease 8B61.4 Orphanet 481 TPD-P3NEY2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P3NEY2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P3NEY2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P3NRYY Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-P3NRYY Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-P3NRYY Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-P3NRYY Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-P3NRYY Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-P3NRYY Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-P3NRYY Semantic dementia 6D83 Orphanet 100069 TPD-P3NRYY Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-P3OJAD Noonan syndrome LD2F.15 Orphanet 648 TPD-P3OJAD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P3OJAD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P3OJAD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P3OJAD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P3OJAD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P3OJAD Lynch syndrome 2B90.Y Orphanet 144 TPD-P3OJAD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P3OJAD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P3OLZY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P3OLZY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P3PJ2K Kennedy disease 8B61.4 Orphanet 481 TPD-P3PJ2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P3PJ2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P3PJ2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P3RFC9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P3RFC9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P3UK6T Burkitt lymphoma XH4KA9 Orphanet 543 TPD-P3UK6T Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-P3UNR5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-P3UVSQ Kennedy disease 8B61.4 Orphanet 481 TPD-P3UVSQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P3UVSQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P3UVSQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P3W13M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P3XP0B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P3YM35 Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-P3YM35 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-P4172X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P4172X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P429Z8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P429Z8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P42HO6 Familial melanoma QC61.Y Orphanet 618 TPD-P42HO6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P460S3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P4B9EN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-P4B9EN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-P4B9EN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-P4B9EN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-P4B9EN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-P4B9EN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-P4B9EN Semantic dementia 6D83 Orphanet 100069 TPD-P4B9EN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-P4BT36 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-P4EAR3 Noonan syndrome LD2F.15 Orphanet 648 TPD-P4EAR3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P4EAR3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P4EAR3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P4EAR3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P4EAR3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P4EAR3 Lynch syndrome 2B90.Y Orphanet 144 TPD-P4EAR3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P4EAR3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P4HPHU Familial melanoma QC61.Y Orphanet 618 TPD-P4HPHU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P4I55T Kennedy disease 8B61.4 Orphanet 481 TPD-P4I55T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P4I55T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P4I55T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P4I80L Noonan syndrome LD2F.15 Orphanet 648 TPD-P4I80L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P4I80L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P4I80L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P4I80L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P4I80L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P4I80L Lynch syndrome 2B90.Y Orphanet 144 TPD-P4I80L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P4I80L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P4IF91 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-P4IF91 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-P4IF91 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-P4IF91 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-P4IF91 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-P4IF91 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-P4IF91 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P4IF91 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-P4IF91 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-P4KH12 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P4POM3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P4POM3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P4RIXX Kennedy disease 8B61.4 Orphanet 481 TPD-P4RIXX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P4RIXX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P4RIXX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P4RR5B Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-P4RR5B Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-P4W63E Kennedy disease 8B61.4 Orphanet 481 TPD-P4W63E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P4W63E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P4W63E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P4W981 Noonan syndrome LD2F.15 Orphanet 648 TPD-P4W981 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P4W981 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P4W981 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P4W981 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P4W981 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P4W981 Lynch syndrome 2B90.Y Orphanet 144 TPD-P4W981 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P4W981 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P4XU04 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P4XU04 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P4YHC5 Kennedy disease 8B61.4 Orphanet 481 TPD-P4YHC5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P4YHC5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P4YHC5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P50F1B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P50F1B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P56T45 Kennedy disease 8B61.4 Orphanet 481 TPD-P56T45 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P56T45 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P56T45 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P57IIM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P57IIM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P57IIM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P59TVH Familial melanoma QC61.Y Orphanet 618 TPD-P59TVH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P5FH0I Noonan syndrome LD2F.15 Orphanet 648 TPD-P5FH0I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P5FH0I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P5FH0I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P5FH0I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P5FH0I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P5FH0I Lynch syndrome 2B90.Y Orphanet 144 TPD-P5FH0I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P5FH0I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P5H06P Noonan syndrome LD2F.15 Orphanet 648 TPD-P5H06P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P5H06P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P5H06P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P5H06P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P5H06P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P5H06P Lynch syndrome 2B90.Y Orphanet 144 TPD-P5H06P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P5H06P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P5L1WN Kennedy disease 8B61.4 Orphanet 481 TPD-P5L1WN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P5L1WN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P5L1WN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P5MIJE Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-P5MIJE Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-P5MJV4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P5MJV4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P5OJ6K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P5OJ6K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P5T21H Noonan syndrome LD2F.15 Orphanet 648 TPD-P5T21H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P5T21H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P5T21H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P5T21H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P5T21H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P5T21H Lynch syndrome 2B90.Y Orphanet 144 TPD-P5T21H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P5T21H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P5VBO4 Kennedy disease 8B61.4 Orphanet 481 TPD-P5VBO4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P5VBO4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P5VBO4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P5VWZK Kennedy disease 8B61.4 Orphanet 481 TPD-P5VWZK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P5VWZK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P5VWZK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P5WAL7 Noonan syndrome LD2F.15 Orphanet 648 TPD-P5WAL7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P5WAL7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P5WAL7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P5WAL7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P5WAL7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P5WAL7 Lynch syndrome 2B90.Y Orphanet 144 TPD-P5WAL7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P5WAL7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P5XQPV Noonan syndrome LD2F.15 Orphanet 648 TPD-P5XQPV Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-P5YII5 Kennedy disease 8B61.4 Orphanet 481 TPD-P5YII5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P5YII5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P5YII5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P60614 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P60KCI Noonan syndrome LD2F.15 Orphanet 648 TPD-P60KCI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P60KCI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P60KCI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P60KCI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P60KCI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P60KCI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P60KCI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P60KCI Craniopharyngioma 2F9A Orphanet 54595 TPD-P60KCI Cushing disease 5A70.0 Orphanet 96253 TPD-P60Q7W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P60Q7W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P60Q7W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P60Q7W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P63BD8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P63BD8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P657YJ Noonan syndrome LD2F.15 Orphanet 648 TPD-P657YJ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-P67IAI Kennedy disease 8B61.4 Orphanet 481 TPD-P67IAI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P67IAI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P67IAI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P68ZDC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P68ZDC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P68ZDC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P68ZDC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P69L96 Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-P69L96 Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-P69L96 Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-P69L96 Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-P69L96 Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-P6A24D Noonan syndrome LD2F.15 Orphanet 648 TPD-P6A24D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P6A24D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P6A24D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P6A24D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P6A24D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P6A24D Lynch syndrome 2B90.Y Orphanet 144 TPD-P6A24D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P6A24D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P6BVC0 Weaver syndrome LD2C Orphanet 3447 TPD-P6E0YD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P6E0YD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P6E0YD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P6E0YD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P6E9V3 Kennedy disease 8B61.4 Orphanet 481 TPD-P6E9V3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P6E9V3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P6E9V3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P6NJKB Kennedy disease 8B61.4 Orphanet 481 TPD-P6NJKB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P6NJKB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P6NJKB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P6OL2T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P6RC2B Noonan syndrome LD2F.15 Orphanet 648 TPD-P6RC2B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P6RC2B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P6RC2B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P6RC2B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P6RC2B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P6RC2B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P6RC2B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P6RC2B Craniopharyngioma 2F9A Orphanet 54595 TPD-P6RC2B Cushing disease 5A70.0 Orphanet 96253 TPD-P6RDQP Kennedy disease 8B61.4 Orphanet 481 TPD-P6RDQP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P6RDQP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P6RDQP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P6XBS9 Noonan syndrome LD2F.15 Orphanet 648 TPD-P6XBS9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P6XBS9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P6XBS9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P6XBS9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P6XBS9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P6XBS9 Lynch syndrome 2B90.Y Orphanet 144 TPD-P6XBS9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P6XBS9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P6YOLK Kennedy disease 8B61.4 Orphanet 481 TPD-P6YOLK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P6YOLK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P6YOLK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P71ITX Familial melanoma QC61.Y Orphanet 618 TPD-P71ITX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P74NPC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P76MFC Weaver syndrome LD2C Orphanet 3447 TPD-P778Z3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P7D6MH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P7D6MH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P7D6MH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P7F3CG Familial melanoma QC61.Y Orphanet 618 TPD-P7F5MT Noonan syndrome LD2F.15 Orphanet 648 TPD-P7F5MT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P7F5MT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P7F5MT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P7F5MT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P7F5MT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P7F5MT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P7F5MT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P7F5MT Craniopharyngioma 2F9A Orphanet 54595 TPD-P7F5MT Cushing disease 5A70.0 Orphanet 96253 TPD-P7J70C Kennedy disease 8B61.4 Orphanet 481 TPD-P7J70C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P7J70C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P7J70C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P7PMYZ Kennedy disease 8B61.4 Orphanet 481 TPD-P7PMYZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P7PMYZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P7PMYZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P7QQDB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-P7QQDB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-P7SJSH Kennedy disease 8B61.4 Orphanet 481 TPD-P7SJSH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P7SJSH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P7SJSH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P7U7ID Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P7U7ID Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P7U7ID Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P7UO5O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P7UO5O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P7V4J1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P7VPS3 Noonan syndrome LD2F.15 Orphanet 648 TPD-P7VPS3 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-P7Z1EM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P7Z1EM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P84RAB Kennedy disease 8B61.4 Orphanet 481 TPD-P84RAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P84RAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P84RAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P85TYV Familial melanoma QC61.Y Orphanet 618 TPD-P85TYV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P86NKH Familial melanoma QC61.Y Orphanet 618 TPD-P86NKH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-P8CZRQ Kennedy disease 8B61.4 Orphanet 481 TPD-P8CZRQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P8CZRQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P8CZRQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P8HP7N Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-P8HP7N Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-P8IH1S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-P8IQPG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-P8IRJ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P8IRJ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P8IRJ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P8IRJ1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P8JCQ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-P8JCQ3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P8JCQ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P8JCQ3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P8JCQ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P8JCQ3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P8JCQ3 Lynch syndrome 2B90.Y Orphanet 144 TPD-P8JCQ3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P8JCQ3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P8LTKS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P8NIZQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-P8PYDQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-P8QFTJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P8QFTJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P8QFTJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P8QX6H Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-P8RVLM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-P8RVLM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-P8RVLM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-P8RVLM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-P8UEOR Noonan syndrome LD2F.15 Orphanet 648 TPD-P8UEOR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P8UEOR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P8UEOR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P8UEOR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P8UEOR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P8UEOR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P8UEOR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P8UEOR Craniopharyngioma 2F9A Orphanet 54595 TPD-P8UEOR Cushing disease 5A70.0 Orphanet 96253 TPD-P8VG1M Kennedy disease 8B61.4 Orphanet 481 TPD-P8VG1M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P8VG1M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P8VG1M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P93B6S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P93B6S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-P94ZRY Kennedy disease 8B61.4 Orphanet 481 TPD-P94ZRY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P94ZRY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P94ZRY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P96KFI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P96KFI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P96KFI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P99MHO Noonan syndrome LD2F.15 Orphanet 648 TPD-P99MHO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P99MHO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P99MHO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P99MHO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P99MHO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P99MHO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P99MHO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P99MHO Craniopharyngioma 2F9A Orphanet 54595 TPD-P99MHO Cushing disease 5A70.0 Orphanet 96253 TPD-P9BOF9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-P9BOF9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-P9BOF9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-P9HFLQ Kennedy disease 8B61.4 Orphanet 481 TPD-P9HFLQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P9HFLQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P9HFLQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P9I5JP Noonan syndrome LD2F.15 Orphanet 648 TPD-P9I5JP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-P9I5JP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-P9I5JP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P9I5JP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P9I5JP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-P9I5JP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-P9I5JP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-P9I5JP Craniopharyngioma 2F9A Orphanet 54595 TPD-P9I5JP Cushing disease 5A70.0 Orphanet 96253 TPD-P9LADU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-P9LADU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-P9LADU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-P9LADU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-P9LADU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-P9LADU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-P9LADU Semantic dementia 6D83 Orphanet 100069 TPD-P9LADU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-P9MF7L Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-P9MF7L Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-P9MF7L Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-P9MF7L Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-P9MF7L Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-P9MF7L Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-P9MF7L Semantic dementia 6D83 Orphanet 100069 TPD-P9MF7L Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-P9MLKN Kennedy disease 8B61.4 Orphanet 481 TPD-P9MLKN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P9MLKN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P9MLKN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P9N44N Kennedy disease 8B61.4 Orphanet 481 TPD-P9N44N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P9N44N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P9N44N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P9OZYE Noonan syndrome LD2F.15 Orphanet 648 TPD-P9OZYE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P9OZYE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P9OZYE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P9OZYE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P9OZYE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P9OZYE Lynch syndrome 2B90.Y Orphanet 144 TPD-P9OZYE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P9OZYE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P9QY7L Noonan syndrome LD2F.15 Orphanet 648 TPD-P9QY7L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P9QY7L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P9QY7L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P9QY7L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P9QY7L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P9QY7L Lynch syndrome 2B90.Y Orphanet 144 TPD-P9QY7L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P9QY7L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P9RVWN Kennedy disease 8B61.4 Orphanet 481 TPD-P9RVWN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P9RVWN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P9RVWN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P9TYXP Kennedy disease 8B61.4 Orphanet 481 TPD-P9TYXP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-P9TYXP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-P9TYXP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-P9US0D Noonan syndrome LD2F.15 Orphanet 648 TPD-P9US0D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-P9US0D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-P9US0D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-P9US0D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-P9US0D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-P9US0D Lynch syndrome 2B90.Y Orphanet 144 TPD-P9US0D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-P9US0D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-P9VPCB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P9VPCB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-P9VVR9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-P9YVTF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-P9YVTF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-P9YVTF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-P9ZA6N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-P9ZCJR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-P9ZCJR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PA2JAL Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-PA6RWT Noonan syndrome LD2F.15 Orphanet 648 TPD-PA6RWT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PA6RWT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PA6RWT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PA6RWT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PA6RWT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PA6RWT Lynch syndrome 2B90.Y Orphanet 144 TPD-PA6RWT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PA6RWT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PA9T0H Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PA9T0H Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PA9T0H Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PAD43R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PAED2O Noonan syndrome LD2F.15 Orphanet 648 TPD-PAED2O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PAED2O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PAED2O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PAED2O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PAED2O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PAED2O Lynch syndrome 2B90.Y Orphanet 144 TPD-PAED2O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PAED2O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PAGQSH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PAGQSH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PAHD1W Familial melanoma QC61.Y Orphanet 618 TPD-PAHD1W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PAJI86 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PAJI86 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PAJI86 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PAK2O0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PAK2O0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PAK2O0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PAM0EC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PAM0EC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PARV8R Kennedy disease 8B61.4 Orphanet 481 TPD-PARV8R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PARV8R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PARV8R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PASGCK Kennedy disease 8B61.4 Orphanet 481 TPD-PASGCK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PASGCK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PASGCK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PAUSGW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PAUSGW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PAUSGW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PAUUFJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PAUUFJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PAUUFJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PAUUFJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PAUUFJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PAUUFJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PAUUFJ Semantic dementia 6D83 Orphanet 100069 TPD-PAUUFJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PAWY6C Familial melanoma QC61.Y Orphanet 618 TPD-PAWY6C Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PB0CV0 Noonan syndrome LD2F.15 Orphanet 648 TPD-PB0CV0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PB0CV0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PB0CV0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PB0CV0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PB0CV0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PB0CV0 Lynch syndrome 2B90.Y Orphanet 144 TPD-PB0CV0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PB0CV0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PB1TM3 Familial melanoma QC61.Y Orphanet 618 TPD-PB1TM3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PB3195 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PB3195 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PB5T1F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PB5T1F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PB5T1F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PB5T1F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PB6MUW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PB6MUW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PB6MUW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PB6U5V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PB6U5V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PB6U5V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PB6UAW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PB7CVX Noonan syndrome LD2F.15 Orphanet 648 TPD-PB7CVX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PB7CVX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PB7CVX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PB7CVX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PB7CVX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PB7CVX Lynch syndrome 2B90.Y Orphanet 144 TPD-PB7CVX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PB7CVX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PBA2FL Kennedy disease 8B61.4 Orphanet 481 TPD-PBA2FL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PBA2FL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PBA2FL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PBCLBB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PBF5WR Noonan syndrome LD2F.15 Orphanet 648 TPD-PBF5WR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PBF5WR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PBF5WR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PBF5WR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PBF5WR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PBF5WR Lynch syndrome 2B90.Y Orphanet 144 TPD-PBF5WR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PBF5WR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PBI8ZF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PBI8ZF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PBI8ZF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PBL2IK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PBL2IK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PBN63Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PBNXXN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PBPUON Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PBPUON Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PBPUON Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PBS359 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PBXINV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PBXINV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PBXINV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PC0F2K Kennedy disease 8B61.4 Orphanet 481 TPD-PC0F2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PC0F2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PC0F2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PC6D89 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PC6D89 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PC6D89 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PCBVIQ Kennedy disease 8B61.4 Orphanet 481 TPD-PCBVIQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PCBVIQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PCBVIQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PCC4P3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PCEIJP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PCERI7 Kennedy disease 8B61.4 Orphanet 481 TPD-PCERI7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PCERI7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PCERI7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PCJ0JI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PCJ0JI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PCJ0JI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PCO0ML X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PCO0ML Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PCORJ9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PCQMSM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PCQMSM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PCQRRD Familial melanoma QC61.Y Orphanet 618 TPD-PCQRRD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PCXBNT Familial melanoma QC61.Y Orphanet 618 TPD-PCXBNT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PD2CZM Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-PD2LS4 Noonan syndrome LD2F.15 Orphanet 648 TPD-PD2LS4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PD2LS4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PD2LS4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PD2LS4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PD2LS4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PD2LS4 Lynch syndrome 2B90.Y Orphanet 144 TPD-PD2LS4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PD2LS4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PD96NP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PD96NP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PD96NP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PDA243 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PDA243 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PDA243 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PDA243 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PDA243 Neuroblastoma 2A00.11 Orphanet 635 TPD-PDA243 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-PDA243 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-PDA243 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-PDA243 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-PDDXMB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PDEMB7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PDER1J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PDJXK7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PDLAHQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PDLAHQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PDLAHQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PDPIV3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PDQB41 Familial melanoma QC61.Y Orphanet 618 TPD-PDQB41 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PDSR35 Familial melanoma QC61.Y Orphanet 618 TPD-PDSR35 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PDSUCS Kennedy disease 8B61.4 Orphanet 481 TPD-PDSUCS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PDSUCS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PDSUCS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PDSZDD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PDSZDD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PDSZDD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PDTSFI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PDWV7B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PDWV7B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PDZI92 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PDZI92 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PDZI92 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PDZI92 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PE186U Weaver syndrome LD2C Orphanet 3447 TPD-PE6N1S Kennedy disease 8B61.4 Orphanet 481 TPD-PE6N1S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PE6N1S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PE6N1S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PECDYH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PECDYH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PECDYH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PEGG4D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PEGG4D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PEGG4D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PEGG4D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PEIEC6 Noonan syndrome LD2F.15 Orphanet 648 TPD-PEIEC6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PEIEC6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PEIEC6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PEIEC6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PEIEC6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PEIEC6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PEIEC6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PEIEC6 Craniopharyngioma 2F9A Orphanet 54595 TPD-PEIEC6 Cushing disease 5A70.0 Orphanet 96253 TPD-PEL2PO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PEL2PO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PEL2PO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PEL2PO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PEMZ0K Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-PEORV0 Familial melanoma QC61.Y Orphanet 618 TPD-PEORV0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PER429 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PER429 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PER429 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PER429 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PEWHFN Kennedy disease 8B61.4 Orphanet 481 TPD-PEWHFN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PEWHFN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PEWHFN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PEWO50 Kennedy disease 8B61.4 Orphanet 481 TPD-PEWO50 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PEWO50 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PEWO50 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PEZEHY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PEZEHY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PEZEHY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PF1T1N Familial melanoma QC61.Y Orphanet 618 TPD-PF1T1N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PF2OVT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PF2OVT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PF4097 Noonan syndrome LD2F.15 Orphanet 648 TPD-PF4097 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PF4097 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PF4097 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PF4097 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PF4097 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PF4097 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PF4097 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PF4097 Craniopharyngioma 2F9A Orphanet 54595 TPD-PF4097 Cushing disease 5A70.0 Orphanet 96253 TPD-PF7G5K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PF7G5K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PF7G5K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PF7G5K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PF7G5K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PF7G5K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PF7G5K Semantic dementia 6D83 Orphanet 100069 TPD-PF7G5K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PF9VHP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PF9VHP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PFCQOU Kennedy disease 8B61.4 Orphanet 481 TPD-PFCQOU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PFCQOU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PFCQOU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PFFG86 Kennedy disease 8B61.4 Orphanet 481 TPD-PFFG86 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PFFG86 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PFFG86 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PFFLXK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PFG5FV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PFG5FV Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PFIQFR Noonan syndrome LD2F.15 Orphanet 648 TPD-PFIQFR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PFIQFR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PFIQFR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PFIQFR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PFIQFR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PFIQFR Lynch syndrome 2B90.Y Orphanet 144 TPD-PFIQFR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PFIQFR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PFLK0D Kennedy disease 8B61.4 Orphanet 481 TPD-PFLK0D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PFLK0D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PFLK0D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PFN3JZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PFN3JZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PFN3JZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PFWD9M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PFWD9M Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PFX2B7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PFX2B7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PFX2B7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PFX2B7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PFX2B7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PFX2B7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PFX2B7 Semantic dementia 6D83 Orphanet 100069 TPD-PFX2B7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PFY21G Kennedy disease 8B61.4 Orphanet 481 TPD-PFY21G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PFY21G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PFY21G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PFYZBM Noonan syndrome LD2F.15 Orphanet 648 TPD-PFYZBM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PFYZBM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PFYZBM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PFYZBM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PFYZBM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PFYZBM Lynch syndrome 2B90.Y Orphanet 144 TPD-PFYZBM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PFYZBM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PG1TBF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PG1TBF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PG1TBF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PG1TBF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PG1TBF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PG1TBF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PG1TBF Semantic dementia 6D83 Orphanet 100069 TPD-PG1TBF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PG53HZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PG53HZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PG53HZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PG55U9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-PG5NOD Familial melanoma QC61.Y Orphanet 618 TPD-PG5NOD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PG8SE9 Noonan syndrome LD2F.15 Orphanet 648 TPD-PG8SE9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PG8SE9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PG8SE9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PG8SE9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PG8SE9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PG8SE9 Lynch syndrome 2B90.Y Orphanet 144 TPD-PG8SE9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PG8SE9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PGAG4D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PGAG4D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PGAG4D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PGAG4D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PGBDJS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PGBDJS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PGDYVT Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-PGH3WM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PGLO4Q Kennedy disease 8B61.4 Orphanet 481 TPD-PGLO4Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PGLO4Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PGLO4Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PGNIN4 Kennedy disease 8B61.4 Orphanet 481 TPD-PGNIN4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PGNIN4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PGNIN4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PGY2XX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PGY89F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PGYCPI Kennedy disease 8B61.4 Orphanet 481 TPD-PGYCPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PGYCPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PGYCPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PH149A Kennedy disease 8B61.4 Orphanet 481 TPD-PH149A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PH149A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PH149A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PH38JM Kennedy disease 8B61.4 Orphanet 481 TPD-PH38JM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PH38JM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PH38JM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PH6546 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PH6546 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PH6546 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PHGEQS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PHGEQS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PHGEQS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PHGEQS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PHGEQS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PHGEQS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PHGEQS Semantic dementia 6D83 Orphanet 100069 TPD-PHGEQS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PHJVK3 Kennedy disease 8B61.4 Orphanet 481 TPD-PHJVK3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PHJVK3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PHJVK3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PHODQO Kennedy disease 8B61.4 Orphanet 481 TPD-PHODQO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PHODQO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PHODQO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PHOENP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PHOENP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PHOPNU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PHOQNP Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-PHOQNP Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-PHOQNP Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-PHOQNP Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-PHOQNP Primary myelofibrosis 2A20.2 Orphanet 824 TPD-PHOQNP Polycythemia vera 2A20.4 Orphanet 729 TPD-PHOQNP Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-PHQ5A2 Noonan syndrome LD2F.15 Orphanet 648 TPD-PHQ5A2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PHQ5A2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PHQ5A2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PHQ5A2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PHQ5A2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PHQ5A2 Lynch syndrome 2B90.Y Orphanet 144 TPD-PHQ5A2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PHQ5A2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PHSWWZ Familial melanoma QC61.Y Orphanet 618 TPD-PHSWWZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PHWXQU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PHWXQU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PHWXQU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PI24FL Noonan syndrome LD2F.15 Orphanet 648 TPD-PI24FL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PI24FL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PI24FL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PI24FL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PI24FL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PI24FL Lynch syndrome 2B90.Y Orphanet 144 TPD-PI24FL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PI24FL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PI2LH2 Noonan syndrome LD2F.15 Orphanet 648 TPD-PI2LH2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PI2LH2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PI2LH2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PI2LH2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PI2LH2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PI2LH2 Lynch syndrome 2B90.Y Orphanet 144 TPD-PI2LH2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PI2LH2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PI99IW Kennedy disease 8B61.4 Orphanet 481 TPD-PI99IW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PI99IW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PI99IW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PIAJZE Noonan syndrome LD2F.15 Orphanet 648 TPD-PIAJZE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PIAJZE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PIAJZE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PIAJZE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PIAJZE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PIAJZE Lynch syndrome 2B90.Y Orphanet 144 TPD-PIAJZE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PIAJZE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PIEKFX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PIEKFX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PIEKFX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PIESV6 Kennedy disease 8B61.4 Orphanet 481 TPD-PIESV6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PIESV6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PIESV6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PIG35E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PIG35E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PIG35E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PIG35E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PIGBAB Familial melanoma QC61.Y Orphanet 618 TPD-PIGBAB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PIK6IT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PIK6IT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PIK6IT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PIK6IT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PIKVPT Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-PIMTVZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PIN0VM Noonan syndrome LD2F.15 Orphanet 648 TPD-PIN0VM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PIN0VM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PIN0VM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PIN0VM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PIN0VM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PIN0VM Lynch syndrome 2B90.Y Orphanet 144 TPD-PIN0VM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PIN0VM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PINB6T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PINB6T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PINJMG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PINJMG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PINJMG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PINJMG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PINVIM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PINVIM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PIP7CZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PIP7CZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PIP7CZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PIP7CZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PIRS8N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PIRS8N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PIV3F1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PIVLVP Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-PIVLVP Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-PJ0J61 Noonan syndrome LD2F.15 Orphanet 648 TPD-PJ0J61 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PJ0J61 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PJ0J61 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PJ0J61 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PJ0J61 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PJ0J61 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PJ0J61 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PJ0J61 Craniopharyngioma 2F9A Orphanet 54595 TPD-PJ0J61 Cushing disease 5A70.0 Orphanet 96253 TPD-PJ2X5W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PJ2X5W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PJ2X5W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PJ2X5W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PJAZNB Kennedy disease 8B61.4 Orphanet 481 TPD-PJAZNB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PJAZNB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PJAZNB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PJC3ZX Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-PJCA2K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PJCA2K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PJCA2K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PJHKVU Noonan syndrome LD2F.15 Orphanet 648 TPD-PJHKVU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PJHKVU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PJHKVU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PJHKVU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PJHKVU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PJHKVU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PJHKVU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PJHKVU Craniopharyngioma 2F9A Orphanet 54595 TPD-PJHKVU Cushing disease 5A70.0 Orphanet 96253 TPD-PJKJ1L Noonan syndrome LD2F.15 Orphanet 648 TPD-PJKJ1L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PJKJ1L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PJKJ1L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PJKJ1L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PJKJ1L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PJKJ1L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PJKJ1L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PJKJ1L Craniopharyngioma 2F9A Orphanet 54595 TPD-PJKJ1L Cushing disease 5A70.0 Orphanet 96253 TPD-PJN4PL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PJOHXF Kennedy disease 8B61.4 Orphanet 481 TPD-PJOHXF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PJOHXF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PJOHXF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PJUBUW Noonan syndrome LD2F.15 Orphanet 648 TPD-PJUBUW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PJUBUW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PJUBUW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PJUBUW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PJUBUW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PJUBUW Lynch syndrome 2B90.Y Orphanet 144 TPD-PJUBUW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PJUBUW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PJUTGR Noonan syndrome LD2F.15 Orphanet 648 TPD-PJUTGR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PJUTGR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PJUTGR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PJUTGR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PJUTGR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PJUTGR Lynch syndrome 2B90.Y Orphanet 144 TPD-PJUTGR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PJUTGR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PJW23Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PK0W5H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-PK0W5H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-PK2ZQJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PK4E41 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PK4E41 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PK4E41 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PK51B0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PK51B0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PK59R0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PK59R0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PK59R0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PK5JM1 Noonan syndrome LD2F.15 Orphanet 648 TPD-PK5JM1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PK5JM1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PK5JM1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PK5JM1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PK5JM1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PK5JM1 Lynch syndrome 2B90.Y Orphanet 144 TPD-PK5JM1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PK5JM1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PK5YZK Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-PK6NS3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PK6NS3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PK8X21 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PK8X21 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PKA4WX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PKA4WX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PKA4WX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PKB2SD Familial melanoma QC61.Y Orphanet 618 TPD-PKB2SD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PKDI3W Noonan syndrome LD2F.15 Orphanet 648 TPD-PKDI3W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PKDI3W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKDI3W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PKDI3W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKDI3W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PKDI3W Lynch syndrome 2B90.Y Orphanet 144 TPD-PKDI3W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PKDI3W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PKDTLN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PKGJS6 Kennedy disease 8B61.4 Orphanet 481 TPD-PKGJS6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PKGJS6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PKGJS6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PKH1SZ Kennedy disease 8B61.4 Orphanet 481 TPD-PKH1SZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PKH1SZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PKH1SZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PKJIDN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PKKOSY Noonan syndrome LD2F.15 Orphanet 648 TPD-PKKOSY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PKKOSY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKKOSY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PKKOSY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKKOSY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PKKOSY Lynch syndrome 2B90.Y Orphanet 144 TPD-PKKOSY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PKKOSY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PKL59W Noonan syndrome LD2F.15 Orphanet 648 TPD-PKL59W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PKL59W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKL59W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PKL59W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKL59W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PKL59W Lynch syndrome 2B90.Y Orphanet 144 TPD-PKL59W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PKL59W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PKPGZN Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PKPKGM Noonan syndrome LD2F.15 Orphanet 648 TPD-PKPKGM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PKPKGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKPKGM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PKPKGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKPKGM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PKPKGM Lynch syndrome 2B90.Y Orphanet 144 TPD-PKPKGM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PKPKGM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PKQPVU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PKQPVU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PKQPVU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PKQPVU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PKQPVU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PKQPVU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PKQPVU Semantic dementia 6D83 Orphanet 100069 TPD-PKQPVU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PKQQMX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PKQQMX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PKQQMX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PKQQMX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PKRTMJ Weaver syndrome LD2C Orphanet 3447 TPD-PKU320 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PKU320 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PKV8DW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PKV8DW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PKWX16 Kennedy disease 8B61.4 Orphanet 481 TPD-PKWX16 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PKWX16 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PKWX16 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PKXGZZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PKY5RD Noonan syndrome LD2F.15 Orphanet 648 TPD-PKY5RD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PKY5RD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PKY5RD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKY5RD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKY5RD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PKY5RD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PKY5RD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PKY5RD Craniopharyngioma 2F9A Orphanet 54595 TPD-PKY5RD Cushing disease 5A70.0 Orphanet 96253 TPD-PKY5RD Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-PKZ723 Noonan syndrome LD2F.15 Orphanet 648 TPD-PKZ723 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PKZ723 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PKZ723 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PKZ723 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PKZ723 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PKZ723 Lynch syndrome 2B90.Y Orphanet 144 TPD-PKZ723 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PKZ723 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PKZRRI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-PKZRRI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-PL6FTK Kennedy disease 8B61.4 Orphanet 481 TPD-PL6FTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PL6FTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PL6FTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PLB8ND Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-PLB8ND Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-PLFSD1 Kennedy disease 8B61.4 Orphanet 481 TPD-PLFSD1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PLFSD1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PLFSD1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PLJMG5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PLMEHW Kennedy disease 8B61.4 Orphanet 481 TPD-PLMEHW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PLMEHW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PLMEHW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PLPHXK Noonan syndrome LD2F.15 Orphanet 648 TPD-PLPHXK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PLPHXK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PLPHXK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PLPHXK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PLPHXK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PLPHXK Lynch syndrome 2B90.Y Orphanet 144 TPD-PLPHXK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PLPHXK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PLPZXW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PLVLJB Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-PLVLJB Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-PLVLJB Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-PLX1P2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PLX1P2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PLX1P2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PM0D4B Noonan syndrome LD2F.15 Orphanet 648 TPD-PM0D4B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PM0D4B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PM0D4B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PM0D4B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PM0D4B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PM0D4B Lynch syndrome 2B90.Y Orphanet 144 TPD-PM0D4B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PM0D4B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PM46YH Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-PM46YH Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-PM46YH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PM46YH Distal myopathy, Welander type 8C75 Orphanet 603 TPD-PM46YH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PM4JC6 Familial melanoma QC61.Y Orphanet 618 TPD-PM65CF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PM7UET Kennedy disease 8B61.4 Orphanet 481 TPD-PM7UET Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PM7UET Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PM7UET Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PMAXE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-PMAXE4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PMAXE4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PMAXE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PMAXE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PMAXE4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PMAXE4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PMAXE4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PMAXE4 Craniopharyngioma 2F9A Orphanet 54595 TPD-PMAXE4 Cushing disease 5A70.0 Orphanet 96253 TPD-PMDZQR Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PMDZQR Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PMDZQR Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PMDZQR Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PMDZQR Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PMDZQR Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PMDZQR Semantic dementia 6D83 Orphanet 100069 TPD-PMDZQR Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PMEM1C Noonan syndrome LD2F.15 Orphanet 648 TPD-PMEM1C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PMEM1C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PMEM1C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PMEM1C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PMEM1C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PMEM1C Lynch syndrome 2B90.Y Orphanet 144 TPD-PMEM1C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PMEM1C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PMF9CG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PMF9CG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PMFQZC Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-PMFQZC Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-PMFQZC Primary myelofibrosis 2A20.2 Orphanet 824 TPD-PMFQZC Polycythemia vera 2A20.4 Orphanet 729 TPD-PMFQZC Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-PMFQZC Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-PMFQZC T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-PMGP6I Kennedy disease 8B61.4 Orphanet 481 TPD-PMGP6I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PMGP6I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PMGP6I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PMGU7T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PMH5S6 Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-PMH5S6 Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-PMH5S6 Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-PMH5S6 Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-PMJ9XF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PMJEUL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PMLPXL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PMLPXL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PMLPXL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PMLPXL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PMMZDE Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-PMMZDE Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-PMMZDE Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-PMMZDE Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-PMMZDE Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-PMMZDE Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-PMMZDE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PMMZDE Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-PMMZDE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-PMNY3E Kennedy disease 8B61.4 Orphanet 481 TPD-PMNY3E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PMNY3E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PMNY3E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PMSQBB Kennedy disease 8B61.4 Orphanet 481 TPD-PMSQBB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PMSQBB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PMSQBB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PMUOQ3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PMXP4F Kennedy disease 8B61.4 Orphanet 481 TPD-PMXP4F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PMXP4F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PMXP4F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PMY2FL Familial melanoma QC61.Y Orphanet 618 TPD-PMY7DE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PN28KY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PN28KY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PN28KY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PN2H5H Kennedy disease 8B61.4 Orphanet 481 TPD-PN2H5H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PN2H5H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PN2H5H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PN30G6 Noonan syndrome LD2F.15 Orphanet 648 TPD-PN30G6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PN30G6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PN30G6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PN30G6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PN30G6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PN30G6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PN30G6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PN30G6 Craniopharyngioma 2F9A Orphanet 54595 TPD-PN30G6 Cushing disease 5A70.0 Orphanet 96253 TPD-PN3O2M Kennedy disease 8B61.4 Orphanet 481 TPD-PN3O2M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PN3O2M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PN3O2M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PN97KF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PN97KF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PN9NH4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PN9NH4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PN9NH4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PNBI8G Noonan syndrome LD2F.15 Orphanet 648 TPD-PNBI8G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PNBI8G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PNBI8G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PNBI8G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PNBI8G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PNBI8G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PNBI8G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PNBI8G Craniopharyngioma 2F9A Orphanet 54595 TPD-PNBI8G Cushing disease 5A70.0 Orphanet 96253 TPD-PND18P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PND18P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PND18P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PNL4BQ Familial melanoma QC61.Y Orphanet 618 TPD-PNLDXU Noonan syndrome LD2F.15 Orphanet 648 TPD-PNLDXU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PNLDXU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PNLDXU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PNLDXU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PNLDXU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PNLDXU Lynch syndrome 2B90.Y Orphanet 144 TPD-PNLDXU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PNLDXU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PNVAYV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PNVAYV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PNVAYV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PNVLIV Noonan syndrome LD2F.15 Orphanet 648 TPD-PNVLIV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PNVLIV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PNVLIV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PNVLIV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PNVLIV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PNVLIV Lynch syndrome 2B90.Y Orphanet 144 TPD-PNVLIV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PNVLIV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PNW0RK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PNW0RK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PNW0RK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PNW0RK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PNW0RK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PNW0RK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PNW0RK Semantic dementia 6D83 Orphanet 100069 TPD-PNW0RK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PNX2SL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PO2GE4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PO2I44 Kennedy disease 8B61.4 Orphanet 481 TPD-PO2I44 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PO2I44 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PO2I44 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PO3GDJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PO5FP8 Noonan syndrome LD2F.15 Orphanet 648 TPD-PO5FP8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PO5FP8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PO5FP8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PO5FP8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PO5FP8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PO5FP8 Lynch syndrome 2B90.Y Orphanet 144 TPD-PO5FP8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PO5FP8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PO78F2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PO78F2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PO78F2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PO7LI2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PO7Q6X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PO9KEU Kennedy disease 8B61.4 Orphanet 481 TPD-PO9KEU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PO9KEU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PO9KEU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PO9VUW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PO9VUW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PO9VUW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PO9VUW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-POE8TN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-POE8TN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-POE8TN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-POE8XA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-POE8XA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-POE8XA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-POE8XA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-POE8XA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-POE8XA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-POE8XA Semantic dementia 6D83 Orphanet 100069 TPD-POE8XA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-POG3L1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-POG3L1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-POIBM4 Noonan syndrome LD2F.15 Orphanet 648 TPD-POIBM4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-POIBM4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-POIBM4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-POIBM4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-POIBM4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-POIBM4 Lynch syndrome 2B90.Y Orphanet 144 TPD-POIBM4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-POIBM4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-POL8PU Familial melanoma QC61.Y Orphanet 618 TPD-POL8PU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PON4QQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-PONNO8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PONNO8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PONNO8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PONNO8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-POQ82O Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-POTQAB Kennedy disease 8B61.4 Orphanet 481 TPD-POTQAB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-POTQAB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-POTQAB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-POUP1L Kennedy disease 8B61.4 Orphanet 481 TPD-POUP1L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-POUP1L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-POUP1L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-POXXVU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-POYA7U Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-POYA7U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-POYA7U Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-PP14EG Kennedy disease 8B61.4 Orphanet 481 TPD-PP14EG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PP14EG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PP14EG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PP3VBR Noonan syndrome LD2F.15 Orphanet 648 TPD-PP3VBR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PP3VBR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PP3VBR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PP3VBR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PP3VBR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PP3VBR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PP3VBR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PP3VBR Craniopharyngioma 2F9A Orphanet 54595 TPD-PP3VBR Cushing disease 5A70.0 Orphanet 96253 TPD-PP5J1D Noonan syndrome LD2F.15 Orphanet 648 TPD-PP5J1D Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PP5J1D Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PP5J1D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PP5J1D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PP5J1D Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PP5J1D Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PP5J1D Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PP5J1D Craniopharyngioma 2F9A Orphanet 54595 TPD-PP5J1D Cushing disease 5A70.0 Orphanet 96253 TPD-PPD40N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PPD40N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PPD40N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PPGAPD Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-PPGAPD Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-PPHRR4 Familial melanoma QC61.Y Orphanet 618 TPD-PPHTYK Kennedy disease 8B61.4 Orphanet 481 TPD-PPHTYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PPHTYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PPHTYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PPJMKT Noonan syndrome LD2F.15 Orphanet 648 TPD-PPJMKT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PPJMKT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PPJMKT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PPJMKT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PPJMKT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PPJMKT Lynch syndrome 2B90.Y Orphanet 144 TPD-PPJMKT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PPJMKT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PPN142 Kennedy disease 8B61.4 Orphanet 481 TPD-PPN142 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PPN142 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PPN142 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PPQJ2R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PPQJ2R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PPQJ2R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PPR0EE Noonan syndrome LD2F.15 Orphanet 648 TPD-PPR0EE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PPR0EE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PPR0EE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PPR0EE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PPR0EE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PPR0EE Lynch syndrome 2B90.Y Orphanet 144 TPD-PPR0EE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PPR0EE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PPUO5O Kennedy disease 8B61.4 Orphanet 481 TPD-PPUO5O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PPUO5O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PPUO5O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PPV1UY Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PPV1UY Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PPV1UY Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PPV1UY Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PPV1UY Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PPV1UY Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PPV1UY Semantic dementia 6D83 Orphanet 100069 TPD-PPV1UY Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PPXO1W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PPXO1W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PQ02QS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PQ02QS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PQ02QS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PQ03EI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PQ03EI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PQ03EI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PQ21A8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PQ21A8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PQ21A8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PQ21A8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PQ6LID Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PQ6LID Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PQBOKN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PQBOKN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PQBOKN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PQBOKN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PQDXKD Kennedy disease 8B61.4 Orphanet 481 TPD-PQDXKD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PQDXKD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PQDXKD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PQFQ0N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PQHJI7 Familial melanoma QC61.Y Orphanet 618 TPD-PQHJI7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PQHOHR ATTRV30M amyloidosis 5D00.20 Orphanet 85447 TPD-PQHOHR ATTRV122I amyloidosis 5D00.20 Orphanet 85451 TPD-PQHOHR Euthyroid dysprealbuminemic hyperthyroxinemia 5A0Y Orphanet 597939 TPD-PQLJ6T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PQLJ6T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PQM8I7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PQM8I7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PQMJWE Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-PQMJWE Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-PQOEZN Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-PQOEZN Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-PQOEZN Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-PQOEZN Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-PQOEZN Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-PQOEZN Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-PQOEZN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PQOEZN Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-PQOEZN Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-PQRM07 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PQS4LR Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PQS4LR Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PQS4LR Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PQS4LR Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PQS4LR Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PQS4LR Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PQS4LR Semantic dementia 6D83 Orphanet 100069 TPD-PQS4LR Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PQVQUK Noonan syndrome LD2F.15 Orphanet 648 TPD-PQVQUK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PQVQUK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PQVQUK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PQVQUK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PQVQUK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PQVQUK Lynch syndrome 2B90.Y Orphanet 144 TPD-PQVQUK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PQVQUK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PQXI8B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PQXI8B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PQXI8B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PQXI8B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PR024P Noonan syndrome LD2F.15 Orphanet 648 TPD-PR024P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PR024P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PR024P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PR024P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PR024P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PR024P Lynch syndrome 2B90.Y Orphanet 144 TPD-PR024P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PR024P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PR2HFJ Kennedy disease 8B61.4 Orphanet 481 TPD-PR2HFJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PR2HFJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PR2HFJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PR3R7W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PR3R7W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PR5X4F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PR8K6A Kennedy disease 8B61.4 Orphanet 481 TPD-PR8K6A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PR8K6A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PR8K6A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PR9LDV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PR9LDV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PR9LDV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PRDBK4 Noonan syndrome LD2F.15 Orphanet 648 TPD-PRDBK4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PRDBK4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PRDBK4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PRDBK4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PRDBK4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PRDBK4 Lynch syndrome 2B90.Y Orphanet 144 TPD-PRDBK4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PRDBK4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PRFKUF Kennedy disease 8B61.4 Orphanet 481 TPD-PRFKUF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PRFKUF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PRFKUF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PRFSVF Noonan syndrome LD2F.15 Orphanet 648 TPD-PRFSVF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PRFSVF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PRFSVF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PRFSVF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PRFSVF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PRFSVF Lynch syndrome 2B90.Y Orphanet 144 TPD-PRFSVF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PRFSVF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PRG6CB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PRG6CB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PRGJYM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PRGJYM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PRGJYM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PRHP0S Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PRHP0S Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PRHP0S Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PRHP0S Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PRHP0S Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PRHP0S Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PRHP0S Semantic dementia 6D83 Orphanet 100069 TPD-PRHP0S Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PRI95V Familial melanoma QC61.Y Orphanet 618 TPD-PRI95V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PRIJBJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PRIJBJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PRJYUG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PRMP6Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PRQPM9 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-PRRC0G Familial melanoma QC61.Y Orphanet 618 TPD-PRRC0G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PRTHTP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PRV0MU Kennedy disease 8B61.4 Orphanet 481 TPD-PRV0MU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PRV0MU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PRV0MU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PRW72J Familial melanoma QC61.Y Orphanet 618 TPD-PRW72J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PRWOKY Noonan syndrome LD2F.15 Orphanet 648 TPD-PRWOKY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PRWOKY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PRWOKY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PRWOKY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PRWOKY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PRWOKY Lynch syndrome 2B90.Y Orphanet 144 TPD-PRWOKY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PRWOKY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PRWZ85 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-PRXB84 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PRXB84 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PRXB84 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PRXB84 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PS1RE2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PS1RE2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PS1RE2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PS27VP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PS6S6O Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-PSDE4Y Kennedy disease 8B61.4 Orphanet 481 TPD-PSDE4Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PSDE4Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PSDE4Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PSEQHH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PSEQHH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PSEQHH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PSOU1B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PSQP57 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PSRX18 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PSRX18 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PSRX18 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PSUJ02 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PSWE6A Kennedy disease 8B61.4 Orphanet 481 TPD-PSWE6A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PSWE6A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PSWE6A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PSYB9W Familial melanoma QC61.Y Orphanet 618 TPD-PSYB9W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PT2RDC Noonan syndrome LD2F.15 Orphanet 648 TPD-PT2RDC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PT2RDC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PT2RDC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PT2RDC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PT2RDC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PT2RDC Lynch syndrome 2B90.Y Orphanet 144 TPD-PT2RDC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PT2RDC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PT2WW8 Papillary renal cell carcinoma 2C90.Y Orphanet 319298 TPD-PT2WW8 Hereditary papillary renal cell carcinoma 2C90.Y Orphanet 47044 TPD-PT2WW8 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB AB50 Orphanet 90636 TPD-PT3UQE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PT6Q56 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PT6Q56 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PT9TGE Noonan syndrome LD2F.15 Orphanet 648 TPD-PT9TGE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PT9TGE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PT9TGE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PT9TGE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PT9TGE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PT9TGE Lynch syndrome 2B90.Y Orphanet 144 TPD-PT9TGE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PT9TGE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PTBK5C Familial melanoma QC61.Y Orphanet 618 TPD-PTD1PY Noonan syndrome LD2F.15 Orphanet 648 TPD-PTD1PY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PTD1PY Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PTD1PY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PTD1PY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PTD1PY Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PTD1PY Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PTD1PY Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PTD1PY Craniopharyngioma 2F9A Orphanet 54595 TPD-PTD1PY Cushing disease 5A70.0 Orphanet 96253 TPD-PTD1PY Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-PTF9Y0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PTF9Y0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PTF9Y0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PTLVKR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PTSMPH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PTSMPH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PTU7DA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-PTU7DA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-PTZGVX Kennedy disease 8B61.4 Orphanet 481 TPD-PTZGVX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PTZGVX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PTZGVX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PU2GT1 Familial melanoma QC61.Y Orphanet 618 TPD-PU2GT1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PU2X6J Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-PU63C6 X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-PUB39B Kennedy disease 8B61.4 Orphanet 481 TPD-PUB39B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PUB39B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PUB39B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PUFCIL Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-PUFCIL Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-PUFCIL Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-PUFYTZ Kennedy disease 8B61.4 Orphanet 481 TPD-PUFYTZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PUFYTZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PUFYTZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PUGLQT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PUGLQT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PUGLQT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PUGLQT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PUGLQT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PUGLQT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PUGLQT Semantic dementia 6D83 Orphanet 100069 TPD-PUGLQT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PULWOP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PULWOP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PUNYW5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PUO8JO 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-PUOMU8 Kennedy disease 8B61.4 Orphanet 481 TPD-PUOMU8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PUOMU8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PUOMU8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PUP3I3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PUYITD Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-PUYITD Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-PUYITD Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-PUYITD Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-PUYITD Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-PUYITD Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-PUYITD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PUYITD Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-PUYITD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-PV136D Familial melanoma QC61.Y Orphanet 618 TPD-PV136D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PV3DUX Noonan syndrome LD2F.15 Orphanet 648 TPD-PV3DUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PV3DUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PV3DUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PV3DUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PV3DUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PV3DUX Lynch syndrome 2B90.Y Orphanet 144 TPD-PV3DUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PV3DUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PV3Z7W Weaver syndrome LD2C Orphanet 3447 TPD-PV52CI Kennedy disease 8B61.4 Orphanet 481 TPD-PV52CI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PV52CI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PV52CI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PV52K6 Kennedy disease 8B61.4 Orphanet 481 TPD-PV52K6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PV52K6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PV52K6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PVB0DI Kennedy disease 8B61.4 Orphanet 481 TPD-PVB0DI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PVB0DI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PVB0DI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PVCFM5 Kennedy disease 8B61.4 Orphanet 481 TPD-PVCFM5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PVCFM5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PVCFM5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PVDDQG Weaver syndrome LD2C Orphanet 3447 TPD-PVEHBK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PVEHBK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PVEHBK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PVFKT3 Kennedy disease 8B61.4 Orphanet 481 TPD-PVFKT3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PVFKT3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PVFKT3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PVFOJN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PVMTFT Noonan syndrome LD2F.15 Orphanet 648 TPD-PVMTFT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PVMTFT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PVMTFT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PVMTFT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PVMTFT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PVMTFT Lynch syndrome 2B90.Y Orphanet 144 TPD-PVMTFT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PVMTFT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PVNBXK Familial melanoma QC61.Y Orphanet 618 TPD-PVNBXK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PVNUD9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PVR2GX Noonan syndrome LD2F.15 Orphanet 648 TPD-PVR2GX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PVR2GX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PVR2GX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PVR2GX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PVR2GX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PVR2GX Lynch syndrome 2B90.Y Orphanet 144 TPD-PVR2GX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PVR2GX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PVSC2Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PVSC2Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PVTJSQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PVTJSQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PVTJSQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PVTJSQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PVU2SB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PVU2SB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PVXS1Z Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-PVXS1Z Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-PVXS1Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PVXS1Z Distal myopathy, Welander type 8C75 Orphanet 603 TPD-PW0U7U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PW0U7U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PW0U7U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PW35EW Kennedy disease 8B61.4 Orphanet 481 TPD-PW35EW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PW35EW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PW35EW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PW59M0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PW7RFK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PWA1RG Kennedy disease 8B61.4 Orphanet 481 TPD-PWA1RG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PWA1RG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PWA1RG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PWC16X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PWC16X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PWH0TU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PWH0TU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PWH0TU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PWJPIH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PWJPIH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PWJPIH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PWLZHW Kennedy disease 8B61.4 Orphanet 481 TPD-PWLZHW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PWLZHW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PWLZHW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PWM4AF Noonan syndrome LD2F.15 Orphanet 648 TPD-PWM4AF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PWM4AF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PWM4AF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PWM4AF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PWM4AF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PWM4AF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PWM4AF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PWM4AF Craniopharyngioma 2F9A Orphanet 54595 TPD-PWM4AF Cushing disease 5A70.0 Orphanet 96253 TPD-PWOI53 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PWPZMC Noonan syndrome LD2F.15 Orphanet 648 TPD-PWPZMC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PWPZMC Metachondromatosis LD24.2Y Orphanet 2499 TPD-PWPZMC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PWQ5B4 Noonan syndrome LD2F.15 Orphanet 648 TPD-PWQ5B4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PWQ5B4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PWQ5B4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PWQ5B4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PWQ5B4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PWQ5B4 Lynch syndrome 2B90.Y Orphanet 144 TPD-PWQ5B4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PWQ5B4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PWS01U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PWS01U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PWS01U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PWUGYO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PWUGYO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PWUGYO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PWUGYO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PWYVNZ Kennedy disease 8B61.4 Orphanet 481 TPD-PWYVNZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PWYVNZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PWYVNZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PWZ7TJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PX42YS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PX47TB Kennedy disease 8B61.4 Orphanet 481 TPD-PX47TB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PX47TB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PX47TB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PX7KTX Noonan syndrome LD2F.15 Orphanet 648 TPD-PX7KTX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PX7KTX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PX7KTX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PX7KTX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PX7KTX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PX7KTX Lynch syndrome 2B90.Y Orphanet 144 TPD-PX7KTX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PX7KTX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PX7TYJ Kennedy disease 8B61.4 Orphanet 481 TPD-PX7TYJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PX7TYJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PX7TYJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PXBN3Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PXBN3Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PXDN9M Noonan syndrome LD2F.15 Orphanet 648 TPD-PXDN9M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-PXDN9M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-PXDN9M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PXDN9M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PXDN9M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-PXDN9M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-PXDN9M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-PXDN9M Craniopharyngioma 2F9A Orphanet 54595 TPD-PXDN9M Cushing disease 5A70.0 Orphanet 96253 TPD-PXDX1P CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PXED6S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PXHAZW Noonan syndrome LD2F.15 Orphanet 648 TPD-PXHAZW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PXHAZW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PXHAZW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PXHAZW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PXHAZW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PXHAZW Lynch syndrome 2B90.Y Orphanet 144 TPD-PXHAZW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PXHAZW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PXJ3JN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PXJ3JN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PXJUEG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PXORJN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PXORJN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PXQ8P6 Kennedy disease 8B61.4 Orphanet 481 TPD-PXQ8P6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PXQ8P6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PXQ8P6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PXQFCU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PXQFCU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PXQFCU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PXQFCU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PXR7AX Noonan syndrome LD2F.15 Orphanet 648 TPD-PXR7AX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PXR7AX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PXR7AX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PXR7AX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PXR7AX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PXR7AX Lynch syndrome 2B90.Y Orphanet 144 TPD-PXR7AX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PXR7AX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PXRKF4 Kennedy disease 8B61.4 Orphanet 481 TPD-PXRKF4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PXRKF4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PXRKF4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PXSMUR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PXSMUR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PXUNLJ Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-PXYQMZ Noonan syndrome LD2F.15 Orphanet 648 TPD-PXYQMZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-PXYSU6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PXYSU6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PXYSU6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PXYSU6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-PY2AGN Kennedy disease 8B61.4 Orphanet 481 TPD-PY2AGN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PY2AGN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PY2AGN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PY8R0L Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-PYARMN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PYARMN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PYARMN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PYB6UH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PYBN6M Familial melanoma QC61.Y Orphanet 618 TPD-PYBN6M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PYCAJF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PYD7IF Familial melanoma QC61.Y Orphanet 618 TPD-PYD7IF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-PYHZFP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-PYHZFP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-PYHZFP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-PYJ7BZ Noonan syndrome LD2F.15 Orphanet 648 TPD-PYJ7BZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PYJ7BZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PYJ7BZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PYJ7BZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PYJ7BZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PYJ7BZ Lynch syndrome 2B90.Y Orphanet 144 TPD-PYJ7BZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PYJ7BZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PYMO6A Noonan syndrome LD2F.15 Orphanet 648 TPD-PYMO6A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PYMO6A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PYMO6A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PYMO6A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PYMO6A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PYMO6A Lynch syndrome 2B90.Y Orphanet 144 TPD-PYMO6A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PYMO6A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PYMPHQ Noonan syndrome LD2F.15 Orphanet 648 TPD-PYMPHQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PYMPHQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PYMPHQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PYMPHQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PYMPHQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PYMPHQ Lynch syndrome 2B90.Y Orphanet 144 TPD-PYMPHQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PYMPHQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PYNE6F Kennedy disease 8B61.4 Orphanet 481 TPD-PYNE6F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PYNE6F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PYNE6F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PYS8FN Noonan syndrome LD2F.15 Orphanet 648 TPD-PYS8FN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PYS8FN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PYS8FN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PYS8FN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PYS8FN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PYS8FN Lynch syndrome 2B90.Y Orphanet 144 TPD-PYS8FN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PYS8FN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PYVCO0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PYVCO0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PZ17HW Noonan syndrome LD2F.15 Orphanet 648 TPD-PZ17HW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PZ17HW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PZ17HW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PZ17HW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PZ17HW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PZ17HW Lynch syndrome 2B90.Y Orphanet 144 TPD-PZ17HW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PZ17HW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PZ2SI9 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PZ2SI9 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PZ2SI9 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PZ2SI9 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PZ2SI9 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PZ2SI9 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PZ2SI9 Semantic dementia 6D83 Orphanet 100069 TPD-PZ2SI9 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PZ685I Kennedy disease 8B61.4 Orphanet 481 TPD-PZ685I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PZ685I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PZ685I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PZ6HI9 Kennedy disease 8B61.4 Orphanet 481 TPD-PZ6HI9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PZ6HI9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PZ6HI9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PZ88EL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-PZA5OK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-PZCQZH Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-PZCQZH Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-PZCY9R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PZCY9R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PZD0O3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-PZD0O3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-PZHFZD Kennedy disease 8B61.4 Orphanet 481 TPD-PZHFZD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PZHFZD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PZHFZD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PZI1P7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PZI5D9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-PZI5D9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-PZI5D9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PZIA8S Noonan syndrome LD2F.15 Orphanet 648 TPD-PZIA8S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PZIA8S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PZIA8S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PZIA8S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PZIA8S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PZIA8S Lynch syndrome 2B90.Y Orphanet 144 TPD-PZIA8S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PZIA8S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PZIW4W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-PZMEU5 Kennedy disease 8B61.4 Orphanet 481 TPD-PZMEU5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-PZMEU5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-PZMEU5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-PZNHO9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PZNHO9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PZNHO9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-PZNIZ6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-PZNIZ6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-PZPSKU Noonan syndrome LD2F.15 Orphanet 648 TPD-PZPSKU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-PZPSKU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-PZPSKU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-PZPSKU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-PZPSKU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-PZPSKU Lynch syndrome 2B90.Y Orphanet 144 TPD-PZPSKU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-PZPSKU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-PZR0Q1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-PZSU3S Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-PZSU3S Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-PZSU3S Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-PZSU3S Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-PZSU3S Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-PZSU3S Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-PZSU3S Semantic dementia 6D83 Orphanet 100069 TPD-PZSU3S Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-PZXBPU Weaver syndrome LD2C Orphanet 3447 TPD-PZYNUP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-PZYNUP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-PZYNUP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q053O8 Kennedy disease 8B61.4 Orphanet 481 TPD-Q053O8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q053O8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q053O8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q071TY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q071TY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Q09PHO Kennedy disease 8B61.4 Orphanet 481 TPD-Q09PHO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q09PHO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q09PHO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q0C3CP Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-Q0DKYW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q0DKYW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q0FSDD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q0FSDD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q0FSDD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q0G4PW Noonan syndrome LD2F.15 Orphanet 648 TPD-Q0G4PW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q0G4PW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q0G4PW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q0G4PW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q0G4PW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q0G4PW Lynch syndrome 2B90.Y Orphanet 144 TPD-Q0G4PW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q0G4PW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q0GL7U Noonan syndrome LD2F.15 Orphanet 648 TPD-Q0GL7U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q0GL7U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q0GL7U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q0GL7U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q0GL7U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q0GL7U Lynch syndrome 2B90.Y Orphanet 144 TPD-Q0GL7U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q0GL7U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q0J1NM Noonan syndrome LD2F.15 Orphanet 648 TPD-Q0J1NM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Q0J1NM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Q0J1NM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q0J1NM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q0J1NM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Q0J1NM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Q0J1NM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Q0J1NM Craniopharyngioma 2F9A Orphanet 54595 TPD-Q0J1NM Cushing disease 5A70.0 Orphanet 96253 TPD-Q0JO8A Kennedy disease 8B61.4 Orphanet 481 TPD-Q0JO8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q0JO8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q0JO8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q0KTJM Kennedy disease 8B61.4 Orphanet 481 TPD-Q0KTJM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q0KTJM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q0KTJM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q0KU8K Kennedy disease 8B61.4 Orphanet 481 TPD-Q0KU8K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q0KU8K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q0KU8K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q0M3L9 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q0M3L9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q0M3L9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q0M3L9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q0M3L9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q0M3L9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q0M3L9 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q0M3L9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q0M3L9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q0NCMX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q0NCMX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q0NCMX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q0NCMX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q0NW5R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Q0NWB7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Q0NWB7 Neuroblastoma 2A00.11 Orphanet 635 TPD-Q0NWB7 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-Q0NWB7 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-Q0NWB7 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-Q0O8LE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Q0O8LE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Q0O8LE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Q0O8LE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Q0O8LE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Q0O8LE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Q0O8LE Semantic dementia 6D83 Orphanet 100069 TPD-Q0O8LE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Q0OACW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Q0OI8Q Familial melanoma QC61.Y Orphanet 618 TPD-Q0OI8Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q0QIYL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q0QIYL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q0QIYL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q0R2ZC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q0R2ZC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q0R2ZC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q0R2ZC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q0RUTT Noonan syndrome LD2F.15 Orphanet 648 TPD-Q0RUTT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q0RUTT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q0RUTT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q0RUTT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q0RUTT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q0RUTT Lynch syndrome 2B90.Y Orphanet 144 TPD-Q0RUTT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q0RUTT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q0TFJZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Q0TFJZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Q0TFJZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Q0TFJZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Q0TFJZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Q0TFJZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Q0TFJZ Semantic dementia 6D83 Orphanet 100069 TPD-Q0TFJZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Q0W8OR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q0W8OR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q0W8OR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q103P7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q103P7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q16BOQ Familial melanoma QC61.Y Orphanet 618 TPD-Q16BOQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q1CH9W Achondroplasia LD24.00 Orphanet 15 TPD-Q1CH9W Hypochondroplasia LD24.01 Orphanet 429 TPD-Q1CH9W Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-Q1CH9W Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-Q1CH9W Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-Q1CH9W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q1CH9W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q1CH9W Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-Q1CH9W Muenke syndrome LD24.GY Orphanet 53271 TPD-Q1CH9W Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-Q1CH9W Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-Q1CH9W Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-Q1D03S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q1D03S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q1D03S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q1D03S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q1EHFN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Q1ET53 Kennedy disease 8B61.4 Orphanet 481 TPD-Q1ET53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q1ET53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q1ET53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q1FSPC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q1FSPC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q1FUBU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q1FUBU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Q1QV6W Familial melanoma QC61.Y Orphanet 618 TPD-Q1QV6W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q1SB0S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q1SB0S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q1SB0S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q1SB0S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q1SCVR Kennedy disease 8B61.4 Orphanet 481 TPD-Q1SCVR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q1SCVR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q1SCVR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q1T21C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q1T21C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q1TIIG Noonan syndrome LD2F.15 Orphanet 648 TPD-Q1TIIG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q1TIIG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q1TIIG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q1TIIG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q1TIIG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q1TIIG Lynch syndrome 2B90.Y Orphanet 144 TPD-Q1TIIG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q1TIIG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q1UJPB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q1UJPB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q1YH6K Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q20QAW Familial melanoma QC61.Y Orphanet 618 TPD-Q20QAW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q21RUP Kennedy disease 8B61.4 Orphanet 481 TPD-Q21RUP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q21RUP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q21RUP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q22ORC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q22ORC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q22ORC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q24CCD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q24CCD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q24CCD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q24CCD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q26FTF Noonan syndrome LD2F.15 Orphanet 648 TPD-Q26FTF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q26FTF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q26FTF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q26FTF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q26FTF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q26FTF Lynch syndrome 2B90.Y Orphanet 144 TPD-Q26FTF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q26FTF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q27B1D Noonan syndrome LD2F.15 Orphanet 648 TPD-Q27B1D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q27B1D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q27B1D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q27B1D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q27B1D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q27B1D Lynch syndrome 2B90.Y Orphanet 144 TPD-Q27B1D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q27B1D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q27UQM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q284CE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q2BC9N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q2BC9N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q2BC9N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q2CRCY Noonan syndrome LD2F.15 Orphanet 648 TPD-Q2CRCY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q2CRCY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q2CRCY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q2CRCY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q2CRCY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q2CRCY Lynch syndrome 2B90.Y Orphanet 144 TPD-Q2CRCY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q2CRCY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q2D6HT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q2D6HT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q2D6HT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q2EHQV Noonan syndrome LD2F.15 Orphanet 648 TPD-Q2EHQV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q2EHQV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q2EHQV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q2EHQV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q2EHQV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q2EHQV Lynch syndrome 2B90.Y Orphanet 144 TPD-Q2EHQV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q2EHQV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q2GYI6 Kennedy disease 8B61.4 Orphanet 481 TPD-Q2GYI6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q2GYI6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q2GYI6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q2HITS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q2JV75 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q2N9NM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q2N9NM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q2N9NM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q2N9NM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q2QY0Z Weaver syndrome LD2C Orphanet 3447 TPD-Q2T40C Weaver syndrome LD2C Orphanet 3447 TPD-Q2WEYB Noonan syndrome LD2F.15 Orphanet 648 TPD-Q2WEYB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q2WEYB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q2WEYB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q2WEYB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q2WEYB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q2WEYB Lynch syndrome 2B90.Y Orphanet 144 TPD-Q2WEYB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q2WEYB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q2WW0I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q31BBZ Kennedy disease 8B61.4 Orphanet 481 TPD-Q31BBZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q31BBZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q31BBZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q31DRN Familial melanoma QC61.Y Orphanet 618 TPD-Q31DRN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q347KO Kennedy disease 8B61.4 Orphanet 481 TPD-Q347KO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q347KO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q347KO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q34D7R Kennedy disease 8B61.4 Orphanet 481 TPD-Q34D7R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q34D7R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q34D7R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q36QLA Noonan syndrome LD2F.15 Orphanet 648 TPD-Q36QLA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Q36QLA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Q36QLA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q36QLA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q36QLA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Q36QLA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Q36QLA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Q36QLA Craniopharyngioma 2F9A Orphanet 54595 TPD-Q36QLA Cushing disease 5A70.0 Orphanet 96253 TPD-Q38KNG Kennedy disease 8B61.4 Orphanet 481 TPD-Q38KNG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q38KNG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q38KNG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q39VMT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q39VMT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q39VMT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q3A7IM Kennedy disease 8B61.4 Orphanet 481 TPD-Q3A7IM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3A7IM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3A7IM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3EI43 Kennedy disease 8B61.4 Orphanet 481 TPD-Q3EI43 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3EI43 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3EI43 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3IGVG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q3IGVG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q3IGVG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q3K2HN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q3K2HN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Q3O34H Kennedy disease 8B61.4 Orphanet 481 TPD-Q3O34H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3O34H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3O34H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3RWB8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q3RWB8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q3RWB8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q3RWB8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q3SMAE Kennedy disease 8B61.4 Orphanet 481 TPD-Q3SMAE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3SMAE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3SMAE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3UMON Kennedy disease 8B61.4 Orphanet 481 TPD-Q3UMON Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3UMON Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3UMON Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3UUOE Noonan syndrome LD2F.15 Orphanet 648 TPD-Q3UUOE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Q3UUOE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Q3UUOE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q3UUOE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q3UUOE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Q3UUOE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Q3UUOE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Q3UUOE Craniopharyngioma 2F9A Orphanet 54595 TPD-Q3UUOE Cushing disease 5A70.0 Orphanet 96253 TPD-Q3V1P9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-Q3W2UY Kennedy disease 8B61.4 Orphanet 481 TPD-Q3W2UY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q3W2UY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q3W2UY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q3WJSG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q3WJSG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q3Y6SG Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-Q3Y6SG Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-Q43X2N Familial melanoma QC61.Y Orphanet 618 TPD-Q43X2N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q46BLT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q46BLT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q46BLT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q486YQ Noonan syndrome LD2F.15 Orphanet 648 TPD-Q486YQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q486YQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q486YQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q486YQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q486YQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q486YQ Lynch syndrome 2B90.Y Orphanet 144 TPD-Q486YQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q486YQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q48SVK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q48SVK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q48SVK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q49AM4 Kennedy disease 8B61.4 Orphanet 481 TPD-Q49AM4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q49AM4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q49AM4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q49GQ4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q49GQ4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q49GQ4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q49XZM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Q4A25Q Noonan syndrome LD2F.15 Orphanet 648 TPD-Q4A25Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q4A25Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q4A25Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q4A25Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q4A25Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q4A25Q Lynch syndrome 2B90.Y Orphanet 144 TPD-Q4A25Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q4A25Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q4F021 Kennedy disease 8B61.4 Orphanet 481 TPD-Q4F021 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q4F021 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q4F021 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q4JKVL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q4JKVL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q4JKVL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q4VEM7 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q4VEM7 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Q4XXD1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q4XXD1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q4XXD1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q4Y4TO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q4Y4TO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q4Y4TO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q50N2Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q50N2Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q50N2Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q50N2Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q51CKH Kennedy disease 8B61.4 Orphanet 481 TPD-Q51CKH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q51CKH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q51CKH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q55LV5 Kennedy disease 8B61.4 Orphanet 481 TPD-Q55LV5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q55LV5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q55LV5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q561ND Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q561ND Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q561ND Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q58NAG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q58NAG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q58NAG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q5AEQV Kennedy disease 8B61.4 Orphanet 481 TPD-Q5AEQV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q5AEQV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q5AEQV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q5E08L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q5E08L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q5E08L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q5E1Z1 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q5E1Z1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q5E1Z1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q5E1Z1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q5E1Z1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q5E1Z1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q5E1Z1 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q5E1Z1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q5E1Z1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q5E2RA Noonan syndrome LD2F.15 Orphanet 648 TPD-Q5E2RA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q5E2RA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q5E2RA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q5E2RA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q5E2RA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q5E2RA Lynch syndrome 2B90.Y Orphanet 144 TPD-Q5E2RA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q5E2RA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q5I6GZ Noonan syndrome LD2F.15 Orphanet 648 TPD-Q5I6GZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q5I6GZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q5I6GZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q5I6GZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q5I6GZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q5I6GZ Lynch syndrome 2B90.Y Orphanet 144 TPD-Q5I6GZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q5I6GZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q5I9GE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q5I9GE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q5I9GE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q5I9GE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q5I9XL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q5I9XL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q5IORA Familial melanoma QC61.Y Orphanet 618 TPD-Q5IORA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q5ISRB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q5ISRB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q5ISRB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q5PJ9S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q5PJ9S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q5PJ9S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q5PJ9S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q5QSKS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q5QSKS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Q5QSKS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q5TQ2L Kennedy disease 8B61.4 Orphanet 481 TPD-Q5TQ2L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q5TQ2L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q5TQ2L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q5U83R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q5U83R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q5U83R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q5U83R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q5UUKR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q5UUKR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q5UUKR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q5YGZ8 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q5YGZ8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q5YGZ8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q5YGZ8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q5YGZ8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q5YGZ8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q5YGZ8 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q5YGZ8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q5YGZ8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q615M2 Kennedy disease 8B61.4 Orphanet 481 TPD-Q615M2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q615M2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q615M2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q62XLU Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-Q63BWS Noonan syndrome LD2F.15 Orphanet 648 TPD-Q63BWS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q63BWS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q63BWS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q63BWS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q63BWS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q63BWS Lynch syndrome 2B90.Y Orphanet 144 TPD-Q63BWS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q63BWS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q6CUSH Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Q6EDCK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Q6ITDE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Q6ITDE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Q6ITDE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Q6ITDE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Q6ITDE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Q6ITDE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Q6ITDE Semantic dementia 6D83 Orphanet 100069 TPD-Q6ITDE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Q6IZG9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Q6LEZ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q6LEZ6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q6LEZ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q6LEZ6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q6LEZ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q6LEZ6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q6LEZ6 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q6LEZ6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q6LEZ6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q6NF0F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q6Q90O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q6RAZX Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-Q6RAZX Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-Q6RIVZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q6RIVZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q6RIVZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q6RIVZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q6TO58 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q6TO58 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q6W0Q2 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q6W0Q2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q6W0Q2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q6W0Q2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q6W0Q2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q6W0Q2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q6W0Q2 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q6W0Q2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q6W0Q2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q6YW64 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q6YW64 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q6YW64 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q7006C CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Q706A1 Kennedy disease 8B61.4 Orphanet 481 TPD-Q706A1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q706A1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q706A1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q716HS Noonan syndrome LD2F.15 Orphanet 648 TPD-Q716HS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q716HS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q716HS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q716HS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q716HS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q716HS Lynch syndrome 2B90.Y Orphanet 144 TPD-Q716HS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q716HS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q71784 Kennedy disease 8B61.4 Orphanet 481 TPD-Q71784 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q71784 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q71784 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q71E9X Kennedy disease 8B61.4 Orphanet 481 TPD-Q71E9X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q71E9X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q71E9X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q72RME Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q72RME Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q72RME B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q72RME B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q74KHE Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-Q77D0T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q77D0T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q77D0T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q78N47 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-Q7C38C Noonan syndrome LD2F.15 Orphanet 648 TPD-Q7C38C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q7C38C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q7C38C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q7C38C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q7C38C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q7C38C Lynch syndrome 2B90.Y Orphanet 144 TPD-Q7C38C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q7C38C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q7C68U Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q7C68U Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q7C68U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q7C68U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q7D0PG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q7D0PG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q7DT7S Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Q7GBDK Familial melanoma QC61.Y Orphanet 618 TPD-Q7GBDK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q7GVGS Kennedy disease 8B61.4 Orphanet 481 TPD-Q7GVGS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q7GVGS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q7GVGS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q7H3OL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q7H3OL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q7H3OL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q7H3OL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q7HW45 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q7HW45 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q7HW45 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q7HW45 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q7MMVY Noonan syndrome LD2F.15 Orphanet 648 TPD-Q7MMVY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q7MMVY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q7MMVY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q7MMVY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q7MMVY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q7MMVY Lynch syndrome 2B90.Y Orphanet 144 TPD-Q7MMVY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q7MMVY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q7Q2GY Kennedy disease 8B61.4 Orphanet 481 TPD-Q7Q2GY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q7Q2GY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q7Q2GY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q7SAM2 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q7SAM2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q7SAM2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q7SAM2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q7SAM2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q7SAM2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q7SAM2 Lynch syndrome 2B90.Y Orphanet 144 TPD-Q7SAM2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q7SAM2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q7U5OQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q7U5OQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q7V4ZJ Burkitt lymphoma XH4KA9 Orphanet 543 TPD-Q7V4ZJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Q7V4ZJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Q7XYKO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q7XYKO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q805SQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Q8615W Kennedy disease 8B61.4 Orphanet 481 TPD-Q8615W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q8615W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q8615W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q87AQ5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Q89JVV Noonan syndrome LD2F.15 Orphanet 648 TPD-Q89JVV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Q89JVV Metachondromatosis LD24.2Y Orphanet 2499 TPD-Q89JVV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q8AYRP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q8C6B2 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-Q8C6B2 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-Q8C6B2 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-Q8C6B2 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-Q8C6B2 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-Q8C6B2 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-Q8C6B2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q8C6B2 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-Q8C6B2 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Q8D3H0 Kennedy disease 8B61.4 Orphanet 481 TPD-Q8D3H0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q8D3H0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q8D3H0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q8DMB0 Kennedy disease 8B61.4 Orphanet 481 TPD-Q8DMB0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q8DMB0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q8DMB0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q8GTN4 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q8GTN4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Q8GTN4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Q8GTN4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q8GTN4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q8GTN4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Q8GTN4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Q8GTN4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Q8GTN4 Craniopharyngioma 2F9A Orphanet 54595 TPD-Q8GTN4 Cushing disease 5A70.0 Orphanet 96253 TPD-Q8JZ8D Kennedy disease 8B61.4 Orphanet 481 TPD-Q8JZ8D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q8JZ8D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q8JZ8D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q8K4CO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q8K4CO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q8K4CO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q8MORU Noonan syndrome LD2F.15 Orphanet 648 TPD-Q8MORU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q8MORU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q8MORU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q8MORU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q8MORU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q8MORU Lynch syndrome 2B90.Y Orphanet 144 TPD-Q8MORU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q8MORU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q8PQSH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q8PQSH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q8PQSH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q8PQSH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q8ZXF2 Kennedy disease 8B61.4 Orphanet 481 TPD-Q8ZXF2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q8ZXF2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q8ZXF2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q91SQ5 Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-Q961B5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q97FQE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q97FQE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Q98UXS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Q98UXS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Q98UXS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Q9BVRX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Q9BVRX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Q9BVRX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q9BVRX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Q9EAGB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q9EAGB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Q9GJID Familial melanoma QC61.Y Orphanet 618 TPD-Q9GJID Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q9GK9E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Q9GK9E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Q9HQ0P Noonan syndrome LD2F.15 Orphanet 648 TPD-Q9HQ0P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Q9HQ0P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Q9HQ0P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Q9HQ0P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Q9HQ0P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Q9HQ0P Lynch syndrome 2B90.Y Orphanet 144 TPD-Q9HQ0P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Q9HQ0P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Q9MPSK Familial melanoma QC61.Y Orphanet 618 TPD-Q9MPSK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Q9OMXA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Q9QKYN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Q9QO7Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Q9SC7B Kennedy disease 8B61.4 Orphanet 481 TPD-Q9SC7B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Q9SC7B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Q9SC7B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Q9VMEO Noonan syndrome LD2F.15 Orphanet 648 TPD-Q9VMEO Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Q9XNBX Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Q9XNBX Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Q9XNBX Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Q9XNBX Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Q9XNBX Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Q9XNBX Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Q9XNBX Semantic dementia 6D83 Orphanet 100069 TPD-Q9XNBX Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Q9YCT3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Q9YCT3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Q9YH11 Noonan syndrome LD2F.15 Orphanet 648 TPD-Q9YH11 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-QA11OR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QA71G9 Kennedy disease 8B61.4 Orphanet 481 TPD-QA71G9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QA71G9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QA71G9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QA8J59 Familial melanoma QC61.Y Orphanet 618 TPD-QA8J59 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QAC1BF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QAC1BF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QAC1BF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QALAZT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QAOVAM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QAOVAM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QAOVAM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QAUVCU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QB16A8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QB3VVL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QB3VVL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QB3VVL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QB57PD Kennedy disease 8B61.4 Orphanet 481 TPD-QB57PD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QB57PD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QB57PD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QB5KEI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QB5KEI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QB6T2L Kennedy disease 8B61.4 Orphanet 481 TPD-QB6T2L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QB6T2L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QB6T2L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QB8020 Noonan syndrome LD2F.15 Orphanet 648 TPD-QB8020 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QB8020 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QB8020 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QB8020 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QB8020 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QB8020 Lynch syndrome 2B90.Y Orphanet 144 TPD-QB8020 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QB8020 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QB9UWQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QB9UWQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QB9UWQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QBBS0K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QBBS0K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QBC6GI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QBC6GI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QBC6GI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QBCL18 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QBG5K9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QBG5K9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QBK74V Noonan syndrome LD2F.15 Orphanet 648 TPD-QBK74V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QBK74V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QBK74V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QBK74V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QBK74V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QBK74V Lynch syndrome 2B90.Y Orphanet 144 TPD-QBK74V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QBK74V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QBM23F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QBM23F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QBM23F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QBM23F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QBS0OS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QBSANH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QBTQSC Kennedy disease 8B61.4 Orphanet 481 TPD-QBTQSC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QBTQSC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QBTQSC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QBVI1I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QBZ51Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QBZ51Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QBZ51Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QC0W6C CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QC2F5S Noonan syndrome LD2F.15 Orphanet 648 TPD-QC2F5S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QC2F5S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QC2F5S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QC2F5S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QC2F5S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QC2F5S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QC2F5S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QC2F5S Craniopharyngioma 2F9A Orphanet 54595 TPD-QC2F5S Cushing disease 5A70.0 Orphanet 96253 TPD-QC7H9O Noonan syndrome LD2F.15 Orphanet 648 TPD-QC7H9O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QC7H9O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QC7H9O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QC7H9O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QC7H9O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QC7H9O Lynch syndrome 2B90.Y Orphanet 144 TPD-QC7H9O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QC7H9O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QC8IL9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QCCG8D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QCCG8D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QCCGIP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QCF1E1 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-QCF1E1 CINCA syndrome 4A60.1 Orphanet 1451 TPD-QCF1E1 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-QCH1IO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QCH1IO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QCH1IO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QCH1IO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QCI18W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QCM65L Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QCOFHR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QCSWGB Noonan syndrome LD2F.15 Orphanet 648 TPD-QCSWGB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QCSWGB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QCSWGB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QCSWGB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QCSWGB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QCSWGB Lynch syndrome 2B90.Y Orphanet 144 TPD-QCSWGB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QCSWGB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QCTHRY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QCVCP1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QCVCP1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QCVCP1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QCWX0T Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QD0CIJ Familial melanoma QC61.Y Orphanet 618 TPD-QD0CIJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QD1L2G Noonan syndrome LD2F.15 Orphanet 648 TPD-QD1L2G Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QD1L2G Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QD1L2G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QD1L2G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QD1L2G Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QD1L2G Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QD1L2G Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QD1L2G Craniopharyngioma 2F9A Orphanet 54595 TPD-QD1L2G Cushing disease 5A70.0 Orphanet 96253 TPD-QD2NEW Kennedy disease 8B61.4 Orphanet 481 TPD-QD2NEW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QD2NEW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QD2NEW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QD40BT Noonan syndrome LD2F.15 Orphanet 648 TPD-QD40BT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QD40BT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QD40BT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QD40BT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QD40BT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QD40BT Lynch syndrome 2B90.Y Orphanet 144 TPD-QD40BT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QD40BT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QD82Q1 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-QD82Q1 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-QD82Q1 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QD82Q1 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-QDAMZJ Noonan syndrome LD2F.15 Orphanet 648 TPD-QDAMZJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QDAMZJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QDAMZJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QDAMZJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QDAMZJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QDAMZJ Lynch syndrome 2B90.Y Orphanet 144 TPD-QDAMZJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QDAMZJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QDARIZ Noonan syndrome LD2F.15 Orphanet 648 TPD-QDARIZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QDARIZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QDARIZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QDARIZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QDARIZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QDARIZ Lynch syndrome 2B90.Y Orphanet 144 TPD-QDARIZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QDARIZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QDD7TM Kennedy disease 8B61.4 Orphanet 481 TPD-QDD7TM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QDD7TM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QDD7TM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QDNC1Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QDOTVU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QDP8JY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QDP8JY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QDP8JY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QDPBXX Noonan syndrome LD2F.15 Orphanet 648 TPD-QDPBXX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QDPBXX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QDPBXX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QDPBXX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QDPBXX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QDPBXX Lynch syndrome 2B90.Y Orphanet 144 TPD-QDPBXX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QDPBXX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QDPD14 Familial melanoma QC61.Y Orphanet 618 TPD-QDPV3V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QDPV3V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QDPV3V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QDPV3V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QDRLHQ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-QDRLHQ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-QDRLHQ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-QDRLHQ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-QDRLHQ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-QDRLHQ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-QDRLHQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QDRLHQ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-QDRLHQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-QDSTI3 Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-QDSUIS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QDSUIS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QDTEI4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QDTEI4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QDTEI4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QDWTHY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QDWTHY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QDXBTT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QDXBTT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QDZKW8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QDZKW8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QE25XU Noonan syndrome LD2F.15 Orphanet 648 TPD-QE25XU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QE25XU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QE25XU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QE25XU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QE25XU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QE25XU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QE25XU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QE25XU Craniopharyngioma 2F9A Orphanet 54595 TPD-QE25XU Cushing disease 5A70.0 Orphanet 96253 TPD-QE7ZW2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QE7ZW2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QED0EQ Noonan syndrome LD2F.15 Orphanet 648 TPD-QED0EQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QED0EQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QED0EQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QED0EQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QED0EQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QED0EQ Lynch syndrome 2B90.Y Orphanet 144 TPD-QED0EQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QED0EQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QEDN3X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QEDN3X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QEDN3X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QEDN3X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QEF47J Kennedy disease 8B61.4 Orphanet 481 TPD-QEF47J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QEF47J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QEF47J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QEK9DT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QEK9DT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QEK9DT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QENPEC Kennedy disease 8B61.4 Orphanet 481 TPD-QENPEC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QENPEC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QENPEC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QEPHDY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QERW6Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QERW6Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QERW6Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QERW6Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QERXOZ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QEW3C7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QEW3C7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QEW3C7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QEZ671 Noonan syndrome LD2F.15 Orphanet 648 TPD-QEZ671 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QEZ671 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QEZ671 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QEZ671 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QEZ671 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QEZ671 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QEZ671 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QEZ671 Craniopharyngioma 2F9A Orphanet 54595 TPD-QEZ671 Cushing disease 5A70.0 Orphanet 96253 TPD-QEZ7B5 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-QEZ7B5 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-QF5LF4 Kennedy disease 8B61.4 Orphanet 481 TPD-QF5LF4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QF5LF4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QF5LF4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QF5QEG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QFA2CM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QFAUIU Kennedy disease 8B61.4 Orphanet 481 TPD-QFAUIU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QFAUIU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QFAUIU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QFB9I9 Noonan syndrome LD2F.15 Orphanet 648 TPD-QFB9I9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QFB9I9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QFB9I9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QFB9I9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QFB9I9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QFB9I9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QFB9I9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QFB9I9 Craniopharyngioma 2F9A Orphanet 54595 TPD-QFB9I9 Cushing disease 5A70.0 Orphanet 96253 TPD-QFDVR9 Kennedy disease 8B61.4 Orphanet 481 TPD-QFDVR9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QFDVR9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QFDVR9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QFK67L X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QFK67L Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QFKT6Z Noonan syndrome LD2F.15 Orphanet 648 TPD-QFKT6Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QFKT6Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QFKT6Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QFKT6Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QFKT6Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QFKT6Z Lynch syndrome 2B90.Y Orphanet 144 TPD-QFKT6Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QFKT6Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QFLFZ8 Noonan syndrome LD2F.15 Orphanet 648 TPD-QFLFZ8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QFLFZ8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QFLFZ8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QFLFZ8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QFLFZ8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QFLFZ8 Lynch syndrome 2B90.Y Orphanet 144 TPD-QFLFZ8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QFLFZ8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QFNZ5S Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-QFNZ5S 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-QFNZ5S 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-QFOIZZ Noonan syndrome LD2F.15 Orphanet 648 TPD-QFOIZZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QFOIZZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QFOIZZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QFOIZZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QFOIZZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QFOIZZ Lynch syndrome 2B90.Y Orphanet 144 TPD-QFOIZZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QFOIZZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QFQGEU Familial melanoma QC61.Y Orphanet 618 TPD-QFQGEU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QFQV07 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QFVZJ0 Hirschsprung disease LB16.1 Orphanet 388 TPD-QFVZJ0 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-QFYJGU Noonan syndrome LD2F.15 Orphanet 648 TPD-QFYJGU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QFYJGU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QFYJGU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QFYJGU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QFYJGU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QFYJGU Lynch syndrome 2B90.Y Orphanet 144 TPD-QFYJGU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QFYJGU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QFZHMZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QG37PF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QG37PF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QG5IBG Noonan syndrome LD2F.15 Orphanet 648 TPD-QG5IBG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QG5IBG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QG5IBG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QG5IBG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QG5IBG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QG5IBG Lynch syndrome 2B90.Y Orphanet 144 TPD-QG5IBG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QG5IBG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QGDG39 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QGDG39 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QGEUO4 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-QGEUO4 MODY 5A13.6 Orphanet 552 TPD-QGEUO4 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-QGNFP9 Kennedy disease 8B61.4 Orphanet 481 TPD-QGNFP9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QGNFP9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QGNFP9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QGNLF1 Noonan syndrome LD2F.15 Orphanet 648 TPD-QGNLF1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QGNLF1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QGNLF1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QGNLF1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QGNLF1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QGNLF1 Lynch syndrome 2B90.Y Orphanet 144 TPD-QGNLF1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QGNLF1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QGTHJR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QGTHJR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QGUS9Z Noonan syndrome LD2F.15 Orphanet 648 TPD-QGUS9Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QGUS9Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QGUS9Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QGUS9Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QGUS9Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QGUS9Z Lynch syndrome 2B90.Y Orphanet 144 TPD-QGUS9Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QGUS9Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QGWJ3P Noonan syndrome LD2F.15 Orphanet 648 TPD-QGWJ3P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QGWJ3P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QGWJ3P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QGWJ3P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QGWJ3P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QGWJ3P Lynch syndrome 2B90.Y Orphanet 144 TPD-QGWJ3P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QGWJ3P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QH0VM3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-QH8LVQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QHAE7Z Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-QHAE7Z Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-QHAE7Z Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-QHD3L1 Noonan syndrome LD2F.15 Orphanet 648 TPD-QHD3L1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QHD3L1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QHD3L1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QHD3L1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QHD3L1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QHD3L1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QHD3L1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QHD3L1 Craniopharyngioma 2F9A Orphanet 54595 TPD-QHD3L1 Cushing disease 5A70.0 Orphanet 96253 TPD-QHDMP2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QHMLT7 Kennedy disease 8B61.4 Orphanet 481 TPD-QHMLT7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QHMLT7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QHMLT7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QHPAMW Noonan syndrome LD2F.15 Orphanet 648 TPD-QHPAMW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QHPAMW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QHPAMW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QHPAMW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QHPAMW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QHPAMW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QHPAMW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QHPAMW Craniopharyngioma 2F9A Orphanet 54595 TPD-QHPAMW Cushing disease 5A70.0 Orphanet 96253 TPD-QHPAMW Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-QHS3GN Kennedy disease 8B61.4 Orphanet 481 TPD-QHS3GN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QHS3GN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QHS3GN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QHSEN1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QHSEN1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QHSEN1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QHSEN1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QHWSEE Noonan syndrome LD2F.15 Orphanet 648 TPD-QHWSEE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QHWSEE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QHWSEE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QHWSEE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QHWSEE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QHWSEE Lynch syndrome 2B90.Y Orphanet 144 TPD-QHWSEE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QHWSEE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QHYM7Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QHYM7Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QHYM7Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QHYM7Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QI1202 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QI1202 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QI1202 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QI1UTI Noonan syndrome LD2F.15 Orphanet 648 TPD-QI1UTI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QI1UTI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QI1UTI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QI1UTI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QI1UTI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QI1UTI Lynch syndrome 2B90.Y Orphanet 144 TPD-QI1UTI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QI1UTI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QI28QF Noonan syndrome LD2F.15 Orphanet 648 TPD-QI28QF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QI28QF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QI28QF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QI28QF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QI28QF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QI28QF Lynch syndrome 2B90.Y Orphanet 144 TPD-QI28QF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QI28QF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QI2PI3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QI30KD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QIATLE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QIATLE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QIATLE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QIBXG3 Noonan syndrome LD2F.15 Orphanet 648 TPD-QIBXG3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QIBXG3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QIBXG3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QIBXG3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QIBXG3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QIBXG3 Lynch syndrome 2B90.Y Orphanet 144 TPD-QIBXG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QIBXG3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QIEZ9M Kennedy disease 8B61.4 Orphanet 481 TPD-QIEZ9M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QIEZ9M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QIEZ9M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QIF5Y1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QIFM3S Kennedy disease 8B61.4 Orphanet 481 TPD-QIFM3S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QIFM3S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QIFM3S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QIHRYY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QIID6O Noonan syndrome LD2F.15 Orphanet 648 TPD-QIID6O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QIID6O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QIID6O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QIID6O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QIID6O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QIID6O Lynch syndrome 2B90.Y Orphanet 144 TPD-QIID6O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QIID6O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QIM3T2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QIO0EI Noonan syndrome LD2F.15 Orphanet 648 TPD-QIO0EI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QIO0EI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QIO0EI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QIO0EI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QIO0EI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QIO0EI Lynch syndrome 2B90.Y Orphanet 144 TPD-QIO0EI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QIO0EI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QIOPLM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QIOPLM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QIOPLM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QIS1IV Kennedy disease 8B61.4 Orphanet 481 TPD-QIS1IV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QIS1IV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QIS1IV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QIVAFO Kennedy disease 8B61.4 Orphanet 481 TPD-QIVAFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QIVAFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QIVAFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QIX40W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QIX40W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QIXQSR Noonan syndrome LD2F.15 Orphanet 648 TPD-QIXQSR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QIXQSR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QIXQSR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QIXQSR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QIXQSR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QIXQSR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QIXQSR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QIXQSR Craniopharyngioma 2F9A Orphanet 54595 TPD-QIXQSR Cushing disease 5A70.0 Orphanet 96253 TPD-QIZTRK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QJ1CI8 Familial melanoma QC61.Y Orphanet 618 TPD-QJ1CI8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QJ2P6G Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-QJ51VA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QJ55WR Burkitt lymphoma XH4KA9 Orphanet 543 TPD-QJ55WR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-QJ7L8K Kennedy disease 8B61.4 Orphanet 481 TPD-QJ7L8K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QJ7L8K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QJ7L8K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QJ9AL4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QJ9AL4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QJ9AL4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QJ9NK1 Kennedy disease 8B61.4 Orphanet 481 TPD-QJ9NK1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QJ9NK1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QJ9NK1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QJDVZ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-QJDVZ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QJDVZ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QJDVZ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QJDVZ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QJDVZ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QJDVZ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-QJDVZ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QJDVZ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QJHUV8 Kennedy disease 8B61.4 Orphanet 481 TPD-QJHUV8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QJHUV8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QJHUV8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QJNXZU Kennedy disease 8B61.4 Orphanet 481 TPD-QJNXZU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QJNXZU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QJNXZU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QJOKDP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QJOTQA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QJOTQA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QJOTQA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QJTDSP Kennedy disease 8B61.4 Orphanet 481 TPD-QJTDSP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QJTDSP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QJTDSP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QJX8CP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QJX8CP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QK3Y9S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QK8P02 Noonan syndrome LD2F.15 Orphanet 648 TPD-QK8P02 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QK8P02 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QK8P02 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QK8P02 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QK8P02 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QK8P02 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QK8P02 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QK8P02 Craniopharyngioma 2F9A Orphanet 54595 TPD-QK8P02 Cushing disease 5A70.0 Orphanet 96253 TPD-QK8QWO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QK8QWO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QK8TU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-QK8TU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QK8TU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QK8TU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QK8TU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QK8TU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QK8TU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-QK8TU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QK8TU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QKBHW5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QKBHW5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QKBHW5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QKBHW5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QKBHW5 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-QKBHW5 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-QKBHW5 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-QKBHW5 Aromatase excess syndrome 5A92 Orphanet 178345 TPD-QKBHW5 Aromatase deficiency 5A9Y Orphanet 91 TPD-QKBHW5 Whipple disease DA96.0Y Orphanet 3452 TPD-QKCJ16 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QKDTIA Kennedy disease 8B61.4 Orphanet 481 TPD-QKDTIA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QKDTIA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QKDTIA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QKHFH9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QKHFH9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QKHFH9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QKJFU1 Kennedy disease 8B61.4 Orphanet 481 TPD-QKJFU1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QKJFU1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QKJFU1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QKLET1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QKLET1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QKNBEK Kennedy disease 8B61.4 Orphanet 481 TPD-QKNBEK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QKNBEK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QKNBEK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QKRD6G Familial melanoma QC61.Y Orphanet 618 TPD-QKRD6G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QKTU5M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QKTU5M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QKTU5M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QKTU5M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QKWIYL Noonan syndrome LD2F.15 Orphanet 648 TPD-QKWIYL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QKWIYL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QKWIYL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QKWIYL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QKWIYL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QKWIYL Lynch syndrome 2B90.Y Orphanet 144 TPD-QKWIYL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QKWIYL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QL7V2P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QL9RD8 Noonan syndrome LD2F.15 Orphanet 648 TPD-QL9RD8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QL9RD8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QL9RD8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QL9RD8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QL9RD8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QL9RD8 Lynch syndrome 2B90.Y Orphanet 144 TPD-QL9RD8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QL9RD8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QLCMM7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QLDN6G Kennedy disease 8B61.4 Orphanet 481 TPD-QLDN6G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QLDN6G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QLDN6G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QLEPDU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QLH6NC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QLH6NC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QLH6NC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QLIOBN Noonan syndrome LD2F.15 Orphanet 648 TPD-QLIOBN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QLIOBN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QLIOBN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLIOBN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLIOBN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QLIOBN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QLIOBN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QLIOBN Craniopharyngioma 2F9A Orphanet 54595 TPD-QLIOBN Cushing disease 5A70.0 Orphanet 96253 TPD-QLJKDZ Noonan syndrome LD2F.15 Orphanet 648 TPD-QLJKDZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QLJKDZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QLJKDZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLJKDZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLJKDZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QLJKDZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QLJKDZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QLJKDZ Craniopharyngioma 2F9A Orphanet 54595 TPD-QLJKDZ Cushing disease 5A70.0 Orphanet 96253 TPD-QLKGGI Noonan syndrome LD2F.15 Orphanet 648 TPD-QLKGGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QLKGGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLKGGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QLKGGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLKGGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QLKGGI Lynch syndrome 2B90.Y Orphanet 144 TPD-QLKGGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QLKGGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QLMCOB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QLMCOB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QLMCOB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QLNKEH Noonan syndrome LD2F.15 Orphanet 648 TPD-QLNKEH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QLNKEH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLNKEH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QLNKEH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLNKEH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QLNKEH Lynch syndrome 2B90.Y Orphanet 144 TPD-QLNKEH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QLNKEH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QLS0U8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QLS0U8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QLS0U8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QLS34J Noonan syndrome LD2F.15 Orphanet 648 TPD-QLS34J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QLS34J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QLS34J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLS34J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLS34J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QLS34J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QLS34J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QLS34J Craniopharyngioma 2F9A Orphanet 54595 TPD-QLS34J Cushing disease 5A70.0 Orphanet 96253 TPD-QLU5GG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QLU5GG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QLU5GG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QLU5GG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QLUK3D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QLUK3D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QLW0LW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QLW0LW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QLW0LW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QLWYI7 Noonan syndrome LD2F.15 Orphanet 648 TPD-QLWYI7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QLWYI7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QLWYI7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLWYI7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLWYI7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QLWYI7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QLWYI7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QLWYI7 Craniopharyngioma 2F9A Orphanet 54595 TPD-QLWYI7 Cushing disease 5A70.0 Orphanet 96253 TPD-QLXZOF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QLYISC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QLYISC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QLYISC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QLYX7R Noonan syndrome LD2F.15 Orphanet 648 TPD-QLYX7R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QLYX7R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QLYX7R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QLYX7R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QLYX7R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QLYX7R Lynch syndrome 2B90.Y Orphanet 144 TPD-QLYX7R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QLYX7R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM0YY7 Noonan syndrome LD2F.15 Orphanet 648 TPD-QM0YY7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QM0YY7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM0YY7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QM0YY7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM0YY7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QM0YY7 Lynch syndrome 2B90.Y Orphanet 144 TPD-QM0YY7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QM0YY7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM115D Noonan syndrome LD2F.15 Orphanet 648 TPD-QM115D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QM115D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM115D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QM115D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM115D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QM115D Lynch syndrome 2B90.Y Orphanet 144 TPD-QM115D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QM115D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM2C7C Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-QM2C7C Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-QM2KEG Kennedy disease 8B61.4 Orphanet 481 TPD-QM2KEG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QM2KEG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QM2KEG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QM2QCU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QM2QCU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QM36HU Noonan syndrome LD2F.15 Orphanet 648 TPD-QM36HU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QM36HU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM36HU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QM36HU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM36HU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QM36HU Lynch syndrome 2B90.Y Orphanet 144 TPD-QM36HU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QM36HU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM4H3Y Noonan syndrome LD2F.15 Orphanet 648 TPD-QM4H3Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QM4H3Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QM4H3Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM4H3Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM4H3Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QM4H3Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QM4H3Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QM4H3Y Craniopharyngioma 2F9A Orphanet 54595 TPD-QM4H3Y Cushing disease 5A70.0 Orphanet 96253 TPD-QM594M Noonan syndrome LD2F.15 Orphanet 648 TPD-QM594M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QM594M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QM594M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM594M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM594M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QM594M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QM594M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QM594M Craniopharyngioma 2F9A Orphanet 54595 TPD-QM594M Cushing disease 5A70.0 Orphanet 96253 TPD-QM5UZP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QM5UZP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QM5UZP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QM5UZP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QM7QN8 Noonan syndrome LD2F.15 Orphanet 648 TPD-QM7QN8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QM7QN8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM7QN8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QM7QN8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM7QN8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QM7QN8 Lynch syndrome 2B90.Y Orphanet 144 TPD-QM7QN8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QM7QN8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM8JGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-QM8JGZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QM8JGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QM8JGZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QM8JGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QM8JGZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QM8JGZ Lynch syndrome 2B90.Y Orphanet 144 TPD-QM8JGZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QM8JGZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QM9IFR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QM9IFR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QM9IFR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QM9IFR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QMBA78 Noonan syndrome LD2F.15 Orphanet 648 TPD-QMBA78 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QMBA78 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QMBA78 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QMBA78 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QMBA78 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QMBA78 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QMBA78 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QMBA78 Craniopharyngioma 2F9A Orphanet 54595 TPD-QMBA78 Cushing disease 5A70.0 Orphanet 96253 TPD-QMG05B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QMG05B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QMH392 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QMIESH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QMIESH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QMIESH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QMJR2N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QMJR2N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QMK5C3 Noonan syndrome LD2F.15 Orphanet 648 TPD-QMK5C3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QMK5C3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QMK5C3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QMK5C3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QMK5C3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QMK5C3 Lynch syndrome 2B90.Y Orphanet 144 TPD-QMK5C3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QMK5C3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QMSGH2 Noonan syndrome LD2F.15 Orphanet 648 TPD-QMSGH2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QMSGH2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QMSGH2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QMSGH2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QMSGH2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QMSGH2 Lynch syndrome 2B90.Y Orphanet 144 TPD-QMSGH2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QMSGH2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QMVXUS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QMVXUS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QMWIG3 Noonan syndrome LD2F.15 Orphanet 648 TPD-QMWIG3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QMWIG3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QMWIG3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QMWIG3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QMWIG3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QMWIG3 Lynch syndrome 2B90.Y Orphanet 144 TPD-QMWIG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QMWIG3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QMZ4U3 Noonan syndrome LD2F.15 Orphanet 648 TPD-QMZ4U3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QMZ4U3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QMZ4U3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QMZ4U3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QMZ4U3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QMZ4U3 Lynch syndrome 2B90.Y Orphanet 144 TPD-QMZ4U3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QMZ4U3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QMZD2K Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QN5HG0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QN5HG0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QN5HG0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QN5LYR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QN5LYR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QN5LYR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QN60PZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QNCLTC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QNCLTC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QNCLTC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QNCLTC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QNDVOI Noonan syndrome LD2F.15 Orphanet 648 TPD-QNDVOI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QNDVOI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QNDVOI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QNDVOI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QNDVOI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QNDVOI Lynch syndrome 2B90.Y Orphanet 144 TPD-QNDVOI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QNDVOI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QNF05E Noonan syndrome LD2F.15 Orphanet 648 TPD-QNF05E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QNF05E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QNF05E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QNF05E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QNF05E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QNF05E Lynch syndrome 2B90.Y Orphanet 144 TPD-QNF05E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QNF05E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QNIPCL Kennedy disease 8B61.4 Orphanet 481 TPD-QNIPCL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QNIPCL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QNIPCL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QNL7O9 Kennedy disease 8B61.4 Orphanet 481 TPD-QNL7O9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QNL7O9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QNL7O9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QNL7VK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QNL7VK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QNL7VK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QNNVXK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QNPMWB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QNPMWB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QNQBB0 Noonan syndrome LD2F.15 Orphanet 648 TPD-QNQBB0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QNQBB0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QNQBB0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QNQBB0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QNQBB0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QNQBB0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QNQBB0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QNQBB0 Craniopharyngioma 2F9A Orphanet 54595 TPD-QNQBB0 Cushing disease 5A70.0 Orphanet 96253 TPD-QNQSMN Hirschsprung disease LB16.1 Orphanet 388 TPD-QNQSMN Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-QNTYDH Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-QNTYDH MODY 5A13.6 Orphanet 552 TPD-QNTYDH Williams syndrome LD44.70 Orphanet 904 TPD-QNWTZA Kennedy disease 8B61.4 Orphanet 481 TPD-QNWTZA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QNWTZA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QNWTZA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QNXXPJ Kennedy disease 8B61.4 Orphanet 481 TPD-QNXXPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QNXXPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QNXXPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QNY0UN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QNY0UN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QNY0UN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QO2RJ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-QO2RJ0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QO2RJ0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QO2RJ0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QO2RJ0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QO2RJ0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QO2RJ0 Lynch syndrome 2B90.Y Orphanet 144 TPD-QO2RJ0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QO2RJ0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QO3U4Z Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-QO4RLA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QO4RLA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QO4RLA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QO4RLA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QO76FA Noonan syndrome LD2F.15 Orphanet 648 TPD-QO76FA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QO76FA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QO76FA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QO76FA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QO76FA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QO76FA Lynch syndrome 2B90.Y Orphanet 144 TPD-QO76FA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QO76FA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QO7KY5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QO7KY5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QO9L9C Noonan syndrome LD2F.15 Orphanet 648 TPD-QO9L9C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QO9L9C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QO9L9C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QO9L9C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QO9L9C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QO9L9C Lynch syndrome 2B90.Y Orphanet 144 TPD-QO9L9C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QO9L9C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QOA2MQ Kennedy disease 8B61.4 Orphanet 481 TPD-QOA2MQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QOA2MQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QOA2MQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QOBV2D Noonan syndrome LD2F.15 Orphanet 648 TPD-QOBV2D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QOBV2D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QOBV2D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QOBV2D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QOBV2D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QOBV2D Lynch syndrome 2B90.Y Orphanet 144 TPD-QOBV2D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QOBV2D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QODGV8 Weaver syndrome LD2C Orphanet 3447 TPD-QOEKZI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QOEKZI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QOEKZI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QOG29J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QOG29J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QOG29J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QOGI7K Noonan syndrome LD2F.15 Orphanet 648 TPD-QOGI7K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QOGI7K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QOGI7K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QOGI7K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QOGI7K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QOGI7K Lynch syndrome 2B90.Y Orphanet 144 TPD-QOGI7K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QOGI7K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QOGLOA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QOGLOA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QOGLOA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QOLYNJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QONBJ5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QONBJ5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QONNZR Noonan syndrome LD2F.15 Orphanet 648 TPD-QONNZR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QONNZR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QONNZR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QONNZR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QONNZR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QONNZR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QONNZR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QONNZR Craniopharyngioma 2F9A Orphanet 54595 TPD-QONNZR Cushing disease 5A70.0 Orphanet 96253 TPD-QOOYY9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QOOYY9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QOOYY9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QOPFH9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QOPFH9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QOPFH9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QOR06I Kennedy disease 8B61.4 Orphanet 481 TPD-QOR06I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QOR06I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QOR06I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QOSYZL Noonan syndrome LD2F.15 Orphanet 648 TPD-QOSYZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QOSYZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QOSYZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QOSYZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QOSYZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QOSYZL Lynch syndrome 2B90.Y Orphanet 144 TPD-QOSYZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QOSYZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QOUY5L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QOUY5L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QOWDWD Noonan syndrome LD2F.15 Orphanet 648 TPD-QOWDWD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QOWDWD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QOWDWD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QOWDWD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QOWDWD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QOWDWD Lynch syndrome 2B90.Y Orphanet 144 TPD-QOWDWD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QOWDWD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QOWN8C Kennedy disease 8B61.4 Orphanet 481 TPD-QOWN8C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QOWN8C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QOWN8C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QP31M3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QP31M3 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QP31M3 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QP31M3 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QP31M3 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QP31M3 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QP31M3 Semantic dementia 6D83 Orphanet 100069 TPD-QP31M3 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QP6N0W Noonan syndrome LD2F.15 Orphanet 648 TPD-QP6N0W Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QP6N0W Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QP6N0W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QP6N0W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QP6N0W Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QP6N0W Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QP6N0W Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QP6N0W Craniopharyngioma 2F9A Orphanet 54595 TPD-QP6N0W Cushing disease 5A70.0 Orphanet 96253 TPD-QP8AAV Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-QPA1KT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QPA1KT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QPA1KT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QPAAUV Noonan syndrome LD2F.15 Orphanet 648 TPD-QPAAUV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QPAAUV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QPAAUV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QPAAUV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QPAAUV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QPAAUV Lynch syndrome 2B90.Y Orphanet 144 TPD-QPAAUV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QPAAUV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QPBPBF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QPBPBF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QPBPBF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QPBPBF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QPDGX3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QPDGX3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QPDGX3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QPDIQ8 Kennedy disease 8B61.4 Orphanet 481 TPD-QPDIQ8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QPDIQ8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QPDIQ8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QPIMYH Familial melanoma QC61.Y Orphanet 618 TPD-QPIMYH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QPL3HI Familial melanoma QC61.Y Orphanet 618 TPD-QPL3HI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QPLIC5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QPLIC5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QPLIC5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QPLIC5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QPLIC5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QPLIC5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QPLIC5 Semantic dementia 6D83 Orphanet 100069 TPD-QPLIC5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QPN4RO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QPPZWD Kennedy disease 8B61.4 Orphanet 481 TPD-QPPZWD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QPPZWD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QPPZWD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QPXQQQ Familial melanoma QC61.Y Orphanet 618 TPD-QPXQQQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QPYO5A Noonan syndrome LD2F.15 Orphanet 648 TPD-QPYO5A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QPYO5A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QPYO5A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QPYO5A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QPYO5A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QPYO5A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QPYO5A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QPYO5A Craniopharyngioma 2F9A Orphanet 54595 TPD-QPYO5A Cushing disease 5A70.0 Orphanet 96253 TPD-QQ6BXN Kennedy disease 8B61.4 Orphanet 481 TPD-QQ6BXN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QQ6BXN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QQ6BXN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QQBHHM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QQBHHM Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QQBHHM Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QQBHHM Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QQBHHM Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QQBHHM Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QQBHHM Semantic dementia 6D83 Orphanet 100069 TPD-QQBHHM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QQEU6L Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-QQLAH1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QQLAH1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QQLAH1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QQLAH1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QQM5I1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QQM5I1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QQM5I1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QQM5I1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QQM5I1 Neuroblastoma 2A00.11 Orphanet 635 TPD-QQM5I1 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-QQM5I1 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-QQM5I1 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-QQM5I1 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-QQO118 Familial melanoma QC61.Y Orphanet 618 TPD-QQO118 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QQQ609 Familial melanoma QC61.Y Orphanet 618 TPD-QQQ609 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QQQC9C Noonan syndrome LD2F.15 Orphanet 648 TPD-QQQC9C Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-QQRHNB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QQRHNB Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QQRHNB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QQUVDM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QQUVDM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QQYN43 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QQYN43 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QR03EB Kennedy disease 8B61.4 Orphanet 481 TPD-QR03EB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QR03EB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QR03EB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QR1QIH Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-QR4JQS Noonan syndrome LD2F.15 Orphanet 648 TPD-QR4JQS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QR4JQS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QR4JQS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QR4JQS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QR4JQS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QR4JQS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QR4JQS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QR4JQS Craniopharyngioma 2F9A Orphanet 54595 TPD-QR4JQS Cushing disease 5A70.0 Orphanet 96253 TPD-QR9ITC Noonan syndrome LD2F.15 Orphanet 648 TPD-QR9ITC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QR9ITC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QR9ITC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QR9ITC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QR9ITC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QR9ITC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QR9ITC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QR9ITC Craniopharyngioma 2F9A Orphanet 54595 TPD-QR9ITC Cushing disease 5A70.0 Orphanet 96253 TPD-QRDDCM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-QRDDPT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QRDDPT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QRQ472 Noonan syndrome LD2F.15 Orphanet 648 TPD-QRQ472 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QRQ472 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QRQ472 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QRQ472 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QRQ472 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QRQ472 Lynch syndrome 2B90.Y Orphanet 144 TPD-QRQ472 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QRQ472 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QRSMEM Kennedy disease 8B61.4 Orphanet 481 TPD-QRSMEM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QRSMEM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QRSMEM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QRWY0M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QRWY0M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QRWY0M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QS3LIL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QS3LIL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QS48WP Noonan syndrome LD2F.15 Orphanet 648 TPD-QS48WP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QS48WP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QS48WP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QS48WP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QS48WP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QS48WP Lynch syndrome 2B90.Y Orphanet 144 TPD-QS48WP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QS48WP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QS8FH0 Familial melanoma QC61.Y Orphanet 618 TPD-QS8FH0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QSAK5C Kennedy disease 8B61.4 Orphanet 481 TPD-QSAK5C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QSAK5C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QSAK5C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QSAPXP Weaver syndrome LD2C Orphanet 3447 TPD-QSBV6E Noonan syndrome LD2F.15 Orphanet 648 TPD-QSBV6E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QSBV6E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QSBV6E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QSBV6E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QSBV6E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QSBV6E Lynch syndrome 2B90.Y Orphanet 144 TPD-QSBV6E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QSBV6E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QSFG03 Noonan syndrome LD2F.15 Orphanet 648 TPD-QSFG03 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QSFG03 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QSFG03 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QSFG03 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QSFG03 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QSFG03 Lynch syndrome 2B90.Y Orphanet 144 TPD-QSFG03 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QSFG03 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QSJ610 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QSJ610 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QSJ610 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QSJ610 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QSJ610 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QSJ610 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QSJ610 Semantic dementia 6D83 Orphanet 100069 TPD-QSJ610 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QSLP0V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QSP6NF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QSQUVY Noonan syndrome LD2F.15 Orphanet 648 TPD-QSQUVY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QSQUVY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QSQUVY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QSQUVY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QSQUVY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QSQUVY Lynch syndrome 2B90.Y Orphanet 144 TPD-QSQUVY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QSQUVY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QSRGDE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QSRGDE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QST1OF Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-QST1OF Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-QST1OF Primary myelofibrosis 2A20.2 Orphanet 824 TPD-QST1OF Polycythemia vera 2A20.4 Orphanet 729 TPD-QST1OF Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-QST1OF Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-QSVK4L Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QSWGO9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QSWGO9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QSWGO9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QSXQH8 Noonan syndrome LD2F.15 Orphanet 648 TPD-QSXQH8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QSXQH8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QSXQH8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QSXQH8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QSXQH8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QSXQH8 Lynch syndrome 2B90.Y Orphanet 144 TPD-QSXQH8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QSXQH8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QT51GP Noonan syndrome LD2F.15 Orphanet 648 TPD-QT51GP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QT51GP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QT51GP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QT51GP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QT51GP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QT51GP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QT51GP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QT51GP Craniopharyngioma 2F9A Orphanet 54595 TPD-QT51GP Cushing disease 5A70.0 Orphanet 96253 TPD-QTA3PX Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-QTA3PX Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-QTA3PX Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-QTA3PX Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-QTA3PX Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-QTA3PX Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-QTA3PX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QTA3PX Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-QTA3PX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-QTAKE7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QTAM28 Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-QTAM28 Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-QTAM28 Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-QTAM28 Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-QTAM28 Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-QTAMIB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QTCO6L Noonan syndrome LD2F.15 Orphanet 648 TPD-QTCO6L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QTCO6L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QTCO6L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QTCO6L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QTCO6L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QTCO6L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QTCO6L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QTCO6L Craniopharyngioma 2F9A Orphanet 54595 TPD-QTCO6L Cushing disease 5A70.0 Orphanet 96253 TPD-QTDOTG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QTDOTG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QTFD73 Kennedy disease 8B61.4 Orphanet 481 TPD-QTFD73 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QTFD73 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QTFD73 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QTGYY6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QTGYY6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QTHI61 Kennedy disease 8B61.4 Orphanet 481 TPD-QTHI61 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QTHI61 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QTHI61 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QTKG7F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QTKG7F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QTN7L9 Noonan syndrome LD2F.15 Orphanet 648 TPD-QTN7L9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QTN7L9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QTN7L9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QTN7L9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QTN7L9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QTN7L9 Lynch syndrome 2B90.Y Orphanet 144 TPD-QTN7L9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QTN7L9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QTPN01 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QTRU02 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QTRU02 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QTS3OL Noonan syndrome LD2F.15 Orphanet 648 TPD-QTS3OL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QTS3OL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QTS3OL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QTS3OL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QTS3OL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QTS3OL Lynch syndrome 2B90.Y Orphanet 144 TPD-QTS3OL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QTS3OL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QTTJTN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QTTJTN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QTTJTN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QTW6ST Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QTW6ST Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QTW6ST Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QTW6ST Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QTW6ST Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QTW6ST Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QTW6ST Semantic dementia 6D83 Orphanet 100069 TPD-QTW6ST Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QTZM5W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QTZM5W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QTZM5W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QTZM5W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QU13QO Noonan syndrome LD2F.15 Orphanet 648 TPD-QU13QO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QU13QO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QU13QO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QU13QO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QU13QO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QU13QO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QU13QO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QU13QO Craniopharyngioma 2F9A Orphanet 54595 TPD-QU13QO Cushing disease 5A70.0 Orphanet 96253 TPD-QU2J07 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QU348B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QU348B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QU348B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QU348B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QU3NH6 Kennedy disease 8B61.4 Orphanet 481 TPD-QU3NH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QU3NH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QU3NH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QUIA54 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QULPIT Familial melanoma QC61.Y Orphanet 618 TPD-QULPIT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QUMN6O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QUMN6O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QURDVC Kennedy disease 8B61.4 Orphanet 481 TPD-QURDVC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QURDVC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QURDVC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QUS6ER Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QUSL8X Noonan syndrome LD2F.15 Orphanet 648 TPD-QUSL8X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QUSL8X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QUSL8X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QUSL8X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QUSL8X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QUSL8X Lynch syndrome 2B90.Y Orphanet 144 TPD-QUSL8X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QUSL8X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QUSM35 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QUTGUO Kennedy disease 8B61.4 Orphanet 481 TPD-QUTGUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QUTGUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QUTGUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QUU4WK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QUU4WK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QUU4WK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QUU8B4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QUUDFV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QUUDFV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QUX91G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QUX91G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QUXU9U Noonan syndrome LD2F.15 Orphanet 648 TPD-QUXU9U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QUXU9U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QUXU9U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QUXU9U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QUXU9U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QUXU9U Lynch syndrome 2B90.Y Orphanet 144 TPD-QUXU9U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QUXU9U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QV1SCQ Kennedy disease 8B61.4 Orphanet 481 TPD-QV1SCQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QV1SCQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QV1SCQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QV3ANV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QV4XXQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QV50PJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QV7G4Z Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-QV7G4Z Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-QV9K08 Kennedy disease 8B61.4 Orphanet 481 TPD-QV9K08 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QV9K08 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QV9K08 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QVB13G Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-QVDQVT Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-QVG565 Noonan syndrome LD2F.15 Orphanet 648 TPD-QVG565 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QVG565 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QVG565 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QVG565 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QVG565 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QVG565 Lynch syndrome 2B90.Y Orphanet 144 TPD-QVG565 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QVG565 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QVHBZE Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-QVI0VZ Kennedy disease 8B61.4 Orphanet 481 TPD-QVI0VZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QVI0VZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QVI0VZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QVIPWZ Familial melanoma QC61.Y Orphanet 618 TPD-QVIPWZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QVL0RN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QVL0RN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QVL0RN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QVM4LZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QVM4LZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QVM4LZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QVM4LZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QVOJAY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QVOJAY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QVP4VQ Kennedy disease 8B61.4 Orphanet 481 TPD-QVP4VQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QVP4VQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QVP4VQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QVPEYG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QVPWON Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-QVPWON Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-QVQH7O Noonan syndrome LD2F.15 Orphanet 648 TPD-QVQH7O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QVQH7O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QVQH7O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QVQH7O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QVQH7O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QVQH7O Lynch syndrome 2B90.Y Orphanet 144 TPD-QVQH7O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QVQH7O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QVV6BK Kennedy disease 8B61.4 Orphanet 481 TPD-QVV6BK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QVV6BK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QVV6BK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QVXQKN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QVXQKN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QVYZLS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QVYZLS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QVYZLS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QVYZLS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QVYZLS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QVYZLS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QVYZLS Semantic dementia 6D83 Orphanet 100069 TPD-QVYZLS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QW4DKZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QW4GCF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QW4GCF Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QW4GCF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QWEF2N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QWEF2N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QWEF2N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QWEMXN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QWEMXN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QWEMXN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QWH716 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-QWH716 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-QWH716 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-QWJGTK Kennedy disease 8B61.4 Orphanet 481 TPD-QWJGTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QWJGTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QWJGTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QWK4A6 Noonan syndrome LD2F.15 Orphanet 648 TPD-QWK4A6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QWK4A6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QWK4A6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QWK4A6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QWK4A6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QWK4A6 Lynch syndrome 2B90.Y Orphanet 144 TPD-QWK4A6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QWK4A6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QWNAVW Noonan syndrome LD2F.15 Orphanet 648 TPD-QWNAVW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QWNAVW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QWNAVW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QWNAVW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QWNAVW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QWNAVW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QWNAVW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QWNAVW Craniopharyngioma 2F9A Orphanet 54595 TPD-QWNAVW Cushing disease 5A70.0 Orphanet 96253 TPD-QWO9W8 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-QWO9W8 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-QWO9W8 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-QWO9W8 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-QWO9W8 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-QWO9W8 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-QWO9W8 Semantic dementia 6D83 Orphanet 100069 TPD-QWO9W8 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-QWT9EL Noonan syndrome LD2F.15 Orphanet 648 TPD-QWT9EL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QWT9EL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QWT9EL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QWT9EL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QWT9EL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QWT9EL Lynch syndrome 2B90.Y Orphanet 144 TPD-QWT9EL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QWT9EL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QWZHWZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QWZHWZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QX00KW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QX00KW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QX00KW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QX03RD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QX1866 Kennedy disease 8B61.4 Orphanet 481 TPD-QX1866 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QX1866 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QX1866 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QX56Z7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QX56Z7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QX62S1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QX7MO4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QX7MO4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QX7MO4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QX885O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QX885O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QX885O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QX8UKP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QXAYSZ Familial melanoma QC61.Y Orphanet 618 TPD-QXAYSZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QXC5U5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QXC5U5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QXC5U5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QXFQ20 Noonan syndrome LD2F.15 Orphanet 648 TPD-QXFQ20 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QXFQ20 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QXFQ20 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QXFQ20 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QXFQ20 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QXFQ20 Lynch syndrome 2B90.Y Orphanet 144 TPD-QXFQ20 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QXFQ20 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QXFZVM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QXFZVM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QXFZVM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QXJ50R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QXJ50R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QXJ50R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QXKMTG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QXL8DR Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-QXL8DR Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-QXO2VH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QXO2VH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QXO2VH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QXQ7SC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QXQ7SC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QXQ7SC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QXQQIK Noonan syndrome LD2F.15 Orphanet 648 TPD-QXQQIK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QXQQIK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QXQQIK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QXQQIK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QXQQIK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QXQQIK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QXQQIK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QXQQIK Craniopharyngioma 2F9A Orphanet 54595 TPD-QXQQIK Cushing disease 5A70.0 Orphanet 96253 TPD-QXSHWQ Noonan syndrome LD2F.15 Orphanet 648 TPD-QXSHWQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QXSHWQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QXSHWQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QXSHWQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QXSHWQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QXSHWQ Lynch syndrome 2B90.Y Orphanet 144 TPD-QXSHWQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QXSHWQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QXUAUK Noonan syndrome LD2F.15 Orphanet 648 TPD-QXUAUK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QXUAUK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QXUAUK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QXUAUK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QXUAUK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QXUAUK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QXUAUK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QXUAUK Craniopharyngioma 2F9A Orphanet 54595 TPD-QXUAUK Cushing disease 5A70.0 Orphanet 96253 TPD-QXV3K8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QXVHB4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QXVHB4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QXVP33 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QXVP33 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QXVP33 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QXVP33 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QXXCVT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QY012C Kennedy disease 8B61.4 Orphanet 481 TPD-QY012C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QY012C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QY012C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QY04QH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QY04QH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QY0B07 Noonan syndrome LD2F.15 Orphanet 648 TPD-QY0B07 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QY0B07 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QY0B07 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QY0B07 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QY0B07 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QY0B07 Lynch syndrome 2B90.Y Orphanet 144 TPD-QY0B07 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QY0B07 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QY1EEU Kennedy disease 8B61.4 Orphanet 481 TPD-QY1EEU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QY1EEU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QY1EEU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QY1T9M Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-QY3ENJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QY3ENJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QY3ENJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QY5Q1B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QY5Q1B Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-QY6361 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QY73WV Noonan syndrome LD2F.15 Orphanet 648 TPD-QY73WV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-QY73WV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-QY73WV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QY73WV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QY73WV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-QY73WV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-QY73WV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-QY73WV Craniopharyngioma 2F9A Orphanet 54595 TPD-QY73WV Cushing disease 5A70.0 Orphanet 96253 TPD-QYAHYA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-QYAHYA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-QYHNBK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QYHNBK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QYHNBK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QYHNBK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QYM79M Kennedy disease 8B61.4 Orphanet 481 TPD-QYM79M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QYM79M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QYM79M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QYQHSZ Kennedy disease 8B61.4 Orphanet 481 TPD-QYQHSZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QYQHSZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QYQHSZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QYS57S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-QYS57S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-QYS57S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-QYS57S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-QYSDS3 Familial melanoma QC61.Y Orphanet 618 TPD-QYSDS3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-QYST72 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QYT06W Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-QYTBKU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-QYZF73 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QYZF73 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QZ4WF9 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-QZ5NO6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-QZ903D Kennedy disease 8B61.4 Orphanet 481 TPD-QZ903D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QZ903D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QZ903D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QZD7YR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QZD7YR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QZD7YR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QZHAET Noonan syndrome LD2F.15 Orphanet 648 TPD-QZHAET Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QZHAET Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QZHAET Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QZHAET Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QZHAET Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QZHAET Lynch syndrome 2B90.Y Orphanet 144 TPD-QZHAET Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QZHAET Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-QZJXKV Kennedy disease 8B61.4 Orphanet 481 TPD-QZJXKV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QZJXKV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QZJXKV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QZKNM4 Kennedy disease 8B61.4 Orphanet 481 TPD-QZKNM4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QZKNM4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QZKNM4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QZMSTJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QZMSTJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QZMSTJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QZODOU Kennedy disease 8B61.4 Orphanet 481 TPD-QZODOU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-QZODOU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-QZODOU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-QZOU1L Weaver syndrome LD2C Orphanet 3447 TPD-QZRL3Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QZRL3Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QZRL3Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QZSCTF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-QZSCTF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-QZSCTF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-QZT1OA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-QZT1OA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-QZT1OA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-QZY4FJ Noonan syndrome LD2F.15 Orphanet 648 TPD-QZY4FJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-QZY4FJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-QZY4FJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-QZY4FJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-QZY4FJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-QZY4FJ Lynch syndrome 2B90.Y Orphanet 144 TPD-QZY4FJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-QZY4FJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R000O1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R000O1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R038GM Noonan syndrome LD2F.15 Orphanet 648 TPD-R038GM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R038GM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R038GM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R038GM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R038GM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R038GM Lynch syndrome 2B90.Y Orphanet 144 TPD-R038GM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R038GM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R05AQT Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-R08J55 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R0CK0I Noonan syndrome LD2F.15 Orphanet 648 TPD-R0CK0I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R0CK0I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R0CK0I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R0CK0I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R0CK0I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R0CK0I Lynch syndrome 2B90.Y Orphanet 144 TPD-R0CK0I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R0CK0I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R0IAUC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-R0JRK1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R0JRK1 Neuroblastoma 2A00.11 Orphanet 635 TPD-R0JRK1 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-R0JRK1 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-R0JRK1 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-R0LECW Familial melanoma QC61.Y Orphanet 618 TPD-R0LECW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R0O01O Noonan syndrome LD2F.15 Orphanet 648 TPD-R0O01O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R0O01O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R0O01O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R0O01O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R0O01O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R0O01O Lynch syndrome 2B90.Y Orphanet 144 TPD-R0O01O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R0O01O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R0ORL9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R0OU89 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R0OU89 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R0S2P1 Noonan syndrome LD2F.15 Orphanet 648 TPD-R0S2P1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R0S2P1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R0S2P1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R0S2P1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R0S2P1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R0S2P1 Lynch syndrome 2B90.Y Orphanet 144 TPD-R0S2P1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R0S2P1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R0T2YA Noonan syndrome LD2F.15 Orphanet 648 TPD-R0T2YA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R0T2YA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R0T2YA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R0T2YA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R0T2YA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R0T2YA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R0T2YA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R0T2YA Craniopharyngioma 2F9A Orphanet 54595 TPD-R0T2YA Cushing disease 5A70.0 Orphanet 96253 TPD-R0U2PV Noonan syndrome LD2F.15 Orphanet 648 TPD-R0U2PV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R0U2PV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R0U2PV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R0U2PV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R0U2PV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R0U2PV Lynch syndrome 2B90.Y Orphanet 144 TPD-R0U2PV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R0U2PV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R0UV2X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R0UV2X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R0UV2X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R0UV2X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R0WA47 Kennedy disease 8B61.4 Orphanet 481 TPD-R0WA47 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R0WA47 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R0WA47 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R0YOLH Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-R12A0Q Hereditary atrial fibrillation BC65.Y Orphanet 334 TPD-R12A0Q Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-R12YAU Noonan syndrome LD2F.15 Orphanet 648 TPD-R12YAU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R12YAU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R12YAU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R12YAU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R12YAU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R12YAU Lynch syndrome 2B90.Y Orphanet 144 TPD-R12YAU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R12YAU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R135S1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-R135S1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-R165UL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R17TT2 Kennedy disease 8B61.4 Orphanet 481 TPD-R17TT2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R17TT2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R17TT2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R1AD2D Noonan syndrome LD2F.15 Orphanet 648 TPD-R1AD2D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R1AD2D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R1AD2D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R1AD2D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R1AD2D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R1AD2D Lynch syndrome 2B90.Y Orphanet 144 TPD-R1AD2D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R1AD2D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R1DCJB Noonan syndrome LD2F.15 Orphanet 648 TPD-R1DCJB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R1DCJB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R1DCJB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R1DCJB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R1DCJB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R1DCJB Lynch syndrome 2B90.Y Orphanet 144 TPD-R1DCJB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R1DCJB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R1DMKQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R1EDCO Familial melanoma QC61.Y Orphanet 618 TPD-R1EDCO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R1FIIJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-R1FIIJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-R1FIIJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-R1FIIJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-R1FIIJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-R1FIIJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-R1FIIJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R1FIIJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-R1FIIJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-R1GPUW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R1GPUW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R1GPUW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R1GPUW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R1H3QX Noonan syndrome LD2F.15 Orphanet 648 TPD-R1H3QX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R1H3QX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R1H3QX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R1H3QX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R1H3QX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R1H3QX Lynch syndrome 2B90.Y Orphanet 144 TPD-R1H3QX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R1H3QX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R1JHK7 Kennedy disease 8B61.4 Orphanet 481 TPD-R1JHK7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R1JHK7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R1JHK7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R1JSAF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R1JSAF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R1JSAF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R1KTE5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R1KTE5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R1KTE5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R1L5G4 Noonan syndrome LD2F.15 Orphanet 648 TPD-R1L5G4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R1L5G4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R1L5G4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R1L5G4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R1L5G4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R1L5G4 Lynch syndrome 2B90.Y Orphanet 144 TPD-R1L5G4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R1L5G4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R1PQTJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R1PQTJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R1PQTJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R1U0II X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R1U0II Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R1WKGM Familial melanoma QC61.Y Orphanet 618 TPD-R1WKGM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R1Y21C Noonan syndrome LD2F.15 Orphanet 648 TPD-R1Y21C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R1Y21C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R1Y21C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R1Y21C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R1Y21C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R1Y21C Lynch syndrome 2B90.Y Orphanet 144 TPD-R1Y21C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R1Y21C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R2244O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R2244O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R25259 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R2CD7K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R2CD7K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R2CD7K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R2CD7K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R2CXKG Familial melanoma QC61.Y Orphanet 618 TPD-R2CXKG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R2FVHY Noonan syndrome LD2F.15 Orphanet 648 TPD-R2FVHY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R2FVHY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R2FVHY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R2FVHY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R2FVHY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R2FVHY Lynch syndrome 2B90.Y Orphanet 144 TPD-R2FVHY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R2FVHY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R2HB2F Noonan syndrome LD2F.15 Orphanet 648 TPD-R2HB2F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R2HB2F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R2HB2F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R2HB2F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R2HB2F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R2HB2F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R2HB2F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R2HB2F Craniopharyngioma 2F9A Orphanet 54595 TPD-R2HB2F Cushing disease 5A70.0 Orphanet 96253 TPD-R2MD8B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R2MD8B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R2QQZI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-R2QQZI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-R2QQZI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-R2QQZI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-R2QQZI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-R2QQZI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-R2QQZI Semantic dementia 6D83 Orphanet 100069 TPD-R2QQZI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-R2WZ0C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R2WZ0C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R2YKAA Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-R2YMHG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R2YMHG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R310EK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R310EK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R310EK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R310EK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R34BPI Kennedy disease 8B61.4 Orphanet 481 TPD-R34BPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R34BPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R34BPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R35Z7J Familial melanoma QC61.Y Orphanet 618 TPD-R35Z7J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R37M1O Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-R3A9BX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R3AAJS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R3AAJS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-R3AAJS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R3ABPC Noonan syndrome LD2F.15 Orphanet 648 TPD-R3ABPC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R3ABPC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R3ABPC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R3ABPC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R3ABPC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R3ABPC Lynch syndrome 2B90.Y Orphanet 144 TPD-R3ABPC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R3ABPC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R3AYM8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R3AYM8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R3BBIN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R3LLDJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R3LLDJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-R3LLDJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R3MYHA Noonan syndrome LD2F.15 Orphanet 648 TPD-R3MYHA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R3MYHA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R3MYHA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R3MYHA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R3MYHA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R3MYHA Lynch syndrome 2B90.Y Orphanet 144 TPD-R3MYHA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R3MYHA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R3NME3 Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-R3OP72 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R3OP72 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R3OP72 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R3RIPH Weaver syndrome LD2C Orphanet 3447 TPD-R3SLHX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R3SLHX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R3SW4Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R3SW4Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R3SW4Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R3Y7L3 Noonan syndrome LD2F.15 Orphanet 648 TPD-R3Y7L3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R3Y7L3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R3Y7L3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R3Y7L3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R3Y7L3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R3Y7L3 Lynch syndrome 2B90.Y Orphanet 144 TPD-R3Y7L3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R3Y7L3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R3YED6 Noonan syndrome LD2F.15 Orphanet 648 TPD-R3YED6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R3YED6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R3YED6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R3YED6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R3YED6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R3YED6 Lynch syndrome 2B90.Y Orphanet 144 TPD-R3YED6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R3YED6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R400DT Kennedy disease 8B61.4 Orphanet 481 TPD-R400DT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R400DT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R400DT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R43G3B Kennedy disease 8B61.4 Orphanet 481 TPD-R43G3B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R43G3B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R43G3B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R46XZD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R47CF6 Familial melanoma QC61.Y Orphanet 618 TPD-R4A41F Noonan syndrome LD2F.15 Orphanet 648 TPD-R4A41F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R4A41F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R4A41F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R4A41F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R4A41F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R4A41F Lynch syndrome 2B90.Y Orphanet 144 TPD-R4A41F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R4A41F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R4AQK8 Noonan syndrome LD2F.15 Orphanet 648 TPD-R4AQK8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R4AQK8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R4AQK8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R4AQK8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R4AQK8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R4AQK8 Lynch syndrome 2B90.Y Orphanet 144 TPD-R4AQK8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R4AQK8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R4AZYH Noonan syndrome LD2F.15 Orphanet 648 TPD-R4AZYH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R4AZYH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R4AZYH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R4AZYH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R4AZYH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R4AZYH Lynch syndrome 2B90.Y Orphanet 144 TPD-R4AZYH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R4AZYH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R4IIF9 Familial melanoma QC61.Y Orphanet 618 TPD-R4IIF9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R4OTMO Kennedy disease 8B61.4 Orphanet 481 TPD-R4OTMO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R4OTMO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R4OTMO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R4RZ61 Noonan syndrome LD2F.15 Orphanet 648 TPD-R4RZ61 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R4RZ61 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R4RZ61 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R4RZ61 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R4RZ61 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R4RZ61 Lynch syndrome 2B90.Y Orphanet 144 TPD-R4RZ61 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R4RZ61 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R4TXBC Familial melanoma QC61.Y Orphanet 618 TPD-R4TXBC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R4U1A7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R4U1A7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R4YG10 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R4YG10 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-R4YG10 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R4YPMJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R4YPMJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R4ZJFK Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-R51Z5X Kennedy disease 8B61.4 Orphanet 481 TPD-R51Z5X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R51Z5X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R51Z5X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R5B9ST Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-R5D4ZR Kennedy disease 8B61.4 Orphanet 481 TPD-R5D4ZR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R5D4ZR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R5D4ZR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R5DVI8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R5EDPB Kennedy disease 8B61.4 Orphanet 481 TPD-R5EDPB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R5EDPB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R5EDPB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R5HOOU Kennedy disease 8B61.4 Orphanet 481 TPD-R5HOOU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R5HOOU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R5HOOU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R5MFOB Noonan syndrome LD2F.15 Orphanet 648 TPD-R5MFOB Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-R5MK50 Kennedy disease 8B61.4 Orphanet 481 TPD-R5MK50 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R5MK50 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R5MK50 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R5MPMG Noonan syndrome LD2F.15 Orphanet 648 TPD-R5MPMG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R5MPMG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R5MPMG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R5MPMG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R5MPMG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R5MPMG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R5MPMG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R5MPMG Craniopharyngioma 2F9A Orphanet 54595 TPD-R5MPMG Cushing disease 5A70.0 Orphanet 96253 TPD-R5R1WM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R5R1WM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R5S2O6 Noonan syndrome LD2F.15 Orphanet 648 TPD-R5S2O6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R5S2O6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R5S2O6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R5S2O6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R5S2O6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R5S2O6 Lynch syndrome 2B90.Y Orphanet 144 TPD-R5S2O6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R5S2O6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R5XN2A Kennedy disease 8B61.4 Orphanet 481 TPD-R5XN2A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R5XN2A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R5XN2A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6034W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R6034W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R6034W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R6034W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R625TN Kennedy disease 8B61.4 Orphanet 481 TPD-R625TN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R625TN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R625TN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R66TBE Noonan syndrome LD2F.15 Orphanet 648 TPD-R66TBE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R66TBE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R66TBE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R66TBE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R66TBE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R66TBE Lynch syndrome 2B90.Y Orphanet 144 TPD-R66TBE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R66TBE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R66YMU Noonan syndrome LD2F.15 Orphanet 648 TPD-R66YMU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R66YMU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R66YMU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R66YMU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R66YMU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R66YMU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R66YMU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R66YMU Craniopharyngioma 2F9A Orphanet 54595 TPD-R66YMU Cushing disease 5A70.0 Orphanet 96253 TPD-R6B8DF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R6B8DF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R6B8DF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R6B8DF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R6CBAE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R6E6C0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R6E6C0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R6E6C0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R6F8D4 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-R6IVOZ Kennedy disease 8B61.4 Orphanet 481 TPD-R6IVOZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6IVOZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6IVOZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6JNSF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R6K5TC Noonan syndrome LD2F.15 Orphanet 648 TPD-R6K5TC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R6K5TC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R6K5TC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R6K5TC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R6K5TC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R6K5TC Lynch syndrome 2B90.Y Orphanet 144 TPD-R6K5TC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R6K5TC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R6L3SZ Kennedy disease 8B61.4 Orphanet 481 TPD-R6L3SZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6L3SZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6L3SZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6LQ04 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R6LQ04 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R6LXNX Kennedy disease 8B61.4 Orphanet 481 TPD-R6LXNX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6LXNX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6LXNX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6NUFW Kennedy disease 8B61.4 Orphanet 481 TPD-R6NUFW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6NUFW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6NUFW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6Q0OA Kennedy disease 8B61.4 Orphanet 481 TPD-R6Q0OA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6Q0OA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6Q0OA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6Q7J3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R6R3XV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R6RM0P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R6T49D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R6T49D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R6T49D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R6UKB1 Kennedy disease 8B61.4 Orphanet 481 TPD-R6UKB1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R6UKB1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R6UKB1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R6XVS6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R6Z19E Noonan syndrome LD2F.15 Orphanet 648 TPD-R6Z19E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R6Z19E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R6Z19E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R6Z19E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R6Z19E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R6Z19E Lynch syndrome 2B90.Y Orphanet 144 TPD-R6Z19E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R6Z19E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R704FJ Kennedy disease 8B61.4 Orphanet 481 TPD-R704FJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R704FJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R704FJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R71868 Noonan syndrome LD2F.15 Orphanet 648 TPD-R71868 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R71868 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R71868 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R71868 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R71868 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R71868 Lynch syndrome 2B90.Y Orphanet 144 TPD-R71868 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R71868 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R727ND Kennedy disease 8B61.4 Orphanet 481 TPD-R727ND Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R727ND Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R727ND Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R74T1S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R75DGE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R77UYC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R77UYC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R77UYC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R7AZ3E Noonan syndrome LD2F.15 Orphanet 648 TPD-R7AZ3E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R7AZ3E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R7AZ3E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R7AZ3E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R7AZ3E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R7AZ3E Lynch syndrome 2B90.Y Orphanet 144 TPD-R7AZ3E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R7AZ3E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R7I747 Familial melanoma QC61.Y Orphanet 618 TPD-R7I747 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R7K6YP Noonan syndrome LD2F.15 Orphanet 648 TPD-R7K6YP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R7K6YP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R7K6YP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R7K6YP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R7K6YP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R7K6YP Lynch syndrome 2B90.Y Orphanet 144 TPD-R7K6YP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R7K6YP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R7OEZS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R7OF23 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-R7OF23 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-R7R0U6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R7R0U6 Neuroblastoma 2A00.11 Orphanet 635 TPD-R7R0U6 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-R7R0U6 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-R7R0U6 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-R7SVYC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R7UJ38 Achondroplasia LD24.00 Orphanet 15 TPD-R7UJ38 Hypochondroplasia LD24.01 Orphanet 429 TPD-R7UJ38 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-R7UJ38 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-R7UJ38 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-R7UJ38 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R7UJ38 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R7UJ38 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-R7UJ38 Muenke syndrome LD24.GY Orphanet 53271 TPD-R7UJ38 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-R7UJ38 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-R7UJ38 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-R7ULCX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R7ULCX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R7VBPK Kennedy disease 8B61.4 Orphanet 481 TPD-R7VBPK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R7VBPK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R7VBPK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R7VI8H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R7VI8H Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R81BER Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R81BER Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R82EML Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R82EML Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R83M7Z Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R83R2R Noonan syndrome LD2F.15 Orphanet 648 TPD-R83R2R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R83R2R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R83R2R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R83R2R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R83R2R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R83R2R Lynch syndrome 2B90.Y Orphanet 144 TPD-R83R2R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R83R2R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R8496O Noonan syndrome LD2F.15 Orphanet 648 TPD-R8496O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R8496O Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R8496O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R8496O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R8496O Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R8496O Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R8496O Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R8496O Craniopharyngioma 2F9A Orphanet 54595 TPD-R8496O Cushing disease 5A70.0 Orphanet 96253 TPD-R84XN1 Kennedy disease 8B61.4 Orphanet 481 TPD-R84XN1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R84XN1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R84XN1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R861OJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R861OJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R861OJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R8ABHW Kennedy disease 8B61.4 Orphanet 481 TPD-R8ABHW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R8ABHW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R8ABHW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R8CN6D Familial melanoma QC61.Y Orphanet 618 TPD-R8CN6D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-R8DAYV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R8DAYV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R8DAYV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R8IJAG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R8K8HC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-R8KG82 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-R8KYUG Noonan syndrome LD2F.15 Orphanet 648 TPD-R8KYUG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-R8KYUG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-R8KYUG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R8KYUG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R8KYUG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-R8KYUG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-R8KYUG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-R8KYUG Craniopharyngioma 2F9A Orphanet 54595 TPD-R8KYUG Cushing disease 5A70.0 Orphanet 96253 TPD-R8NC9W Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-R8R6XF Noonan syndrome LD2F.15 Orphanet 648 TPD-R8R6XF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R8R6XF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R8R6XF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R8R6XF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R8R6XF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R8R6XF Lynch syndrome 2B90.Y Orphanet 144 TPD-R8R6XF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R8R6XF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R8T1GN Noonan syndrome LD2F.15 Orphanet 648 TPD-R8T1GN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R8T1GN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R8T1GN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R8T1GN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R8T1GN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R8T1GN Lynch syndrome 2B90.Y Orphanet 144 TPD-R8T1GN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R8T1GN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R8UKX8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R8UUYD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-R8UUYD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-R8V1J5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R8V1J5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R8WDXS Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-R8WDXS Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-R8WDXS Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-R8WDXS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-R8WDXS Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-R8WDXS Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-R8WDXS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R8WDXS Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-R8WDXS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-R8X16T Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R8X16T Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R8XHGY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R8XHGY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R8XHGY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R8XHGY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R938NR Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-R938NR Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-R94K21 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R94K21 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R94K21 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R94K21 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R94OKQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-R963A0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R963A0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-R97I9L Noonan syndrome LD2F.15 Orphanet 648 TPD-R97I9L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R97I9L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R97I9L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R97I9L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R97I9L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R97I9L Lynch syndrome 2B90.Y Orphanet 144 TPD-R97I9L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R97I9L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R97O5I Noonan syndrome LD2F.15 Orphanet 648 TPD-R97O5I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R97O5I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R97O5I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R97O5I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R97O5I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R97O5I Lynch syndrome 2B90.Y Orphanet 144 TPD-R97O5I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R97O5I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R9ATO2 Noonan syndrome LD2F.15 Orphanet 648 TPD-R9ATO2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R9ATO2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R9ATO2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R9ATO2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R9ATO2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R9ATO2 Lynch syndrome 2B90.Y Orphanet 144 TPD-R9ATO2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R9ATO2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R9BDX1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R9EZWF Kennedy disease 8B61.4 Orphanet 481 TPD-R9EZWF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R9EZWF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R9EZWF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R9GAEE Noonan syndrome LD2F.15 Orphanet 648 TPD-R9GAEE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R9GAEE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R9GAEE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R9GAEE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R9GAEE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R9GAEE Lynch syndrome 2B90.Y Orphanet 144 TPD-R9GAEE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R9GAEE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R9KCPU Noonan syndrome LD2F.15 Orphanet 648 TPD-R9KCPU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-R9KCPU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-R9KCPU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-R9KCPU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-R9KCPU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-R9KCPU Lynch syndrome 2B90.Y Orphanet 144 TPD-R9KCPU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-R9KCPU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-R9KGKL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-R9KUWZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-R9KUWZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-R9KUWZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-R9L8X4 Kennedy disease 8B61.4 Orphanet 481 TPD-R9L8X4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R9L8X4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R9L8X4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R9PWSY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R9PWSY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R9PWSY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R9RV4A Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-R9RV4A Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-R9RV4A Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-R9RV4A Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-R9RV4A Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-R9RV4A Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-R9RV4A B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R9RV4A Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-R9RV4A Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-R9RW9X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-R9S5X4 Kennedy disease 8B61.4 Orphanet 481 TPD-R9S5X4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R9S5X4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R9S5X4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R9SFS2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R9SFS2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R9SFS2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R9SFS2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-R9TITU Kennedy disease 8B61.4 Orphanet 481 TPD-R9TITU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R9TITU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R9TITU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R9TOGF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-R9XH4T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-R9XH4T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-R9XH4T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-R9XJYD Kennedy disease 8B61.4 Orphanet 481 TPD-R9XJYD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-R9XJYD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-R9XJYD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-R9YNZF Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-R9YNZF Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-R9ZP7Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-R9ZP7Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-R9ZP7Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-R9ZXZM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-RA071U Noonan syndrome LD2F.15 Orphanet 648 TPD-RA071U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RA071U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RA071U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RA071U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RA071U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RA071U Lynch syndrome 2B90.Y Orphanet 144 TPD-RA071U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RA071U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RA076S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RA076S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RA076S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RA3AXM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RA3AXM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RA3AXM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RA3F8P Kennedy disease 8B61.4 Orphanet 481 TPD-RA3F8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RA3F8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RA3F8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RA54SF Noonan syndrome LD2F.15 Orphanet 648 TPD-RA54SF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RA54SF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RA54SF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RA54SF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RA54SF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RA54SF Lynch syndrome 2B90.Y Orphanet 144 TPD-RA54SF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RA54SF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RA5CVV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RA7VYY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RA7WON Kennedy disease 8B61.4 Orphanet 481 TPD-RA7WON Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RA7WON Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RA7WON Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RAAMBI Familial melanoma QC61.Y Orphanet 618 TPD-RAAN6R Noonan syndrome LD2F.15 Orphanet 648 TPD-RAAN6R Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RAAN6R Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RAAN6R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RAAN6R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RAAN6R Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RAAN6R Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RAAN6R Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RAAN6R Craniopharyngioma 2F9A Orphanet 54595 TPD-RAAN6R Cushing disease 5A70.0 Orphanet 96253 TPD-RAAY7U Noonan syndrome LD2F.15 Orphanet 648 TPD-RAAY7U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RAAY7U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RAAY7U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RAAY7U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RAAY7U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RAAY7U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RAAY7U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RAAY7U Craniopharyngioma 2F9A Orphanet 54595 TPD-RAAY7U Cushing disease 5A70.0 Orphanet 96253 TPD-RAE7TB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RAE7TB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RAE7TB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RAI29I Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-RAJ0E0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RAJ0E0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RAPC7U Noonan syndrome LD2F.15 Orphanet 648 TPD-RAPC7U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RAPC7U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RAPC7U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RAPC7U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RAPC7U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RAPC7U Lynch syndrome 2B90.Y Orphanet 144 TPD-RAPC7U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RAPC7U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RAPK9N Kennedy disease 8B61.4 Orphanet 481 TPD-RAPK9N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RAPK9N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RAPK9N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RATL65 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-RATL65 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-RATL65 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-RATL65 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-RATL65 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-RATL65 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-RATL65 Semantic dementia 6D83 Orphanet 100069 TPD-RATL65 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-RAXEOS Noonan syndrome LD2F.15 Orphanet 648 TPD-RAXEOS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RAXEOS Metachondromatosis LD24.2Y Orphanet 2499 TPD-RAXEOS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RAYZQW Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-RB28MW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-RB28MW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-RB4F4F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RB4F4F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RB4F4F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RB5QG9 Kennedy disease 8B61.4 Orphanet 481 TPD-RB5QG9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RB5QG9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RB5QG9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RB60PB Noonan syndrome LD2F.15 Orphanet 648 TPD-RB60PB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RB60PB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RB60PB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RB60PB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RB60PB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RB60PB Lynch syndrome 2B90.Y Orphanet 144 TPD-RB60PB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RB60PB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RB7CX5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RB7F5I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RB7F5I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RB7F5I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RB8X38 Noonan syndrome LD2F.15 Orphanet 648 TPD-RB8X38 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RB8X38 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RB8X38 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RB8X38 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RB8X38 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RB8X38 Lynch syndrome 2B90.Y Orphanet 144 TPD-RB8X38 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RB8X38 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RB8XU5 Noonan syndrome LD2F.15 Orphanet 648 TPD-RB8XU5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RB8XU5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RB8XU5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RB8XU5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RB8XU5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RB8XU5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RB8XU5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RB8XU5 Craniopharyngioma 2F9A Orphanet 54595 TPD-RB8XU5 Cushing disease 5A70.0 Orphanet 96253 TPD-RBAKLQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RBAKLQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RBAKLQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RBAKLQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RBAKLQ Neuroblastoma 2A00.11 Orphanet 635 TPD-RBAKLQ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-RBAKLQ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-RBAKLQ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-RBAKLQ Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-RBAMLZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RBAMLZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RBAMLZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RBC0YU Familial melanoma QC61.Y Orphanet 618 TPD-RBC0YU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RBF4O7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RBGEQW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RBGEQW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RBGEQW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RBGEQW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RBJ6F5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RBNIFQ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-RBNIFQ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-RBNIFQ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-RBNIFQ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-RBNIFQ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-RBNIFQ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-RBNIFQ Semantic dementia 6D83 Orphanet 100069 TPD-RBNIFQ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-RBOCQN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RBOCQN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RBUSE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-RBUSE4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RBUSE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RBUSE4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RBUSE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RBUSE4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RBUSE4 Lynch syndrome 2B90.Y Orphanet 144 TPD-RBUSE4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RBUSE4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RBV8SM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RC7CBQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RC8AA8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RC8AA8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RC8AA8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RCC7AS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RCCYY9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RCCYY9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RCCYY9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RCCYY9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RCDKEH Noonan syndrome LD2F.15 Orphanet 648 TPD-RCDKEH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RCDKEH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RCDKEH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RCDKEH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RCDKEH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RCDKEH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RCDKEH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RCDKEH Craniopharyngioma 2F9A Orphanet 54595 TPD-RCDKEH Cushing disease 5A70.0 Orphanet 96253 TPD-RCDPWR Noonan syndrome LD2F.15 Orphanet 648 TPD-RCDPWR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RCDPWR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RCDPWR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RCDPWR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RCDPWR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RCDPWR Lynch syndrome 2B90.Y Orphanet 144 TPD-RCDPWR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RCDPWR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RCDS57 Kennedy disease 8B61.4 Orphanet 481 TPD-RCDS57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RCDS57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RCDS57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RCEHRO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RCEHRO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RCSIEE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RCSIEE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RCSIEE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RCTVT4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RCTVT4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RCUQFE Noonan syndrome LD2F.15 Orphanet 648 TPD-RCUQFE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RCUQFE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RCUQFE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RCUQFE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RCUQFE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RCUQFE Lynch syndrome 2B90.Y Orphanet 144 TPD-RCUQFE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RCUQFE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RCVACX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RCWZ0N Noonan syndrome LD2F.15 Orphanet 648 TPD-RCWZ0N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RCWZ0N Metachondromatosis LD24.2Y Orphanet 2499 TPD-RCWZ0N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RCX7YP Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-RCZ6W2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RCZ6W2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RCZ6W2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RCZLKT Noonan syndrome LD2F.15 Orphanet 648 TPD-RCZLKT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RCZLKT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RCZLKT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RCZLKT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RCZLKT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RCZLKT Lynch syndrome 2B90.Y Orphanet 144 TPD-RCZLKT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RCZLKT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RCZRKN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RD261V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RD261V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RD261V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RD5S96 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-RD6VW0 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RD6VW0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RDB6ER Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RDB6ER Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RDB6ER B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RDB6ER B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RDBUYP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RDCA5G Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RDDHER Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RDDHER Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RDDHER Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RDEOT5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RDETNU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-RDETNU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-RDGLKM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RDHRDM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RDHTMN Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-RDHTMN CINCA syndrome 4A60.1 Orphanet 1451 TPD-RDHTMN Familial cold urticaria 4A60.1 Orphanet 47045 TPD-RDJ3PF Kennedy disease 8B61.4 Orphanet 481 TPD-RDJ3PF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RDJ3PF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RDJ3PF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RDLOC4 Kennedy disease 8B61.4 Orphanet 481 TPD-RDLOC4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RDLOC4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RDLOC4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RDNHCJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RDO10K Noonan syndrome LD2F.15 Orphanet 648 TPD-RDO10K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RDO10K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RDO10K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RDO10K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RDO10K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RDO10K Lynch syndrome 2B90.Y Orphanet 144 TPD-RDO10K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RDO10K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RDO6VD Noonan syndrome LD2F.15 Orphanet 648 TPD-RDO6VD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RDO6VD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RDO6VD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RDO6VD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RDO6VD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RDO6VD Lynch syndrome 2B90.Y Orphanet 144 TPD-RDO6VD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RDO6VD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RDOX1K Achondroplasia LD24.00 Orphanet 15 TPD-RDOX1K Hypochondroplasia LD24.01 Orphanet 429 TPD-RDOX1K Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-RDOX1K Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-RDOX1K Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-RDOX1K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RDOX1K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RDOX1K Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-RDOX1K Muenke syndrome LD24.GY Orphanet 53271 TPD-RDOX1K Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-RDOX1K Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-RDOX1K Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-RDPC1D Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-RDUOVC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RDWAR7 Noonan syndrome LD2F.15 Orphanet 648 TPD-RDWAR7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RDWAR7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RDWAR7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RDWAR7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RDWAR7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RDWAR7 Lynch syndrome 2B90.Y Orphanet 144 TPD-RDWAR7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RDWAR7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RDXBSA Familial melanoma QC61.Y Orphanet 618 TPD-RDXBSA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RE6A7Z X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RE6A7Z Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RED0B0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RED0B0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-REINEC Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-REINEC Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-REINEC Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-REINEC Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-REMG9H Familial melanoma QC61.Y Orphanet 618 TPD-REMG9H Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-REP5NZ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-REQNJW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-REUJ8R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-REXWOT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-REXX71 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-REZBFS Noonan syndrome LD2F.15 Orphanet 648 TPD-REZBFS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-REZBFS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-REZBFS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-REZBFS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-REZBFS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-REZBFS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-REZBFS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-REZBFS Craniopharyngioma 2F9A Orphanet 54595 TPD-REZBFS Cushing disease 5A70.0 Orphanet 96253 TPD-REZBFS Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-RF9034 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RF9034 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RF9034 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RF9852 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-RFIJBM Kennedy disease 8B61.4 Orphanet 481 TPD-RFIJBM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RFIJBM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RFIJBM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RFKK3Z Kennedy disease 8B61.4 Orphanet 481 TPD-RFKK3Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RFKK3Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RFKK3Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RFMLOC Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-RFMLOC Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-RFN96P Noonan syndrome LD2F.15 Orphanet 648 TPD-RFN96P Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RFN96P Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RFN96P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RFN96P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RFN96P Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RFN96P Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RFN96P Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RFN96P Craniopharyngioma 2F9A Orphanet 54595 TPD-RFN96P Cushing disease 5A70.0 Orphanet 96253 TPD-RFNGHK Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-RFNXWD Kennedy disease 8B61.4 Orphanet 481 TPD-RFNXWD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RFNXWD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RFNXWD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RFQXW5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RFSI4D Noonan syndrome LD2F.15 Orphanet 648 TPD-RFSI4D Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RFX2WS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RFZC2V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RFZC2V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RFZC2V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RG3KKR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RG497H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RG497H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RG4MG9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RG7QIF Kennedy disease 8B61.4 Orphanet 481 TPD-RG7QIF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RG7QIF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RG7QIF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RG80U7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RG80U7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RG80U7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RG80U7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RG8D34 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RG8VWY Kennedy disease 8B61.4 Orphanet 481 TPD-RG8VWY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RG8VWY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RG8VWY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RGAWJ8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RGJ0IX Kennedy disease 8B61.4 Orphanet 481 TPD-RGJ0IX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RGJ0IX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RGJ0IX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RGL40H Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RGLAGR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RGLAGR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RGLAGR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RGN9QJ Kennedy disease 8B61.4 Orphanet 481 TPD-RGN9QJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RGN9QJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RGN9QJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RGQIGQ Noonan syndrome LD2F.15 Orphanet 648 TPD-RGQIGQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RGQIGQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RGQIGQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RGQIGQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RGQIGQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RGQIGQ Lynch syndrome 2B90.Y Orphanet 144 TPD-RGQIGQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RGQIGQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RGS5TX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RGUQB2 Kennedy disease 8B61.4 Orphanet 481 TPD-RGUQB2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RGUQB2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RGUQB2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RGXUKW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RGXUKW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RGXUKW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RGZ130 Noonan syndrome LD2F.15 Orphanet 648 TPD-RGZ130 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RGZ34T Kennedy disease 8B61.4 Orphanet 481 TPD-RGZ34T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RGZ34T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RGZ34T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RH1R8R CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RH3C3L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RH3C3L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RH5RU7 Noonan syndrome LD2F.15 Orphanet 648 TPD-RH5RU7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RH5RU7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RH5RU7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RH5RU7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RH5RU7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RH5RU7 Lynch syndrome 2B90.Y Orphanet 144 TPD-RH5RU7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RH5RU7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RH71WH Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-RH9J0Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RHA5L3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RHA5L3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RHA5L3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RHB1YD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RHD9RC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RHE7YM Noonan syndrome LD2F.15 Orphanet 648 TPD-RHE7YM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RHE7YM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RHE7YM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RHE7YM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RHE7YM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RHE7YM Lynch syndrome 2B90.Y Orphanet 144 TPD-RHE7YM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RHE7YM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RHHPGM Noonan syndrome LD2F.15 Orphanet 648 TPD-RHHPGM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RHHPGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RHHPGM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RHHPGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RHHPGM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RHHPGM Lynch syndrome 2B90.Y Orphanet 144 TPD-RHHPGM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RHHPGM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RHIWI4 Familial melanoma QC61.Y Orphanet 618 TPD-RHIWI4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RHL1U5 Noonan syndrome LD2F.15 Orphanet 648 TPD-RHL1U5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RHL1U5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RHL1U5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RHL1U5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RHL1U5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RHL1U5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RHL1U5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RHL1U5 Craniopharyngioma 2F9A Orphanet 54595 TPD-RHL1U5 Cushing disease 5A70.0 Orphanet 96253 TPD-RHL838 Familial melanoma QC61.Y Orphanet 618 TPD-RHL838 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RHMXGL Noonan syndrome LD2F.15 Orphanet 648 TPD-RHMXGL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RHMXGL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RHMXGL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RHMXGL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RHMXGL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RHMXGL Lynch syndrome 2B90.Y Orphanet 144 TPD-RHMXGL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RHMXGL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RHW7AC Noonan syndrome LD2F.15 Orphanet 648 TPD-RHW7AC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RHW7AC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RHW7AC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RHW7AC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RHW7AC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RHW7AC Lynch syndrome 2B90.Y Orphanet 144 TPD-RHW7AC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RHW7AC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RI03YA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RI2DRB Familial melanoma QC61.Y Orphanet 618 TPD-RI2DRB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RI3DDA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RI3DDA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RI444E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RI4US1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RI4US1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RI4US1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RI4US1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RI4WRC Kennedy disease 8B61.4 Orphanet 481 TPD-RI4WRC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RI4WRC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RI4WRC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RI6MXC Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RI8K1N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RI8K1N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RI8K1N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RI8K1N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RICQG7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RICQG7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RIF7MC Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-RIF7MC Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-RIF7MC Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-RIF7MC Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-RIF7MC Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-RIF7MC Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-RIF7MC Semantic dementia 6D83 Orphanet 100069 TPD-RIF7MC Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-RIKP4B Noonan syndrome LD2F.15 Orphanet 648 TPD-RIKP4B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RIKP4B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RIKP4B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RIKP4B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RIKP4B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RIKP4B Lynch syndrome 2B90.Y Orphanet 144 TPD-RIKP4B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RIKP4B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RILX0Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RILX0Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RILX0Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RIO074 Kennedy disease 8B61.4 Orphanet 481 TPD-RIO074 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RIO074 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RIO074 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RIO69B Familial melanoma QC61.Y Orphanet 618 TPD-RIO69B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RIO87T Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-RIO87T Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-RIO87T Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-RIO87T Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-RIO87T Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-RIO87T Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-RIO87T Semantic dementia 6D83 Orphanet 100069 TPD-RIO87T Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-RIQGXB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-RIQGXB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-RIQPOI Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-RIS7UX Noonan syndrome LD2F.15 Orphanet 648 TPD-RIS7UX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RIS7UX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RIS7UX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RIS7UX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RIS7UX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RIS7UX Lynch syndrome 2B90.Y Orphanet 144 TPD-RIS7UX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RIS7UX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RITXQW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RIU2KN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RIU2KN Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RIU2KN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RIXIHP Kennedy disease 8B61.4 Orphanet 481 TPD-RIXIHP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RIXIHP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RIXIHP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RIZH6A Kennedy disease 8B61.4 Orphanet 481 TPD-RIZH6A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RIZH6A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RIZH6A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RJ64QJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RJ6C93 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RJ6C93 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RJ6C93 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RJ6SYA Kennedy disease 8B61.4 Orphanet 481 TPD-RJ6SYA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RJ6SYA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RJ6SYA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RJBSYO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RJBSYO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RJBSYO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RJBT11 Noonan syndrome LD2F.15 Orphanet 648 TPD-RJBT11 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RJBT11 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RJBT11 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RJBT11 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RJBT11 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RJBT11 Lynch syndrome 2B90.Y Orphanet 144 TPD-RJBT11 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RJBT11 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RJCZ8X Noonan syndrome LD2F.15 Orphanet 648 TPD-RJCZ8X Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RJCZ8X Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RJCZ8X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RJCZ8X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RJCZ8X Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RJCZ8X Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RJCZ8X Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RJCZ8X Craniopharyngioma 2F9A Orphanet 54595 TPD-RJCZ8X Cushing disease 5A70.0 Orphanet 96253 TPD-RJD0LZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RJDRNM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RJHT21 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RJHT21 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RJHT21 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RJKROT Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-RJKROT Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-RJMG9T Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RJMQPP Noonan syndrome LD2F.15 Orphanet 648 TPD-RJMQPP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RJMQPP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RJMQPP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RJMQPP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RJMQPP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RJMQPP Lynch syndrome 2B90.Y Orphanet 144 TPD-RJMQPP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RJMQPP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RJMYFB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RJMYFB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RJMYFB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RJMYFB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RJPJBX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RJPJBX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RJPJBX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RJRAHL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RJRAHL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RJRAHL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RJRAHL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RJTBJO Kennedy disease 8B61.4 Orphanet 481 TPD-RJTBJO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RJTBJO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RJTBJO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RJX2FC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RJX2FC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RJXAY0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RJYUJU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RJYUJU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RJYUJU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RJYUJU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RK06CO Noonan syndrome LD2F.15 Orphanet 648 TPD-RK06CO Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RK2WQQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RK44IX Kennedy disease 8B61.4 Orphanet 481 TPD-RK44IX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RK44IX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RK44IX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RK5HQF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RK77F3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RK77F3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RK77F3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RK7LYK Kennedy disease 8B61.4 Orphanet 481 TPD-RK7LYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RK7LYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RK7LYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RK9BGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-RK9BGZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RK9BGZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RK9BGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RK9BGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RK9BGZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RK9BGZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RK9BGZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RK9BGZ Craniopharyngioma 2F9A Orphanet 54595 TPD-RK9BGZ Cushing disease 5A70.0 Orphanet 96253 TPD-RKMCWG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RKOYRY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RKOYRY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RKOYRY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RKR5K7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RKR5K7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RKRPV2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RKRPV2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RKUFZQ Kennedy disease 8B61.4 Orphanet 481 TPD-RKUFZQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RKUFZQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RKUFZQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RKV9WS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RKV9WS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RKYXRH Kennedy disease 8B61.4 Orphanet 481 TPD-RKYXRH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RKYXRH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RKYXRH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RL162Y Familial melanoma QC61.Y Orphanet 618 TPD-RL162Y Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RL1I39 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RL1I39 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RL1I39 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RL1SVY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RL1SVY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RL36MN Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-RL4LU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-RL4LU1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RL4LU1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RL4LU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RL4LU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RL4LU1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RL4LU1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RL4LU1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RL4LU1 Craniopharyngioma 2F9A Orphanet 54595 TPD-RL4LU1 Cushing disease 5A70.0 Orphanet 96253 TPD-RLAI2B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RLAI2B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RLAI2B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RLAI2B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RLBRXG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RLBRXG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RLBRXG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RLC8CR Familial melanoma QC61.Y Orphanet 618 TPD-RLC8CR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RLCHRF Kennedy disease 8B61.4 Orphanet 481 TPD-RLCHRF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RLCHRF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RLCHRF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RLFMT1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RLG75K Familial melanoma QC61.Y Orphanet 618 TPD-RLG75K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RLN7ZR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RLNUHD Kennedy disease 8B61.4 Orphanet 481 TPD-RLNUHD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RLNUHD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RLNUHD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RLNYIK Isolated focal cortical dysplasia type IIb LA05.51 Orphanet 269008 TPD-RLNYIK Isolated focal cortical dysplasia type IIa LA05.51 Orphanet 269001 TPD-RLNYIK Hemimegalencephaly LA05.1 Orphanet 99802 TPD-RLP0EJ Kennedy disease 8B61.4 Orphanet 481 TPD-RLP0EJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RLP0EJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RLP0EJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RLQAM4 Familial melanoma QC61.Y Orphanet 618 TPD-RLQAM4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RLQHR3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RLQHR3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RLQHR3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RLR08X Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RLR08X Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RLR08X B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RLR08X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RLR8JN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RLR8JN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RLS0YU Weaver syndrome LD2C Orphanet 3447 TPD-RLSV1X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RLSV1X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RLSV1X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RLVYIQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RLXESR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RLXESR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RLXESR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RM1C08 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RM1C08 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RM1C08 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RM1C08 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RM5CP7 Noonan syndrome LD2F.15 Orphanet 648 TPD-RM5CP7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RM5CP7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RM5CP7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RM5CP7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RM5CP7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RM5CP7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RM5CP7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RM5CP7 Craniopharyngioma 2F9A Orphanet 54595 TPD-RM5CP7 Cushing disease 5A70.0 Orphanet 96253 TPD-RM5J4Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RM5J4Y Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RM6WYZ Familial melanoma QC61.Y Orphanet 618 TPD-RM7QCH Kennedy disease 8B61.4 Orphanet 481 TPD-RM7QCH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RM7QCH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RM7QCH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RM9KC8 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RM9KC8 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RM9KC8 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RM9LF2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RM9LF2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RM9LF2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RMD1J0 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-RMD1J0 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-RMD1J0 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-RMD1J0 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-RMD1J0 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-RMD1J0 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-RMD1J0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RMD1J0 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-RMD1J0 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RMEI74 Kennedy disease 8B61.4 Orphanet 481 TPD-RMEI74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RMEI74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RMEI74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RMH490 Achondroplasia LD24.00 Orphanet 15 TPD-RMH490 Hypochondroplasia LD24.01 Orphanet 429 TPD-RMH490 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-RMH490 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-RMH490 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-RMH490 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RMH490 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RMH490 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-RMH490 Muenke syndrome LD24.GY Orphanet 53271 TPD-RMH490 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-RMH490 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-RMH490 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-RMKPWK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RMKT61 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RMKT61 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RML06U Kennedy disease 8B61.4 Orphanet 481 TPD-RML06U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RML06U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RML06U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RMTKPT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RMTKPT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RMVWLM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RN2ALH Kennedy disease 8B61.4 Orphanet 481 TPD-RN2ALH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RN2ALH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RN2ALH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RN3U6Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RN3U6Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RN3U6Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RN56GO Noonan syndrome LD2F.15 Orphanet 648 TPD-RN56GO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RN56GO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RN56GO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RN56GO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RN56GO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RN56GO Lynch syndrome 2B90.Y Orphanet 144 TPD-RN56GO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RN56GO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RN6JQW Noonan syndrome LD2F.15 Orphanet 648 TPD-RN6JQW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RN6JQW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RN6JQW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RN6JQW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RN6JQW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RN6JQW Lynch syndrome 2B90.Y Orphanet 144 TPD-RN6JQW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RN6JQW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RN7UE3 Kennedy disease 8B61.4 Orphanet 481 TPD-RN7UE3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RN7UE3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RN7UE3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RN9YAP Kennedy disease 8B61.4 Orphanet 481 TPD-RN9YAP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RN9YAP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RN9YAP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RNA6C5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-RNCG1U Noonan syndrome LD2F.15 Orphanet 648 TPD-RNCG1U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RNCG1U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RNCG1U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RNCG1U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RNCG1U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RNCG1U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RNCG1U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RNCG1U Craniopharyngioma 2F9A Orphanet 54595 TPD-RNCG1U Cushing disease 5A70.0 Orphanet 96253 TPD-RNHH7T Kennedy disease 8B61.4 Orphanet 481 TPD-RNHH7T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RNHH7T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RNHH7T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RNJJOU Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-RNJJOU Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-RNLTAV Kennedy disease 8B61.4 Orphanet 481 TPD-RNLTAV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RNLTAV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RNLTAV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RNRC80 Kennedy disease 8B61.4 Orphanet 481 TPD-RNRC80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RNRC80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RNRC80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RNVL9X Kennedy disease 8B61.4 Orphanet 481 TPD-RNVL9X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RNVL9X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RNVL9X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RNZ9CV Noonan syndrome LD2F.15 Orphanet 648 TPD-RNZ9CV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RNZ9CV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RNZ9CV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RNZ9CV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RNZ9CV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RNZ9CV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RNZ9CV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RNZ9CV Craniopharyngioma 2F9A Orphanet 54595 TPD-RNZ9CV Cushing disease 5A70.0 Orphanet 96253 TPD-RNZWLE Noonan syndrome LD2F.15 Orphanet 648 TPD-RNZWLE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RNZWLE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RNZWLE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RNZWLE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RNZWLE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RNZWLE Lynch syndrome 2B90.Y Orphanet 144 TPD-RNZWLE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RNZWLE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RO0JRL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ROANM5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ROANM5 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RODNPI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RODNPI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RODNPI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ROF4ID CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ROFM7D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ROFM7D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ROFM7D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ROFM7D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ROG0GJ Kennedy disease 8B61.4 Orphanet 481 TPD-ROG0GJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ROG0GJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ROG0GJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ROJWC3 Noonan syndrome LD2F.15 Orphanet 648 TPD-ROJWC3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ROJWC3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ROJWC3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ROJWC3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ROJWC3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ROJWC3 Lynch syndrome 2B90.Y Orphanet 144 TPD-ROJWC3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ROJWC3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RON2FC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RON2FC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RON2FC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RON8H2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RON8H2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RON8H2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ROOQ03 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ROPLSM Kennedy disease 8B61.4 Orphanet 481 TPD-ROPLSM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ROPLSM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ROPLSM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ROQUZ3 Kennedy disease 8B61.4 Orphanet 481 TPD-ROQUZ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ROQUZ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ROQUZ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ROQWNJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ROQWNJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ROQWNJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ROR2JO Familial melanoma QC61.Y Orphanet 618 TPD-ROR2JO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ROR5T4 Noonan syndrome LD2F.15 Orphanet 648 TPD-ROR5T4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ROR5T4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ROR5T4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ROR5T4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ROR5T4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ROR5T4 Lynch syndrome 2B90.Y Orphanet 144 TPD-ROR5T4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ROR5T4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ROT19H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ROT19H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ROVPHS Kennedy disease 8B61.4 Orphanet 481 TPD-ROVPHS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ROVPHS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ROVPHS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RP2H1I Noonan syndrome LD2F.15 Orphanet 648 TPD-RP2H1I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RP2H1I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RP2H1I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RP2H1I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RP2H1I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RP2H1I Lynch syndrome 2B90.Y Orphanet 144 TPD-RP2H1I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RP2H1I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RP4SK9 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-RP4SK9 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-RP4SK9 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-RP726D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RP74CV Familial melanoma QC61.Y Orphanet 618 TPD-RP74CV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RP7Y7Q Kennedy disease 8B61.4 Orphanet 481 TPD-RP7Y7Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RP7Y7Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RP7Y7Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RP8O0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-RP8O0Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RP8O0Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RP8O0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RP8O0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RP8O0Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RP8O0Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RP8O0Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RP8O0Z Craniopharyngioma 2F9A Orphanet 54595 TPD-RP8O0Z Cushing disease 5A70.0 Orphanet 96253 TPD-RPAIFS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RPAIFS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RPBM5N Noonan syndrome LD2F.15 Orphanet 648 TPD-RPBM5N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RPBM5N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RPBM5N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RPBM5N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RPBM5N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RPBM5N Lynch syndrome 2B90.Y Orphanet 144 TPD-RPBM5N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RPBM5N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RPBZ5Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RPC0EA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RPC0EA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RPDL2T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RPDL2T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RPDL2T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RPGJQN Noonan syndrome LD2F.15 Orphanet 648 TPD-RPGJQN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RPJO2Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RPJO2Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RPJTOK Noonan syndrome LD2F.15 Orphanet 648 TPD-RPJTOK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RPJTOK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RPJTOK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RPJTOK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RPJTOK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RPJTOK Lynch syndrome 2B90.Y Orphanet 144 TPD-RPJTOK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RPJTOK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RPL51S X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RPL51S Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RPOR54 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RPOR54 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RPPS9O Familial melanoma QC61.Y Orphanet 618 TPD-RPPS9O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RPQUQC Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-RPT90G Kennedy disease 8B61.4 Orphanet 481 TPD-RPT90G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RPT90G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RPT90G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RPW7BI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RPXP9U Kennedy disease 8B61.4 Orphanet 481 TPD-RPXP9U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RPXP9U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RPXP9U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RQ2A63 Noonan syndrome LD2F.15 Orphanet 648 TPD-RQ2A63 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RQ2A63 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RQ2A63 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RQ2A63 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RQ2A63 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RQ2A63 Lynch syndrome 2B90.Y Orphanet 144 TPD-RQ2A63 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RQ2A63 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RQ2QX1 Familial melanoma QC61.Y Orphanet 618 TPD-RQ2QX1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RQ7U7F Kennedy disease 8B61.4 Orphanet 481 TPD-RQ7U7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RQ7U7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RQ7U7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RQ9QZK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RQ9QZK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RQ9QZK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RQHOTZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RQK7SR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RQOG46 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RQRTG3 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-RQUO1D Kennedy disease 8B61.4 Orphanet 481 TPD-RQUO1D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RQUO1D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RQUO1D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RQV398 Familial melanoma QC61.Y Orphanet 618 TPD-RQV398 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RQWILK Noonan syndrome LD2F.15 Orphanet 648 TPD-RQWILK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RQWILK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RQWILK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RQWILK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RQWILK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RQWILK Lynch syndrome 2B90.Y Orphanet 144 TPD-RQWILK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RQWILK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RQXBKS Familial melanoma QC61.Y Orphanet 618 TPD-RQXBKS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RQZLCF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RQZLCF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RQZLCF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RR0CEQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RR0CEQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RR0CEQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RR0X9K Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RR1DMR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RR36FH Kennedy disease 8B61.4 Orphanet 481 TPD-RR36FH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RR36FH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RR36FH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RR6S2D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RR6S2D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RR7JXM Kennedy disease 8B61.4 Orphanet 481 TPD-RR7JXM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RR7JXM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RR7JXM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RR8KXQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RRGYKX Kennedy disease 8B61.4 Orphanet 481 TPD-RRGYKX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RRGYKX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RRGYKX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RRLCEN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RRLCEN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RROGMK Kennedy disease 8B61.4 Orphanet 481 TPD-RROGMK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RROGMK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RROGMK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RRONRY Noonan syndrome LD2F.15 Orphanet 648 TPD-RRONRY Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RRQHFN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RRQHFN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RRQHFN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RRQHFN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RRT1AU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RRT1AU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RRT1AU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RRT1AU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RRU054 Huntington disease 8A01.10 Orphanet 399 TPD-RRW38K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RRW38K Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RRW38K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RS0CPY Kennedy disease 8B61.4 Orphanet 481 TPD-RS0CPY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RS0CPY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RS0CPY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RS4QU9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RS59WR Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-RS59WR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RS59WR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RS59WR Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-RS59WR Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-RS59WR Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-RS59WR Osteosarcoma 2B51 Orphanet 668 TPD-RS59WR Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-RS59WR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RS59WR Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-RS59WR Small cell lung cancer 2C25.1 Orphanet 70573 TPD-RS59WR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RS59WR Cushing disease 5A70.0 Orphanet 96253 TPD-RS59WR Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-RS59WR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RS6P3O Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-RS6P3O Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-RS6P3O Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-RS6P3O Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-RS6P3O Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-RS6P3O Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-RS6P3O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RS6P3O Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-RS6P3O Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RS8AFQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-RSAR3A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RSAR3A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RSAR3A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RSB02N CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RSBBAF Familial melanoma QC61.Y Orphanet 618 TPD-RSBBAF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RSC3HF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RSCIHI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RSCIHI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RSCY5A Kennedy disease 8B61.4 Orphanet 481 TPD-RSCY5A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RSCY5A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RSCY5A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RSDSK1 Familial melanoma QC61.Y Orphanet 618 TPD-RSDSK1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RSHO7A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RSHO7A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RSNXU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-RSNXU1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RSNXU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RSNXU1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RSNXU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RSNXU1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RSNXU1 Lynch syndrome 2B90.Y Orphanet 144 TPD-RSNXU1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RSNXU1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RSTHXY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RSY1ZG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RSY1ZG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RSY1ZG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RT0HGF Kennedy disease 8B61.4 Orphanet 481 TPD-RT0HGF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RT0HGF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RT0HGF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RT1FFS Noonan syndrome LD2F.15 Orphanet 648 TPD-RT1FFS Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RT93IW Kennedy disease 8B61.4 Orphanet 481 TPD-RT93IW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RT93IW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RT93IW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RT9CEF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RTAFPJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RTAFPJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RTAFPJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RTAFPJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RTDJH1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RTDJH1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RTDJH1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RTGA3H Kennedy disease 8B61.4 Orphanet 481 TPD-RTGA3H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RTGA3H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RTGA3H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RTIX8Y Noonan syndrome LD2F.15 Orphanet 648 TPD-RTIX8Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RTIX8Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RTIX8Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RTIX8Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RTIX8Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RTIX8Y Lynch syndrome 2B90.Y Orphanet 144 TPD-RTIX8Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RTIX8Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RTJLTV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RTJLTV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RTJLTV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RTJLTV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RTPWPC Noonan syndrome LD2F.15 Orphanet 648 TPD-RTPWPC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RTPWPC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RTPWPC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RTPWPC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RTPWPC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RTPWPC Lynch syndrome 2B90.Y Orphanet 144 TPD-RTPWPC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RTPWPC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RTQCC8 Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-RTYIA4 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-RTYIA4 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-RTYIA4 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-RTYIA4 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-RTYIA4 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-RTYIA4 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-RTYIA4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RTYIA4 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-RTYIA4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RU2770 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RU80F8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RU80F8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RU80F8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RU88BO Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-RU8DRI Noonan syndrome LD2F.15 Orphanet 648 TPD-RU8DRI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RU8DRI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RU8DRI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RU8DRI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RU8DRI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RU8DRI Lynch syndrome 2B90.Y Orphanet 144 TPD-RU8DRI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RU8DRI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RUAH9S Noonan syndrome LD2F.15 Orphanet 648 TPD-RUAH9S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RUAH9S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RUAH9S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RUAH9S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RUAH9S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RUAH9S Lynch syndrome 2B90.Y Orphanet 144 TPD-RUAH9S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RUAH9S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RUKK2C Kennedy disease 8B61.4 Orphanet 481 TPD-RUKK2C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RUKK2C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RUKK2C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RUKV16 Noonan syndrome LD2F.15 Orphanet 648 TPD-RUKV16 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RUKV16 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RUKV16 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RUKV16 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RUKV16 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RUKV16 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RUKV16 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RUKV16 Craniopharyngioma 2F9A Orphanet 54595 TPD-RUKV16 Cushing disease 5A70.0 Orphanet 96253 TPD-RUN2N4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RUPS5D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RUPS5D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RUPS5D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RUQ9F0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RUQ9F0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RUQ9F0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RUR60M Familial melanoma QC61.Y Orphanet 618 TPD-RUR60M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RUVTG7 Kennedy disease 8B61.4 Orphanet 481 TPD-RUVTG7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RUVTG7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RUVTG7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RUY1BO Noonan syndrome LD2F.15 Orphanet 648 TPD-RUY1BO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RUY1BO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RUY1BO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RUY1BO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RUY1BO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RUY1BO Lynch syndrome 2B90.Y Orphanet 144 TPD-RUY1BO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RUY1BO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RV80FN Kennedy disease 8B61.4 Orphanet 481 TPD-RV80FN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RV80FN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RV80FN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RV9HWJ Kennedy disease 8B61.4 Orphanet 481 TPD-RV9HWJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RV9HWJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RV9HWJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RVATEU Familial melanoma QC61.Y Orphanet 618 TPD-RVCMNF Kennedy disease 8B61.4 Orphanet 481 TPD-RVCMNF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RVCMNF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RVCMNF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RVGLRQ Noonan syndrome LD2F.15 Orphanet 648 TPD-RVGLRQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RVGLRQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RVGLRQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RVGLRQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RVGLRQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RVGLRQ Lynch syndrome 2B90.Y Orphanet 144 TPD-RVGLRQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RVGLRQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RVHMUN Noonan syndrome LD2F.15 Orphanet 648 TPD-RVHMUN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RVHMUN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RVHMUN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RVHMUN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RVHMUN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RVHMUN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RVHMUN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RVHMUN Craniopharyngioma 2F9A Orphanet 54595 TPD-RVHMUN Cushing disease 5A70.0 Orphanet 96253 TPD-RVIU8U Familial melanoma QC61.Y Orphanet 618 TPD-RVIU8U Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RVJXY2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RVPKL5 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-RVRDM1 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-RVS501 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RVS501 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RVS5JB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RVUCQF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RVULNA Kennedy disease 8B61.4 Orphanet 481 TPD-RVULNA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RVULNA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RVULNA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RVWUTR Kennedy disease 8B61.4 Orphanet 481 TPD-RVWUTR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RVWUTR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RVWUTR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RVXXKE Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-RVZVZO Noonan syndrome LD2F.15 Orphanet 648 TPD-RVZVZO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RVZVZO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RVZVZO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RVZVZO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RVZVZO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RVZVZO Lynch syndrome 2B90.Y Orphanet 144 TPD-RVZVZO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RVZVZO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RW1AEN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RW1AEN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-RW225X Familial melanoma QC61.Y Orphanet 618 TPD-RW225X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RW8GVQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RW8GVQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RW8GVQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RWF9EE Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RWF9EE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RWJ0JU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-RWKBRW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RWKBRW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RWKBRW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RWKBRW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RWNHP5 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-RWNHP5 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-RWNHP5 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-RWNHP5 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-RWNHP5 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-RWNHP5 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-RWNHP5 Semantic dementia 6D83 Orphanet 100069 TPD-RWNHP5 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-RWNK89 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RWNK89 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RWNR22 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RWNR22 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RWNR22 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RWPFA2 Kennedy disease 8B61.4 Orphanet 481 TPD-RWPFA2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RWPFA2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RWPFA2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RWUJWO Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-RWX9XZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RX06NR Noonan syndrome LD2F.15 Orphanet 648 TPD-RX06NR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RX06NR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RX06NR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RX06NR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RX06NR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RX06NR Lynch syndrome 2B90.Y Orphanet 144 TPD-RX06NR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RX06NR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RX11GO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RX11GO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RX11GO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RX11GO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RX2E0O Kennedy disease 8B61.4 Orphanet 481 TPD-RX2E0O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RX2E0O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RX2E0O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RX2S0P Kennedy disease 8B61.4 Orphanet 481 TPD-RX2S0P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RX2S0P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RX2S0P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RX3K0U Noonan syndrome LD2F.15 Orphanet 648 TPD-RX3K0U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RX3K0U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RX3K0U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RX3K0U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RX3K0U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RX3K0U Lynch syndrome 2B90.Y Orphanet 144 TPD-RX3K0U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RX3K0U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RX4O5L Noonan syndrome LD2F.15 Orphanet 648 TPD-RX4O5L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RX4O5L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RX4O5L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RX4O5L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RX4O5L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RX4O5L Lynch syndrome 2B90.Y Orphanet 144 TPD-RX4O5L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RX4O5L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RX5VOP Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-RXAUAF Noonan syndrome LD2F.15 Orphanet 648 TPD-RXAUAF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RXAUAF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RXAUAF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RXAUAF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RXAUAF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RXAUAF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RXAUAF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RXAUAF Craniopharyngioma 2F9A Orphanet 54595 TPD-RXAUAF Cushing disease 5A70.0 Orphanet 96253 TPD-RXDF3C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RXDF3C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RXDF3C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RXDVKA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RXDVKA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-RXDVKA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RXE0LE Familial melanoma QC61.Y Orphanet 618 TPD-RXE0LE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RXE289 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RXE289 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RXFZPW Noonan syndrome LD2F.15 Orphanet 648 TPD-RXFZPW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RXFZPW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RXFZPW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RXFZPW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RXFZPW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RXFZPW Lynch syndrome 2B90.Y Orphanet 144 TPD-RXFZPW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RXFZPW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RXG75T Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-RXIA83 Noonan syndrome LD2F.15 Orphanet 648 TPD-RXIA83 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RXK4C4 Familial melanoma QC61.Y Orphanet 618 TPD-RXK4C4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RXPDVO Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-RXTXG7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RXTXG7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RXTXG7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RXVNWL Noonan syndrome LD2F.15 Orphanet 648 TPD-RXVNWL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RXVNWL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RXVNWL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RXVNWL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RXVNWL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RXVNWL Lynch syndrome 2B90.Y Orphanet 144 TPD-RXVNWL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RXVNWL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RXWYIM Noonan syndrome LD2F.15 Orphanet 648 TPD-RXWYIM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RXWYIM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RXWYIM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RXWYIM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RXWYIM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RXWYIM Lynch syndrome 2B90.Y Orphanet 144 TPD-RXWYIM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RXWYIM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RXZKTG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RXZKTG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RY0YMZ Noonan syndrome LD2F.15 Orphanet 648 TPD-RY0YMZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RY0YMZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RY0YMZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RY0YMZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RY0YMZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RY0YMZ Lynch syndrome 2B90.Y Orphanet 144 TPD-RY0YMZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RY0YMZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RY2B2C Kennedy disease 8B61.4 Orphanet 481 TPD-RY2B2C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RY2B2C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RY2B2C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RY2ZMG Noonan syndrome LD2F.15 Orphanet 648 TPD-RY2ZMG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RY2ZMG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RY2ZMG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RY2ZMG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RY2ZMG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RY2ZMG Lynch syndrome 2B90.Y Orphanet 144 TPD-RY2ZMG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RY2ZMG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RY8WUI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RY9AHV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RYAZXK Kennedy disease 8B61.4 Orphanet 481 TPD-RYAZXK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RYAZXK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RYAZXK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RYDMXD Noonan syndrome LD2F.15 Orphanet 648 TPD-RYDMXD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RYDMXD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RYDMXD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RYDMXD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RYDMXD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RYDMXD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RYDMXD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RYDMXD Craniopharyngioma 2F9A Orphanet 54595 TPD-RYDMXD Cushing disease 5A70.0 Orphanet 96253 TPD-RYEHEI Familial melanoma QC61.Y Orphanet 618 TPD-RYEHEI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RYOFYQ Kennedy disease 8B61.4 Orphanet 481 TPD-RYOFYQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RYOFYQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RYOFYQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RYOPOU Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RYOPOU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RYOPOU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-RYPIXI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RYPIXI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RYPIXI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RYPV9T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-RYPV9T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-RYPV9T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-RYPV9T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-RYQYHI Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RYQYHI Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RYRYJ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-RYRYJ6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-RYRYJ6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-RYRYJ6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RYRYJ6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RYRYJ6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-RYRYJ6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-RYRYJ6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-RYRYJ6 Craniopharyngioma 2F9A Orphanet 54595 TPD-RYRYJ6 Cushing disease 5A70.0 Orphanet 96253 TPD-RYS0IT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RYS0YC Kennedy disease 8B61.4 Orphanet 481 TPD-RYS0YC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RYS0YC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RYS0YC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RYS484 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RYS484 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RYUMQE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-RYXC7W Kennedy disease 8B61.4 Orphanet 481 TPD-RYXC7W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RYXC7W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RYXC7W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RYYT6N Familial melanoma QC61.Y Orphanet 618 TPD-RYYT6N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-RZ116C Burkitt lymphoma XH4KA9 Orphanet 543 TPD-RZ116C Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-RZ1X2D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RZ1X2D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RZ25IV Noonan syndrome LD2F.15 Orphanet 648 TPD-RZ25IV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RZ25IV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RZ25IV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RZ25IV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RZ25IV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RZ25IV Lynch syndrome 2B90.Y Orphanet 144 TPD-RZ25IV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RZ25IV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RZ36A0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RZ36A0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RZ5A9D Noonan syndrome LD2F.15 Orphanet 648 TPD-RZ5A9D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RZ5A9D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RZ5A9D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RZ5A9D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RZ5A9D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RZ5A9D Lynch syndrome 2B90.Y Orphanet 144 TPD-RZ5A9D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RZ5A9D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RZA5NK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-RZA5NK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-RZA5NK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-RZFSVG Noonan syndrome LD2F.15 Orphanet 648 TPD-RZFSVG Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-RZH13A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-RZH13A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-RZHR9W Kennedy disease 8B61.4 Orphanet 481 TPD-RZHR9W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RZHR9W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RZHR9W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RZKDC2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-RZLI6W Kennedy disease 8B61.4 Orphanet 481 TPD-RZLI6W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RZLI6W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RZLI6W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RZM4T4 Weaver syndrome LD2C Orphanet 3447 TPD-RZNKOH Noonan syndrome LD2F.15 Orphanet 648 TPD-RZNKOH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-RZNKOH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-RZNKOH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-RZNKOH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-RZNKOH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-RZNKOH Lynch syndrome 2B90.Y Orphanet 144 TPD-RZNKOH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-RZNKOH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-RZP9DD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RZP9DD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-RZSP3F Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-RZWEUR Kennedy disease 8B61.4 Orphanet 481 TPD-RZWEUR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-RZWEUR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-RZWEUR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-RZXMD0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-RZXMD0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S00CJZ Noonan syndrome LD2F.15 Orphanet 648 TPD-S00CJZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S00CJZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S00CJZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S00CJZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S00CJZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S00CJZ Lynch syndrome 2B90.Y Orphanet 144 TPD-S00CJZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S00CJZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S02GRI Noonan syndrome LD2F.15 Orphanet 648 TPD-S02GRI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S02GRI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S02GRI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S02GRI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S02GRI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S02GRI Lynch syndrome 2B90.Y Orphanet 144 TPD-S02GRI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S02GRI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S02VAK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S03JVN Familial melanoma QC61.Y Orphanet 618 TPD-S07S74 Kennedy disease 8B61.4 Orphanet 481 TPD-S07S74 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S07S74 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S07S74 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S088PO Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-S088PO Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-S088PO Primary myelofibrosis 2A20.2 Orphanet 824 TPD-S088PO Polycythemia vera 2A20.4 Orphanet 729 TPD-S088PO Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-S088PO Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-S088PO T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-S08V7F Kennedy disease 8B61.4 Orphanet 481 TPD-S08V7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S08V7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S08V7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S0CW8L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S0CW8L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-S0CW8L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S0DPLP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S0DPLP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S0EH0C Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-S0FHNY Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-S0FHNY CINCA syndrome 4A60.1 Orphanet 1451 TPD-S0FHNY Familial cold urticaria 4A60.1 Orphanet 47045 TPD-S0HEBM Kennedy disease 8B61.4 Orphanet 481 TPD-S0HEBM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S0HEBM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S0HEBM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S0ICTU Kennedy disease 8B61.4 Orphanet 481 TPD-S0ICTU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S0ICTU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S0ICTU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S0J9YX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S0J9YX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S0KRKX Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-S0LNEY Familial melanoma QC61.Y Orphanet 618 TPD-S0LNEY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S0OMH5 Noonan syndrome LD2F.15 Orphanet 648 TPD-S0OMH5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S0OMH5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S0OMH5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S0OMH5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S0OMH5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S0OMH5 Lynch syndrome 2B90.Y Orphanet 144 TPD-S0OMH5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S0OMH5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S0UAJK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-S0UARM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-S0UARM Wilson-Turner syndrome LD29 Orphanet 3459 TPD-S0XE43 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S10LPT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S10LPT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S10LPT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S11FIM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S11UYX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S11UYX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S12XZL Noonan syndrome LD2F.15 Orphanet 648 TPD-S12XZL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S12XZL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S12XZL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S12XZL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S12XZL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S12XZL Lynch syndrome 2B90.Y Orphanet 144 TPD-S12XZL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S12XZL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S15SUM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S15SUM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S1755A Noonan syndrome LD2F.15 Orphanet 648 TPD-S1755A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S1755A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1755A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S1755A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1755A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S1755A Lynch syndrome 2B90.Y Orphanet 144 TPD-S1755A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1755A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S19E1B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S19E1B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S19E1B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S19E1B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S1B05E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S1C4TO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S1C4TO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S1CXT9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S1CXT9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S1CXT9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S1D894 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-S1D894 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S1D894 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S1D894 Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-S1D894 Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-S1D894 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-S1D894 Osteosarcoma 2B51 Orphanet 668 TPD-S1D894 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-S1D894 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1D894 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-S1D894 Small cell lung cancer 2C25.1 Orphanet 70573 TPD-S1D894 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S1D894 Cushing disease 5A70.0 Orphanet 96253 TPD-S1D894 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-S1D894 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S1EFYB Noonan syndrome LD2F.15 Orphanet 648 TPD-S1EFYB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S1EFYB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1EFYB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S1EFYB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1EFYB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S1EFYB Lynch syndrome 2B90.Y Orphanet 144 TPD-S1EFYB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1EFYB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S1G2OE Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-S1G2OE Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-S1G2OE Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-S1G2OE Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-S1G2OE Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-S1G2OE Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-S1G2OE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S1G2OE Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-S1G2OE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-S1G8L0 Kennedy disease 8B61.4 Orphanet 481 TPD-S1G8L0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S1G8L0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S1G8L0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S1JNDC Noonan syndrome LD2F.15 Orphanet 648 TPD-S1JNDC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S1JNDC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1JNDC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S1JNDC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1JNDC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S1JNDC Lynch syndrome 2B90.Y Orphanet 144 TPD-S1JNDC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1JNDC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S1JQE4 Familial melanoma QC61.Y Orphanet 618 TPD-S1JQE4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S1L2VL Noonan syndrome LD2F.15 Orphanet 648 TPD-S1L2VL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S1L2VL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S1L2VL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1L2VL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1L2VL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S1L2VL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S1L2VL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S1L2VL Craniopharyngioma 2F9A Orphanet 54595 TPD-S1L2VL Cushing disease 5A70.0 Orphanet 96253 TPD-S1LWG0 Noonan syndrome LD2F.15 Orphanet 648 TPD-S1LWG0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S1LWG0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1LWG0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S1LWG0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1LWG0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S1LWG0 Lynch syndrome 2B90.Y Orphanet 144 TPD-S1LWG0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1LWG0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S1MRBK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-S1TIRT Noonan syndrome LD2F.15 Orphanet 648 TPD-S1TIRT Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-S1UTQI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S1UVHC Noonan syndrome LD2F.15 Orphanet 648 TPD-S1UVHC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S1UVHC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S1UVHC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S1UVHC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S1UVHC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S1UVHC Lynch syndrome 2B90.Y Orphanet 144 TPD-S1UVHC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S1UVHC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S1VBGN Kennedy disease 8B61.4 Orphanet 481 TPD-S1VBGN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S1VBGN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S1VBGN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S1VUQB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S1VUQB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S1VUQB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S1VUQB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S204LM Weaver syndrome LD2C Orphanet 3447 TPD-S21ES9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S21ES9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S22I9T Osteogenesis imperfecta type 3 LD24.K0 Orphanet 216812 TPD-S243FS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S245BX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S25OK6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S25OK6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S25ONW Familial melanoma QC61.Y Orphanet 618 TPD-S25ONW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S26H10 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S26H10 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S26H10 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S2CRHU Kennedy disease 8B61.4 Orphanet 481 TPD-S2CRHU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S2CRHU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S2CRHU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S2FTJC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S2FTJC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S2FTJC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S2FTJC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S2GIYM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S2GIYM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S2HCN9 Familial melanoma QC61.Y Orphanet 618 TPD-S2HCN9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S2I4AZ Noonan syndrome LD2F.15 Orphanet 648 TPD-S2I4AZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S2I4AZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S2I4AZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S2I4AZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S2I4AZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S2I4AZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S2I4AZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S2I4AZ Craniopharyngioma 2F9A Orphanet 54595 TPD-S2I4AZ Cushing disease 5A70.0 Orphanet 96253 TPD-S2IU4D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S2LDL3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S2LDL3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S2LDL3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S2LDL3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S2LQ78 Noonan syndrome LD2F.15 Orphanet 648 TPD-S2LQ78 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S2LQ78 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S2LQ78 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S2LQ78 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S2LQ78 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S2LQ78 Lynch syndrome 2B90.Y Orphanet 144 TPD-S2LQ78 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S2LQ78 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S2NTJ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-S2NTJ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S2NTJ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S2NTJ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S2NTJ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S2NTJ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S2NTJ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-S2NTJ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S2NTJ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S2RV6J Burkitt lymphoma XH4KA9 Orphanet 543 TPD-S2RV6J Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-S2RV6J Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-S2SE3E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S2SE3E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S2SE3E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S2XHYH Noonan syndrome LD2F.15 Orphanet 648 TPD-S2XHYH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S2XHYH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S2XHYH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S2XHYH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S2XHYH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S2XHYH Lynch syndrome 2B90.Y Orphanet 144 TPD-S2XHYH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S2XHYH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S30715 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-S30715 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-S30715 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-S30715 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-S30715 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-S30715 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-S30715 Semantic dementia 6D83 Orphanet 100069 TPD-S30715 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-S30KQ9 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-S32N5V Noonan syndrome LD2F.15 Orphanet 648 TPD-S32N5V Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S32N5V Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S32N5V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S32N5V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S32N5V Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S32N5V Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S32N5V Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S32N5V Craniopharyngioma 2F9A Orphanet 54595 TPD-S32N5V Cushing disease 5A70.0 Orphanet 96253 TPD-S34724 Noonan syndrome LD2F.15 Orphanet 648 TPD-S34724 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S34724 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S34724 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S34724 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S34724 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S34724 Lynch syndrome 2B90.Y Orphanet 144 TPD-S34724 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S34724 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S34GUU Noonan syndrome LD2F.15 Orphanet 648 TPD-S34GUU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S34GUU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S34GUU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S34GUU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S34GUU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S34GUU Lynch syndrome 2B90.Y Orphanet 144 TPD-S34GUU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S34GUU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S36OZ5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-S38LCC Kennedy disease 8B61.4 Orphanet 481 TPD-S38LCC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S38LCC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S38LCC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S39XQQ Familial melanoma QC61.Y Orphanet 618 TPD-S39XQQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S3BX57 Kennedy disease 8B61.4 Orphanet 481 TPD-S3BX57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S3BX57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S3BX57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S3G434 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S3GCQT Noonan syndrome LD2F.15 Orphanet 648 TPD-S3GCQT Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S3GCQT Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S3GCQT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S3GCQT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S3GCQT Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S3GCQT Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S3GCQT Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S3GCQT Craniopharyngioma 2F9A Orphanet 54595 TPD-S3GCQT Cushing disease 5A70.0 Orphanet 96253 TPD-S3H9JB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S3H9JB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S3H9JB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S3HH0Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S3HH0Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S3HN9Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S3HN9Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S3HN9Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S3JG04 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-S3JG04 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-S3JG04 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-S3JG04 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-S3JG04 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-S3JG04 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-S3JG04 Semantic dementia 6D83 Orphanet 100069 TPD-S3JG04 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-S3K1WZ Kennedy disease 8B61.4 Orphanet 481 TPD-S3K1WZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S3K1WZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S3K1WZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S3KCT7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S3ND5T Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-S3ND5T Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-S3NI0S Noonan syndrome LD2F.15 Orphanet 648 TPD-S3NI0S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S3NI0S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S3NI0S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S3NI0S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S3NI0S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S3NI0S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S3NI0S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S3NI0S Craniopharyngioma 2F9A Orphanet 54595 TPD-S3NI0S Cushing disease 5A70.0 Orphanet 96253 TPD-S3O77P Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S3RVVT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S3SLNB Retinitis pigmentosa 9B70 Orphanet 791 TPD-S3TFZS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S3VT3N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S3VT3N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S3VT3N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S3VT3N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S3XPC9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S3XPC9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S3XPC9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S42Y31 Noonan syndrome LD2F.15 Orphanet 648 TPD-S42Y31 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S42Y31 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S42Y31 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S42Y31 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S42Y31 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S42Y31 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S42Y31 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S42Y31 Craniopharyngioma 2F9A Orphanet 54595 TPD-S42Y31 Cushing disease 5A70.0 Orphanet 96253 TPD-S46ZHD Kennedy disease 8B61.4 Orphanet 481 TPD-S46ZHD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S46ZHD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S46ZHD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S479CS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S49R77 Noonan syndrome LD2F.15 Orphanet 648 TPD-S49R77 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S49R77 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S49R77 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S49R77 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S49R77 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S49R77 Lynch syndrome 2B90.Y Orphanet 144 TPD-S49R77 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S49R77 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S4A71I CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-S4LSEY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S4P7QI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S4P7QI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S4P839 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S4RJSY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S4RJSY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S4RJSY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S4RJSY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S4ROO7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S4ROO7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S4WV09 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S4WV09 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S4WV09 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S4WV09 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S4ZQ6F Noonan syndrome LD2F.15 Orphanet 648 TPD-S4ZQ6F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S4ZQ6F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S4ZQ6F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S4ZQ6F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S4ZQ6F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S4ZQ6F Lynch syndrome 2B90.Y Orphanet 144 TPD-S4ZQ6F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S4ZQ6F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S50RRD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S50RRD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S50RRD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S55QZV Noonan syndrome LD2F.15 Orphanet 648 TPD-S55QZV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S55QZV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S55QZV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S55QZV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S55QZV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S55QZV Lynch syndrome 2B90.Y Orphanet 144 TPD-S55QZV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S55QZV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S56MHZ Familial melanoma QC61.Y Orphanet 618 TPD-S56MHZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S57YBU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S57YBU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-S57YBU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S59M05 Familial melanoma QC61.Y Orphanet 618 TPD-S59M05 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S59N05 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S59N05 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S59N05 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S5D221 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S5D3DQ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-S5D3DQ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-S5D550 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S5D550 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S5D550 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S5D550 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S5F3K5 Noonan syndrome LD2F.15 Orphanet 648 TPD-S5F3K5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S5F3K5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S5F3K5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S5F3K5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S5F3K5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S5F3K5 Lynch syndrome 2B90.Y Orphanet 144 TPD-S5F3K5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S5F3K5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S5G4LK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S5G4LK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S5HTQQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S5HTQQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S5HTQQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S5HTQQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S5HUN3 Noonan syndrome LD2F.15 Orphanet 648 TPD-S5HUN3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S5HUN3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S5HUN3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S5HUN3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S5HUN3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S5HUN3 Lynch syndrome 2B90.Y Orphanet 144 TPD-S5HUN3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S5HUN3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S5IPNM Kennedy disease 8B61.4 Orphanet 481 TPD-S5IPNM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S5IPNM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S5IPNM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S5KXU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-S5KXU1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S5KXU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S5KXU1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S5KXU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S5KXU1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S5KXU1 Lynch syndrome 2B90.Y Orphanet 144 TPD-S5KXU1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S5KXU1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S5MXL0 Kennedy disease 8B61.4 Orphanet 481 TPD-S5MXL0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S5MXL0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S5MXL0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S5NMJQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S5NMJQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S5T74N Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S5T74N Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S5T74N B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S5T74N B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S5VMSL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S5YGG3 Kennedy disease 8B61.4 Orphanet 481 TPD-S5YGG3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S5YGG3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S5YGG3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S5YX3X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S5YX3X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-S5YX3X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S60OUY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S60OUY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S611ZB Noonan syndrome LD2F.15 Orphanet 648 TPD-S611ZB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S611ZB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S611ZB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S611ZB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S611ZB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S611ZB Lynch syndrome 2B90.Y Orphanet 144 TPD-S611ZB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S611ZB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S64PFQ Noonan syndrome LD2F.15 Orphanet 648 TPD-S64PFQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S64PFQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S64PFQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S64PFQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S64PFQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S64PFQ Lynch syndrome 2B90.Y Orphanet 144 TPD-S64PFQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S64PFQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S6G1S2 Kennedy disease 8B61.4 Orphanet 481 TPD-S6G1S2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S6G1S2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S6G1S2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S6MKT8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S6MKT8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S6MKT8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S6NY2P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S6NY2P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S6NY2P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S6NY2P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S6OJ3O Kennedy disease 8B61.4 Orphanet 481 TPD-S6OJ3O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S6OJ3O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S6OJ3O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S6PTYR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S6PTYR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S6QI0G Familial melanoma QC61.Y Orphanet 618 TPD-S6QI0G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S6TK07 Noonan syndrome LD2F.15 Orphanet 648 TPD-S6TK07 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S6TK07 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S6TK07 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S6TK07 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S6TK07 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S6TK07 Lynch syndrome 2B90.Y Orphanet 144 TPD-S6TK07 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S6TK07 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S6V4QP Noonan syndrome LD2F.15 Orphanet 648 TPD-S6V4QP Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-S6YFVZ Kennedy disease 8B61.4 Orphanet 481 TPD-S6YFVZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S6YFVZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S6YFVZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S6Z3FW Familial melanoma QC61.Y Orphanet 618 TPD-S6Z3FW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S777RS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S777RS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S7A687 Noonan syndrome LD2F.15 Orphanet 648 TPD-S7A687 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S7A687 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S7A687 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S7A687 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S7A687 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S7A687 Lynch syndrome 2B90.Y Orphanet 144 TPD-S7A687 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S7A687 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S7BDC6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S7BDC6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S7BDC6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S7BTXD Familial melanoma QC61.Y Orphanet 618 TPD-S7BTXD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S7FPKJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-S7FPKJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-S7GN95 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S7H23B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S7LY81 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S7LY81 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S7LY81 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S7LY81 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S7MG7Q Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S7NUNW Kennedy disease 8B61.4 Orphanet 481 TPD-S7NUNW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S7NUNW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S7NUNW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S7XSN3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S8164J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S8164J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S82SSA Noonan syndrome LD2F.15 Orphanet 648 TPD-S82SSA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S82SSA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S82SSA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S82SSA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S82SSA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S82SSA Lynch syndrome 2B90.Y Orphanet 144 TPD-S82SSA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S82SSA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S84AAY Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-S89RHJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S8BBJM Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-S8BWQC Kennedy disease 8B61.4 Orphanet 481 TPD-S8BWQC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8BWQC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8BWQC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8E77F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S8E77F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S8FHQV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S8G5SZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-S8GP6E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S8GP6E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S8GP6E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S8GP6E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S8GPQO Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-S8GPQO Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-S8GPQO Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-S8GPQO Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-S8GPQO Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-S8GPQO Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-S8GPQO Semantic dementia 6D83 Orphanet 100069 TPD-S8GPQO Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-S8HAF6 Kennedy disease 8B61.4 Orphanet 481 TPD-S8HAF6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8HAF6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8HAF6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8JGK1 Kennedy disease 8B61.4 Orphanet 481 TPD-S8JGK1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8JGK1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8JGK1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8MSNY Kennedy disease 8B61.4 Orphanet 481 TPD-S8MSNY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8MSNY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8MSNY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8NN7F Kennedy disease 8B61.4 Orphanet 481 TPD-S8NN7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8NN7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8NN7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8O3RK Kennedy disease 8B61.4 Orphanet 481 TPD-S8O3RK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8O3RK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8O3RK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8QBLY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S8QBLY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S8QBLY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S8WXHE Kennedy disease 8B61.4 Orphanet 481 TPD-S8WXHE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S8WXHE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S8WXHE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S8XRA1 Familial melanoma QC61.Y Orphanet 618 TPD-S8XRA1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S9193P Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-S9193P Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-S91991 Noonan syndrome LD2F.15 Orphanet 648 TPD-S91991 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-S91991 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-S91991 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S91991 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S91991 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-S91991 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-S91991 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-S91991 Craniopharyngioma 2F9A Orphanet 54595 TPD-S91991 Cushing disease 5A70.0 Orphanet 96253 TPD-S92SX3 Familial melanoma QC61.Y Orphanet 618 TPD-S93RH6 Kennedy disease 8B61.4 Orphanet 481 TPD-S93RH6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S93RH6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S93RH6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S956HM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S956HM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-S96EU6 Kennedy disease 8B61.4 Orphanet 481 TPD-S96EU6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S96EU6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S96EU6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S97DT1 Kennedy disease 8B61.4 Orphanet 481 TPD-S97DT1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S97DT1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S97DT1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S97N5C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-S97N5C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-S97N5C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-S97N5C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-S98D58 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S98D58 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S98D58 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S98MSM Familial melanoma QC61.Y Orphanet 618 TPD-S98MSM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S98R8H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-S98R8H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-S9AZKP Noonan syndrome LD2F.15 Orphanet 648 TPD-S9AZKP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S9AZKP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S9AZKP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S9AZKP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S9AZKP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S9AZKP Lynch syndrome 2B90.Y Orphanet 144 TPD-S9AZKP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S9AZKP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S9B361 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-S9B361 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-S9B361 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-S9CVJ3 Kennedy disease 8B61.4 Orphanet 481 TPD-S9CVJ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S9CVJ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S9CVJ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S9D1QZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-S9DMA1 Familial melanoma QC61.Y Orphanet 618 TPD-S9DMA1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-S9GCG5 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-S9KN8U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S9KN8U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-S9KS9Y Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S9MIKG Noonan syndrome LD2F.15 Orphanet 648 TPD-S9MIKG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S9MIKG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S9MIKG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S9MIKG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S9MIKG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S9MIKG Lynch syndrome 2B90.Y Orphanet 144 TPD-S9MIKG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S9MIKG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S9OACA Noonan syndrome LD2F.15 Orphanet 648 TPD-S9OACA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S9OACA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S9OACA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S9OACA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S9OACA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S9OACA Lynch syndrome 2B90.Y Orphanet 144 TPD-S9OACA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S9OACA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S9OZN0 Noonan syndrome LD2F.15 Orphanet 648 TPD-S9OZN0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-S9OZN0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-S9OZN0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-S9OZN0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-S9OZN0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-S9OZN0 Lynch syndrome 2B90.Y Orphanet 144 TPD-S9OZN0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-S9OZN0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-S9P3I4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-S9PXUB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-S9SUSV Kennedy disease 8B61.4 Orphanet 481 TPD-S9SUSV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-S9SUSV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-S9SUSV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-S9XNS1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-S9XNS1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-S9XNS1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SA2DPW Noonan syndrome LD2F.15 Orphanet 648 TPD-SA2DPW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SA2DPW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SA2DPW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SA2DPW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SA2DPW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SA2DPW Lynch syndrome 2B90.Y Orphanet 144 TPD-SA2DPW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SA2DPW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SA3BYJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SA3GZ9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SA3GZ9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SA3GZ9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SA4TR5 Kennedy disease 8B61.4 Orphanet 481 TPD-SA4TR5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SA4TR5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SA4TR5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SA5JWC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SA5JWC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SA68LN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SA68LN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SA68LN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SA68LN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SA8QVI Kennedy disease 8B61.4 Orphanet 481 TPD-SA8QVI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SA8QVI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SA8QVI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SA9D5J Noonan syndrome LD2F.15 Orphanet 648 TPD-SA9D5J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SA9D5J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SA9D5J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SA9D5J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SA9D5J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SA9D5J Lynch syndrome 2B90.Y Orphanet 144 TPD-SA9D5J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SA9D5J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SAAUHB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SAD4TJ Noonan syndrome LD2F.15 Orphanet 648 TPD-SAD4TJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SAD4TJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SAD4TJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SAD4TJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SAD4TJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SAD4TJ Lynch syndrome 2B90.Y Orphanet 144 TPD-SAD4TJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SAD4TJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SAFKG9 Kennedy disease 8B61.4 Orphanet 481 TPD-SAFKG9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SAFKG9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SAFKG9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SAFMPG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SAFMPG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SAFRW7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SAFRW7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SAFRW7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SAFRW7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SAHHY2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SAHHY2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SAHHY2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SAJD71 Kennedy disease 8B61.4 Orphanet 481 TPD-SAJD71 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SAJD71 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SAJD71 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SAJEH4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SAJIPE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SAJIPE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SAJIPE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SAMUV2 Noonan syndrome LD2F.15 Orphanet 648 TPD-SAMUV2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SAMUV2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SAMUV2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SAMUV2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SAMUV2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SAMUV2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SAMUV2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SAMUV2 Craniopharyngioma 2F9A Orphanet 54595 TPD-SAMUV2 Cushing disease 5A70.0 Orphanet 96253 TPD-SANNVD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SANNVD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SANNVD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SANTJL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SANTJL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SANTJL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SAPTVA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SAPTVA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SAPTVA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SASNMO Noonan syndrome LD2F.15 Orphanet 648 TPD-SASNMO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SASNMO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SASNMO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SASNMO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SASNMO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SASNMO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SASNMO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SASNMO Craniopharyngioma 2F9A Orphanet 54595 TPD-SASNMO Cushing disease 5A70.0 Orphanet 96253 TPD-SATNVU Noonan syndrome LD2F.15 Orphanet 648 TPD-SATNVU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SATNVU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SATNVU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SATNVU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SATNVU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SATNVU Lynch syndrome 2B90.Y Orphanet 144 TPD-SATNVU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SATNVU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SAUU7K Noonan syndrome LD2F.15 Orphanet 648 TPD-SAUU7K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SAUU7K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SAUU7K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SAUU7K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SAUU7K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SAUU7K Lynch syndrome 2B90.Y Orphanet 144 TPD-SAUU7K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SAUU7K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SAVNJG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SAVNJG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SAVNJG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SAVOZP Kennedy disease 8B61.4 Orphanet 481 TPD-SAVOZP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SAVOZP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SAVOZP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SB7MTE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SB7MTE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SBB5AQ Noonan syndrome LD2F.15 Orphanet 648 TPD-SBB5AQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SBB5AQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SBB5AQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SBB5AQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SBB5AQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SBB5AQ Lynch syndrome 2B90.Y Orphanet 144 TPD-SBB5AQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SBB5AQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SBD5EF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SBD5EF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SBDLGP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SBDLGP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SBDLGP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SBG8CB Noonan syndrome LD2F.15 Orphanet 648 TPD-SBG8CB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SBG8CB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SBG8CB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SBG8CB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SBG8CB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SBG8CB Lynch syndrome 2B90.Y Orphanet 144 TPD-SBG8CB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SBG8CB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SBJ191 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SBJC3J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SBJC3J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SBL98Z Noonan syndrome LD2F.15 Orphanet 648 TPD-SBL98Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SBL98Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SBL98Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SBL98Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SBL98Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SBL98Z Lynch syndrome 2B90.Y Orphanet 144 TPD-SBL98Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SBL98Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SBLUG1 Kennedy disease 8B61.4 Orphanet 481 TPD-SBLUG1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SBLUG1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SBLUG1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SBNUOG Kennedy disease 8B61.4 Orphanet 481 TPD-SBNUOG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SBNUOG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SBNUOG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SBQ2OG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SBQ2OG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SBQ2OG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SBQOG2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SBQOG2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SBQOG2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SBQOG2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SBSVOD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SBUZ0Q Familial melanoma QC61.Y Orphanet 618 TPD-SBUZ0Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SBUZ69 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SBUZ69 Wilson-Turner syndrome LD29 Orphanet 3459 TPD-SBV5Q1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SBV5Q1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SBV5Q1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SBV5Q1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SBY04N Kennedy disease 8B61.4 Orphanet 481 TPD-SBY04N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SBY04N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SBY04N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SBYH3Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SBZNCU Noonan syndrome LD2F.15 Orphanet 648 TPD-SBZNCU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SBZNCU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SBZNCU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SBZNCU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SBZNCU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SBZNCU Lynch syndrome 2B90.Y Orphanet 144 TPD-SBZNCU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SBZNCU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SC11NY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SC11NY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SC2KXY Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-SC34OG Kennedy disease 8B61.4 Orphanet 481 TPD-SC34OG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SC34OG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SC34OG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SC5D89 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SC5D89 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SC5D89 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SC5D89 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SC5D89 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SC5D89 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SC5D89 Semantic dementia 6D83 Orphanet 100069 TPD-SC5D89 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SC5Z93 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SC5Z93 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SC5Z93 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SC6BL6 Kennedy disease 8B61.4 Orphanet 481 TPD-SC6BL6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SC6BL6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SC6BL6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SC764K Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-SCFGPI Kennedy disease 8B61.4 Orphanet 481 TPD-SCFGPI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SCFGPI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SCFGPI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SCFOVE Kennedy disease 8B61.4 Orphanet 481 TPD-SCFOVE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SCFOVE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SCFOVE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SCI395 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SCI395 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SCIAJZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SCIAJZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SCIAJZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SCNZVG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SCNZVG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SCOOKB Noonan syndrome LD2F.15 Orphanet 648 TPD-SCOOKB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SCOOKB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SCOOKB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SCOOKB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SCOOKB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SCOOKB Lynch syndrome 2B90.Y Orphanet 144 TPD-SCOOKB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SCOOKB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SCXJC4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SCXJC4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SCXJC4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SCZT01 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SCZYXS Kennedy disease 8B61.4 Orphanet 481 TPD-SCZYXS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SCZYXS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SCZYXS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SD06T0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SD06T0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SD1NR0 Kennedy disease 8B61.4 Orphanet 481 TPD-SD1NR0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SD1NR0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SD1NR0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SD4IBQ Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-SD4IBQ X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-SD5APQ Kennedy disease 8B61.4 Orphanet 481 TPD-SD5APQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SD5APQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SD5APQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SD5WFD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SD5WFD Neuroblastoma 2A00.11 Orphanet 635 TPD-SD5WFD Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-SD5WFD ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-SD5WFD ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-SD9TC3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SD9TC3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SDB0U9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SDDU4X Familial melanoma QC61.Y Orphanet 618 TPD-SDEMUS Familial melanoma QC61.Y Orphanet 618 TPD-SDEMUS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SDES9J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SDES9J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SDES9J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SDES9J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SDG9UP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SDG9UP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SDGG3V Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-SDH52Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SDH52Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SDIXIT Kennedy disease 8B61.4 Orphanet 481 TPD-SDIXIT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SDIXIT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SDIXIT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SDLMDC Noonan syndrome LD2F.15 Orphanet 648 TPD-SDLMDC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SDLMDC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SDLMDC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SDLMDC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SDLMDC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SDLMDC Lynch syndrome 2B90.Y Orphanet 144 TPD-SDLMDC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SDLMDC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SDNOYT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SDSP13 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SDX2ON Kennedy disease 8B61.4 Orphanet 481 TPD-SDX2ON Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SDX2ON Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SDX2ON Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SDX9ZM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SDX9ZM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SDX9ZM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SDX9ZM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SE44OS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SE44OS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SE4J9X Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-SE4J9X Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-SE4QLN Noonan syndrome LD2F.15 Orphanet 648 TPD-SE4QLN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SE4QLN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SE4QLN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SE4QLN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SE4QLN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SE4QLN Lynch syndrome 2B90.Y Orphanet 144 TPD-SE4QLN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SE4QLN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SE5V82 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-SE5V82 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-SE5V82 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-SE5V82 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-SE5V82 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-SE5V82 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-SE5V82 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SE5V82 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-SE5V82 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-SE63FV Noonan syndrome LD2F.15 Orphanet 648 TPD-SE63FV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SE63FV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SE63FV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SE63FV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SE63FV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SE63FV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SE63FV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SE63FV Craniopharyngioma 2F9A Orphanet 54595 TPD-SE63FV Cushing disease 5A70.0 Orphanet 96253 TPD-SEB7LB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SEDQPF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SEGK7W Familial melanoma QC61.Y Orphanet 618 TPD-SEGK7W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SEHKPQ Kennedy disease 8B61.4 Orphanet 481 TPD-SEHKPQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SEHKPQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SEHKPQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SEHSAY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SEMIC0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SEOTEY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SEOTEY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SEOTEY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SEOTEY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SEW76J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SEW76J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SEW76J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SEWDI4 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-SEWPMS Kennedy disease 8B61.4 Orphanet 481 TPD-SEWPMS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SEWPMS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SEWPMS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SEXNU8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SEYGB8 Weaver syndrome LD2C Orphanet 3447 TPD-SF2QU3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SF4PZK Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SF5NVU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SF78L7 Kennedy disease 8B61.4 Orphanet 481 TPD-SF78L7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SF78L7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SF78L7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SF9QIK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SF9QIK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SFA448 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SFAFK1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SFAFK1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SFBHNB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SFBHNB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SFJ8FM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SFJ8FM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SFJG6P Noonan syndrome LD2F.15 Orphanet 648 TPD-SFJG6P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SFJG6P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SFJG6P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SFJG6P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SFJG6P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SFJG6P Lynch syndrome 2B90.Y Orphanet 144 TPD-SFJG6P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SFJG6P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SFK6V5 Kennedy disease 8B61.4 Orphanet 481 TPD-SFK6V5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SFK6V5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SFK6V5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SFM75S Noonan syndrome LD2F.15 Orphanet 648 TPD-SFM75S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SFM75S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SFM75S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SFM75S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SFM75S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SFM75S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SFM75S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SFM75S Craniopharyngioma 2F9A Orphanet 54595 TPD-SFM75S Cushing disease 5A70.0 Orphanet 96253 TPD-SFMC89 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SFMC89 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SFMC89 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SFMC89 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SFP28C Kennedy disease 8B61.4 Orphanet 481 TPD-SFP28C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SFP28C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SFP28C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SFP8DJ Kennedy disease 8B61.4 Orphanet 481 TPD-SFP8DJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SFP8DJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SFP8DJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SFRMUL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SFRMUL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SFUNCX Noonan syndrome LD2F.15 Orphanet 648 TPD-SFUNCX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SFUNCX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SFUNCX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SFUNCX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SFUNCX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SFUNCX Lynch syndrome 2B90.Y Orphanet 144 TPD-SFUNCX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SFUNCX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SFWEZR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SFWEZR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SFWEZR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SFYJSX Kennedy disease 8B61.4 Orphanet 481 TPD-SFYJSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SFYJSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SFYJSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SG1LPO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SG1LPO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SG1LPO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SG1LPO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SG2C63 Kennedy disease 8B61.4 Orphanet 481 TPD-SG2C63 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SG2C63 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SG2C63 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SG3F60 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SG3F60 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SG3F60 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SG3UMI Kennedy disease 8B61.4 Orphanet 481 TPD-SG3UMI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SG3UMI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SG3UMI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SG524T Kennedy disease 8B61.4 Orphanet 481 TPD-SG524T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SG524T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SG524T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SG66XK X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SG66XK Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SG7IWA Kennedy disease 8B61.4 Orphanet 481 TPD-SG7IWA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SG7IWA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SG7IWA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SG7OAR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SG7OAR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SG7OAR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SG7OAR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SG8TO5 Huntington disease 8A01.10 Orphanet 399 TPD-SGC8XX Noonan syndrome LD2F.15 Orphanet 648 TPD-SGC8XX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SGC8XX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SGC8XX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SGC8XX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SGC8XX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SGC8XX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SGC8XX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SGC8XX Craniopharyngioma 2F9A Orphanet 54595 TPD-SGC8XX Cushing disease 5A70.0 Orphanet 96253 TPD-SGCCMQ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-SGCCMQ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-SGHDD9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SGHDD9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SGHDD9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SGHDD9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SGHDD9 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-SGHDD9 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-SGHDD9 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-SGIDT0 Noonan syndrome LD2F.15 Orphanet 648 TPD-SGIDT0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SGIDT0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SGIDT0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SGIDT0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SGIDT0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SGIDT0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SGIDT0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SGIDT0 Craniopharyngioma 2F9A Orphanet 54595 TPD-SGIDT0 Cushing disease 5A70.0 Orphanet 96253 TPD-SGNSHE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SGPPVF Noonan syndrome LD2F.15 Orphanet 648 TPD-SGPPVF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SGPPVF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SGPPVF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SGPPVF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SGPPVF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SGPPVF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SGPPVF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SGPPVF Craniopharyngioma 2F9A Orphanet 54595 TPD-SGPPVF Cushing disease 5A70.0 Orphanet 96253 TPD-SGR7LN Kennedy disease 8B61.4 Orphanet 481 TPD-SGR7LN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SGR7LN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SGR7LN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SGS5OG Kennedy disease 8B61.4 Orphanet 481 TPD-SGS5OG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SGS5OG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SGS5OG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SGUJ4P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SGUJ4P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SGUJ4P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SGUJ4P B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SGUMAU Kennedy disease 8B61.4 Orphanet 481 TPD-SGUMAU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SGUMAU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SGUMAU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SGVBIS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SGW32V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SGW32V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SGW32V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SGW32V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SGXW8L Noonan syndrome LD2F.15 Orphanet 648 TPD-SGXW8L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SGXW8L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SGXW8L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SGXW8L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SGXW8L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SGXW8L Lynch syndrome 2B90.Y Orphanet 144 TPD-SGXW8L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SGXW8L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SH25BM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SH25BM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SH25BM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SH2S2O Familial melanoma QC61.Y Orphanet 618 TPD-SH2SY9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SH2SY9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SH2SY9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SH2SY9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SH5V0E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SH7MM3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SH7MM3 Neuroblastoma 2A00.11 Orphanet 635 TPD-SH7MM3 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-SH7MM3 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-SH7MM3 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-SH7N7I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SH7N7I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SH7N7I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SH7Q3G Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SHA66D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SHBHAG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SHCCFB Familial melanoma QC61.Y Orphanet 618 TPD-SHCCFB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SHDMX0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SHH80H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SHP684 Kennedy disease 8B61.4 Orphanet 481 TPD-SHP684 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SHP684 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SHP684 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SHV33C Noonan syndrome LD2F.15 Orphanet 648 TPD-SHV33C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SHV33C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SHV33C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SHV33C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SHV33C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SHV33C Lynch syndrome 2B90.Y Orphanet 144 TPD-SHV33C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SHV33C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SHV6AX Kennedy disease 8B61.4 Orphanet 481 TPD-SHV6AX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SHV6AX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SHV6AX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SI0OWX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SI0OWX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SI3NZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-SI3NZ4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SI3NZ4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SI3NZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SI3NZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SI3NZ4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SI3NZ4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SI3NZ4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SI3NZ4 Craniopharyngioma 2F9A Orphanet 54595 TPD-SI3NZ4 Cushing disease 5A70.0 Orphanet 96253 TPD-SI83GQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SIHQP5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SIHQP5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SIISAT Kennedy disease 8B61.4 Orphanet 481 TPD-SIISAT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SIISAT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SIISAT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SIMF16 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SINAQX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SIPM3Y Kennedy disease 8B61.4 Orphanet 481 TPD-SIPM3Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SIPM3Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SIPM3Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SISQDW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SISQDW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SISQDW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SISUK9 Noonan syndrome LD2F.15 Orphanet 648 TPD-SISUK9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SISUK9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SISUK9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SISUK9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SISUK9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SISUK9 Lynch syndrome 2B90.Y Orphanet 144 TPD-SISUK9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SISUK9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SIZIFB Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SIZXBT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SJ10PE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SJ10PE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SJ10PE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SJ10PE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SJ1YH2 Peters anomaly 9C61.42 Orphanet 708 TPD-SJ1YH2 Congenital glaucoma 9C61.40 Orphanet 98976 TPD-SJ1YH2 Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-SJ3VL9 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-SJ8UGV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SJ8UGV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SJ9LBC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SJ9LBC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SJJHIG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SJLRLK Noonan syndrome LD2F.15 Orphanet 648 TPD-SJLRLK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SJLRLK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SJLRLK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SJLRLK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SJLRLK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SJLRLK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SJLRLK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SJLRLK Craniopharyngioma 2F9A Orphanet 54595 TPD-SJLRLK Cushing disease 5A70.0 Orphanet 96253 TPD-SJVRFO Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-SJVRFO Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-SJVRFO Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-SJVRFO Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-SJVRFO Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-SJVRFO Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-SJVRFO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SJVRFO Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-SJVRFO Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-SJW4WP Kennedy disease 8B61.4 Orphanet 481 TPD-SJW4WP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SJW4WP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SJW4WP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SJYHQU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SJYHQU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SJYHQU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SJYML9 Noonan syndrome LD2F.15 Orphanet 648 TPD-SJYML9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SJYML9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SJYML9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SJYML9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SJYML9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SJYML9 Lynch syndrome 2B90.Y Orphanet 144 TPD-SJYML9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SJYML9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SJZTMO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SJZTMO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SK0JN3 Kennedy disease 8B61.4 Orphanet 481 TPD-SK0JN3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SK0JN3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SK0JN3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SK0JN3 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-SK0JN3 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-SK0JN3 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SK0JN3 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-SK1481 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SK1481 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SKFZHM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SKFZHM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SKFZHM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SKFZHM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SKIE0R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SKJYM9 Noonan syndrome LD2F.15 Orphanet 648 TPD-SKJYM9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SKJYM9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SKJYM9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SKJYM9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SKJYM9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SKJYM9 Lynch syndrome 2B90.Y Orphanet 144 TPD-SKJYM9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SKJYM9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SKKYH3 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-SKNBHW Noonan syndrome LD2F.15 Orphanet 648 TPD-SKNBHW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SKNBHW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SKNBHW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SKNBHW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SKNBHW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SKNBHW Lynch syndrome 2B90.Y Orphanet 144 TPD-SKNBHW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SKNBHW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SKPZF9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SKQJY2 Kennedy disease 8B61.4 Orphanet 481 TPD-SKQJY2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SKQJY2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SKQJY2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SKT58H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SKTYLJ Kennedy disease 8B61.4 Orphanet 481 TPD-SKTYLJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SKTYLJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SKTYLJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SKW3EU Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-SKWY4P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SKZXCF Noonan syndrome LD2F.15 Orphanet 648 TPD-SKZXCF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SKZXCF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SKZXCF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SKZXCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SKZXCF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SKZXCF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SKZXCF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SKZXCF Craniopharyngioma 2F9A Orphanet 54595 TPD-SKZXCF Cushing disease 5A70.0 Orphanet 96253 TPD-SL3SNB Noonan syndrome LD2F.15 Orphanet 648 TPD-SL3SNB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SL3SNB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SL3SNB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SL3SNB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SL3SNB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SL3SNB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SL3SNB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SL3SNB Craniopharyngioma 2F9A Orphanet 54595 TPD-SL3SNB Cushing disease 5A70.0 Orphanet 96253 TPD-SL69LM Noonan syndrome LD2F.15 Orphanet 648 TPD-SL69LM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SL69LM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SL69LM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SL69LM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SL69LM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SL69LM Lynch syndrome 2B90.Y Orphanet 144 TPD-SL69LM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SL69LM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SL79BJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SL88HU Noonan syndrome LD2F.15 Orphanet 648 TPD-SL88HU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SL88HU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SL88HU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SL88HU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SL88HU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SL88HU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SL88HU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SL88HU Craniopharyngioma 2F9A Orphanet 54595 TPD-SL88HU Cushing disease 5A70.0 Orphanet 96253 TPD-SL9PU9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SL9PU9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SLAM31 Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-SLBZPJ Kennedy disease 8B61.4 Orphanet 481 TPD-SLBZPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLBZPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLBZPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLD7UX Kennedy disease 8B61.4 Orphanet 481 TPD-SLD7UX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLD7UX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLD7UX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLF1PJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SLF65U Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SLF65U Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SLFAOR Kennedy disease 8B61.4 Orphanet 481 TPD-SLFAOR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLFAOR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLFAOR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLIM7R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SLJTK2 Kennedy disease 8B61.4 Orphanet 481 TPD-SLJTK2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLJTK2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLJTK2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLKZGX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SLNGI0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SLNGI0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SLRK4L Kennedy disease 8B61.4 Orphanet 481 TPD-SLRK4L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLRK4L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLRK4L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLTSPZ Kennedy disease 8B61.4 Orphanet 481 TPD-SLTSPZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLTSPZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLTSPZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SLVPWB Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SLVPWB Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SLW21J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SLW21J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SLXLDI Noonan syndrome LD2F.15 Orphanet 648 TPD-SLXLDI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SLXLDI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SLXLDI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SLXLDI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SLXLDI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SLXLDI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SLXLDI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SLXLDI Craniopharyngioma 2F9A Orphanet 54595 TPD-SLXLDI Cushing disease 5A70.0 Orphanet 96253 TPD-SLYXHB Kennedy disease 8B61.4 Orphanet 481 TPD-SLYXHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SLYXHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SLYXHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SM01DD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SM414V Kennedy disease 8B61.4 Orphanet 481 TPD-SM414V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SM414V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SM414V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SM4XFF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SM5KZJ Noonan syndrome LD2F.15 Orphanet 648 TPD-SM5KZJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SM5KZJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SM5KZJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SM5KZJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SM5KZJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SM5KZJ Lynch syndrome 2B90.Y Orphanet 144 TPD-SM5KZJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SM5KZJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SM5QPK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SM6EHV Kennedy disease 8B61.4 Orphanet 481 TPD-SM6EHV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SM6EHV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SM6EHV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMA36Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SMA36Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SMA36Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SMGP7M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SMGP7M Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SMI0WX Kennedy disease 8B61.4 Orphanet 481 TPD-SMI0WX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SMI0WX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SMI0WX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMIWCX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SMJWH2 Kennedy disease 8B61.4 Orphanet 481 TPD-SMJWH2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SMJWH2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SMJWH2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMK7E5 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SMK7E5 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SMKUQ6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SMLE4C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SMLE4C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SMLUOI Kennedy disease 8B61.4 Orphanet 481 TPD-SMLUOI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SMLUOI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SMLUOI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMLXBM Noonan syndrome LD2F.15 Orphanet 648 TPD-SMLXBM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SMLXBM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SMLXBM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SMLXBM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SMLXBM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SMLXBM Lynch syndrome 2B90.Y Orphanet 144 TPD-SMLXBM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SMLXBM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SMRUYK Kennedy disease 8B61.4 Orphanet 481 TPD-SMRUYK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SMRUYK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SMRUYK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMSDC5 Kennedy disease 8B61.4 Orphanet 481 TPD-SMSDC5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SMSDC5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SMSDC5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SMTSD6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SMVQ1L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SMVQ1L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SMVQ1L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SMYE7U CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SMZF86 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SN25JS Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SN25JS Wilson-Turner syndrome LD29 Orphanet 3459 TPD-SN3O1Y Noonan syndrome LD2F.15 Orphanet 648 TPD-SN3O1Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SN3O1Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SN3O1Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SN3O1Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SN3O1Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SN3O1Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SN3O1Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SN3O1Y Craniopharyngioma 2F9A Orphanet 54595 TPD-SN3O1Y Cushing disease 5A70.0 Orphanet 96253 TPD-SN4STV Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SNF2EZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SNF2EZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SNIT29 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SNIT29 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SNJ99C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SNJ99C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SNJ99C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SNOPSW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SNQIA3 Noonan syndrome LD2F.15 Orphanet 648 TPD-SNQIA3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SNQIA3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SNQIA3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SNQIA3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SNQIA3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SNQIA3 Lynch syndrome 2B90.Y Orphanet 144 TPD-SNQIA3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SNQIA3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SNRKMD Noonan syndrome LD2F.15 Orphanet 648 TPD-SNRKMD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SNRKMD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SNRKMD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SNRKMD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SNRKMD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SNRKMD Lynch syndrome 2B90.Y Orphanet 144 TPD-SNRKMD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SNRKMD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SNRLIM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SNRLIM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SNTV64 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SNTV64 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SNTV64 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SNWXR8 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SNWXR8 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SO04VP Familial melanoma QC61.Y Orphanet 618 TPD-SO04VP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SO0QLG Kennedy disease 8B61.4 Orphanet 481 TPD-SO0QLG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SO0QLG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SO0QLG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SO82IG Kennedy disease 8B61.4 Orphanet 481 TPD-SO82IG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SO82IG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SO82IG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SOE3UI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SOE3UI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SOE3UI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SOE3UI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SOENDL Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-SOLSB9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SOLSB9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SOLSB9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SOMZDF Kennedy disease 8B61.4 Orphanet 481 TPD-SOMZDF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SOMZDF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SOMZDF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SOUCBY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SP195U Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SP195U Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SP195U Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SP195U Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SP195U Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SP195U Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SP195U Semantic dementia 6D83 Orphanet 100069 TPD-SP195U Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SP5N87 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SP5SFF Noonan syndrome LD2F.15 Orphanet 648 TPD-SP5SFF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SP5SFF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SP5SFF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SP5SFF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SP5SFF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SP5SFF Lynch syndrome 2B90.Y Orphanet 144 TPD-SP5SFF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SP5SFF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SP5UXL Kennedy disease 8B61.4 Orphanet 481 TPD-SP5UXL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SP5UXL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SP5UXL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SP82OO Noonan syndrome LD2F.15 Orphanet 648 TPD-SP82OO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SP82OO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SP82OO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SP82OO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SP82OO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SP82OO Lynch syndrome 2B90.Y Orphanet 144 TPD-SP82OO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SP82OO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SP89B0 Kennedy disease 8B61.4 Orphanet 481 TPD-SP89B0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SP89B0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SP89B0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SP94RE Noonan syndrome LD2F.15 Orphanet 648 TPD-SP94RE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SP94RE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SP94RE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SP94RE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SP94RE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SP94RE Lynch syndrome 2B90.Y Orphanet 144 TPD-SP94RE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SP94RE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SPB9ZC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SPEP7J Kennedy disease 8B61.4 Orphanet 481 TPD-SPEP7J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SPEP7J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SPEP7J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SPHQ5D Familial melanoma QC61.Y Orphanet 618 TPD-SPHQ5D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SPHYFH Kennedy disease 8B61.4 Orphanet 481 TPD-SPHYFH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SPHYFH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SPHYFH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SPJ5Q0 Noonan syndrome LD2F.15 Orphanet 648 TPD-SPJ5Q0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SPJ5Q0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SPJ5Q0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SPJ5Q0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SPJ5Q0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SPJ5Q0 Lynch syndrome 2B90.Y Orphanet 144 TPD-SPJ5Q0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SPJ5Q0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SPLQNM Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-SPP94V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SPP94V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SPP94V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SPP94V B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SPPRI5 Kennedy disease 8B61.4 Orphanet 481 TPD-SPPRI5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SPPRI5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SPPRI5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SPS2A3 Weaver syndrome LD2C Orphanet 3447 TPD-SPV7AH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SPZNKX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SQ1EY6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SQ31JD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SQ31JD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SQ31JD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SQ31JD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SQ41HW Noonan syndrome LD2F.15 Orphanet 648 TPD-SQ41HW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SQ41HW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SQ41HW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SQ41HW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SQ41HW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SQ41HW Lynch syndrome 2B90.Y Orphanet 144 TPD-SQ41HW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SQ41HW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SQ78LO Kennedy disease 8B61.4 Orphanet 481 TPD-SQ78LO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SQ78LO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SQ78LO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SQA71Q Noonan syndrome LD2F.15 Orphanet 648 TPD-SQA71Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SQA71Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SQA71Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SQA71Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SQA71Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SQA71Q Lynch syndrome 2B90.Y Orphanet 144 TPD-SQA71Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SQA71Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SQB1UT Noonan syndrome LD2F.15 Orphanet 648 TPD-SQB1UT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SQB1UT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SQB1UT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SQB1UT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SQB1UT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SQB1UT Lynch syndrome 2B90.Y Orphanet 144 TPD-SQB1UT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SQB1UT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SQDJF3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SQEJS6 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-SQGK9M Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SQGK9M Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SQGK9M Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SQGK9M Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SQGK9M Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SQGK9M Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SQGK9M Semantic dementia 6D83 Orphanet 100069 TPD-SQGK9M Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SQHJZR Kennedy disease 8B61.4 Orphanet 481 TPD-SQHJZR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SQHJZR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SQHJZR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SQHKB1 Kennedy disease 8B61.4 Orphanet 481 TPD-SQHKB1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SQHKB1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SQHKB1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SQLM5B Noonan syndrome LD2F.15 Orphanet 648 TPD-SQLM5B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SQLM5B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SQLM5B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SQLM5B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SQLM5B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SQLM5B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SQLM5B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SQLM5B Craniopharyngioma 2F9A Orphanet 54595 TPD-SQLM5B Cushing disease 5A70.0 Orphanet 96253 TPD-SQPVON Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-SQPVON Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-SQPVON Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-SQPVON Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-SQPVON Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-SQPVON Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-SQPVON B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SQPVON Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-SQPVON Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-SQRRAU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SQRRAU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SQRRAU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SQRRAU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SQRRAU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SQRRAU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SQRRAU Semantic dementia 6D83 Orphanet 100069 TPD-SQRRAU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SQS2N8 Noonan syndrome LD2F.15 Orphanet 648 TPD-SQS2N8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SQS2N8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SQS2N8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SQS2N8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SQS2N8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SQS2N8 Lynch syndrome 2B90.Y Orphanet 144 TPD-SQS2N8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SQS2N8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SQUEGP Hirschsprung disease LB16.1 Orphanet 388 TPD-SQUEGP Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-SQYPRU Noonan syndrome LD2F.15 Orphanet 648 TPD-SQYPRU Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-SQZAJU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SR3TN5 Familial melanoma QC61.Y Orphanet 618 TPD-SR3TN5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SR3YOY Kennedy disease 8B61.4 Orphanet 481 TPD-SR3YOY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SR3YOY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SR3YOY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SR4MPA Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-SR5GP0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SRA9XQ Kennedy disease 8B61.4 Orphanet 481 TPD-SRA9XQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SRA9XQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SRA9XQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SRFD50 Kennedy disease 8B61.4 Orphanet 481 TPD-SRFD50 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SRFD50 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SRFD50 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SRFQ7E Noonan syndrome LD2F.15 Orphanet 648 TPD-SRFQ7E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SRFQ7E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SRFQ7E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SRFQ7E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SRFQ7E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SRFQ7E Lynch syndrome 2B90.Y Orphanet 144 TPD-SRFQ7E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SRFQ7E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SRJTK1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SRJTK1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SRJTK1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SRJTK1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SRLII6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SRLII6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SRNCHO Kennedy disease 8B61.4 Orphanet 481 TPD-SRNCHO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SRNCHO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SRNCHO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SRNCN1 Noonan syndrome LD2F.15 Orphanet 648 TPD-SRNCN1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SRNCN1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SRNCN1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SRNCN1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SRNCN1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SRNCN1 Lynch syndrome 2B90.Y Orphanet 144 TPD-SRNCN1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SRNCN1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SRQH0B CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SRRADW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SRT5RF Familial melanoma QC61.Y Orphanet 618 TPD-SRT5RF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SRTH7F Noonan syndrome LD2F.15 Orphanet 648 TPD-SRTH7F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SRTH7F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SRTH7F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SRTH7F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SRTH7F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SRTH7F Lynch syndrome 2B90.Y Orphanet 144 TPD-SRTH7F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SRTH7F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SRUELR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SRUELR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SRVRGO Noonan syndrome LD2F.15 Orphanet 648 TPD-SRVRGO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SRVRGO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SRVRGO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SRVRGO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SRVRGO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SRVRGO Lynch syndrome 2B90.Y Orphanet 144 TPD-SRVRGO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SRVRGO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SRX5M2 Kennedy disease 8B61.4 Orphanet 481 TPD-SRX5M2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SRX5M2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SRX5M2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SRX7RV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SRX9KK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SRX9KK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SRX9KK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SRX9KK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SS0MBB Familial melanoma QC61.Y Orphanet 618 TPD-SS16H9 Noonan syndrome LD2F.15 Orphanet 648 TPD-SS16H9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SS16H9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SS16H9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SS16H9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SS16H9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SS16H9 Lynch syndrome 2B90.Y Orphanet 144 TPD-SS16H9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SS16H9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SS1G13 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SS1G13 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SS1PRT Kennedy disease 8B61.4 Orphanet 481 TPD-SS1PRT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SS1PRT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SS1PRT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SS34ZX Familial melanoma QC61.Y Orphanet 618 TPD-SS34ZX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SS644U Noonan syndrome LD2F.15 Orphanet 648 TPD-SS644U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SS644U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SS644U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SS644U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SS644U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SS644U Lynch syndrome 2B90.Y Orphanet 144 TPD-SS644U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SS644U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SS8PHP Noonan syndrome LD2F.15 Orphanet 648 TPD-SS8PHP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SS8PHP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SS8PHP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SS8PHP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SS8PHP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SS8PHP Lynch syndrome 2B90.Y Orphanet 144 TPD-SS8PHP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SS8PHP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SSA3YH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SSA3YH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SSDGCA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SSDGCA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SSDGCA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SSDGCA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SSDGCA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SSDGCA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SSDGCA Semantic dementia 6D83 Orphanet 100069 TPD-SSDGCA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SSIP8H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SSJV5C Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SSK2N5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SSKPNK Kennedy disease 8B61.4 Orphanet 481 TPD-SSKPNK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SSKPNK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SSKPNK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SSKRBQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SSKRBQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SSKRBQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SSQRVX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SSQRVX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SSWEO8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SSWEO8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SSWEO8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SSWEO8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ST2G09 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ST2G09 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ST2G09 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ST38GL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ST38GL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ST72GV Noonan syndrome LD2F.15 Orphanet 648 TPD-ST72GV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ST72GV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ST72GV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ST72GV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ST72GV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ST72GV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ST72GV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ST72GV Craniopharyngioma 2F9A Orphanet 54595 TPD-ST72GV Cushing disease 5A70.0 Orphanet 96253 TPD-ST9H3Z Kennedy disease 8B61.4 Orphanet 481 TPD-ST9H3Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ST9H3Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ST9H3Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-STAIXF Noonan syndrome LD2F.15 Orphanet 648 TPD-STAIXF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-STAIXF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-STAIXF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-STAIXF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-STAIXF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-STAIXF Lynch syndrome 2B90.Y Orphanet 144 TPD-STAIXF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-STAIXF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-STCLEE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-STCLEE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-STCLEE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-STDA20 Kennedy disease 8B61.4 Orphanet 481 TPD-STDA20 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-STDA20 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-STDA20 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-STE7RU Kennedy disease 8B61.4 Orphanet 481 TPD-STE7RU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-STE7RU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-STE7RU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-STGW77 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-STHG1J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-STHG1J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-STHG1J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-STM0VL Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-STM0VL Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-STMY14 Kennedy disease 8B61.4 Orphanet 481 TPD-STMY14 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-STMY14 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-STMY14 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-STQAN8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-STQAN8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-STUJYJ Kennedy disease 8B61.4 Orphanet 481 TPD-STUJYJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-STUJYJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-STUJYJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-STVPYL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-STVPYL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-STYHS1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SU7L4B Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SU7L4B Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SU7L4B Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SU8OI9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SU8OI9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SU8OI9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SU8OI9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SU9BRD Noonan syndrome LD2F.15 Orphanet 648 TPD-SU9BRD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SU9BRD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SU9BRD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SU9BRD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SU9BRD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SU9BRD Lynch syndrome 2B90.Y Orphanet 144 TPD-SU9BRD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SU9BRD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUB8A7 Noonan syndrome LD2F.15 Orphanet 648 TPD-SUB8A7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUB8A7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUB8A7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUB8A7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUB8A7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUB8A7 Lynch syndrome 2B90.Y Orphanet 144 TPD-SUB8A7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUB8A7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUCKBR Noonan syndrome LD2F.15 Orphanet 648 TPD-SUCKBR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUCKBR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUCKBR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUCKBR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUCKBR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUCKBR Lynch syndrome 2B90.Y Orphanet 144 TPD-SUCKBR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUCKBR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUEXFC Noonan syndrome LD2F.15 Orphanet 648 TPD-SUEXFC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUEXFC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUEXFC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUEXFC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUEXFC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUEXFC Lynch syndrome 2B90.Y Orphanet 144 TPD-SUEXFC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUEXFC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUHOR9 Kennedy disease 8B61.4 Orphanet 481 TPD-SUHOR9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SUHOR9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SUHOR9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SUJY1F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SUMKXT Noonan syndrome LD2F.15 Orphanet 648 TPD-SUMKXT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUMKXT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUMKXT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUMKXT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUMKXT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUMKXT Lynch syndrome 2B90.Y Orphanet 144 TPD-SUMKXT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUMKXT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUOPI3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SUOPI3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SUQCW0 Kennedy disease 8B61.4 Orphanet 481 TPD-SUQCW0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SUQCW0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SUQCW0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SUSRB7 Noonan syndrome LD2F.15 Orphanet 648 TPD-SUSRB7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUSRB7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUSRB7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUSRB7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUSRB7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUSRB7 Lynch syndrome 2B90.Y Orphanet 144 TPD-SUSRB7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUSRB7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUVB27 Noonan syndrome LD2F.15 Orphanet 648 TPD-SUVB27 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SUVB27 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SUVB27 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SUVB27 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SUVB27 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SUVB27 Lynch syndrome 2B90.Y Orphanet 144 TPD-SUVB27 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SUVB27 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SUWXOM Kennedy disease 8B61.4 Orphanet 481 TPD-SUWXOM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SUWXOM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SUWXOM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SV02MZ Kennedy disease 8B61.4 Orphanet 481 TPD-SV02MZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SV02MZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SV02MZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SV1KZN Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-SV24B6 Familial melanoma QC61.Y Orphanet 618 TPD-SV24B6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SV29YE Kennedy disease 8B61.4 Orphanet 481 TPD-SV29YE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SV29YE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SV29YE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SV2S3W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SV2S3W Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SV2S3W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SVAEGV Noonan syndrome LD2F.15 Orphanet 648 TPD-SVAEGV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SVAEGV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SVAEGV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SVAEGV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SVAEGV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SVAEGV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SVAEGV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SVAEGV Craniopharyngioma 2F9A Orphanet 54595 TPD-SVAEGV Cushing disease 5A70.0 Orphanet 96253 TPD-SVCOVL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SVCVP6 Kennedy disease 8B61.4 Orphanet 481 TPD-SVCVP6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SVCVP6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SVCVP6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SVG845 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SVG845 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SVKCV9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SVKCV9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SVLXO6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SVLXO6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SVLXO6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SVN3LM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SVN3LM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SVN3LM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SVN3LM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SVRWLW Kennedy disease 8B61.4 Orphanet 481 TPD-SVRWLW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SVRWLW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SVRWLW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SVSF7O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SVSF7O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SVSF7O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SVSJPG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SVSJPG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SVSJPG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SVUTU7 Kennedy disease 8B61.4 Orphanet 481 TPD-SVUTU7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SVUTU7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SVUTU7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SVVDJJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SVX23A CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SVXOAJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SVXW7P Noonan syndrome LD2F.15 Orphanet 648 TPD-SVXW7P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SVXW7P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SVXW7P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SVXW7P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SVXW7P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SVXW7P Lynch syndrome 2B90.Y Orphanet 144 TPD-SVXW7P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SVXW7P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SVYSMP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SVYSMP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SVYSMP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SVZV4S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SVZV4S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SW1CSL Kennedy disease 8B61.4 Orphanet 481 TPD-SW1CSL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SW1CSL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SW1CSL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SW3MDR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SW3MDR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SW3MDR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SW3Z0N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SW3Z0N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SW3Z0N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SW5Q27 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SW5Q27 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SW92A1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SW92A1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SW92A1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SW9AFK Kennedy disease 8B61.4 Orphanet 481 TPD-SW9AFK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SW9AFK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SW9AFK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SW9JFK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SWC51O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SWC51O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SWCMQW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SWCMQW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SWF246 Familial melanoma QC61.Y Orphanet 618 TPD-SWF246 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SWF6CZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SWGL23 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-SWGTI8 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-SWGXE9 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-SWGXE9 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-SWGXE9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-SWLX13 Noonan syndrome LD2F.15 Orphanet 648 TPD-SWLX13 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SWLX13 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SWLX13 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SWLX13 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SWLX13 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SWLX13 Lynch syndrome 2B90.Y Orphanet 144 TPD-SWLX13 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SWLX13 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SWM7SZ Kennedy disease 8B61.4 Orphanet 481 TPD-SWM7SZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SWM7SZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SWM7SZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SWRRML Waardenburg syndrome type 2 EC23.2Y Orphanet 895 TPD-SWRRML Minimal pigment oculocutaneous albinism type 1 EC23.20 Orphanet 352734 TPD-SWRRML Temperature-sensitive oculocutaneous albinism type 1 EC23.20 Orphanet 352737 TPD-SWRRML Oculocutaneous albinism type 1B EC23.20 Orphanet 79434 TPD-SWRRML Oculocutaneous albinism type 1A EC23.20 Orphanet 79431 TPD-SWSKEN Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SWSKEN Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SWT9PN Kennedy disease 8B61.4 Orphanet 481 TPD-SWT9PN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SWT9PN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SWT9PN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SWX2LS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SWX50O Kennedy disease 8B61.4 Orphanet 481 TPD-SWX50O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SWX50O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SWX50O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SWZ44S Noonan syndrome LD2F.15 Orphanet 648 TPD-SWZ44S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SWZ44S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SWZ44S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SWZ44S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SWZ44S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SWZ44S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SWZ44S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SWZ44S Craniopharyngioma 2F9A Orphanet 54595 TPD-SWZ44S Cushing disease 5A70.0 Orphanet 96253 TPD-SX1T3F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SX3Z7M Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-SX78TO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SX78TO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-SX7SBS Kennedy disease 8B61.4 Orphanet 481 TPD-SX7SBS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SX7SBS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SX7SBS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SX8PA0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-SX9F64 Noonan syndrome LD2F.15 Orphanet 648 TPD-SX9F64 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SX9F64 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SX9F64 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SX9F64 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SX9F64 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SX9F64 Lynch syndrome 2B90.Y Orphanet 144 TPD-SX9F64 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SX9F64 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SX9PJC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SX9PJC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SX9PJC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SX9PJC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SXDGHZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SXDGHZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SXDGHZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SXDGHZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SXEIE2 Kennedy disease 8B61.4 Orphanet 481 TPD-SXEIE2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SXEIE2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SXEIE2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SXFXUG Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-SXFXUG Retinitis pigmentosa 9B70 Orphanet 791 TPD-SXFXUG Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-SXFXUG Early-onset generalized limb-onset dystonia 8A02.0Y Orphanet 256 TPD-SXFXUG Williams syndrome LD44.70 Orphanet 904 TPD-SXFXUG Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-SXHC9A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SXHC9A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SXMW44 Noonan syndrome LD2F.15 Orphanet 648 TPD-SXMW44 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SXMW44 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SXMW44 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SXMW44 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SXMW44 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SXMW44 Lynch syndrome 2B90.Y Orphanet 144 TPD-SXMW44 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SXMW44 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SXQ2DM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SXQ2DM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SXRXS8 Noonan syndrome LD2F.15 Orphanet 648 TPD-SXRXS8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SXRXS8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SXRXS8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SXRXS8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SXRXS8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SXRXS8 Lynch syndrome 2B90.Y Orphanet 144 TPD-SXRXS8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SXRXS8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SXTM31 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SXTM31 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SY5FWT Familial melanoma QC61.Y Orphanet 618 TPD-SY8CCT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SYA72B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-SYA72B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-SYAW5T Noonan syndrome LD2F.15 Orphanet 648 TPD-SYAW5T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-SYAW5T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SYAW5T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-SYAW5T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SYAW5T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-SYAW5T Lynch syndrome 2B90.Y Orphanet 144 TPD-SYAW5T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-SYAW5T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-SYE1KI Noonan syndrome LD2F.15 Orphanet 648 TPD-SYE1KI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SYE1KI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SYE1KI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SYE1KI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SYE1KI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SYE1KI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SYE1KI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SYE1KI Craniopharyngioma 2F9A Orphanet 54595 TPD-SYE1KI Cushing disease 5A70.0 Orphanet 96253 TPD-SYG6BZ Noonan syndrome LD2F.15 Orphanet 648 TPD-SYG6BZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-SYG6BZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-SYG6BZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-SYG6BZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-SYG6BZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-SYG6BZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-SYG6BZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-SYG6BZ Craniopharyngioma 2F9A Orphanet 54595 TPD-SYG6BZ Cushing disease 5A70.0 Orphanet 96253 TPD-SYG7QD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SYG7QD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SYG7QD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SYL4EE Kennedy disease 8B61.4 Orphanet 481 TPD-SYL4EE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SYL4EE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SYL4EE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SYLWFA Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-SYQPWX Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-SYQPWX Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-SYRLZH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-SYS3QK Kennedy disease 8B61.4 Orphanet 481 TPD-SYS3QK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SYS3QK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SYS3QK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SYTU1S Kennedy disease 8B61.4 Orphanet 481 TPD-SYTU1S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SYTU1S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SYTU1S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SYVNMU Kennedy disease 8B61.4 Orphanet 481 TPD-SYVNMU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SYVNMU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SYVNMU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SYXJ8A Kennedy disease 8B61.4 Orphanet 481 TPD-SYXJ8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SYXJ8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SYXJ8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SZ19TR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SZ19TR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SZ19TR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SZ3B86 Kennedy disease 8B61.4 Orphanet 481 TPD-SZ3B86 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SZ3B86 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SZ3B86 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SZ40WZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SZ40WZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SZ40WZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SZ40WZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SZ6WX6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SZ6WX6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SZ6WX6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SZ6WX6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SZ8XAK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-SZ8XAK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-SZ8XAK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-SZ8XAK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-SZHEC5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-SZJ4TC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-SZKW4D Familial melanoma QC61.Y Orphanet 618 TPD-SZKW4D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-SZLG2H Kennedy disease 8B61.4 Orphanet 481 TPD-SZLG2H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-SZLG2H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-SZLG2H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-SZYDNY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-SZYDNY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-SZYDNY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-SZZVJR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T00T6I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T00T6I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T02JMX Kennedy disease 8B61.4 Orphanet 481 TPD-T02JMX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T02JMX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T02JMX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T02Z8E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T02Z8E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T02Z8E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T04RJV Kennedy disease 8B61.4 Orphanet 481 TPD-T04RJV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T04RJV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T04RJV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T06B1W Noonan syndrome LD2F.15 Orphanet 648 TPD-T06B1W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T06B1W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T06B1W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T06B1W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T06B1W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T06B1W Lynch syndrome 2B90.Y Orphanet 144 TPD-T06B1W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T06B1W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T09755 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T09755 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T09755 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T09755 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T0AVFB Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-T0AVFB Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-T0BW8A Kennedy disease 8B61.4 Orphanet 481 TPD-T0BW8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T0BW8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T0BW8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T0D6JP Kennedy disease 8B61.4 Orphanet 481 TPD-T0D6JP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T0D6JP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T0D6JP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T0GAPI Noonan syndrome LD2F.15 Orphanet 648 TPD-T0GAPI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T0GAPI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T0GAPI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T0GAPI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T0GAPI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T0GAPI Lynch syndrome 2B90.Y Orphanet 144 TPD-T0GAPI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T0GAPI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T0HC81 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T0HC81 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T0HC81 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T0HC81 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T0HP1D Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T0I3GP Noonan syndrome LD2F.15 Orphanet 648 TPD-T0I3GP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T0I3GP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T0I3GP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T0I3GP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T0I3GP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T0I3GP Lynch syndrome 2B90.Y Orphanet 144 TPD-T0I3GP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T0I3GP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T0PJF3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T0PJF3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T0PJF3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T0PJF3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T0QN6I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T0QN6I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T0QN6I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T0QN6I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T0R81W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T0R81W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T0R81W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T0VG8R Kennedy disease 8B61.4 Orphanet 481 TPD-T0VG8R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T0VG8R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T0VG8R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T0W8KD Noonan syndrome LD2F.15 Orphanet 648 TPD-T0W8KD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T0W8KD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T0W8KD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T0W8KD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T0W8KD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T0W8KD Lynch syndrome 2B90.Y Orphanet 144 TPD-T0W8KD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T0W8KD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T0WFS3 Kennedy disease 8B61.4 Orphanet 481 TPD-T0WFS3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T0WFS3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T0WFS3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T0WFZ2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T0WNMR Von Hippel-Lindau disease 5A75 Orphanet 892 TPD-T0WNMR Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-T0WNMR Chuvash erythrocytosis 3A80.0 Orphanet 238557 TPD-T0WNMR Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-T10E0S Noonan syndrome LD2F.15 Orphanet 648 TPD-T10E0S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T10E0S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T10E0S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T10E0S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T10E0S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T10E0S Lynch syndrome 2B90.Y Orphanet 144 TPD-T10E0S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T10E0S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T128WF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T128WF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T12VU1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T15VAJ Noonan syndrome LD2F.15 Orphanet 648 TPD-T15VAJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T15VAJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T15VAJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T15VAJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T15VAJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T15VAJ Lynch syndrome 2B90.Y Orphanet 144 TPD-T15VAJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T15VAJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T1FVGS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T1FVGS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T1FVGS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T1J9OG Kennedy disease 8B61.4 Orphanet 481 TPD-T1J9OG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T1J9OG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T1J9OG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T1KH5J Familial melanoma QC61.Y Orphanet 618 TPD-T1KH5J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T1LA3Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T1LA3Y Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T1M21O Familial melanoma QC61.Y Orphanet 618 TPD-T1M21O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T1MXFR Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-T1OT9X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T1QLYD Noonan syndrome LD2F.15 Orphanet 648 TPD-T1QLYD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T1QLYD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T1QLYD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T1QLYD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T1QLYD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T1QLYD Lynch syndrome 2B90.Y Orphanet 144 TPD-T1QLYD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T1QLYD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T1T0VO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T1T0VO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-T1T0VO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T1TPU8 Kennedy disease 8B61.4 Orphanet 481 TPD-T1TPU8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T1TPU8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T1TPU8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T1TPZU Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-T1TPZU Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-T1TPZU Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-T1XWO8 Kennedy disease 8B61.4 Orphanet 481 TPD-T1XWO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T1XWO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T1XWO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T1Z292 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T219WY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-T25EHD Noonan syndrome LD2F.15 Orphanet 648 TPD-T25EHD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T25EHD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T25EHD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T25EHD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T25EHD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T25EHD Lynch syndrome 2B90.Y Orphanet 144 TPD-T25EHD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T25EHD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T260NU Weaver syndrome LD2C Orphanet 3447 TPD-T27CRP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T27CRP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T27EKT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T27EKT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T27EKT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T27TBE Kennedy disease 8B61.4 Orphanet 481 TPD-T27TBE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T27TBE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T27TBE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T2J6MJ Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-T2JO07 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T2JO07 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T2KAUX Noonan syndrome LD2F.15 Orphanet 648 TPD-T2KAUX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T2KAUX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T2KAUX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T2KAUX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T2KAUX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T2KAUX Lynch syndrome 2B90.Y Orphanet 144 TPD-T2KAUX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T2KAUX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T2KR5Y Noonan syndrome LD2F.15 Orphanet 648 TPD-T2KR5Y Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-T2O51D Kennedy disease 8B61.4 Orphanet 481 TPD-T2O51D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T2O51D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T2O51D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T2O5G0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T2PUF4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-T2R7TQ Noonan syndrome LD2F.15 Orphanet 648 TPD-T2R7TQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T2R7TQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T2R7TQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T2R7TQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T2R7TQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T2R7TQ Lynch syndrome 2B90.Y Orphanet 144 TPD-T2R7TQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T2R7TQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T2X9XZ Noonan syndrome LD2F.15 Orphanet 648 TPD-T2X9XZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-T2YD7R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T2YD7R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T2YD7R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T2Z0GA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-T312UQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T312UQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T31AJU Noonan syndrome LD2F.15 Orphanet 648 TPD-T31AJU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T31AJU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T31AJU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T31AJU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T31AJU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T31AJU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T31AJU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T31AJU Craniopharyngioma 2F9A Orphanet 54595 TPD-T31AJU Cushing disease 5A70.0 Orphanet 96253 TPD-T31S4K Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T31S4K Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T31ZUP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T31ZUP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T31ZUP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T31ZUP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T34KUY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T34KUY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T34KUY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T391XT Kennedy disease 8B61.4 Orphanet 481 TPD-T391XT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T391XT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T391XT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T39GSV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T39GSV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-T39GSV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T39YI9 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-T3AYTB Kennedy disease 8B61.4 Orphanet 481 TPD-T3AYTB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T3AYTB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T3AYTB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T3G7KZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T3G7KZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T3G7KZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T3MKC5 Noonan syndrome LD2F.15 Orphanet 648 TPD-T3MKC5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T3MKC5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T3MKC5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T3MKC5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T3MKC5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T3MKC5 Lynch syndrome 2B90.Y Orphanet 144 TPD-T3MKC5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T3MKC5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T3N83Z Noonan syndrome LD2F.15 Orphanet 648 TPD-T3N83Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T3N83Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T3N83Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T3N83Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T3N83Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T3N83Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T3N83Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T3N83Z Craniopharyngioma 2F9A Orphanet 54595 TPD-T3N83Z Cushing disease 5A70.0 Orphanet 96253 TPD-T3QOYO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T3TLX1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-T3TSM9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T3TSM9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T3TSM9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T3WS99 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T3WS99 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T406T5 Kennedy disease 8B61.4 Orphanet 481 TPD-T406T5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T406T5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T406T5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T41S36 Noonan syndrome LD2F.15 Orphanet 648 TPD-T41S36 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T41S36 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T41S36 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T41S36 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T41S36 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T41S36 Lynch syndrome 2B90.Y Orphanet 144 TPD-T41S36 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T41S36 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T42TE8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T44YJX Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-T48IJJ Kennedy disease 8B61.4 Orphanet 481 TPD-T48IJJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T48IJJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T48IJJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T49R0P Noonan syndrome LD2F.15 Orphanet 648 TPD-T49R0P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T49R0P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T49R0P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T49R0P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T49R0P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T49R0P Lynch syndrome 2B90.Y Orphanet 144 TPD-T49R0P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T49R0P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T4APVA Kennedy disease 8B61.4 Orphanet 481 TPD-T4APVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T4APVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T4APVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T4B7MY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T4B7MY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T4B7MY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T4B7UR Burkitt lymphoma XH4KA9 Orphanet 543 TPD-T4B7UR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-T4EFSK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-T4EVHY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T4EVHY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T4EVHY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T4EVHY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T4EXHS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T4EXHS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T4H4SQ Kennedy disease 8B61.4 Orphanet 481 TPD-T4H4SQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T4H4SQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T4H4SQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T4JVDI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T4JVDI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T4JVDI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T4OSEA Noonan syndrome LD2F.15 Orphanet 648 TPD-T4OSEA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T4OSEA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T4OSEA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T4OSEA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T4OSEA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T4OSEA Lynch syndrome 2B90.Y Orphanet 144 TPD-T4OSEA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T4OSEA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T4OZ3A Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-T4PMDY Kennedy disease 8B61.4 Orphanet 481 TPD-T4PMDY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T4PMDY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T4PMDY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T4RIE8 Noonan syndrome LD2F.15 Orphanet 648 TPD-T4RIE8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T4RIE8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T4RIE8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T4RIE8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T4RIE8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T4RIE8 Lynch syndrome 2B90.Y Orphanet 144 TPD-T4RIE8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T4RIE8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T4WNUV X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T4WNUV Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T50FF4 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-T50J9C Kennedy disease 8B61.4 Orphanet 481 TPD-T50J9C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T50J9C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T50J9C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T523PH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T53LKM Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-T53LKM Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-T54D9I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T54D9I Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-T54D9I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T55BEX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T56LHN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T56LHN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T594UR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T594UR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T594UR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T5ARUR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T5DG8V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T5DG8V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T5DG8V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T5EDXK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T5HEF8 Kennedy disease 8B61.4 Orphanet 481 TPD-T5HEF8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T5HEF8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T5HEF8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T5HWIX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T5JBC3 Kennedy disease 8B61.4 Orphanet 481 TPD-T5JBC3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T5JBC3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T5JBC3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T5KXXQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T5OPGC Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-T5OPGC CINCA syndrome 4A60.1 Orphanet 1451 TPD-T5OPGC Familial cold urticaria 4A60.1 Orphanet 47045 TPD-T5Q9IO Noonan syndrome LD2F.15 Orphanet 648 TPD-T5Q9IO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T5Q9IO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T5Q9IO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T5Q9IO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T5Q9IO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T5Q9IO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T5Q9IO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T5Q9IO Craniopharyngioma 2F9A Orphanet 54595 TPD-T5Q9IO Cushing disease 5A70.0 Orphanet 96253 TPD-T5RDVF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T5RDVF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T5RDVF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T5STF4 Familial melanoma QC61.Y Orphanet 618 TPD-T5STF4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T5TFS2 Familial melanoma QC61.Y Orphanet 618 TPD-T5TFS2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T5WBZM Kennedy disease 8B61.4 Orphanet 481 TPD-T5WBZM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T5WBZM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T5WBZM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T5X3WN Noonan syndrome LD2F.15 Orphanet 648 TPD-T5X3WN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T5X3WN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T5X3WN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T5X3WN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T5X3WN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T5X3WN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T5X3WN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T5X3WN Craniopharyngioma 2F9A Orphanet 54595 TPD-T5X3WN Cushing disease 5A70.0 Orphanet 96253 TPD-T5YZHZ Noonan syndrome LD2F.15 Orphanet 648 TPD-T5YZHZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-T60O6M Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-T60U7P Noonan syndrome LD2F.15 Orphanet 648 TPD-T60U7P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T60U7P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T60U7P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T60U7P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T60U7P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T60U7P Lynch syndrome 2B90.Y Orphanet 144 TPD-T60U7P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T60U7P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T62JT3 Noonan syndrome LD2F.15 Orphanet 648 TPD-T62JT3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T62JT3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T62JT3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T62JT3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T62JT3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T62JT3 Lynch syndrome 2B90.Y Orphanet 144 TPD-T62JT3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T62JT3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T690A0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-T690A0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-T690A0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-T690A0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-T690A0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-T690A0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-T690A0 Semantic dementia 6D83 Orphanet 100069 TPD-T690A0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-T6A60H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T6A60H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T6BZ8P Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T6H1ID Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T6IDX9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-T6IDX9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-T6JYZP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T6JYZP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T6JYZP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T6LK61 Noonan syndrome LD2F.15 Orphanet 648 TPD-T6LK61 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T6LK61 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T6LK61 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T6LK61 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T6LK61 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T6LK61 Lynch syndrome 2B90.Y Orphanet 144 TPD-T6LK61 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T6LK61 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T6NRB3 Kennedy disease 8B61.4 Orphanet 481 TPD-T6NRB3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T6NRB3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T6NRB3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T6NUDG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T6NUDG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T6NUDG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T6NUDG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T6OSGN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T6OSGN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T6OSGN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T6OSGN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T6QG4Y Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-T6TCFY Noonan syndrome LD2F.15 Orphanet 648 TPD-T6TCFY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T6TCFY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T6TCFY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T6TCFY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T6TCFY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T6TCFY Lynch syndrome 2B90.Y Orphanet 144 TPD-T6TCFY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T6TCFY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T6VAYX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T6VAYX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T6VAYX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T6XO3I Familial melanoma QC61.Y Orphanet 618 TPD-T6XO3I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T6XQPC Familial melanoma QC61.Y Orphanet 618 TPD-T6XQPC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T70LGD Kennedy disease 8B61.4 Orphanet 481 TPD-T70LGD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T70LGD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T70LGD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T74HXU Noonan syndrome LD2F.15 Orphanet 648 TPD-T74HXU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T74HXU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T74HXU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T74HXU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T74HXU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T74HXU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T74HXU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T74HXU Craniopharyngioma 2F9A Orphanet 54595 TPD-T74HXU Cushing disease 5A70.0 Orphanet 96253 TPD-T751AF Kennedy disease 8B61.4 Orphanet 481 TPD-T751AF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T751AF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T751AF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T78R4K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T78R4K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T78R4K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T78R4K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T78VAO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T78VAO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T7AXM4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T7AXM4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T7BP45 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T7BP45 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T7BP45 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T7BP45 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T7C38D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T7C38D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T7CBHT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-T7DZWZ Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-T7DZWZ Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-T7DZWZ Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-T7KUKR Noonan syndrome LD2F.15 Orphanet 648 TPD-T7KUKR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T7KUKR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T7KUKR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T7KUKR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T7KUKR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T7KUKR Lynch syndrome 2B90.Y Orphanet 144 TPD-T7KUKR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T7KUKR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T7LCWA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-T7O54Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-T7O54Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-T7O54Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-T7O54Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-T7RSTT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T7RSTT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T7U9MI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-T7YC4O Kennedy disease 8B61.4 Orphanet 481 TPD-T7YC4O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T7YC4O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T7YC4O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T7YPRI Noonan syndrome LD2F.15 Orphanet 648 TPD-T7YPRI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T7YPRI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T7YPRI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T7YPRI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T7YPRI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T7YPRI Lynch syndrome 2B90.Y Orphanet 144 TPD-T7YPRI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T7YPRI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T8009T Kennedy disease 8B61.4 Orphanet 481 TPD-T8009T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T8009T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T8009T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T83PYS Kennedy disease 8B61.4 Orphanet 481 TPD-T83PYS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T83PYS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T83PYS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T8414J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T8414J Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T86K6U Noonan syndrome LD2F.15 Orphanet 648 TPD-T86K6U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T86K6U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T86K6U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T86K6U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T86K6U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T86K6U Lynch syndrome 2B90.Y Orphanet 144 TPD-T86K6U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T86K6U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T89WUU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-T8AA57 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T8AA57 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T8CMMF Noonan syndrome LD2F.15 Orphanet 648 TPD-T8CMMF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-T8D3K7 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-T8D3K7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-T8ES8Y Burkitt lymphoma XH4KA9 Orphanet 543 TPD-T8ES8Y Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-T8ES8Y Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-T8HCAU Kennedy disease 8B61.4 Orphanet 481 TPD-T8HCAU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T8HCAU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T8HCAU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T8HJ4E Kennedy disease 8B61.4 Orphanet 481 TPD-T8HJ4E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T8HJ4E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T8HJ4E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T8L0R0 Kennedy disease 8B61.4 Orphanet 481 TPD-T8L0R0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T8L0R0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T8L0R0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T8NJ8F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-T8NJ8F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-T8NJ8F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-T8NJ8F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-T8NJ8F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-T8NJ8F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-T8NJ8F Semantic dementia 6D83 Orphanet 100069 TPD-T8NJ8F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-T8QHM5 Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-T8QRS2 Noonan syndrome LD2F.15 Orphanet 648 TPD-T8QRS2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T8QRS2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T8QRS2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T8QRS2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T8QRS2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T8QRS2 Lynch syndrome 2B90.Y Orphanet 144 TPD-T8QRS2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T8QRS2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T8R584 Noonan syndrome LD2F.15 Orphanet 648 TPD-T8R584 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T8R584 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T8R584 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T8R584 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T8R584 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T8R584 Lynch syndrome 2B90.Y Orphanet 144 TPD-T8R584 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T8R584 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T8SDM3 Noonan syndrome LD2F.15 Orphanet 648 TPD-T8SDM3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T8SDM3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T8SDM3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T8SDM3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T8SDM3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T8SDM3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T8SDM3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T8SDM3 Craniopharyngioma 2F9A Orphanet 54595 TPD-T8SDM3 Cushing disease 5A70.0 Orphanet 96253 TPD-T8WTSH Noonan syndrome LD2F.15 Orphanet 648 TPD-T8WTSH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T8WTSH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T8WTSH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T8WTSH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T8WTSH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T8WTSH Lynch syndrome 2B90.Y Orphanet 144 TPD-T8WTSH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T8WTSH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T8X8TP Noonan syndrome LD2F.15 Orphanet 648 TPD-T8X8TP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-T8X8TP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T8X8TP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-T8X8TP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T8X8TP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-T8X8TP Lynch syndrome 2B90.Y Orphanet 144 TPD-T8X8TP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-T8X8TP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-T90AWW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T90AWW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T91ICM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T91S51 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T91S51 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-T92TZJ Kennedy disease 8B61.4 Orphanet 481 TPD-T92TZJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T92TZJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T92TZJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T94XZO Kennedy disease 8B61.4 Orphanet 481 TPD-T94XZO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T94XZO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T94XZO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T96U6X Kennedy disease 8B61.4 Orphanet 481 TPD-T96U6X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T96U6X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T96U6X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T9AL66 Kennedy disease 8B61.4 Orphanet 481 TPD-T9AL66 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T9AL66 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T9AL66 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T9DIGM Kennedy disease 8B61.4 Orphanet 481 TPD-T9DIGM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T9DIGM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T9DIGM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T9DNR6 Kennedy disease 8B61.4 Orphanet 481 TPD-T9DNR6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-T9DNR6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-T9DNR6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-T9E484 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-T9E484 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-T9HCKQ Familial melanoma QC61.Y Orphanet 618 TPD-T9HCKQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T9ICKZ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-T9ICKZ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-T9ICKZ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-T9ICKZ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-T9ICKZ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-T9ICKZ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-T9ICKZ Semantic dementia 6D83 Orphanet 100069 TPD-T9ICKZ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-T9K7QM Noonan syndrome LD2F.15 Orphanet 648 TPD-T9K7QM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-T9K7QM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-T9K7QM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-T9K7QM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-T9K7QM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-T9K7QM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-T9K7QM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-T9K7QM Craniopharyngioma 2F9A Orphanet 54595 TPD-T9K7QM Cushing disease 5A70.0 Orphanet 96253 TPD-T9KP9Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-T9OZ4T Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-T9R4WO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-T9R4WO Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-T9R4WO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-T9RQLN Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-T9SW0A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-T9SW0A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-T9SW0A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-T9VO2G Familial melanoma QC61.Y Orphanet 618 TPD-T9VO2G Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-T9Z02G CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-T9Z8DJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TA22TX Familial melanoma QC61.Y Orphanet 618 TPD-TA22TX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TA8OQ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-TA8OQ5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TA8OQ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TA8OQ5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TA8OQ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TA8OQ5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TA8OQ5 Lynch syndrome 2B90.Y Orphanet 144 TPD-TA8OQ5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TA8OQ5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TADDGH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TADDGH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TADDGH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TADS6Y Noonan syndrome LD2F.15 Orphanet 648 TPD-TADS6Y Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-TAGYBJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-TAHK9I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TAILQ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-TAILQ1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TAILQ1 Metachondromatosis LD24.2Y Orphanet 2499 TPD-TAILQ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TAKUCF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TAMI0U Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-TAN6JH Kennedy disease 8B61.4 Orphanet 481 TPD-TAN6JH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TAN6JH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TAN6JH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TANWDC Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-TARBHZ Kennedy disease 8B61.4 Orphanet 481 TPD-TARBHZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TARBHZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TARBHZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TASQ9N X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TASQ9N Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TAUB9B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TAUB9B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TAUCZM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TAUCZM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TAUCZM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TAUSV3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TAUSV3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TAUSV3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TAUSV3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TAWAGK Familial melanoma QC61.Y Orphanet 618 TPD-TAWAGK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TB0WZ6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-TB0WZ6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-TBEL7W Kennedy disease 8B61.4 Orphanet 481 TPD-TBEL7W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TBEL7W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TBEL7W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TBH0V9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TBH0V9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TBH0V9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TBL3S5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TBL3S5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TBNA6W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TBNA6W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TBNA6W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TBP744 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TBP744 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TBP744 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TBR2AM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TBR2AM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TBYZ7O Kennedy disease 8B61.4 Orphanet 481 TPD-TBYZ7O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TBYZ7O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TBYZ7O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TC1CB6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TC1CB6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TC1CB6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TC3V5Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TC6UBY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TC6UBY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TC7QQN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-TC99Z4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TC99Z4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TCAU23 Kennedy disease 8B61.4 Orphanet 481 TPD-TCAU23 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TCAU23 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TCAU23 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TCDO8I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TCFU4P Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TCFU4P Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TCFU4P B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TCG04A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TCG04A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TCG04A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TCJIRS Kennedy disease 8B61.4 Orphanet 481 TPD-TCJIRS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TCJIRS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TCJIRS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TCJXYP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TCLLLB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TCLLLB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TCMXXF Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-TCMXXF CINCA syndrome 4A60.1 Orphanet 1451 TPD-TCMXXF Familial cold urticaria 4A60.1 Orphanet 47045 TPD-TCNLE6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TCNLE6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TCNLE6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TCNLE6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TCPDMQ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-TCQX2S Kennedy disease 8B61.4 Orphanet 481 TPD-TCQX2S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TCQX2S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TCQX2S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TCT9XF Kennedy disease 8B61.4 Orphanet 481 TPD-TCT9XF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TCT9XF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TCT9XF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TCTT6A Kennedy disease 8B61.4 Orphanet 481 TPD-TCTT6A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TCTT6A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TCTT6A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TCUZVN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TCUZVN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TCUZVN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TCUZVN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TCXTZ3 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TCZR45 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-TCZR45 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-TD1RX8 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-TD1RX8 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-TD1RX8 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-TD1RX8 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-TD1RX8 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-TD1RX8 Polycythemia vera 2A20.4 Orphanet 729 TPD-TD1RX8 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-TD54R5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TD76CV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TD76CV Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TD76CV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TD7TWT Kennedy disease 8B61.4 Orphanet 481 TPD-TD7TWT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TD7TWT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TD7TWT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TDBGSM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TDBGSM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TDC94S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TDC94S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TDC94S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TDEKKD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TDFCTP Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-TDFCTP Wilson-Turner syndrome LD29 Orphanet 3459 TPD-TDIJSL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TDJKZX Kennedy disease 8B61.4 Orphanet 481 TPD-TDJKZX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TDJKZX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TDJKZX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TDO6A2 Familial melanoma QC61.Y Orphanet 618 TPD-TDO6A2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TDOTF4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TDOTF4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TDQ0VT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TDQ0VT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TDQ0VT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TDQ0VT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TDQLIK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TDQLIK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TDQLIK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TDQLIK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TDS0UY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TDVRN5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TDVRN5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TDY58A Familial melanoma QC61.Y Orphanet 618 TPD-TDY58A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TDYR58 Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-TDZDJ9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TDZDJ9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TDZDJ9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TE1YQB Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-TE3EIK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TE3EIK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TE83GD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TE83GD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TE9G1X Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TE9G1X Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TE9G1X Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TEA2BC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TEA2BC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TEA2BC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TEAP70 Familial melanoma QC61.Y Orphanet 618 TPD-TEAP70 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TEB6YD Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-TEB6YD Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-TEB6YD Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-TEB6YD Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-TEB6YD Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-TEB6YD Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-TEB6YD Semantic dementia 6D83 Orphanet 100069 TPD-TEB6YD Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-TEBLH2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TEBLH2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TEBLH2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TEG77B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TEG7D2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TEG7D2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TEG7D2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TEG7D2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TEJAQA Kennedy disease 8B61.4 Orphanet 481 TPD-TEJAQA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TEJAQA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TEJAQA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TEKWLD Kennedy disease 8B61.4 Orphanet 481 TPD-TEKWLD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TEKWLD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TEKWLD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TEMP5P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TEMP5P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TEMP5P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TEONLH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TET2HB Noonan syndrome LD2F.15 Orphanet 648 TPD-TET2HB Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-TEV980 Kennedy disease 8B61.4 Orphanet 481 TPD-TEV980 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TEV980 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TEV980 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TEVLNE Noonan syndrome LD2F.15 Orphanet 648 TPD-TEVLNE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TEVLNE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TEVLNE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TEVLNE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TEVLNE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TEVLNE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TEVLNE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TEVLNE Craniopharyngioma 2F9A Orphanet 54595 TPD-TEVLNE Cushing disease 5A70.0 Orphanet 96253 TPD-TEVT3W Noonan syndrome LD2F.15 Orphanet 648 TPD-TEVT3W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TEVT3W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TEVT3W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TEVT3W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TEVT3W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TEVT3W Lynch syndrome 2B90.Y Orphanet 144 TPD-TEVT3W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TEVT3W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TEWQB4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TEY6AU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TEY6AU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TEZZO8 Noonan syndrome LD2F.15 Orphanet 648 TPD-TEZZO8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TEZZO8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TEZZO8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TEZZO8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TEZZO8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TEZZO8 Lynch syndrome 2B90.Y Orphanet 144 TPD-TEZZO8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TEZZO8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TF3MAK Kennedy disease 8B61.4 Orphanet 481 TPD-TF3MAK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TF3MAK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TF3MAK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TF449Y Noonan syndrome LD2F.15 Orphanet 648 TPD-TF449Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TF449Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TF449Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TF449Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TF449Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TF449Y Lynch syndrome 2B90.Y Orphanet 144 TPD-TF449Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TF449Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TFAH1Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TFAH1Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TFAH1Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TFAH1Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TFGL00 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TFH8QZ Kennedy disease 8B61.4 Orphanet 481 TPD-TFH8QZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TFH8QZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TFH8QZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TFI9ON Noonan syndrome LD2F.15 Orphanet 648 TPD-TFI9ON Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TFI9ON Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TFI9ON Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TFI9ON Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TFI9ON Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TFI9ON Lynch syndrome 2B90.Y Orphanet 144 TPD-TFI9ON Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TFI9ON Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TFIJ30 Kennedy disease 8B61.4 Orphanet 481 TPD-TFIJ30 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TFIJ30 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TFIJ30 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TFM39W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TFON1T Noonan syndrome LD2F.15 Orphanet 648 TPD-TFON1T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TFON1T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TFON1T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TFON1T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TFON1T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TFON1T Lynch syndrome 2B90.Y Orphanet 144 TPD-TFON1T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TFON1T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TFQK0I Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TFQK0I Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TFQK0I Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TFS64Z Noonan syndrome LD2F.15 Orphanet 648 TPD-TFS64Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TFS64Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TFS64Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TFS64Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TFS64Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TFS64Z Lynch syndrome 2B90.Y Orphanet 144 TPD-TFS64Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TFS64Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TFS7UG Familial melanoma QC61.Y Orphanet 618 TPD-TFS7UG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TFSCVL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TFWHNY Noonan syndrome LD2F.15 Orphanet 648 TPD-TFWHNY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TFWHNY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TFWHNY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TFWHNY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TFWHNY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TFWHNY Lynch syndrome 2B90.Y Orphanet 144 TPD-TFWHNY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TFWHNY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TFX855 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TFYQU4 Noonan syndrome LD2F.15 Orphanet 648 TPD-TFYQU4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TFYQU4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TFYQU4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TFYQU4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TFYQU4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TFYQU4 Lynch syndrome 2B90.Y Orphanet 144 TPD-TFYQU4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TFYQU4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TG0XG6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TG0XG6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TG1LGN Noonan syndrome LD2F.15 Orphanet 648 TPD-TG1LGN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TG1LGN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TG1LGN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TG1LGN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TG1LGN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TG1LGN Lynch syndrome 2B90.Y Orphanet 144 TPD-TG1LGN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TG1LGN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TG28SL Kennedy disease 8B61.4 Orphanet 481 TPD-TG28SL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TG28SL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TG28SL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TG5IL4 Kennedy disease 8B61.4 Orphanet 481 TPD-TG5IL4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TG5IL4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TG5IL4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TG89SX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TG89SX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TG89SX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TGAH4H Noonan syndrome LD2F.15 Orphanet 648 TPD-TGAH4H Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TGAH4H Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TGAH4H Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TGAH4H Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TGAH4H Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TGAH4H Lynch syndrome 2B90.Y Orphanet 144 TPD-TGAH4H Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TGAH4H Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TGCSJP Noonan syndrome LD2F.15 Orphanet 648 TPD-TGCSJP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TGCSJP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TGCSJP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TGCSJP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TGCSJP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TGCSJP Lynch syndrome 2B90.Y Orphanet 144 TPD-TGCSJP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TGCSJP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TGDF4G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TGDF4G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TGEI5P Kennedy disease 8B61.4 Orphanet 481 TPD-TGEI5P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TGEI5P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TGEI5P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TGG038 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-TGHCF3 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-TGIX0L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TGIX0L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TGIX0L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TGIX0L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TGJWTH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TGJWTH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TGJWTH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TGJWTH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TGLQAH Kennedy disease 8B61.4 Orphanet 481 TPD-TGLQAH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TGLQAH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TGLQAH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TGN2WG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TGQM9E Familial melanoma QC61.Y Orphanet 618 TPD-TGQM9E Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TGRHWK Kennedy disease 8B61.4 Orphanet 481 TPD-TGRHWK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TGRHWK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TGRHWK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TGVFJL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TGVFJL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TGVFJL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TGXKRX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TGXKRX Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TGXKRX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TH1J0J Kennedy disease 8B61.4 Orphanet 481 TPD-TH1J0J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TH1J0J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TH1J0J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TH25HM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TH25HM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TH25HM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TH2T03 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TH2T03 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TH2T03 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TH3BXO Familial melanoma QC61.Y Orphanet 618 TPD-TH3BXO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TH3G0Y Estrogen resistance syndrome 5A90 Orphanet 785 TPD-THB87U B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-THB87U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-THB87U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-THCA0I Noonan syndrome LD2F.15 Orphanet 648 TPD-THCA0I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-THCA0I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-THCA0I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-THCA0I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-THCA0I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-THCA0I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-THCA0I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-THCA0I Craniopharyngioma 2F9A Orphanet 54595 TPD-THCA0I Cushing disease 5A70.0 Orphanet 96253 TPD-THGLP7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-THGLP7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-THHD7V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-THHD7V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-THKVNC Kennedy disease 8B61.4 Orphanet 481 TPD-THKVNC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-THKVNC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-THKVNC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-THRKGK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-THRKGK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-THRKGK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-THRKGK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-THRX1B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-THTEN8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-THTT9F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-THTT9F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-THU6F5 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-THU6F5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-THU6F5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-THV8NW Kennedy disease 8B61.4 Orphanet 481 TPD-THV8NW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-THV8NW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-THV8NW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-THXQNW Noonan syndrome LD2F.15 Orphanet 648 TPD-THXQNW Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-THYTUH Kennedy disease 8B61.4 Orphanet 481 TPD-THYTUH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-THYTUH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-THYTUH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-THYXHR Kennedy disease 8B61.4 Orphanet 481 TPD-THYXHR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-THYXHR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-THYXHR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TI1I8D Kennedy disease 8B61.4 Orphanet 481 TPD-TI1I8D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TI1I8D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TI1I8D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TI5DM5 Noonan syndrome LD2F.15 Orphanet 648 TPD-TI5DM5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TI5DM5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TI5DM5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TI5DM5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TI5DM5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TI5DM5 Lynch syndrome 2B90.Y Orphanet 144 TPD-TI5DM5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TI5DM5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TI9OIZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TIB6JP Noonan syndrome LD2F.15 Orphanet 648 TPD-TIB6JP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TIB6JP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TIB6JP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TIB6JP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TIB6JP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TIB6JP Lynch syndrome 2B90.Y Orphanet 144 TPD-TIB6JP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TIB6JP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TICHGO Familial melanoma QC61.Y Orphanet 618 TPD-TICHGO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TIE5J3 Kennedy disease 8B61.4 Orphanet 481 TPD-TIE5J3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TIE5J3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TIE5J3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TIIISA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TIIISA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TIO2IQ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-TIO2IQ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-TIO2IQ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-TIO2IQ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-TIO2IQ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-TIO2IQ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-TIO2IQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TIO2IQ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-TIO2IQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-TIQ0EW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TIT6MP Noonan syndrome LD2F.15 Orphanet 648 TPD-TIT6MP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TIT6MP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TIT6MP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TIT6MP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TIT6MP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TIT6MP Lynch syndrome 2B90.Y Orphanet 144 TPD-TIT6MP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TIT6MP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TITJYU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TJ3EIW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TJ7L1B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TJA1EE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TJA1EE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TJBFJ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TJBFJ4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TJCKRS Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-TJHD3U Kennedy disease 8B61.4 Orphanet 481 TPD-TJHD3U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TJHD3U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TJHD3U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TJM27Q Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TJM27Q Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TJM27Q Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TJP7G3 Kennedy disease 8B61.4 Orphanet 481 TPD-TJP7G3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TJP7G3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TJP7G3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TJQ7VJ Kennedy disease 8B61.4 Orphanet 481 TPD-TJQ7VJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TJQ7VJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TJQ7VJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TJT65B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TJT65B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TJT65B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TJT65B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TJU54U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TJU54U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TJU54U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TJWSGB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TJWSGB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TJWSGB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TJYVJ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TJZX49 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TJZX49 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TJZX49 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TK3PYN Kennedy disease 8B61.4 Orphanet 481 TPD-TK3PYN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TK3PYN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TK3PYN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TK97WB Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-TK97WB Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-TK97WB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-TK97WB Distal myopathy, Welander type 8C75 Orphanet 603 TPD-TK9K7W Kennedy disease 8B61.4 Orphanet 481 TPD-TK9K7W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TK9K7W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TK9K7W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TKBCXI Kennedy disease 8B61.4 Orphanet 481 TPD-TKBCXI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TKBCXI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TKBCXI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TKBKNH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TKBXMH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TKBXMH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TKDDI0 Noonan syndrome LD2F.15 Orphanet 648 TPD-TKDDI0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TKDDI0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TKDDI0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TKDDI0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TKDDI0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TKDDI0 Lynch syndrome 2B90.Y Orphanet 144 TPD-TKDDI0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TKDDI0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TKE19X Noonan syndrome LD2F.15 Orphanet 648 TPD-TKE19X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TKE19X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TKE19X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TKE19X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TKE19X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TKE19X Lynch syndrome 2B90.Y Orphanet 144 TPD-TKE19X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TKE19X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TKH0LL Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-TKI4QK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TKI65X Kennedy disease 8B61.4 Orphanet 481 TPD-TKI65X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TKI65X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TKI65X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TKMKRV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TKMQV8 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-TKMQV8 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-TKN4C1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TKN4C1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TKN4C1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TKN4C1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TKS3GI Kennedy disease 8B61.4 Orphanet 481 TPD-TKS3GI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TKS3GI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TKS3GI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TKVMDQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TKWPHA Noonan syndrome LD2F.15 Orphanet 648 TPD-TKWPHA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TKWPHA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TKWPHA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TKWPHA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TKWPHA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TKWPHA Lynch syndrome 2B90.Y Orphanet 144 TPD-TKWPHA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TKWPHA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TL1AUI Noonan syndrome LD2F.15 Orphanet 648 TPD-TL1AUI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TL1AUI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TL1AUI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TL1AUI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TL1AUI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TL1AUI Lynch syndrome 2B90.Y Orphanet 144 TPD-TL1AUI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TL1AUI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TL1FGK Kennedy disease 8B61.4 Orphanet 481 TPD-TL1FGK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TL1FGK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TL1FGK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TL6U2B Noonan syndrome LD2F.15 Orphanet 648 TPD-TL6U2B Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-TL9JB8 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-TL9JB8 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-TLDHBB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TLDJ2R Kennedy disease 8B61.4 Orphanet 481 TPD-TLDJ2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TLDJ2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TLDJ2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TLDLIJ Noonan syndrome LD2F.15 Orphanet 648 TPD-TLDLIJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TLDLIJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TLDLIJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TLDLIJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TLDLIJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TLDLIJ Lynch syndrome 2B90.Y Orphanet 144 TPD-TLDLIJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TLDLIJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TLH756 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TLH756 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TLH756 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TLJ3A6 Noonan syndrome LD2F.15 Orphanet 648 TPD-TLJ3A6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TLJ3A6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TLJ3A6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TLJ3A6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TLJ3A6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TLJ3A6 Lynch syndrome 2B90.Y Orphanet 144 TPD-TLJ3A6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TLJ3A6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TLKSZW Weaver syndrome LD2C Orphanet 3447 TPD-TLLNKU Kennedy disease 8B61.4 Orphanet 481 TPD-TLLNKU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TLLNKU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TLLNKU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TLRZ12 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TLRZ12 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TLX38R Kennedy disease 8B61.4 Orphanet 481 TPD-TLX38R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TLX38R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TLX38R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TLZCC7 Kennedy disease 8B61.4 Orphanet 481 TPD-TLZCC7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TLZCC7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TLZCC7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TM12OT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TM12OT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TM12OT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TM1ALQ Noonan syndrome LD2F.15 Orphanet 648 TPD-TM1ALQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TM1ALQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TM1ALQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TM1ALQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TM1ALQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TM1ALQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TM1ALQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TM1ALQ Craniopharyngioma 2F9A Orphanet 54595 TPD-TM1ALQ Cushing disease 5A70.0 Orphanet 96253 TPD-TM6QLN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TM8077 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TM8077 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TM8077 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TM8077 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TM9LYG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-TM9LYG Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-TM9LYG Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-TM9LYG Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-TM9LYG Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-TM9LYG Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-TM9LYG Semantic dementia 6D83 Orphanet 100069 TPD-TM9LYG Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-TMB9RD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TMB9RD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TMB9RD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TMB9RD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TMG5D1 Noonan syndrome LD2F.15 Orphanet 648 TPD-TMG5D1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TMG5D1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TMG5D1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TMG5D1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TMG5D1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TMG5D1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TMG5D1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TMG5D1 Craniopharyngioma 2F9A Orphanet 54595 TPD-TMG5D1 Cushing disease 5A70.0 Orphanet 96253 TPD-TMH4RD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TMH4RD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TMH4RD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TMI2K8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TMI2K8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TMI2K8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TMI2K8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TMJ655 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TMJ655 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TMJQA8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TMM554 Kennedy disease 8B61.4 Orphanet 481 TPD-TMM554 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TMM554 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TMM554 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TMO37K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TMO37K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TMSBGS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TMSBGS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TMSBGS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TMSBGS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TMUJXT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TMUMCR Kennedy disease 8B61.4 Orphanet 481 TPD-TMUMCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TMUMCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TMUMCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TMV7SY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TMX8RP Kennedy disease 8B61.4 Orphanet 481 TPD-TMX8RP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TMX8RP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TMX8RP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TN143D Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TN143D Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TN143D Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TN9U46 Kennedy disease 8B61.4 Orphanet 481 TPD-TN9U46 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TN9U46 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TN9U46 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TNA1R1 Noonan syndrome LD2F.15 Orphanet 648 TPD-TNA1R1 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-TNANKJ Kennedy disease 8B61.4 Orphanet 481 TPD-TNANKJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TNANKJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TNANKJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TNCVLU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TNCVLU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TNFR3R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TNHFG7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TNHFG7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TNHFG7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TNKD0N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TNL5DU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TNL5DU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TNL5DU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TNL5DU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TNPH1V Burkitt lymphoma XH4KA9 Orphanet 543 TPD-TNPH1V Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-TNQRDR Noonan syndrome LD2F.15 Orphanet 648 TPD-TNQRDR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TNQRDR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TNQRDR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TNQRDR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TNQRDR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TNQRDR Lynch syndrome 2B90.Y Orphanet 144 TPD-TNQRDR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TNQRDR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TNQXA5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TNR4CB Noonan syndrome LD2F.15 Orphanet 648 TPD-TNR4CB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TNR4CB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TNR4CB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TNR4CB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TNR4CB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TNR4CB Lynch syndrome 2B90.Y Orphanet 144 TPD-TNR4CB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TNR4CB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TNWTL9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TNWTL9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TNWTL9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TNWTL9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TO10B7 Kennedy disease 8B61.4 Orphanet 481 TPD-TO10B7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TO10B7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TO10B7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TO14J3 Noonan syndrome LD2F.15 Orphanet 648 TPD-TO14J3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TO14J3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TO14J3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TO14J3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TO14J3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TO14J3 Lynch syndrome 2B90.Y Orphanet 144 TPD-TO14J3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TO14J3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TO1RW4 Familial melanoma QC61.Y Orphanet 618 TPD-TO1RW4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TO2POB Noonan syndrome LD2F.15 Orphanet 648 TPD-TO2POB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TO2POB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TO2POB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TO2POB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TO2POB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TO2POB Lynch syndrome 2B90.Y Orphanet 144 TPD-TO2POB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TO2POB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TO321F Kennedy disease 8B61.4 Orphanet 481 TPD-TO321F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TO321F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TO321F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TO36EI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TO36EI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TO36EI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TO9J8L CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TOA0VT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TOA0VT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TOA0VT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TOA0VT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TOC85O Kennedy disease 8B61.4 Orphanet 481 TPD-TOC85O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TOC85O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TOC85O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TOG5SM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TOG5SM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TOG5SM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TOG5SM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TOGDHU Kennedy disease 8B61.4 Orphanet 481 TPD-TOGDHU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TOGDHU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TOGDHU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TOPIRH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TOXK3I Noonan syndrome LD2F.15 Orphanet 648 TPD-TOXK3I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TOXK3I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TOXK3I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TOXK3I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TOXK3I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TOXK3I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TOXK3I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TOXK3I Craniopharyngioma 2F9A Orphanet 54595 TPD-TOXK3I Cushing disease 5A70.0 Orphanet 96253 TPD-TOYJFN Noonan syndrome LD2F.15 Orphanet 648 TPD-TOYJFN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TOYJFN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TOYJFN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TOYJFN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TOYJFN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TOYJFN Lynch syndrome 2B90.Y Orphanet 144 TPD-TOYJFN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TOYJFN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TPAJXW Noonan syndrome LD2F.15 Orphanet 648 TPD-TPAJXW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TPAJXW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TPAJXW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TPAJXW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TPAJXW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TPAJXW Lynch syndrome 2B90.Y Orphanet 144 TPD-TPAJXW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TPAJXW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TPEJ6Q Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-TPEJ6Q Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-TPEJ6Q Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-TPEJ6Q Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-TPEJ6Q Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-TPEJ6Q Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-TPEJ6Q Semantic dementia 6D83 Orphanet 100069 TPD-TPEJ6Q Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-TPGRBZ Noonan syndrome LD2F.15 Orphanet 648 TPD-TPGRBZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TPGRBZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TPGRBZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TPGRBZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TPGRBZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TPGRBZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TPGRBZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TPGRBZ Craniopharyngioma 2F9A Orphanet 54595 TPD-TPGRBZ Cushing disease 5A70.0 Orphanet 96253 TPD-TPGY5O Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TPGY5O Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TPH0A1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TPH0A1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TPILKV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TPILKV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TPILKV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TPJ1S0 Kennedy disease 8B61.4 Orphanet 481 TPD-TPJ1S0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TPJ1S0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TPJ1S0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TPL9DN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TPL9DN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TPL9DN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TPPHQK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TPQB2G Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TPQBG3 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-TPQBG3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TPQBG3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TPQBG3 Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-TPQBG3 Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-TPQBG3 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-TPQBG3 Osteosarcoma 2B51 Orphanet 668 TPD-TPQBG3 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-TPQBG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TPQBG3 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-TPQBG3 Small cell lung cancer 2C25.1 Orphanet 70573 TPD-TPQBG3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TPQBG3 Cushing disease 5A70.0 Orphanet 96253 TPD-TPQBG3 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-TPQBG3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TPQPY9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TPQPY9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TPQPY9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TPRO2J Noonan syndrome LD2F.15 Orphanet 648 TPD-TPRO2J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TPRO2J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TPRO2J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TPRO2J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TPRO2J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TPRO2J Lynch syndrome 2B90.Y Orphanet 144 TPD-TPRO2J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TPRO2J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TPYNO7 Noonan syndrome LD2F.15 Orphanet 648 TPD-TPYNO7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TPYNO7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TPYNO7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TPYNO7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TPYNO7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TPYNO7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TPYNO7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TPYNO7 Craniopharyngioma 2F9A Orphanet 54595 TPD-TPYNO7 Cushing disease 5A70.0 Orphanet 96253 TPD-TQ3G22 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TQ3G22 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TQ3G22 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TQ3G22 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TQ4781 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-TQ4781 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-TQ4781 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-TQ4781 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-TQ4781 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-TQ4781 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-TQ4781 Semantic dementia 6D83 Orphanet 100069 TPD-TQ4781 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-TQ6IIM Kennedy disease 8B61.4 Orphanet 481 TPD-TQ6IIM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TQ6IIM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TQ6IIM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TQ6KSJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TQ6KSJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TQ6KSJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TQ8U3C Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-TQ8U3C Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-TQ9HKJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TQA2XB Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-TQA2XB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TQA2XB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TQA2XB Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-TQA2XB Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-TQA2XB Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-TQA2XB Osteosarcoma 2B51 Orphanet 668 TPD-TQA2XB Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-TQA2XB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TQA2XB Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-TQA2XB Small cell lung cancer 2C25.1 Orphanet 70573 TPD-TQA2XB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TQA2XB Cushing disease 5A70.0 Orphanet 96253 TPD-TQA2XB Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-TQA2XB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TQDX25 Kennedy disease 8B61.4 Orphanet 481 TPD-TQDX25 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TQDX25 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TQDX25 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TQE3UN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TQIHMG Kennedy disease 8B61.4 Orphanet 481 TPD-TQIHMG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TQIHMG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TQIHMG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TQJTBQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TQJTBQ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TQLABD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TQLABD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TQLIX6 Familial melanoma QC61.Y Orphanet 618 TPD-TQLIX6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TQN26T X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TQN26T Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TQO03Q CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TQQMSZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TQQMSZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TQSWGE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TQU5NB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TQU5NB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TQV9S1 Kennedy disease 8B61.4 Orphanet 481 TPD-TQV9S1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TQV9S1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TQV9S1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TQVA57 Kennedy disease 8B61.4 Orphanet 481 TPD-TQVA57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TQVA57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TQVA57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TQZKFD Noonan syndrome LD2F.15 Orphanet 648 TPD-TQZKFD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TQZKFD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TQZKFD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TQZKFD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TQZKFD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TQZKFD Lynch syndrome 2B90.Y Orphanet 144 TPD-TQZKFD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TQZKFD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TR2BPA Kennedy disease 8B61.4 Orphanet 481 TPD-TR2BPA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TR2BPA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TR2BPA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TR43RJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TR4N6Y Noonan syndrome LD2F.15 Orphanet 648 TPD-TR4N6Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TR4N6Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TR4N6Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TR4N6Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TR4N6Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TR4N6Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TR4N6Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TR4N6Y Craniopharyngioma 2F9A Orphanet 54595 TPD-TR4N6Y Cushing disease 5A70.0 Orphanet 96253 TPD-TR7NU0 Familial melanoma QC61.Y Orphanet 618 TPD-TR7NU0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TREG2C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TREG2C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TREG2C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TREG2C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TRFV2X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TRFV2X Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TRFV2X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TRH818 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TRH818 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TRL5BC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TRL5BC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TRL5BC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TRL5BC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TRME1B Noonan syndrome LD2F.15 Orphanet 648 TPD-TRME1B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TRME1B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TRME1B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TRME1B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TRME1B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TRME1B Lynch syndrome 2B90.Y Orphanet 144 TPD-TRME1B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TRME1B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TRMQEV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TRN6FE Noonan syndrome LD2F.15 Orphanet 648 TPD-TRN6FE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TRN6FE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TRN6FE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TRN6FE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TRN6FE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TRN6FE Lynch syndrome 2B90.Y Orphanet 144 TPD-TRN6FE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TRN6FE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TRRILI Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-TRTK2K Kennedy disease 8B61.4 Orphanet 481 TPD-TRTK2K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TRTK2K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TRTK2K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TRVWIQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TRVWIQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TRVWIQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TRVWIQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TRZWMX Kennedy disease 8B61.4 Orphanet 481 TPD-TRZWMX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TRZWMX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TRZWMX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TS0243 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-TS25AB Kennedy disease 8B61.4 Orphanet 481 TPD-TS25AB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TS25AB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TS25AB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TS3Q3P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TS3Q3P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TS6MW0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TS8B3G Kennedy disease 8B61.4 Orphanet 481 TPD-TS8B3G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TS8B3G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TS8B3G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TS8UM0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TS8UM0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TS8UM0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TS8UM0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TSE223 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TSE223 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TSE223 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TSH3L0 Progressive familial intrahepatic cholestasis type 5 5C58.03 Orphanet 480476 TPD-TSH3L0 Intrahepatic cholestasis of pregnancy JA65.0 Orphanet 69665 TPD-TSITFX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TSITFX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TSITFX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TSITFX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TSORFC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TSPVGO Kennedy disease 8B61.4 Orphanet 481 TPD-TSPVGO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TSPVGO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TSPVGO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TSUPGY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TSUPGY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TSUWKE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TSUWKE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TSUWKE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TSUWKE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TSVUKA Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-TSY1BY Burkitt lymphoma XH4KA9 Orphanet 543 TPD-TSY1BY Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-TSY1BY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-TT2DTK Kennedy disease 8B61.4 Orphanet 481 TPD-TT2DTK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TT2DTK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TT2DTK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TT41DV Familial melanoma QC61.Y Orphanet 618 TPD-TT41DV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TT4TVP Kennedy disease 8B61.4 Orphanet 481 TPD-TT4TVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TT4TVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TT4TVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TT5SIC Noonan syndrome LD2F.15 Orphanet 648 TPD-TT5SIC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TT5SIC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TT5SIC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TT5SIC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TT5SIC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TT5SIC Lynch syndrome 2B90.Y Orphanet 144 TPD-TT5SIC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TT5SIC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TT5YLU Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-TT5YLU Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-TT5YLU Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-TT5YLU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-TT5YLU Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-TT5YLU Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-TT5YLU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TT5YLU Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-TT5YLU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-TTEZCR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TTFA69 Noonan syndrome LD2F.15 Orphanet 648 TPD-TTFA69 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TTFA69 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TTFA69 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TTFA69 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TTFA69 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TTFA69 Lynch syndrome 2B90.Y Orphanet 144 TPD-TTFA69 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TTFA69 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TTI4R2 Noonan syndrome LD2F.15 Orphanet 648 TPD-TTI4R2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TTI4R2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TTI4R2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TTI4R2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TTI4R2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TTI4R2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TTI4R2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TTI4R2 Craniopharyngioma 2F9A Orphanet 54595 TPD-TTI4R2 Cushing disease 5A70.0 Orphanet 96253 TPD-TTI4R2 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-TTK8MX Noonan syndrome LD2F.15 Orphanet 648 TPD-TTK8MX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TTK8MX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TTK8MX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TTK8MX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TTK8MX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TTK8MX Lynch syndrome 2B90.Y Orphanet 144 TPD-TTK8MX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TTK8MX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TTMVS5 Noonan syndrome LD2F.15 Orphanet 648 TPD-TTMVS5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TTMVS5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TTMVS5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TTMVS5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TTMVS5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TTMVS5 Lynch syndrome 2B90.Y Orphanet 144 TPD-TTMVS5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TTMVS5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TTN51N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TTNRSF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TTNSO2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TTPR5X Kennedy disease 8B61.4 Orphanet 481 TPD-TTPR5X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TTPR5X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TTPR5X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TTPYW0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TTPYW0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TTPYW0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TTSDSU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TTSDSU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TTVH4R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TTVH4R Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TTVH4R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TTYD5H Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TTYD5H Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TU0HUH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TU3H71 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TU3I4J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TU59FQ Familial melanoma QC61.Y Orphanet 618 TPD-TU59FQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TU6DA8 Weaver syndrome LD2C Orphanet 3447 TPD-TU9F23 Noonan syndrome LD2F.15 Orphanet 648 TPD-TU9F23 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TU9F23 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TU9F23 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TU9F23 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TU9F23 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TU9F23 Lynch syndrome 2B90.Y Orphanet 144 TPD-TU9F23 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TU9F23 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TU9SKS Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-TU9SKS Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-TUA9KG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TUEGOV Kennedy disease 8B61.4 Orphanet 481 TPD-TUEGOV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TUEGOV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TUEGOV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TUEHVB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TUFNEC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TUFNEC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TUKOEF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TUKOEF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TUKOEF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TUKOEF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TULKL6 Kennedy disease 8B61.4 Orphanet 481 TPD-TULKL6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TULKL6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TULKL6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TULPPV Noonan syndrome LD2F.15 Orphanet 648 TPD-TULPPV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TULPPV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TULPPV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TULPPV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TULPPV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TULPPV Lynch syndrome 2B90.Y Orphanet 144 TPD-TULPPV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TULPPV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TUMITX Noonan syndrome LD2F.15 Orphanet 648 TPD-TUMITX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TUMITX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TUMITX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TUMITX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TUMITX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TUMITX Lynch syndrome 2B90.Y Orphanet 144 TPD-TUMITX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TUMITX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TUMUK0 Familial melanoma QC61.Y Orphanet 618 TPD-TUMUK0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TUOVEN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TUP599 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TUPB6L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TUPB6L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TUPB6L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TUSSE0 Noonan syndrome LD2F.15 Orphanet 648 TPD-TUSSE0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TUSSE0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TUSSE0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TUSSE0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TUSSE0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TUSSE0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TUSSE0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TUSSE0 Craniopharyngioma 2F9A Orphanet 54595 TPD-TUSSE0 Cushing disease 5A70.0 Orphanet 96253 TPD-TUTWRI Noonan syndrome LD2F.15 Orphanet 648 TPD-TUTWRI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TUTWRI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TUTWRI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TUTWRI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TUTWRI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TUTWRI Lynch syndrome 2B90.Y Orphanet 144 TPD-TUTWRI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TUTWRI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TUX0T0 Noonan syndrome LD2F.15 Orphanet 648 TPD-TUX0T0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TUX0T0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TUX0T0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TUX0T0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TUX0T0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TUX0T0 Lynch syndrome 2B90.Y Orphanet 144 TPD-TUX0T0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TUX0T0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TUYM6O Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TV078A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TV078A Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TV0TST Kennedy disease 8B61.4 Orphanet 481 TPD-TV0TST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TV0TST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TV0TST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TV1DVF Noonan syndrome LD2F.15 Orphanet 648 TPD-TV1DVF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TV1DVF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TV1DVF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TV1DVF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TV1DVF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TV1DVF Lynch syndrome 2B90.Y Orphanet 144 TPD-TV1DVF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TV1DVF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TV56OD Noonan syndrome LD2F.15 Orphanet 648 TPD-TV56OD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TV56OD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TV56OD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TV56OD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TV56OD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TV56OD Lynch syndrome 2B90.Y Orphanet 144 TPD-TV56OD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TV56OD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TV8ANV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TV8ANV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TV8ANV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TVBS8X Familial melanoma QC61.Y Orphanet 618 TPD-TVBS8X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TVBT13 Noonan syndrome LD2F.15 Orphanet 648 TPD-TVBT13 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TVBT13 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TVBT13 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TVBT13 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TVBT13 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TVBT13 Lynch syndrome 2B90.Y Orphanet 144 TPD-TVBT13 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TVBT13 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TVFR1C Kennedy disease 8B61.4 Orphanet 481 TPD-TVFR1C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TVFR1C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TVFR1C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TVLRTK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TVOZDY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TVOZDY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TVRVQK Kennedy disease 8B61.4 Orphanet 481 TPD-TVRVQK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TVRVQK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TVRVQK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TVU28C Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-TVUQJO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TVUQJO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TVUQJO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TVVNH0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TVVNH0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TW1VRW Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-TW4G7I Noonan syndrome LD2F.15 Orphanet 648 TPD-TW4G7I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TW4G7I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TW4G7I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TW4G7I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TW4G7I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TW4G7I Lynch syndrome 2B90.Y Orphanet 144 TPD-TW4G7I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TW4G7I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TW5C1L Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TW5KO0 Familial melanoma QC61.Y Orphanet 618 TPD-TW5KO0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TW5NOK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TW5NOK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TW5NOK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TW6SRZ Kennedy disease 8B61.4 Orphanet 481 TPD-TW6SRZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TW6SRZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TW6SRZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TW7GED Noonan syndrome LD2F.15 Orphanet 648 TPD-TW7GED Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-TWBTJ6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TWBTJ6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TWBTJ6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TWCTX0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TWCTX0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TWCTX0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TWEQXE X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TWEQXE Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TWEWXL Kennedy disease 8B61.4 Orphanet 481 TPD-TWEWXL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TWEWXL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TWEWXL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TWIK4D Kennedy disease 8B61.4 Orphanet 481 TPD-TWIK4D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TWIK4D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TWIK4D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TWJ0YY Kennedy disease 8B61.4 Orphanet 481 TPD-TWJ0YY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TWJ0YY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TWJ0YY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TWKUXA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TWKUXA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TWKUXA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TWQM33 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TWQM33 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TWQM33 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TWS94J Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-TWTLGN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TWTW05 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TWTW05 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TWXME3 Kennedy disease 8B61.4 Orphanet 481 TPD-TWXME3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TWXME3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TWXME3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TWZLH2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TWZLH2 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TWZLH2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TWZVOB Kennedy disease 8B61.4 Orphanet 481 TPD-TWZVOB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TWZVOB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TWZVOB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TX1PCP Kennedy disease 8B61.4 Orphanet 481 TPD-TX1PCP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TX1PCP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TX1PCP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TX1SMP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TX1SMP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TX28IX Noonan syndrome LD2F.15 Orphanet 648 TPD-TX28IX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TX28IX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TX28IX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TX28IX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TX28IX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TX28IX Lynch syndrome 2B90.Y Orphanet 144 TPD-TX28IX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TX28IX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TX9RJA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TX9RJA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TXE2D2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TXE2D2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TXFJL8 Kennedy disease 8B61.4 Orphanet 481 TPD-TXFJL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TXFJL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TXFJL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TXJ26X Noonan syndrome LD2F.15 Orphanet 648 TPD-TXJ26X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TXJ26X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TXJ26X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TXJ26X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TXJ26X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TXJ26X Lynch syndrome 2B90.Y Orphanet 144 TPD-TXJ26X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TXJ26X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TXJUMH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TXJUMH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TXJUMH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TXLQQZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-TXN89L Kennedy disease 8B61.4 Orphanet 481 TPD-TXN89L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TXN89L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TXN89L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TXSHDV Kennedy disease 8B61.4 Orphanet 481 TPD-TXSHDV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TXSHDV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TXSHDV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TXVF0K Kennedy disease 8B61.4 Orphanet 481 TPD-TXVF0K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TXVF0K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TXVF0K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TY0V5L Familial melanoma QC61.Y Orphanet 618 TPD-TY0V5L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TY4YZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-TY4YZ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TY4YZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TY4YZ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TY4YZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TY4YZ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TY4YZ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-TY4YZ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TY4YZ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TY75R7 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-TY75R7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-TY8KXT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TY8KXT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TY9MQR Noonan syndrome LD2F.15 Orphanet 648 TPD-TY9MQR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TY9MQR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TY9MQR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TY9MQR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TY9MQR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TY9MQR Lynch syndrome 2B90.Y Orphanet 144 TPD-TY9MQR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TY9MQR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TYBSAG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TYBSAG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TYD5E9 Kennedy disease 8B61.4 Orphanet 481 TPD-TYD5E9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TYD5E9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TYD5E9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TYGT1Z Kennedy disease 8B61.4 Orphanet 481 TPD-TYGT1Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TYGT1Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TYGT1Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TYOGSK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TYQJFR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TYQJFR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TYQJFR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TYRB12 Kennedy disease 8B61.4 Orphanet 481 TPD-TYRB12 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TYRB12 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TYRB12 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TYZP2O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-TYZP2O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-TYZQFN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TYZQFN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TYZUBI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TZ3ECS Kennedy disease 8B61.4 Orphanet 481 TPD-TZ3ECS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TZ3ECS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TZ3ECS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TZ3HRI Kennedy disease 8B61.4 Orphanet 481 TPD-TZ3HRI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TZ3HRI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TZ3HRI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TZ49J3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TZ49J3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TZ4HSQ Kennedy disease 8B61.4 Orphanet 481 TPD-TZ4HSQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TZ4HSQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TZ4HSQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TZ9ECH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-TZARCQ Familial melanoma QC61.Y Orphanet 618 TPD-TZARCQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TZCE0Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-TZCE0Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-TZCE0Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-TZDFZU Noonan syndrome LD2F.15 Orphanet 648 TPD-TZDFZU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TZDFZU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TZDFZU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TZDFZU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TZDFZU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TZDFZU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TZDFZU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TZDFZU Craniopharyngioma 2F9A Orphanet 54595 TPD-TZDFZU Cushing disease 5A70.0 Orphanet 96253 TPD-TZDN1Z Familial melanoma QC61.Y Orphanet 618 TPD-TZDN1Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TZFP85 Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-TZFP85 X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-TZFYH1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-TZFYH1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-TZMUIJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-TZMUIJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-TZMUIJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-TZNIL8 Kennedy disease 8B61.4 Orphanet 481 TPD-TZNIL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TZNIL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TZNIL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TZOZ67 Noonan syndrome LD2F.15 Orphanet 648 TPD-TZOZ67 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TZOZ67 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TZOZ67 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TZOZ67 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TZOZ67 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TZOZ67 Lynch syndrome 2B90.Y Orphanet 144 TPD-TZOZ67 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TZOZ67 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TZSNVM Kennedy disease 8B61.4 Orphanet 481 TPD-TZSNVM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-TZSNVM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-TZSNVM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-TZSWWW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TZSWWW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TZSWWW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TZSWWW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-TZW7FL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-TZW7FL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-TZW7FL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TZWGKF Noonan syndrome LD2F.15 Orphanet 648 TPD-TZWGKF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-TZWGKF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-TZWGKF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TZWGKF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TZWGKF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-TZWGKF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-TZWGKF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-TZWGKF Craniopharyngioma 2F9A Orphanet 54595 TPD-TZWGKF Cushing disease 5A70.0 Orphanet 96253 TPD-TZWGKF Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-TZYW8S Noonan syndrome LD2F.15 Orphanet 648 TPD-TZYW8S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-TZYW8S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-TZYW8S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-TZYW8S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-TZYW8S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-TZYW8S Lynch syndrome 2B90.Y Orphanet 144 TPD-TZYW8S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-TZYW8S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-TZZ65H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U00FNA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U00FNA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U023BW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U023BW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U02QNJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U03ED7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U03ED7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U06AUI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U06AUI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U06VKF Noonan syndrome LD2F.15 Orphanet 648 TPD-U06VKF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U06VKF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U06VKF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U06VKF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U06VKF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U06VKF Lynch syndrome 2B90.Y Orphanet 144 TPD-U06VKF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U06VKF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U09UAC CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U0KKZF Noonan syndrome LD2F.15 Orphanet 648 TPD-U0KKZF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U0KKZF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U0KKZF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U0KKZF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U0KKZF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U0KKZF Lynch syndrome 2B90.Y Orphanet 144 TPD-U0KKZF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U0KKZF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U0NHOI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U0T9TG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U0T9TG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U0T9TG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U0WDPH Kennedy disease 8B61.4 Orphanet 481 TPD-U0WDPH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U0WDPH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U0WDPH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U0WU4I Noonan syndrome LD2F.15 Orphanet 648 TPD-U0WU4I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U0WU4I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U0WU4I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U0WU4I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U0WU4I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U0WU4I Lynch syndrome 2B90.Y Orphanet 144 TPD-U0WU4I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U0WU4I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U0ZTXA Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-U0ZTXA Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-U0ZTXA Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-U0ZTXA Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-U0ZTXA Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-U0ZTXA Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-U0ZTXA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U0ZTXA Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-U0ZTXA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-U123IQ Familial melanoma QC61.Y Orphanet 618 TPD-U123IQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U12O8K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U12O8K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U12O8K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U14J3F Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-U19Q65 Familial melanoma QC61.Y Orphanet 618 TPD-U19Q65 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U1BOPU Kennedy disease 8B61.4 Orphanet 481 TPD-U1BOPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1BOPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1BOPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1E4C5 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U1EB3T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U1EB3T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U1EB3T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U1EB3T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U1F255 Kennedy disease 8B61.4 Orphanet 481 TPD-U1F255 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1F255 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1F255 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1F93R Noonan syndrome LD2F.15 Orphanet 648 TPD-U1F93R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U1F93R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U1F93R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U1F93R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U1F93R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U1F93R Lynch syndrome 2B90.Y Orphanet 144 TPD-U1F93R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U1F93R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U1GRC1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U1GRC1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U1GRC1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U1GRC1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U1IT2Q Kennedy disease 8B61.4 Orphanet 481 TPD-U1IT2Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1IT2Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1IT2Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1JXBV Kennedy disease 8B61.4 Orphanet 481 TPD-U1JXBV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1JXBV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1JXBV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1LUIV Kennedy disease 8B61.4 Orphanet 481 TPD-U1LUIV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1LUIV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1LUIV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1M56I Kennedy disease 8B61.4 Orphanet 481 TPD-U1M56I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U1M56I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U1M56I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U1OVY2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U1OVY2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U1OVY2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U1OVY2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U1YEV4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U1YEV4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U1YEV4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U1YEV4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U20RTY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U20RTY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-U20RTY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U210OU Noonan syndrome LD2F.15 Orphanet 648 TPD-U210OU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U210OU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U210OU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U210OU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U210OU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U210OU Lynch syndrome 2B90.Y Orphanet 144 TPD-U210OU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U210OU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U28I4A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U28I4A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U28I4A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U2EJJC Familial melanoma QC61.Y Orphanet 618 TPD-U2EJJC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U2FDYP Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-U2FN9Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U2FN9Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U2FN9Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U2I4PX Noonan syndrome LD2F.15 Orphanet 648 TPD-U2I4PX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U2I4PX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U2I4PX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U2I4PX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U2I4PX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U2I4PX Lynch syndrome 2B90.Y Orphanet 144 TPD-U2I4PX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U2I4PX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U2LML7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U2MWRF Noonan syndrome LD2F.15 Orphanet 648 TPD-U2MWRF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U2MWRF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U2MWRF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U2MWRF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U2MWRF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U2MWRF Lynch syndrome 2B90.Y Orphanet 144 TPD-U2MWRF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U2MWRF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U2XQRY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U2XQRY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U2Z09R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U2ZBIO Noonan syndrome LD2F.15 Orphanet 648 TPD-U2ZBIO Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-U2ZI4M Kennedy disease 8B61.4 Orphanet 481 TPD-U2ZI4M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U2ZI4M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U2ZI4M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U30EXG Noonan syndrome LD2F.15 Orphanet 648 TPD-U30EXG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U30EXG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U30EXG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U30EXG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U30EXG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U30EXG Lynch syndrome 2B90.Y Orphanet 144 TPD-U30EXG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U30EXG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U30U0F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U30U0F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U30U0F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U30U0F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U31E9Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U36W5O Noonan syndrome LD2F.15 Orphanet 648 TPD-U36W5O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U36W5O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U36W5O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U36W5O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U36W5O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U36W5O Lynch syndrome 2B90.Y Orphanet 144 TPD-U36W5O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U36W5O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U3CBYT Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-U3CBYT Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-U3CBYT Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-U3CBYT Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-U3CBYT Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-U3CBYT Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-U3CBYT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U3CBYT Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-U3CBYT Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-U3L0RE Kennedy disease 8B61.4 Orphanet 481 TPD-U3L0RE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U3L0RE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U3L0RE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U3N2KA Noonan syndrome LD2F.15 Orphanet 648 TPD-U3N2KA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U3N2KA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U3N2KA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U3N2KA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U3N2KA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U3N2KA Lynch syndrome 2B90.Y Orphanet 144 TPD-U3N2KA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U3N2KA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U3OHF6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U3SR81 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-U3TRWX Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U3TRWX Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U3W2GU Kennedy disease 8B61.4 Orphanet 481 TPD-U3W2GU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U3W2GU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U3W2GU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U3WHPE Noonan syndrome LD2F.15 Orphanet 648 TPD-U3WHPE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-U3WHPE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-U3WHPE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U3WHPE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U3WHPE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-U3WHPE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-U3WHPE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-U3WHPE Craniopharyngioma 2F9A Orphanet 54595 TPD-U3WHPE Cushing disease 5A70.0 Orphanet 96253 TPD-U3WSW8 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-U40ZDY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-U43KVO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U43KVO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U43KVO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U43SG4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U43SG4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U43SG4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U466YH Kennedy disease 8B61.4 Orphanet 481 TPD-U466YH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U466YH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U466YH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U46WTX Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-U46WTX Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-U46WTX Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-U46WTX Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-U46WTX Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-U46WTX Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-U46WTX Semantic dementia 6D83 Orphanet 100069 TPD-U46WTX Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-U48Y6X Kennedy disease 8B61.4 Orphanet 481 TPD-U48Y6X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U48Y6X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U48Y6X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U4C9C5 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-U4C9C5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U4C9C5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U4C9C5 Choroid plexus carcinoma 2A00.22/XH3M77 Orphanet 251899 TPD-U4C9C5 Papilloma of choroid plexus 2A00.22 Orphanet 2807 TPD-U4C9C5 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-U4C9C5 Osteosarcoma 2B51 Orphanet 668 TPD-U4C9C5 Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-U4C9C5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U4C9C5 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-U4C9C5 Small cell lung cancer 2C25.1 Orphanet 70573 TPD-U4C9C5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U4C9C5 Cushing disease 5A70.0 Orphanet 96253 TPD-U4C9C5 Alveolar rhabdomyosarcoma 2B55.1/XH7099 Orphanet 99756 TPD-U4C9C5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U4FGJE Noonan syndrome LD2F.15 Orphanet 648 TPD-U4FGJE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U4FGJE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U4FGJE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U4FGJE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U4FGJE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U4FGJE Lynch syndrome 2B90.Y Orphanet 144 TPD-U4FGJE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U4FGJE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U4IVPQ Kennedy disease 8B61.4 Orphanet 481 TPD-U4IVPQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U4IVPQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U4IVPQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U4JWQH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U4JWQH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U4K3SV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U4K3SV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U4K3SV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U4RUTX Familial melanoma QC61.Y Orphanet 618 TPD-U4RUTX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U4UFRT Familial melanoma QC61.Y Orphanet 618 TPD-U4UFRT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U4VCTM Noonan syndrome LD2F.15 Orphanet 648 TPD-U4VCTM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-U4VCTM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-U4VCTM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U4VCTM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U4VCTM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-U4VCTM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-U4VCTM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-U4VCTM Craniopharyngioma 2F9A Orphanet 54595 TPD-U4VCTM Cushing disease 5A70.0 Orphanet 96253 TPD-U4X8TX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-U50R1Y Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-U50R1Y Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-U50R1Y Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-U5654A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U5654A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U56I56 Kennedy disease 8B61.4 Orphanet 481 TPD-U56I56 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U56I56 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U56I56 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U57YFP Noonan syndrome LD2F.15 Orphanet 648 TPD-U57YFP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U57YFP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U57YFP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U57YFP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U57YFP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U57YFP Lynch syndrome 2B90.Y Orphanet 144 TPD-U57YFP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U57YFP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U5H3OZ Kennedy disease 8B61.4 Orphanet 481 TPD-U5H3OZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U5H3OZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U5H3OZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U5HWOF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-U5J7I8 Kennedy disease 8B61.4 Orphanet 481 TPD-U5J7I8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U5J7I8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U5J7I8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U5N0HH Kennedy disease 8B61.4 Orphanet 481 TPD-U5N0HH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U5N0HH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U5N0HH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U5OTJE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-U5OTJE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-U5OTJE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-U5OTJE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-U5OTJE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-U5OTJE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-U5OTJE Semantic dementia 6D83 Orphanet 100069 TPD-U5OTJE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-U5PEO8 Weaver syndrome LD2C Orphanet 3447 TPD-U5PL2H Kennedy disease 8B61.4 Orphanet 481 TPD-U5PL2H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U5PL2H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U5PL2H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U5PV99 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U5PV99 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-U5PV99 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U5Q0GM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U5R1CB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U5R8ZU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U5R8ZU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U5R8ZU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U5RVH9 Noonan syndrome LD2F.15 Orphanet 648 TPD-U5RVH9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U5RVH9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U5RVH9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U5RVH9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U5RVH9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U5RVH9 Lynch syndrome 2B90.Y Orphanet 144 TPD-U5RVH9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U5RVH9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U5VGPR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U5VGPT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U5VGPT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U5VGPT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U5VGPT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U5ZKD7 Noonan syndrome LD2F.15 Orphanet 648 TPD-U5ZKD7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-U5ZKD7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-U5ZKD7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U5ZKD7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U5ZKD7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-U5ZKD7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-U5ZKD7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-U5ZKD7 Craniopharyngioma 2F9A Orphanet 54595 TPD-U5ZKD7 Cushing disease 5A70.0 Orphanet 96253 TPD-U606A8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U606A8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U60TDF X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-U61E2O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U61E2O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U61E2O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U61E2O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U65B4Y Noonan syndrome LD2F.15 Orphanet 648 TPD-U65B4Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U65B4Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U65B4Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U65B4Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U65B4Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U65B4Y Lynch syndrome 2B90.Y Orphanet 144 TPD-U65B4Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U65B4Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U6813J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U687PY Noonan syndrome LD2F.15 Orphanet 648 TPD-U687PY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U687PY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U687PY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U687PY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U687PY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U687PY Lynch syndrome 2B90.Y Orphanet 144 TPD-U687PY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U687PY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U6885I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U6885I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U6885I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U6BPLH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U6CN1K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U6CN1K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U6CN1K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U6CN1K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U6E20F Noonan syndrome LD2F.15 Orphanet 648 TPD-U6E20F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U6E20F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U6E20F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U6E20F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U6E20F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U6E20F Lynch syndrome 2B90.Y Orphanet 144 TPD-U6E20F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U6E20F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U6E4EH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U6MAO0 Kennedy disease 8B61.4 Orphanet 481 TPD-U6MAO0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U6MAO0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U6MAO0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U6QK56 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U6QK56 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U6RC83 Familial melanoma QC61.Y Orphanet 618 TPD-U6RC83 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U6SRU2 Familial melanoma QC61.Y Orphanet 618 TPD-U6SRU2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U6UFWE Kennedy disease 8B61.4 Orphanet 481 TPD-U6UFWE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U6UFWE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U6UFWE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U6UJY3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U6UJY3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U6UJY3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U6X6TJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U6Z1UN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U6Z1UN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U6Z1UN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U740UD Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-U740UD Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-U7BWWQ Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-U7BWWQ CINCA syndrome 4A60.1 Orphanet 1451 TPD-U7BWWQ Familial cold urticaria 4A60.1 Orphanet 47045 TPD-U7CJK6 Kennedy disease 8B61.4 Orphanet 481 TPD-U7CJK6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U7CJK6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U7CJK6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U7DET7 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-U7KRML Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U7KRML Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U7MCG5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U7MCG5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U7N8WL NFKB1-related immune dysregulation 4A01.2Y Orphanet 696874 TPD-U7RLWU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U7RLWU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U7RLWU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U7SHSN Noonan syndrome LD2F.15 Orphanet 648 TPD-U7SHSN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U7SHSN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U7SHSN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U7SHSN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U7SHSN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U7SHSN Lynch syndrome 2B90.Y Orphanet 144 TPD-U7SHSN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U7SHSN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U7UOGY Noonan syndrome LD2F.15 Orphanet 648 TPD-U7UOGY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U7UOGY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U7UOGY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U7UOGY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U7UOGY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U7UOGY Lynch syndrome 2B90.Y Orphanet 144 TPD-U7UOGY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U7UOGY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U7Y9L2 Kennedy disease 8B61.4 Orphanet 481 TPD-U7Y9L2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U7Y9L2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U7Y9L2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U7Z593 Kennedy disease 8B61.4 Orphanet 481 TPD-U7Z593 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U7Z593 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U7Z593 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U7ZS6X Kennedy disease 8B61.4 Orphanet 481 TPD-U7ZS6X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U7ZS6X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U7ZS6X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U851UL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U851UL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U85IZA Familial melanoma QC61.Y Orphanet 618 TPD-U85IZA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U85RFO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U85RFO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U85Y94 Noonan syndrome LD2F.15 Orphanet 648 TPD-U85Y94 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U85Y94 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U85Y94 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U85Y94 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U85Y94 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U85Y94 Lynch syndrome 2B90.Y Orphanet 144 TPD-U85Y94 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U85Y94 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U86JZK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-U86QJD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U86QJD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U86QJD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U8B7E1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U8B7E1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U8B7E1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-U8E4CR Kennedy disease 8B61.4 Orphanet 481 TPD-U8E4CR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U8E4CR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U8E4CR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U8FJRY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U8FJRY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U8H5PK Noonan syndrome LD2F.15 Orphanet 648 TPD-U8H5PK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U8H5PK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U8H5PK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U8H5PK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U8H5PK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U8H5PK Lynch syndrome 2B90.Y Orphanet 144 TPD-U8H5PK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U8H5PK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U8KAIJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U8KAIJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-U8KAIJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U8LXNW Noonan syndrome LD2F.15 Orphanet 648 TPD-U8LXNW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-U8LXNW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-U8LXNW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U8LXNW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U8LXNW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-U8LXNW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-U8LXNW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-U8LXNW Craniopharyngioma 2F9A Orphanet 54595 TPD-U8LXNW Cushing disease 5A70.0 Orphanet 96253 TPD-U8MNMZ Kennedy disease 8B61.4 Orphanet 481 TPD-U8MNMZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U8MNMZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U8MNMZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U8O5MB Kennedy disease 8B61.4 Orphanet 481 TPD-U8O5MB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U8O5MB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U8O5MB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U8Q1CA Noonan syndrome LD2F.15 Orphanet 648 TPD-U8Q1CA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U8Q1CA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U8Q1CA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U8Q1CA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U8Q1CA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U8Q1CA Lynch syndrome 2B90.Y Orphanet 144 TPD-U8Q1CA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U8Q1CA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U8UQNT Kennedy disease 8B61.4 Orphanet 481 TPD-U8UQNT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U8UQNT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U8UQNT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U8VIXD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U8VIXD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U8XWYG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U8XWYG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U8XWYG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U8XWYG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U8Y26T Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-U8Y26T Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-U8Y26T Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-U8Y26T Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-U8Y26T Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-U8Y26T Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-U8Y26T Semantic dementia 6D83 Orphanet 100069 TPD-U8Y26T Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-U8Y89C Noonan syndrome LD2F.15 Orphanet 648 TPD-U8Y89C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-U8Y89C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-U8Y89C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U8Y89C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U8Y89C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-U8Y89C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-U8Y89C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-U8Y89C Craniopharyngioma 2F9A Orphanet 54595 TPD-U8Y89C Cushing disease 5A70.0 Orphanet 96253 TPD-U91T6E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U91T6E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U94I24 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-U99LY5 Familial melanoma QC61.Y Orphanet 618 TPD-U99LY5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U99ZS4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-U9EJ0F Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-U9FP9N Kennedy disease 8B61.4 Orphanet 481 TPD-U9FP9N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U9FP9N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U9FP9N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U9GY7E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-U9H2V3 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-U9H2V3 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-U9H2V3 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-U9H2V3 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-U9H2V3 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-U9H2V3 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-U9H2V3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U9H2V3 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-U9H2V3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-U9KA8J Kennedy disease 8B61.4 Orphanet 481 TPD-U9KA8J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-U9KA8J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-U9KA8J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-U9KOYR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-U9LA73 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-U9LA73 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-U9LA73 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-U9MZ52 Noonan syndrome LD2F.15 Orphanet 648 TPD-U9MZ52 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U9MZ52 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U9MZ52 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U9MZ52 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U9MZ52 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U9MZ52 Lynch syndrome 2B90.Y Orphanet 144 TPD-U9MZ52 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U9MZ52 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U9QOY4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-U9QOY4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-U9QOY4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U9QOY4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-U9TE5R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-U9TE5R Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-U9YKZI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-U9YKZI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-U9YVE4 Noonan syndrome LD2F.15 Orphanet 648 TPD-U9YVE4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-U9YVE4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-U9YVE4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-U9YVE4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-U9YVE4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-U9YVE4 Lynch syndrome 2B90.Y Orphanet 144 TPD-U9YVE4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-U9YVE4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-U9ZA7C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-U9ZA7C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-U9ZA7C Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UA318H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UA32S6 Kennedy disease 8B61.4 Orphanet 481 TPD-UA32S6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UA32S6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UA32S6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UA49ZO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UA4LNK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UA4LNK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UA4LNK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UA4LNK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UACZBC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UACZBC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UAFCTK Hirschsprung disease LB16.1 Orphanet 388 TPD-UAFCTK Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-UAFCTK Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-UANFZ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-UANFZ3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UANFZ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UANFZ3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UANFZ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UANFZ3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UANFZ3 Lynch syndrome 2B90.Y Orphanet 144 TPD-UANFZ3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UANFZ3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UAOMCY Noonan syndrome LD2F.15 Orphanet 648 TPD-UAOMCY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UAOMCY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UAOMCY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UAOMCY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UAOMCY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UAOMCY Lynch syndrome 2B90.Y Orphanet 144 TPD-UAOMCY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UAOMCY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UARODO Kennedy disease 8B61.4 Orphanet 481 TPD-UARODO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UARODO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UARODO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UASRAB Noonan syndrome LD2F.15 Orphanet 648 TPD-UASRAB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UASRAB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UASRAB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UASRAB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UASRAB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UASRAB Lynch syndrome 2B90.Y Orphanet 144 TPD-UASRAB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UASRAB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UAUUX6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UAZY3E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UB0NXI Noonan syndrome LD2F.15 Orphanet 648 TPD-UB0NXI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UB0NXI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UB0NXI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UB0NXI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UB0NXI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UB0NXI Lynch syndrome 2B90.Y Orphanet 144 TPD-UB0NXI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UB0NXI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UBC1Y9 Kennedy disease 8B61.4 Orphanet 481 TPD-UBC1Y9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UBC1Y9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UBC1Y9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UBGK2E Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-UBGK2E Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-UBGK2E Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-UBGK2E Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-UBGK2E Primary myelofibrosis 2A20.2 Orphanet 824 TPD-UBGK2E Polycythemia vera 2A20.4 Orphanet 729 TPD-UBGK2E Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-UBGLUH Noonan syndrome LD2F.15 Orphanet 648 TPD-UBGLUH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-UBOQOZ Kennedy disease 8B61.4 Orphanet 481 TPD-UBOQOZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UBOQOZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UBOQOZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UBQREF Hirschsprung disease LB16.1 Orphanet 388 TPD-UBQREF Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-UBQREF Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-UBU0GC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UBUGMI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UBUMCY Familial melanoma QC61.Y Orphanet 618 TPD-UBUMCY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UC6HTY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UC6HTY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UC6HTY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UCEOH7 Noonan syndrome LD2F.15 Orphanet 648 TPD-UCEOH7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UCEOH7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UCEOH7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UCEOH7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UCEOH7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UCEOH7 Lynch syndrome 2B90.Y Orphanet 144 TPD-UCEOH7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UCEOH7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UCEQ3U Kennedy disease 8B61.4 Orphanet 481 TPD-UCEQ3U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UCEQ3U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UCEQ3U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UCN9QS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UCNC54 Noonan syndrome LD2F.15 Orphanet 648 TPD-UCNC54 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UCNC54 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UCNC54 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UCNC54 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UCNC54 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UCNC54 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UCNC54 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UCNC54 Craniopharyngioma 2F9A Orphanet 54595 TPD-UCNC54 Cushing disease 5A70.0 Orphanet 96253 TPD-UCOFRI Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-UCRQBW Familial melanoma QC61.Y Orphanet 618 TPD-UCRQBW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UCSIOF Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-UCSIOF Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-UCSIOF Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-UCVYED Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UCVYED Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UCVYED B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UCVYED B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UCZD2X Noonan syndrome LD2F.15 Orphanet 648 TPD-UCZD2X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UCZD2X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UCZD2X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UCZD2X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UCZD2X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UCZD2X Lynch syndrome 2B90.Y Orphanet 144 TPD-UCZD2X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UCZD2X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UD1OYQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UD1TNT Noonan syndrome LD2F.15 Orphanet 648 TPD-UD1TNT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UD1TNT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UD1TNT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UD1TNT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UD1TNT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UD1TNT Lynch syndrome 2B90.Y Orphanet 144 TPD-UD1TNT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UD1TNT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UD1WUV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UD2L70 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UD2L70 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UD3YLC Kennedy disease 8B61.4 Orphanet 481 TPD-UD3YLC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UD3YLC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UD3YLC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UD6SQJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UDF0C3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UDHPNB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-UDHPNB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-UDHPNB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-UDHPNB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-UDHPNB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-UDHPNB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-UDHPNB Semantic dementia 6D83 Orphanet 100069 TPD-UDHPNB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-UDJ5EW Kennedy disease 8B61.4 Orphanet 481 TPD-UDJ5EW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UDJ5EW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UDJ5EW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UDMWB9 Familial melanoma QC61.Y Orphanet 618 TPD-UDMWB9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UDNOFS Noonan syndrome LD2F.15 Orphanet 648 TPD-UDNOFS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UDNOFS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UDNOFS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UDNOFS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UDNOFS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UDNOFS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UDNOFS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UDNOFS Craniopharyngioma 2F9A Orphanet 54595 TPD-UDNOFS Cushing disease 5A70.0 Orphanet 96253 TPD-UDQPHO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UDQPHO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UDQPHO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UDSSFY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UDSSFY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UDSSFY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UDWRV8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UDWRV8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UDWRV8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UDWRV8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UDZP7H Kennedy disease 8B61.4 Orphanet 481 TPD-UDZP7H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UDZP7H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UDZP7H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UE0O2G Kennedy disease 8B61.4 Orphanet 481 TPD-UE0O2G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UE0O2G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UE0O2G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UE2V0S Kennedy disease 8B61.4 Orphanet 481 TPD-UE2V0S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UE2V0S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UE2V0S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UE483M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UE483M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UE483M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UE483M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UE5IFX Kennedy disease 8B61.4 Orphanet 481 TPD-UE5IFX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UE5IFX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UE5IFX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UE753K Noonan syndrome LD2F.15 Orphanet 648 TPD-UE753K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UE753K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UE753K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UE753K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UE753K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UE753K Lynch syndrome 2B90.Y Orphanet 144 TPD-UE753K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UE753K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UEAOO8 Kennedy disease 8B61.4 Orphanet 481 TPD-UEAOO8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UEAOO8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UEAOO8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UEBV5L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UEBV5L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UEBV5L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UEBV5L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UEBVUC Kennedy disease 8B61.4 Orphanet 481 TPD-UEBVUC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UEBVUC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UEBVUC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UECBLN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UECBLN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UEDLTM Kennedy disease 8B61.4 Orphanet 481 TPD-UEDLTM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UEDLTM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UEDLTM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UEDRDW Burkitt lymphoma XH4KA9 Orphanet 543 TPD-UEDRDW Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UEDRDW Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-UEFPK4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UEGE2H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UEGE2H Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UEGHZ3 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-UEJVVA Kennedy disease 8B61.4 Orphanet 481 TPD-UEJVVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UEJVVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UEJVVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UELX8R Noonan syndrome LD2F.15 Orphanet 648 TPD-UELX8R Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UELX8R Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UELX8R Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UELX8R Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UELX8R Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UELX8R Lynch syndrome 2B90.Y Orphanet 144 TPD-UELX8R Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UELX8R Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UEPND2 Noonan syndrome LD2F.15 Orphanet 648 TPD-UEPND2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UEPND2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UEPND2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UEPND2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UEPND2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UEPND2 Lynch syndrome 2B90.Y Orphanet 144 TPD-UEPND2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UEPND2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UETUKM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UEVLC3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UEVLC3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UEVLC3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UF4E1Q Kennedy disease 8B61.4 Orphanet 481 TPD-UF4E1Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UF4E1Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UF4E1Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UF6D7L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UF6D7L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UF6D7L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UF6N4F Noonan syndrome LD2F.15 Orphanet 648 TPD-UF6N4F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UF6N4F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UF6N4F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UF6N4F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UF6N4F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UF6N4F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UF6N4F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UF6N4F Craniopharyngioma 2F9A Orphanet 54595 TPD-UF6N4F Cushing disease 5A70.0 Orphanet 96253 TPD-UFEJSZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UFEJSZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UFEVAB Noonan syndrome LD2F.15 Orphanet 648 TPD-UFEVAB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UFEVAB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UFEVAB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UFEVAB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UFEVAB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UFEVAB Lynch syndrome 2B90.Y Orphanet 144 TPD-UFEVAB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UFEVAB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UFF0GP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UFF0GP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UFF0GP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UFF0GP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UFGVCZ Noonan syndrome LD2F.15 Orphanet 648 TPD-UFGVCZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-UFK9OT Noonan syndrome LD2F.15 Orphanet 648 TPD-UFK9OT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UFK9OT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UFK9OT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UFK9OT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UFK9OT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UFK9OT Lynch syndrome 2B90.Y Orphanet 144 TPD-UFK9OT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UFK9OT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UFLWQK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UFQ5FT Noonan syndrome LD2F.15 Orphanet 648 TPD-UFQ5FT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UFQ5FT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UFQ5FT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UFQ5FT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UFQ5FT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UFQ5FT Lynch syndrome 2B90.Y Orphanet 144 TPD-UFQ5FT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UFQ5FT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UFQUOC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UFQUOC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UFUZ7P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UFUZ7P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UFUZ7P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UFVUK4 Familial melanoma QC61.Y Orphanet 618 TPD-UFVUK4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UG4N89 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UG4N89 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UG4N89 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UGBYID Kennedy disease 8B61.4 Orphanet 481 TPD-UGBYID Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UGBYID Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UGBYID Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UGF1L2 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-UGF1L2 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-UGF1L2 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-UGF1L2 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-UGF1L2 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-UGF1L2 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-UGF1L2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UGF1L2 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-UGF1L2 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UGHDF1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UGPB3Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UGPB3Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UGQYOC Kennedy disease 8B61.4 Orphanet 481 TPD-UGQYOC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UGQYOC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UGQYOC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UGTLCL Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-UGTRIS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UGTRIS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UGUAO1 Noonan syndrome LD2F.15 Orphanet 648 TPD-UGUAO1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UGUAO1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UGUAO1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UGUAO1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UGUAO1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UGUAO1 Lynch syndrome 2B90.Y Orphanet 144 TPD-UGUAO1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UGUAO1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UGWULZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UGWULZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UGWULZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UGWULZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UGXML3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UGYSL7 Noonan syndrome LD2F.15 Orphanet 648 TPD-UGYSL7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UGYSL7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UGYSL7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UGYSL7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UGYSL7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UGYSL7 Lynch syndrome 2B90.Y Orphanet 144 TPD-UGYSL7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UGYSL7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UH0AXH Kennedy disease 8B61.4 Orphanet 481 TPD-UH0AXH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UH0AXH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UH0AXH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UH22ZN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UH22ZN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UH234B Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UH234B Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UH234B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UH234B B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UH5PFP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UH5PFP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UH8JCO Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-UHAWWZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UHAWWZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UHCEBD Kennedy disease 8B61.4 Orphanet 481 TPD-UHCEBD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UHCEBD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UHCEBD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UHDC3M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UHDC3M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UHDC3M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UHFMX3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UHFMX3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UHFMX3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UHFV1K Noonan syndrome LD2F.15 Orphanet 648 TPD-UHFV1K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UHFV1K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UHFV1K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UHFV1K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UHFV1K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UHFV1K Lynch syndrome 2B90.Y Orphanet 144 TPD-UHFV1K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UHFV1K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UHGEV8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UHGR9J Kennedy disease 8B61.4 Orphanet 481 TPD-UHGR9J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UHGR9J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UHGR9J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UHH58Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UHM56P Noonan syndrome LD2F.15 Orphanet 648 TPD-UHM56P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UHM56P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UHM56P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UHM56P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UHM56P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UHM56P Lynch syndrome 2B90.Y Orphanet 144 TPD-UHM56P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UHM56P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UHMGTQ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-UHMGTQ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-UHMGTQ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-UHMGTQ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-UHMGTQ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-UHMGTQ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-UHMGTQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UHMGTQ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-UHMGTQ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UHOYY0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UHP7PD Noonan syndrome LD2F.15 Orphanet 648 TPD-UHP7PD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UHP7PD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UHP7PD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UHP7PD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UHP7PD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UHP7PD Lynch syndrome 2B90.Y Orphanet 144 TPD-UHP7PD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UHP7PD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UHT665 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UHTKXW Familial melanoma QC61.Y Orphanet 618 TPD-UHTKXW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UHV8D2 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-UHV8D2 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-UHZY0K Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UHZY0K Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UI2CUM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UI2CUM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UI2CUM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UIAUDH Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-UIAUDH Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-UIAUDH Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-UIAUDH Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-UIAUDH Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-UIAUDH Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-UIAUDH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UIAUDH Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-UIAUDH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UIB80M Kennedy disease 8B61.4 Orphanet 481 TPD-UIB80M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UIB80M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UIB80M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UIDHJI CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UIFJ8L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UIFJ8L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UIFJ8L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UIFJ8L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UIHBWG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UIHBWG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UII9IC Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-UIJTIC Noonan syndrome LD2F.15 Orphanet 648 TPD-UIJTIC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UIJTIC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UIJTIC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UIJTIC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UIJTIC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UIJTIC Lynch syndrome 2B90.Y Orphanet 144 TPD-UIJTIC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UIJTIC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UIKWNL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UIKWNL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UIKWNL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UIKWNL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UIMYSB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UIMYSB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UIO5JB X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UIO5JB Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UIP66Q Kennedy disease 8B61.4 Orphanet 481 TPD-UIP66Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UIP66Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UIP66Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UIQNGG Kennedy disease 8B61.4 Orphanet 481 TPD-UIQNGG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UIQNGG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UIQNGG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UIVNHA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UIVNHA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UIVNHA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UIVQOE Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-UJ0R7A Noonan syndrome LD2F.15 Orphanet 648 TPD-UJ0R7A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UJ0R7A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UJ0R7A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UJ0R7A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UJ0R7A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UJ0R7A Lynch syndrome 2B90.Y Orphanet 144 TPD-UJ0R7A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UJ0R7A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UJ1QBR Noonan syndrome LD2F.15 Orphanet 648 TPD-UJ1QBR Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-UJ26TZ Noonan syndrome LD2F.15 Orphanet 648 TPD-UJ26TZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UJ26TZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UJ26TZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UJ26TZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UJ26TZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UJ26TZ Lynch syndrome 2B90.Y Orphanet 144 TPD-UJ26TZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UJ26TZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UJ4TNP Noonan syndrome LD2F.15 Orphanet 648 TPD-UJ4TNP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UJ4TNP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UJ4TNP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UJ4TNP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UJ4TNP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UJ4TNP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UJ4TNP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UJ4TNP Craniopharyngioma 2F9A Orphanet 54595 TPD-UJ4TNP Cushing disease 5A70.0 Orphanet 96253 TPD-UJ6JUA Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-UJ6JUA Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-UJ6JUA Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-UJ9L4F Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UJ9L4F Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UJ9L4F B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UJ9L4F B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UJDHMA Kennedy disease 8B61.4 Orphanet 481 TPD-UJDHMA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UJDHMA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UJDHMA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UJI01B Kennedy disease 8B61.4 Orphanet 481 TPD-UJI01B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UJI01B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UJI01B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UJI554 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UJKKT0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UJKKT0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UJL2DY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UJL2DY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UJNX2M Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-UJNX2M Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-UJNX2M Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-UJNX2M Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-UJNX2M Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-UJNX2M Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-UJNX2M Semantic dementia 6D83 Orphanet 100069 TPD-UJNX2M Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-UJO48Z Noonan syndrome LD2F.15 Orphanet 648 TPD-UJO48Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UJO48Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UJO48Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UJO48Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UJO48Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UJO48Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UJO48Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UJO48Z Craniopharyngioma 2F9A Orphanet 54595 TPD-UJO48Z Cushing disease 5A70.0 Orphanet 96253 TPD-UJOT2T Kennedy disease 8B61.4 Orphanet 481 TPD-UJOT2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UJOT2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UJOT2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UJPS9J X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UJPS9J Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UJQ3E3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UJQ3E3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UJQ3E3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UJQRGA Kennedy disease 8B61.4 Orphanet 481 TPD-UJQRGA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UJQRGA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UJQRGA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UJSX9W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UJSX9W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UJSX9W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UJTAUA Familial melanoma QC61.Y Orphanet 618 TPD-UJTAUA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UJW22M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UJXKNL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UJY9AM Kennedy disease 8B61.4 Orphanet 481 TPD-UJY9AM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UJY9AM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UJY9AM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UJZXIQ Noonan syndrome LD2F.15 Orphanet 648 TPD-UJZXIQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UJZXIQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UJZXIQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UJZXIQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UJZXIQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UJZXIQ Lynch syndrome 2B90.Y Orphanet 144 TPD-UJZXIQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UJZXIQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UK7UAO Noonan syndrome LD2F.15 Orphanet 648 TPD-UK7UAO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UK7UAO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UK7UAO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UK7UAO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UK7UAO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UK7UAO Lynch syndrome 2B90.Y Orphanet 144 TPD-UK7UAO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UK7UAO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UKAEU2 Kennedy disease 8B61.4 Orphanet 481 TPD-UKAEU2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UKAEU2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UKAEU2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UKB00D Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UKB00D Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UKB00D Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UKHHVG Noonan syndrome LD2F.15 Orphanet 648 TPD-UKHHVG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UKHHVG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UKHHVG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UKHHVG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UKHHVG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UKHHVG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UKHHVG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UKHHVG Craniopharyngioma 2F9A Orphanet 54595 TPD-UKHHVG Cushing disease 5A70.0 Orphanet 96253 TPD-UKKT40 Noonan syndrome LD2F.15 Orphanet 648 TPD-UKKT40 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UKKT40 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UKKT40 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UKKT40 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UKKT40 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UKKT40 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UKKT40 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UKKT40 Craniopharyngioma 2F9A Orphanet 54595 TPD-UKKT40 Cushing disease 5A70.0 Orphanet 96253 TPD-UKNHMK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UKNHMK Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UKQ3MF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-UKQNTL Noonan syndrome LD2F.15 Orphanet 648 TPD-UKQNTL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UKQNTL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UKQNTL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UKQNTL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UKQNTL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UKQNTL Lynch syndrome 2B90.Y Orphanet 144 TPD-UKQNTL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UKQNTL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UKTJUU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UL5W28 Noonan syndrome LD2F.15 Orphanet 648 TPD-UL5W28 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UL5W28 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UL5W28 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UL5W28 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UL5W28 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UL5W28 Lynch syndrome 2B90.Y Orphanet 144 TPD-UL5W28 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UL5W28 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UL7NYA Noonan syndrome LD2F.15 Orphanet 648 TPD-UL7NYA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UL7NYA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UL7NYA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UL7NYA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UL7NYA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UL7NYA Lynch syndrome 2B90.Y Orphanet 144 TPD-UL7NYA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UL7NYA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UL82OC Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ULCFJB Kennedy disease 8B61.4 Orphanet 481 TPD-ULCFJB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ULCFJB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ULCFJB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ULD3RO Kennedy disease 8B61.4 Orphanet 481 TPD-ULD3RO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ULD3RO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ULD3RO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ULGFED Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ULGFED Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ULJ6HQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ULLQ0J Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ULM7SS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ULM7SS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ULM7SS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ULNZHK Kennedy disease 8B61.4 Orphanet 481 TPD-ULNZHK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ULNZHK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ULNZHK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ULP6C8 Noonan syndrome LD2F.15 Orphanet 648 TPD-ULP6C8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ULP6C8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ULP6C8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ULP6C8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ULP6C8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ULP6C8 Lynch syndrome 2B90.Y Orphanet 144 TPD-ULP6C8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ULP6C8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ULPLW2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ULPLW2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ULQMWB Noonan syndrome LD2F.15 Orphanet 648 TPD-ULQMWB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ULQMWB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ULQMWB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ULQMWB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ULQMWB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ULQMWB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ULQMWB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ULQMWB Craniopharyngioma 2F9A Orphanet 54595 TPD-ULQMWB Cushing disease 5A70.0 Orphanet 96253 TPD-ULRWMN Kennedy disease 8B61.4 Orphanet 481 TPD-ULRWMN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ULRWMN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ULRWMN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ULSNFO X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ULSNFO Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ULUDJ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-ULUDJ9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ULUDJ9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ULUDJ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ULUDJ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ULUDJ9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ULUDJ9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ULUDJ9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ULUDJ9 Craniopharyngioma 2F9A Orphanet 54595 TPD-ULUDJ9 Cushing disease 5A70.0 Orphanet 96253 TPD-ULUGZB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ULXWNM Noonan syndrome LD2F.15 Orphanet 648 TPD-ULXWNM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ULXWNM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ULXWNM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ULXWNM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ULXWNM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ULXWNM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ULXWNM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ULXWNM Craniopharyngioma 2F9A Orphanet 54595 TPD-ULXWNM Cushing disease 5A70.0 Orphanet 96253 TPD-UM1PIQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UM2KCS Noonan syndrome LD2F.15 Orphanet 648 TPD-UM2KCS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UM2KCS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UM2KCS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UM2KCS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UM2KCS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UM2KCS Lynch syndrome 2B90.Y Orphanet 144 TPD-UM2KCS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UM2KCS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UM55QS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UM55QS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UM55QS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UM55QS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UM92S9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UM92S9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UM92S9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UM92S9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UM9D8G Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-UM9D8G Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-UM9D8G Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-UM9D8G Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-UM9D8G Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-UM9D8G Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-UM9D8G Semantic dementia 6D83 Orphanet 100069 TPD-UM9D8G Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-UMC1E3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UMCVBB Noonan syndrome LD2F.15 Orphanet 648 TPD-UMCVBB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UMCVBB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UMCVBB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UMCVBB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UMCVBB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UMCVBB Lynch syndrome 2B90.Y Orphanet 144 TPD-UMCVBB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UMCVBB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UMD8U1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UMD8U1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UMD8U1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UME1HT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UME1HT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UMHEN9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UMHEN9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UMJ2VF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UMJ2VF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UMJ2VF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UMJ2VF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UMJOBB Kennedy disease 8B61.4 Orphanet 481 TPD-UMJOBB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UMJOBB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UMJOBB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UMMCE1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UMMCE1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UMPQ21 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UMQSN2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UMQSN2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UMQSN2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UMQSN2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UMW7KB Noonan syndrome LD2F.15 Orphanet 648 TPD-UMW7KB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UMW7KB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UMW7KB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UMW7KB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UMW7KB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UMW7KB Lynch syndrome 2B90.Y Orphanet 144 TPD-UMW7KB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UMW7KB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UMWRT7 Noonan syndrome LD2F.15 Orphanet 648 TPD-UMWRT7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UMWRT7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UMWRT7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UMWRT7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UMWRT7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UMWRT7 Lynch syndrome 2B90.Y Orphanet 144 TPD-UMWRT7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UMWRT7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UMY51C Familial melanoma QC61.Y Orphanet 618 TPD-UMY51C Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UN0QEE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UN0QEE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UN2ZLH Noonan syndrome LD2F.15 Orphanet 648 TPD-UN2ZLH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UN2ZLH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UN2ZLH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UN2ZLH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UN2ZLH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UN2ZLH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UN2ZLH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UN2ZLH Craniopharyngioma 2F9A Orphanet 54595 TPD-UN2ZLH Cushing disease 5A70.0 Orphanet 96253 TPD-UN3Y75 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UN3Y75 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UN3Y75 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UN4209 Familial melanoma QC61.Y Orphanet 618 TPD-UN4209 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UN54OR Noonan syndrome LD2F.15 Orphanet 648 TPD-UN54OR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UN54OR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UN54OR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UN54OR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UN54OR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UN54OR Lynch syndrome 2B90.Y Orphanet 144 TPD-UN54OR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UN54OR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UN7HMJ Noonan syndrome LD2F.15 Orphanet 648 TPD-UN7HMJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UN7HMJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UN7HMJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UN7HMJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UN7HMJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UN7HMJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UN7HMJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UN7HMJ Craniopharyngioma 2F9A Orphanet 54595 TPD-UN7HMJ Cushing disease 5A70.0 Orphanet 96253 TPD-UN8QLX Noonan syndrome LD2F.15 Orphanet 648 TPD-UN8QLX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UN8QLX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UN8QLX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UN8QLX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UN8QLX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UN8QLX Lynch syndrome 2B90.Y Orphanet 144 TPD-UN8QLX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UN8QLX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UN8TBE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UN8TBE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UN8TBE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UNB6PX Kennedy disease 8B61.4 Orphanet 481 TPD-UNB6PX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UNB6PX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UNB6PX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UNCKK8 Noonan syndrome LD2F.15 Orphanet 648 TPD-UNCKK8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UNCKK8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UNCKK8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UNCKK8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UNCKK8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UNCKK8 Lynch syndrome 2B90.Y Orphanet 144 TPD-UNCKK8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UNCKK8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UNOPZT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UNPJ9C Achondroplasia LD24.00 Orphanet 15 TPD-UNPJ9C Hypochondroplasia LD24.01 Orphanet 429 TPD-UNPJ9C Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-UNPJ9C Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-UNPJ9C Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-UNPJ9C Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UNPJ9C Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UNPJ9C Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-UNPJ9C Muenke syndrome LD24.GY Orphanet 53271 TPD-UNPJ9C Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-UNPJ9C Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-UNPJ9C Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-UNPVHQ Noonan syndrome LD2F.15 Orphanet 648 TPD-UNPVHQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UNPVHQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UNPVHQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UNPVHQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UNPVHQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UNPVHQ Lynch syndrome 2B90.Y Orphanet 144 TPD-UNPVHQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UNPVHQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UNQ0VZ Noonan syndrome LD2F.15 Orphanet 648 TPD-UNQ0VZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UNQ0VZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UNQ0VZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UNQ0VZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UNQ0VZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UNQ0VZ Lynch syndrome 2B90.Y Orphanet 144 TPD-UNQ0VZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UNQ0VZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UNRB1I Kennedy disease 8B61.4 Orphanet 481 TPD-UNRB1I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UNRB1I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UNRB1I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UNWBT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-UNWBT2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UNWBT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UNWBT2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UNWBT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UNWBT2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UNWBT2 Lynch syndrome 2B90.Y Orphanet 144 TPD-UNWBT2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UNWBT2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UO4RVV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UO4RVV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UO4RVV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UO9R40 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UO9R40 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UOE4Z3 Kennedy disease 8B61.4 Orphanet 481 TPD-UOE4Z3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UOE4Z3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UOE4Z3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UOGDBE Noonan syndrome LD2F.15 Orphanet 648 TPD-UOGDBE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UOGDBE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UOGDBE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UOGDBE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UOGDBE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UOGDBE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UOGDBE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UOGDBE Craniopharyngioma 2F9A Orphanet 54595 TPD-UOGDBE Cushing disease 5A70.0 Orphanet 96253 TPD-UOJ4ZC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UOJ4ZC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UOJIS6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UOJIS6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UOJIS6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UOJZP6 Noonan syndrome LD2F.15 Orphanet 648 TPD-UOJZP6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UOJZP6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UOJZP6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UOJZP6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UOJZP6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UOJZP6 Lynch syndrome 2B90.Y Orphanet 144 TPD-UOJZP6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UOJZP6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UOLDU3 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-UOLDU3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UOPKBP Kennedy disease 8B61.4 Orphanet 481 TPD-UOPKBP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UOPKBP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UOPKBP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UOTT6F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-UOTT6F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-UOTT6F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-UOTT6F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-UOTT6F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-UOTT6F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-UOTT6F Semantic dementia 6D83 Orphanet 100069 TPD-UOTT6F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-UOVSBX Familial melanoma QC61.Y Orphanet 618 TPD-UOVSBX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UOW4MH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UP15HD Noonan syndrome LD2F.15 Orphanet 648 TPD-UP15HD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UP15HD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UP15HD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UP15HD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UP15HD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UP15HD Lynch syndrome 2B90.Y Orphanet 144 TPD-UP15HD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UP15HD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UP2BTM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UP2UAB Noonan syndrome LD2F.15 Orphanet 648 TPD-UP2UAB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UP2UAB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UP2UAB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UP2UAB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UP2UAB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UP2UAB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UP2UAB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UP2UAB Craniopharyngioma 2F9A Orphanet 54595 TPD-UP2UAB Cushing disease 5A70.0 Orphanet 96253 TPD-UP3EXV Kennedy disease 8B61.4 Orphanet 481 TPD-UP3EXV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UP3EXV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UP3EXV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UP3O8V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UP3O8V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UPAVR5 Noonan syndrome LD2F.15 Orphanet 648 TPD-UPAVR5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPAVR5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPAVR5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPAVR5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPAVR5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPAVR5 Lynch syndrome 2B90.Y Orphanet 144 TPD-UPAVR5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPAVR5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPB3VK Noonan syndrome LD2F.15 Orphanet 648 TPD-UPB3VK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPB3VK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPB3VK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPB3VK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPB3VK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPB3VK Lynch syndrome 2B90.Y Orphanet 144 TPD-UPB3VK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPB3VK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPBT27 Noonan syndrome LD2F.15 Orphanet 648 TPD-UPBT27 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPBT27 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPBT27 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPBT27 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPBT27 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPBT27 Lynch syndrome 2B90.Y Orphanet 144 TPD-UPBT27 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPBT27 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPF94C Kennedy disease 8B61.4 Orphanet 481 TPD-UPF94C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UPF94C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UPF94C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UPG59U Kennedy disease 8B61.4 Orphanet 481 TPD-UPG59U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UPG59U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UPG59U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UPLN2Q Noonan syndrome LD2F.15 Orphanet 648 TPD-UPLN2Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPLN2Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPLN2Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPLN2Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPLN2Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPLN2Q Lynch syndrome 2B90.Y Orphanet 144 TPD-UPLN2Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPLN2Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPLSVI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UPN229 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UPN229 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UPN4CQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UPN4CQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UPNGKW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UPSCH8 Familial melanoma QC61.Y Orphanet 618 TPD-UPSCH8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UPSP3R Kennedy disease 8B61.4 Orphanet 481 TPD-UPSP3R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UPSP3R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UPSP3R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UPWG1L Noonan syndrome LD2F.15 Orphanet 648 TPD-UPWG1L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPWG1L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPWG1L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPWG1L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPWG1L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPWG1L Lynch syndrome 2B90.Y Orphanet 144 TPD-UPWG1L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPWG1L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPWXZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-UPWXZ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UPWXZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UPWXZ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UPWXZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UPWXZ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UPWXZ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-UPWXZ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UPWXZ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UPY7C5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UPY7C5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UPZ4FZ Kennedy disease 8B61.4 Orphanet 481 TPD-UPZ4FZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UPZ4FZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UPZ4FZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQ1N53 Kennedy disease 8B61.4 Orphanet 481 TPD-UQ1N53 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UQ1N53 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UQ1N53 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQ2NFS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UQ2NFS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UQ5DDG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UQ6AYR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UQ6AYR Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UQ7FD4 Kennedy disease 8B61.4 Orphanet 481 TPD-UQ7FD4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UQ7FD4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UQ7FD4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQCWP3 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UQCWP3 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UQCWP3 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UQDPAY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UQDPAY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UQDPAY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UQEVRP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UQEVRP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UQG2WK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UQG2WK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UQMKKJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UQNOZT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UQNOZT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UQNOZT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UQPBVZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UQPBVZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UQPBVZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UQPBVZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UQPIPE Kennedy disease 8B61.4 Orphanet 481 TPD-UQPIPE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UQPIPE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UQPIPE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQRP5K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UQSCLA Kennedy disease 8B61.4 Orphanet 481 TPD-UQSCLA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UQSCLA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UQSCLA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQT49R Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UQVL71 Kennedy disease 8B61.4 Orphanet 481 TPD-UQVL71 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UQVL71 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UQVL71 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UQXY6S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UR2XTV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UR2XTV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UR2XTV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UR3X41 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UR3X41 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UR3X41 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UR3X41 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UR682Q Noonan syndrome LD2F.15 Orphanet 648 TPD-UR682Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UR682Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UR682Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UR682Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UR682Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UR682Q Lynch syndrome 2B90.Y Orphanet 144 TPD-UR682Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UR682Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UR6RAN Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-UR731I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UR731I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UR731I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UR74NE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UR74NE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UR7TN8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-URBZW0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UREVXX Noonan syndrome LD2F.15 Orphanet 648 TPD-UREVXX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UREVXX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UREVXX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UREVXX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UREVXX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UREVXX Lynch syndrome 2B90.Y Orphanet 144 TPD-UREVXX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UREVXX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-URGQ98 Kennedy disease 8B61.4 Orphanet 481 TPD-URGQ98 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-URGQ98 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-URGQ98 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-URIK96 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-URIK96 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-URIK96 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-URIK96 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-URIK96 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-URIK96 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-URIK96 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-URIK96 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-URIK96 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-URL0CU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-URL0CU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-URMMZT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-URMMZT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-URNZXF Kennedy disease 8B61.4 Orphanet 481 TPD-URNZXF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-URNZXF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-URNZXF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UROT2N Familial melanoma QC61.Y Orphanet 618 TPD-URQBWM Noonan syndrome LD2F.15 Orphanet 648 TPD-URQBWM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-URQBWM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-URQBWM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-URQBWM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-URQBWM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-URQBWM Lynch syndrome 2B90.Y Orphanet 144 TPD-URQBWM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-URQBWM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-URW6IV Kennedy disease 8B61.4 Orphanet 481 TPD-URW6IV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-URW6IV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-URW6IV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-URWP48 Kennedy disease 8B61.4 Orphanet 481 TPD-URWP48 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-URWP48 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-URWP48 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-URY47H Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-URY47H Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-URY47H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-URY47H B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-US6ZO5 Kennedy disease 8B61.4 Orphanet 481 TPD-US6ZO5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-US6ZO5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-US6ZO5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-US816W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-USAHDW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-USC1AK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-USC1AK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-USC1AK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-USC1AK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-USC7II Burkitt lymphoma XH4KA9 Orphanet 543 TPD-USC7II Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-USEJ27 Noonan syndrome LD2F.15 Orphanet 648 TPD-USEJ27 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-USEJ27 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-USEJ27 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-USEJ27 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-USEJ27 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-USEJ27 Lynch syndrome 2B90.Y Orphanet 144 TPD-USEJ27 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-USEJ27 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-USFLU5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-USFLU5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-USFLU5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-USFLU5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-USFYU3 Familial melanoma QC61.Y Orphanet 618 TPD-USFYU3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-USG009 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-USG009 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-USG009 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-USG009 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-USH3TY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-USJ3TX Noonan syndrome LD2F.15 Orphanet 648 TPD-USJ3TX Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-USJ3TX Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-USJ3TX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-USJ3TX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-USJ3TX Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-USJ3TX Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-USJ3TX Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-USJ3TX Craniopharyngioma 2F9A Orphanet 54595 TPD-USJ3TX Cushing disease 5A70.0 Orphanet 96253 TPD-USK4QZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-USMVP6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-USQXNW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-USQXNW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-USYKYV Noonan syndrome LD2F.15 Orphanet 648 TPD-USYKYV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-USYKYV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-USYKYV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-USYKYV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-USYKYV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-USYKYV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-USYKYV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-USYKYV Craniopharyngioma 2F9A Orphanet 54595 TPD-USYKYV Cushing disease 5A70.0 Orphanet 96253 TPD-USZ6ZK Kennedy disease 8B61.4 Orphanet 481 TPD-USZ6ZK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-USZ6ZK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-USZ6ZK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UT12FW Noonan syndrome LD2F.15 Orphanet 648 TPD-UT12FW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UT12FW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UT12FW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UT12FW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UT12FW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UT12FW Lynch syndrome 2B90.Y Orphanet 144 TPD-UT12FW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UT12FW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UT32TT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UT32TT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UT4LTP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UT4LTP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UT4LTP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UT4LTP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UT548M Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UT548M Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UT5E5Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UT5E5Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UT5E5Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UT5E5Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UT7X8T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UT7X8T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UT7X8T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UTEZV7 Familial melanoma QC61.Y Orphanet 618 TPD-UTEZV7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UTIJ7P Noonan syndrome LD2F.15 Orphanet 648 TPD-UTIJ7P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UTIJ7P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UTIJ7P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UTIJ7P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UTIJ7P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UTIJ7P Lynch syndrome 2B90.Y Orphanet 144 TPD-UTIJ7P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UTIJ7P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UTL4FX Noonan syndrome LD2F.15 Orphanet 648 TPD-UTL4FX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UTL4FX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UTL4FX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UTL4FX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UTL4FX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UTL4FX Lynch syndrome 2B90.Y Orphanet 144 TPD-UTL4FX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UTL4FX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UTO5WB Burkitt lymphoma XH4KA9 Orphanet 543 TPD-UTO5WB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UTPETM Familial melanoma QC61.Y Orphanet 618 TPD-UTPUCD Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-UTW4ZN Noonan syndrome LD2F.15 Orphanet 648 TPD-UTW4ZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UTW4ZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UTW4ZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UTW4ZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UTW4ZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UTW4ZN Lynch syndrome 2B90.Y Orphanet 144 TPD-UTW4ZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UTW4ZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UTXK1Y Kennedy disease 8B61.4 Orphanet 481 TPD-UTXK1Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UTXK1Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UTXK1Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UTXV00 Noonan syndrome LD2F.15 Orphanet 648 TPD-UTXV00 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UTXV00 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UTXV00 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UTXV00 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UTXV00 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UTXV00 Lynch syndrome 2B90.Y Orphanet 144 TPD-UTXV00 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UTXV00 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UTZXWB Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-UTZXWB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-UU0MT1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UU0MT1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UU6XAW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UU6XAW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UU6XAW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UU6XAW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UUAPCB Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UUAPCB Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UUBKDB Kennedy disease 8B61.4 Orphanet 481 TPD-UUBKDB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UUBKDB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UUBKDB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UUDU3V Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-UUDU3V Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-UUDU3V Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-UUDU3V Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-UUDU3V Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-UUDU3V Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-UUDU3V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UUDU3V Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-UUDU3V Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UUHHZX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UUJSN7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UUKAQ5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UUKAQ5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UUKAQ5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UUP39M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UUQZNS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UUQZNS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UUR70F Noonan syndrome LD2F.15 Orphanet 648 TPD-UUR70F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UUR70F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UUR70F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UUR70F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UUR70F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UUR70F Lynch syndrome 2B90.Y Orphanet 144 TPD-UUR70F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UUR70F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UUT41F Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UUV9UB Kennedy disease 8B61.4 Orphanet 481 TPD-UUV9UB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UUV9UB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UUV9UB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UUYCTL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UUYCTL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UUYCTL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UUYCTL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UV3VK8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-UV5TZL Kennedy disease 8B61.4 Orphanet 481 TPD-UV5TZL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UV5TZL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UV5TZL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UV766Y Kennedy disease 8B61.4 Orphanet 481 TPD-UV766Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UV766Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UV766Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UV8599 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UV8599 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UV8QUR Kennedy disease 8B61.4 Orphanet 481 TPD-UV8QUR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UV8QUR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UV8QUR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UVATZ3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UVATZ3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UVATZ3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UVEM6Y Noonan syndrome LD2F.15 Orphanet 648 TPD-UVEM6Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UVEM6Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UVEM6Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UVEM6Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UVEM6Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UVEM6Y Lynch syndrome 2B90.Y Orphanet 144 TPD-UVEM6Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UVEM6Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UVGFM2 Kennedy disease 8B61.4 Orphanet 481 TPD-UVGFM2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UVGFM2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UVGFM2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UVQQGN Kennedy disease 8B61.4 Orphanet 481 TPD-UVQQGN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UVQQGN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UVQQGN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UVS853 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-UVS853 CINCA syndrome 4A60.1 Orphanet 1451 TPD-UVS853 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-UVYISQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UVYISQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UVYISQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UVZFOI Noonan syndrome LD2F.15 Orphanet 648 TPD-UVZFOI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UVZFOI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UVZFOI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UVZFOI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UVZFOI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UVZFOI Lynch syndrome 2B90.Y Orphanet 144 TPD-UVZFOI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UVZFOI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UW03VD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UW03VD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UW56VZ Kennedy disease 8B61.4 Orphanet 481 TPD-UW56VZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UW56VZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UW56VZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UW68UD Kennedy disease 8B61.4 Orphanet 481 TPD-UW68UD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UW68UD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UW68UD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UW72HH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UWC8L1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UWC8L1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UWC8L1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UWH9S3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-UWI22M Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UWI22M Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UWJSLX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UWJSLX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UWJSLX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UWN4VA Noonan syndrome LD2F.15 Orphanet 648 TPD-UWN4VA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UWN4VA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UWN4VA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UWN4VA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UWN4VA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UWN4VA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UWN4VA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UWN4VA Craniopharyngioma 2F9A Orphanet 54595 TPD-UWN4VA Cushing disease 5A70.0 Orphanet 96253 TPD-UWNFQ9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UWTOCD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UWTOCD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-UWTOCD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UWX8P5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UWX8P5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UX0H9Z Kennedy disease 8B61.4 Orphanet 481 TPD-UX0H9Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UX0H9Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UX0H9Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UX2JQP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-UX2JQP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-UX6LWI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-UX6LWI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-UX6XRF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UXD03D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UXDZJ4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UXF2EB Noonan syndrome LD2F.15 Orphanet 648 TPD-UXF2EB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UXF2EB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UXF2EB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UXF2EB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UXF2EB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UXF2EB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UXF2EB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UXF2EB Craniopharyngioma 2F9A Orphanet 54595 TPD-UXF2EB Cushing disease 5A70.0 Orphanet 96253 TPD-UXGRJW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UXGRJW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UXHFFS Kennedy disease 8B61.4 Orphanet 481 TPD-UXHFFS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UXHFFS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UXHFFS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UXHHZM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UXHHZM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UXHHZM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UXIG7E Noonan syndrome LD2F.15 Orphanet 648 TPD-UXIG7E Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-UXIG7E Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-UXIG7E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UXIG7E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UXIG7E Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-UXIG7E Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-UXIG7E Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-UXIG7E Craniopharyngioma 2F9A Orphanet 54595 TPD-UXIG7E Cushing disease 5A70.0 Orphanet 96253 TPD-UXIZXD Noonan syndrome LD2F.15 Orphanet 648 TPD-UXIZXD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UXIZXD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UXIZXD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UXIZXD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UXIZXD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UXIZXD Lynch syndrome 2B90.Y Orphanet 144 TPD-UXIZXD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UXIZXD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UXMM8R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UXMMPZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UXOJBS Kennedy disease 8B61.4 Orphanet 481 TPD-UXOJBS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UXOJBS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UXOJBS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UXRU3T Kennedy disease 8B61.4 Orphanet 481 TPD-UXRU3T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UXRU3T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UXRU3T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UXW2D3 Kennedy disease 8B61.4 Orphanet 481 TPD-UXW2D3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UXW2D3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UXW2D3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UY35HF Familial melanoma QC61.Y Orphanet 618 TPD-UY35HF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UY5LVR Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-UY5LVR Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-UY5LVR Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-UY5LVR Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-UY5LVR Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-UY5LVR Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-UY5LVR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UY5LVR Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-UY5LVR Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-UYDM8J Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-UYNNSL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UYNNSL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UYNNSL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UYO718 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UYPBUO Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-UYPSXG Kennedy disease 8B61.4 Orphanet 481 TPD-UYPSXG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UYPSXG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UYPSXG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UYTVZ4 Kennedy disease 8B61.4 Orphanet 481 TPD-UYTVZ4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-UYTVZ4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-UYTVZ4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-UYVYT7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UZ0IDN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UZ4EV6 Noonan syndrome LD2F.15 Orphanet 648 TPD-UZ4EV6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UZ4EV6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UZ4EV6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UZ4EV6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UZ4EV6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UZ4EV6 Lynch syndrome 2B90.Y Orphanet 144 TPD-UZ4EV6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UZ4EV6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UZ52CV Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-UZ9OUU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UZ9OUU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UZ9OUU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UZ9OUU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UZA0Z3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-UZA0Z3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-UZA0Z3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-UZA0Z3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-UZBW4L Noonan syndrome LD2F.15 Orphanet 648 TPD-UZBW4L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UZBW4L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UZBW4L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UZBW4L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UZBW4L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UZBW4L Lynch syndrome 2B90.Y Orphanet 144 TPD-UZBW4L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UZBW4L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UZDFRG Noonan syndrome LD2F.15 Orphanet 648 TPD-UZDFRG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UZDFRG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UZDFRG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UZDFRG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UZDFRG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UZDFRG Lynch syndrome 2B90.Y Orphanet 144 TPD-UZDFRG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UZDFRG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UZDNZF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-UZDNZF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-UZDNZF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-UZF162 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-UZF162 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-UZHWBB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-UZP0NR Familial melanoma QC61.Y Orphanet 618 TPD-UZP0NR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UZPVZ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-UZPVZ7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-UZQAL3 Noonan syndrome LD2F.15 Orphanet 648 TPD-UZQAL3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-UZQAL3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-UZQAL3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-UZQAL3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-UZQAL3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-UZQAL3 Lynch syndrome 2B90.Y Orphanet 144 TPD-UZQAL3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-UZQAL3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-UZWYM9 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-V02171 Noonan syndrome LD2F.15 Orphanet 648 TPD-V02171 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V02171 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V02171 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V02171 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V02171 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V02171 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V02171 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V02171 Craniopharyngioma 2F9A Orphanet 54595 TPD-V02171 Cushing disease 5A70.0 Orphanet 96253 TPD-V0430M CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-V06NAB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V06NAB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V06NAB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V06NAB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V084YP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V08AON Noonan syndrome LD2F.15 Orphanet 648 TPD-V08AON Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V08AON Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V08AON Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V08AON Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V08AON Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V08AON Lynch syndrome 2B90.Y Orphanet 144 TPD-V08AON Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V08AON Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V091X8 Noonan syndrome LD2F.15 Orphanet 648 TPD-V091X8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V091X8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V091X8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V091X8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V091X8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V091X8 Lynch syndrome 2B90.Y Orphanet 144 TPD-V091X8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V091X8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V0C8W4 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-V0DT1U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V0DT1U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V0DT1U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V0ECYH Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V0JCH1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V0JMDQ Kennedy disease 8B61.4 Orphanet 481 TPD-V0JMDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V0JMDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V0JMDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V0N747 Kennedy disease 8B61.4 Orphanet 481 TPD-V0N747 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V0N747 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V0N747 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V0Z1C0 Kennedy disease 8B61.4 Orphanet 481 TPD-V0Z1C0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V0Z1C0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V0Z1C0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V0Z4C0 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-V0ZCAQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V0ZCAQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V128LZ Noonan syndrome LD2F.15 Orphanet 648 TPD-V128LZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V128LZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V128LZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V128LZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V128LZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V128LZ Lynch syndrome 2B90.Y Orphanet 144 TPD-V128LZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V128LZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V12IZJ Familial melanoma QC61.Y Orphanet 618 TPD-V12IZJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V13JB9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V13JB9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V13JB9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V13JB9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V150WD Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-V152NC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V152NC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V19B5V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V19B5V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V19B5V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V1AD0P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V1II6I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V1II6I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V1LNQW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V1LNQW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V1LNQW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V1ORQ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-V1ORQ9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V1ORQ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V1ORQ9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V1ORQ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V1ORQ9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V1ORQ9 Lynch syndrome 2B90.Y Orphanet 144 TPD-V1ORQ9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V1ORQ9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V1P3AH Kennedy disease 8B61.4 Orphanet 481 TPD-V1P3AH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V1P3AH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V1P3AH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V1PH58 Noonan syndrome LD2F.15 Orphanet 648 TPD-V1PH58 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V1PH58 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V1PH58 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V1PH58 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V1PH58 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V1PH58 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V1PH58 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V1PH58 Craniopharyngioma 2F9A Orphanet 54595 TPD-V1PH58 Cushing disease 5A70.0 Orphanet 96253 TPD-V1Q327 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V1QZT5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V1SFAD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V1SFAD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V1ULGF Noonan syndrome LD2F.15 Orphanet 648 TPD-V1ULGF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V1ULGF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V1ULGF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V1ULGF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V1ULGF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V1ULGF Lynch syndrome 2B90.Y Orphanet 144 TPD-V1ULGF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V1ULGF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V1ULIC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V1ULIC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V1ULIC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V1UQF9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V1UQF9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V1W32O Kennedy disease 8B61.4 Orphanet 481 TPD-V1W32O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V1W32O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V1W32O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V1WCHZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V1WL4P Kennedy disease 8B61.4 Orphanet 481 TPD-V1WL4P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V1WL4P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V1WL4P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V213GT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V213GT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V213GT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V213GT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V2A7TY Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V2A7TY Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V2A7TY Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V2A7TY Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V2A7TY Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V2A7TY Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V2A7TY Semantic dementia 6D83 Orphanet 100069 TPD-V2A7TY Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V2AUMX Kennedy disease 8B61.4 Orphanet 481 TPD-V2AUMX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V2AUMX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V2AUMX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V2DYE1 Kennedy disease 8B61.4 Orphanet 481 TPD-V2DYE1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V2DYE1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V2DYE1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V2G5E0 Noonan syndrome LD2F.15 Orphanet 648 TPD-V2G5E0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V2G5E0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V2G5E0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V2G5E0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V2G5E0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V2G5E0 Lynch syndrome 2B90.Y Orphanet 144 TPD-V2G5E0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V2G5E0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V2IQFZ Kennedy disease 8B61.4 Orphanet 481 TPD-V2IQFZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V2IQFZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V2IQFZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V2K11T Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-V2K8T1 Familial melanoma QC61.Y Orphanet 618 TPD-V2K8T1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V2NQQ0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V2NQQ0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V2NQQ0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V2WG6Q Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V2WG6Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V2XJ5J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V2XJ5J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V2XJ5J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V2XJ5J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V32RD1 Kennedy disease 8B61.4 Orphanet 481 TPD-V32RD1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V32RD1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V32RD1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V39VXB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V39VXB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V39VXB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V3B09A Kennedy disease 8B61.4 Orphanet 481 TPD-V3B09A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V3B09A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V3B09A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V3CH6K Noonan syndrome LD2F.15 Orphanet 648 TPD-V3CH6K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V3CH6K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V3CH6K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V3CH6K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V3CH6K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V3CH6K Lynch syndrome 2B90.Y Orphanet 144 TPD-V3CH6K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V3CH6K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V3JKAH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V3JKAH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V3R6UH Noonan syndrome LD2F.15 Orphanet 648 TPD-V3R6UH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V3R6UH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V3R6UH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V3R6UH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V3R6UH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V3R6UH Lynch syndrome 2B90.Y Orphanet 144 TPD-V3R6UH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V3R6UH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V3TE14 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V3TJAW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V3TJAW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V3TJAW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V3TJAW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V408P6 Noonan syndrome LD2F.15 Orphanet 648 TPD-V408P6 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V408P6 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V408P6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V408P6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V408P6 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V408P6 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V408P6 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V408P6 Craniopharyngioma 2F9A Orphanet 54595 TPD-V408P6 Cushing disease 5A70.0 Orphanet 96253 TPD-V40D8N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V40D8N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V45X57 Kennedy disease 8B61.4 Orphanet 481 TPD-V45X57 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V45X57 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V45X57 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V4622Y Kennedy disease 8B61.4 Orphanet 481 TPD-V4622Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V4622Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V4622Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V471GK Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-V4APH8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V4APH8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V4APH8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V4AWVK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V4AWVK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V4AWVK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V4AWVK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V4B2TW Noonan syndrome LD2F.15 Orphanet 648 TPD-V4B2TW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V4B2TW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V4B2TW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V4B2TW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V4B2TW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V4B2TW Lynch syndrome 2B90.Y Orphanet 144 TPD-V4B2TW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V4B2TW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V4BYKO Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V4BYKO Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V4BYKO Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V4BYKO Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V4BYKO Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V4BYKO Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V4BYKO Semantic dementia 6D83 Orphanet 100069 TPD-V4BYKO Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V4FXD5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V4FXD5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V4H93M Kennedy disease 8B61.4 Orphanet 481 TPD-V4H93M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V4H93M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V4H93M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V4HQEE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V4LD6W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V4LD6W Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V4LD6W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V4NTGU Noonan syndrome LD2F.15 Orphanet 648 TPD-V4NTGU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V4NTGU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V4NTGU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V4NTGU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V4NTGU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V4NTGU Lynch syndrome 2B90.Y Orphanet 144 TPD-V4NTGU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V4NTGU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V4OX4C Kennedy disease 8B61.4 Orphanet 481 TPD-V4OX4C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V4OX4C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V4OX4C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V4T1LG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V4T1LG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V4T1LG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V4U2XP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V4U2XP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V4U2XP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V4U2XP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V4UGNI Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-V4UGNI Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-V4UGNI Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-V4V8YB Noonan syndrome LD2F.15 Orphanet 648 TPD-V4V8YB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V4V8YB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V4V8YB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V4V8YB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V4V8YB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V4V8YB Lynch syndrome 2B90.Y Orphanet 144 TPD-V4V8YB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V4V8YB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V4X71I Noonan syndrome LD2F.15 Orphanet 648 TPD-V4X71I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V4X71I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V4X71I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V4X71I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V4X71I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V4X71I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V4X71I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V4X71I Craniopharyngioma 2F9A Orphanet 54595 TPD-V4X71I Cushing disease 5A70.0 Orphanet 96253 TPD-V4ZPQI Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-V4ZPQI Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-V51HHY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V52N6M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V54OIG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V55EWO Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-V55QLX Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-V55QLX Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-V56Z7W Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-V57OEE Noonan syndrome LD2F.15 Orphanet 648 TPD-V57OEE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V57OEE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V57OEE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V57OEE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V57OEE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V57OEE Lynch syndrome 2B90.Y Orphanet 144 TPD-V57OEE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V57OEE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V588QU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V588QU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V588QU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V59RPN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V59RPN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V5A157 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-V5BK4O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V5BK4O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V5BK4O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V5BK4O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V5G40Y Noonan syndrome LD2F.15 Orphanet 648 TPD-V5G40Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V5G40Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V5G40Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V5G40Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V5G40Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V5G40Y Lynch syndrome 2B90.Y Orphanet 144 TPD-V5G40Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V5G40Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V5GNMG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V5KN1E Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-V5O099 Noonan syndrome LD2F.15 Orphanet 648 TPD-V5O099 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V5O099 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V5O099 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V5O099 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V5O099 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V5O099 Lynch syndrome 2B90.Y Orphanet 144 TPD-V5O099 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V5O099 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V5RXTA Noonan syndrome LD2F.15 Orphanet 648 TPD-V5RXTA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V5RXTA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V5RXTA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V5RXTA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V5RXTA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V5RXTA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V5RXTA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V5RXTA Craniopharyngioma 2F9A Orphanet 54595 TPD-V5RXTA Cushing disease 5A70.0 Orphanet 96253 TPD-V5SFQ5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V5SFQ5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V5SFQ5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V5SFQ5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V5U8IC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V5U8IC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V5U8IC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V5YKQH Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-V5YXIL Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-V5ZPAT Kennedy disease 8B61.4 Orphanet 481 TPD-V5ZPAT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V5ZPAT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V5ZPAT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V60JN3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V60JN3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V60JN3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V60PUM Kennedy disease 8B61.4 Orphanet 481 TPD-V60PUM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V60PUM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V60PUM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V64JN2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V64JN2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V64JN2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V652AS Familial melanoma QC61.Y Orphanet 618 TPD-V652AS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V671U0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V671U0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V671U0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V67H5Q Noonan syndrome LD2F.15 Orphanet 648 TPD-V67H5Q Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V67H5Q Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V67H5Q Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V67H5Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V67H5Q Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V67H5Q Lynch syndrome 2B90.Y Orphanet 144 TPD-V67H5Q Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V67H5Q Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V6ASJP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-V6ASJP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-V6C648 Familial melanoma QC61.Y Orphanet 618 TPD-V6C648 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V6HU1M Familial melanoma QC61.Y Orphanet 618 TPD-V6HU1M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V6JUCY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V6JUCY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V6JUCY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V6JUCY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V6LUAM Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-V6PLWP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V6PLWP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V6REZV Kennedy disease 8B61.4 Orphanet 481 TPD-V6REZV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V6REZV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V6REZV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V6RYOO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V6S091 Kennedy disease 8B61.4 Orphanet 481 TPD-V6S091 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V6S091 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V6S091 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V6S091 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-V6S091 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-V6S091 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V6S091 Distal myopathy, Welander type 8C75 Orphanet 603 TPD-V6S9ZS Noonan syndrome LD2F.15 Orphanet 648 TPD-V6S9ZS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V6S9ZS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V6S9ZS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V6S9ZS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V6S9ZS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V6S9ZS Lynch syndrome 2B90.Y Orphanet 144 TPD-V6S9ZS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V6S9ZS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V6V0NK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V6V0NK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V6V0NK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V702P5 Kennedy disease 8B61.4 Orphanet 481 TPD-V702P5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V702P5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V702P5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V729PY Kennedy disease 8B61.4 Orphanet 481 TPD-V729PY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V729PY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V729PY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V72TR8 Noonan syndrome LD2F.15 Orphanet 648 TPD-V72TR8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V72TR8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V72TR8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V72TR8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V72TR8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V72TR8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V72TR8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V72TR8 Craniopharyngioma 2F9A Orphanet 54595 TPD-V72TR8 Cushing disease 5A70.0 Orphanet 96253 TPD-V74DMY Kennedy disease 8B61.4 Orphanet 481 TPD-V74DMY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V74DMY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V74DMY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V77I33 Kennedy disease 8B61.4 Orphanet 481 TPD-V77I33 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V77I33 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V77I33 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V7C8XQ Noonan syndrome LD2F.15 Orphanet 648 TPD-V7C8XQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-V7C9UD Noonan syndrome LD2F.15 Orphanet 648 TPD-V7C9UD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V7C9UD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V7C9UD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V7C9UD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V7C9UD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V7C9UD Lynch syndrome 2B90.Y Orphanet 144 TPD-V7C9UD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V7C9UD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V7CM1G Noonan syndrome LD2F.15 Orphanet 648 TPD-V7CM1G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V7CM1G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V7CM1G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V7CM1G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V7CM1G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V7CM1G Lynch syndrome 2B90.Y Orphanet 144 TPD-V7CM1G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V7CM1G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V7F5ZR Kennedy disease 8B61.4 Orphanet 481 TPD-V7F5ZR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V7F5ZR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V7F5ZR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V7G7HQ Familial melanoma QC61.Y Orphanet 618 TPD-V7G7HQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-V7I2WM Noonan syndrome LD2F.15 Orphanet 648 TPD-V7I2WM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V7I2WM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V7I2WM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V7I2WM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V7I2WM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V7I2WM Lynch syndrome 2B90.Y Orphanet 144 TPD-V7I2WM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V7I2WM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V7K9Z5 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-V7MCX7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V7MCX7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V7MCX7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V7P49G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V7P49G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V7P49G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V7QKVO Kennedy disease 8B61.4 Orphanet 481 TPD-V7QKVO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V7QKVO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V7QKVO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V7RFSC Noonan syndrome LD2F.15 Orphanet 648 TPD-V7RFSC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V7RFSC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V7RFSC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V7RFSC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V7RFSC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V7RFSC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V7RFSC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V7RFSC Craniopharyngioma 2F9A Orphanet 54595 TPD-V7RFSC Cushing disease 5A70.0 Orphanet 96253 TPD-V7TYZH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V7TYZH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V7VDH6 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V7VDH6 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V7VDH6 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V7VDH6 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V7VDH6 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V7VDH6 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V7VDH6 Semantic dementia 6D83 Orphanet 100069 TPD-V7VDH6 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V7VUPS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V7VUPS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V7VUPS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V7XNF3 Kennedy disease 8B61.4 Orphanet 481 TPD-V7XNF3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V7XNF3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V7XNF3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V7YNNJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V7ZTCT Noonan syndrome LD2F.15 Orphanet 648 TPD-V7ZTCT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V7ZTCT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V7ZTCT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V7ZTCT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V7ZTCT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V7ZTCT Lynch syndrome 2B90.Y Orphanet 144 TPD-V7ZTCT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V7ZTCT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V811LN Noonan syndrome LD2F.15 Orphanet 648 TPD-V811LN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V811LN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V811LN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V811LN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V811LN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V811LN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V811LN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V811LN Craniopharyngioma 2F9A Orphanet 54595 TPD-V811LN Cushing disease 5A70.0 Orphanet 96253 TPD-V831SC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V831SC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V8A8Q1 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-V8AX76 Kennedy disease 8B61.4 Orphanet 481 TPD-V8AX76 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V8AX76 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V8AX76 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V8CACZ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-V8CACZ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-V8CACZ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-V8CJU4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V8EC5M Noonan syndrome LD2F.15 Orphanet 648 TPD-V8EC5M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-V8EC5M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-V8EC5M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V8EC5M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V8EC5M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-V8EC5M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-V8EC5M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-V8EC5M Craniopharyngioma 2F9A Orphanet 54595 TPD-V8EC5M Cushing disease 5A70.0 Orphanet 96253 TPD-V8I7QG Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V8I7QG Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V8I7QG Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V8I7QG Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V8I7QG Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V8I7QG Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V8I7QG Semantic dementia 6D83 Orphanet 100069 TPD-V8I7QG Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V8J3RN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V8MFZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-V8MFZ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V8MFZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V8MFZ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V8MFZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V8MFZ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V8MFZ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-V8MFZ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V8MFZ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V8MMSD Kennedy disease 8B61.4 Orphanet 481 TPD-V8MMSD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V8MMSD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V8MMSD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V8MZIO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-V8MZIO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-V8Q2YX Noonan syndrome LD2F.15 Orphanet 648 TPD-V8Q2YX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V8Q2YX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V8Q2YX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V8Q2YX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V8Q2YX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V8Q2YX Lynch syndrome 2B90.Y Orphanet 144 TPD-V8Q2YX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V8Q2YX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V8TJ2L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V8TJ2L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V8TJ2L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V8TZGC Kennedy disease 8B61.4 Orphanet 481 TPD-V8TZGC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V8TZGC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V8TZGC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V8UCER Weaver syndrome LD2C Orphanet 3447 TPD-V8VFBJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-V8VFBJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-V8VU63 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-V8WLHW Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-V8WLHW Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-V91Z90 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V91Z90 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V91Z90 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-V920PF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V920PF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V920PF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V920PF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V920PF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V920PF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V920PF Semantic dementia 6D83 Orphanet 100069 TPD-V920PF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V92LVW Noonan syndrome LD2F.15 Orphanet 648 TPD-V92LVW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-V92LVW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-V92LVW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-V92LVW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-V92LVW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-V92LVW Lynch syndrome 2B90.Y Orphanet 144 TPD-V92LVW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-V92LVW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-V966KP Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-V966KP Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-V966KP Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-V966KP Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-V966KP Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-V966KP Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-V966KP Semantic dementia 6D83 Orphanet 100069 TPD-V966KP Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-V9HRTK Noonan syndrome LD2F.15 Orphanet 648 TPD-V9HRTK Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-V9LOLF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-V9OCQW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-V9P186 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-V9P186 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-V9P186 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-V9P186 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-V9QW6M Kennedy disease 8B61.4 Orphanet 481 TPD-V9QW6M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-V9QW6M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-V9QW6M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-V9U751 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V9U751 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V9VZR4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-V9VZR4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-V9YMTC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-V9YMTC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-V9YMTC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VA0U5M Kennedy disease 8B61.4 Orphanet 481 TPD-VA0U5M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VA0U5M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VA0U5M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VA0XD7 Kennedy disease 8B61.4 Orphanet 481 TPD-VA0XD7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VA0XD7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VA0XD7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VA1JHC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VA1JHC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VA2KEC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VA2KEC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VA33XR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VA33XR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VA5P1K Kennedy disease 8B61.4 Orphanet 481 TPD-VA5P1K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VA5P1K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VA5P1K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VA76DC Noonan syndrome LD2F.15 Orphanet 648 TPD-VA76DC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VA76DC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VA76DC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VA76DC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VA76DC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VA76DC Lynch syndrome 2B90.Y Orphanet 144 TPD-VA76DC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VA76DC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VA7GD8 Familial melanoma QC61.Y Orphanet 618 TPD-VA7GD8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VA8YJZ Noonan syndrome LD2F.15 Orphanet 648 TPD-VA8YJZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VA8YJZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VA8YJZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VA8YJZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VA8YJZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VA8YJZ Lynch syndrome 2B90.Y Orphanet 144 TPD-VA8YJZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VA8YJZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VA983A Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VA983A Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VA983A Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VAD4JD Kennedy disease 8B61.4 Orphanet 481 TPD-VAD4JD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VAD4JD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VAD4JD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VAEB94 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VAEB94 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VAEB94 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VAEB94 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VAG4R6 Kennedy disease 8B61.4 Orphanet 481 TPD-VAG4R6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VAG4R6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VAG4R6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VAI5F5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VAI5F5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VAI5F5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VAI5F5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VAMT79 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VAMT79 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VAMT79 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VAMT79 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VAN6T6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VAOD9L Kennedy disease 8B61.4 Orphanet 481 TPD-VAOD9L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VAOD9L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VAOD9L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VAOOU0 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-VAOOU0 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-VARHTN Kennedy disease 8B61.4 Orphanet 481 TPD-VARHTN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VARHTN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VARHTN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VAU3R3 Kennedy disease 8B61.4 Orphanet 481 TPD-VAU3R3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VAU3R3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VAU3R3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VAVAPP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VAWW17 Noonan syndrome LD2F.15 Orphanet 648 TPD-VAWW17 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VAWW17 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VAWW17 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VAWW17 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VAWW17 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VAWW17 Lynch syndrome 2B90.Y Orphanet 144 TPD-VAWW17 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VAWW17 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VB07S8 Noonan syndrome LD2F.15 Orphanet 648 TPD-VB07S8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VB07S8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VB07S8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VB07S8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VB07S8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VB07S8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VB07S8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VB07S8 Craniopharyngioma 2F9A Orphanet 54595 TPD-VB07S8 Cushing disease 5A70.0 Orphanet 96253 TPD-VB34BU Kennedy disease 8B61.4 Orphanet 481 TPD-VB34BU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VB34BU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VB34BU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VB3ZQ0 Noonan syndrome LD2F.15 Orphanet 648 TPD-VB3ZQ0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VB3ZQ0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VB3ZQ0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VB3ZQ0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VB3ZQ0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VB3ZQ0 Lynch syndrome 2B90.Y Orphanet 144 TPD-VB3ZQ0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VB3ZQ0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VB4CDZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VB7A1I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VB7A1I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VB7A1I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VBAVMA Noonan syndrome LD2F.15 Orphanet 648 TPD-VBAVMA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VBAVMA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VBAVMA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VBAVMA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VBAVMA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VBAVMA Lynch syndrome 2B90.Y Orphanet 144 TPD-VBAVMA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VBAVMA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VBFMMV Noonan syndrome LD2F.15 Orphanet 648 TPD-VBFMMV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VBFMMV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VBFMMV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VBFMMV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VBFMMV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VBFMMV Lynch syndrome 2B90.Y Orphanet 144 TPD-VBFMMV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VBFMMV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VBIR8N Kennedy disease 8B61.4 Orphanet 481 TPD-VBIR8N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VBIR8N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VBIR8N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VBIYPF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VBIYPF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VBIYPF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VBM30J Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-VBS5FH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VBS5FH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VBV4BC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VC2XZG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VC3CYE Noonan syndrome LD2F.15 Orphanet 648 TPD-VC3CYE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VC3CYE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VC3CYE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VC3CYE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VC3CYE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VC3CYE Lynch syndrome 2B90.Y Orphanet 144 TPD-VC3CYE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VC3CYE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VC3FO3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VC42OV Kennedy disease 8B61.4 Orphanet 481 TPD-VC42OV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VC42OV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VC42OV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VC4NE7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VC4NE7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VC4NE7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VC9ZVO Kennedy disease 8B61.4 Orphanet 481 TPD-VC9ZVO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VC9ZVO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VC9ZVO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VCDQB0 Noonan syndrome LD2F.15 Orphanet 648 TPD-VCDQB0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VCDQB0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VCDQB0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VCDQB0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VCDQB0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VCDQB0 Lynch syndrome 2B90.Y Orphanet 144 TPD-VCDQB0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VCDQB0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VCE72T Familial melanoma QC61.Y Orphanet 618 TPD-VCE72T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VCFPLL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VCHLQ9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VCHLQ9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VCLXJ3 Kennedy disease 8B61.4 Orphanet 481 TPD-VCLXJ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VCLXJ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VCLXJ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VCS18D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VCS18D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VCS18D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VCS18D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VCSMGW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VCSMGW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VCVLDT Noonan syndrome LD2F.15 Orphanet 648 TPD-VCVLDT Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-VCVMWZ Kennedy disease 8B61.4 Orphanet 481 TPD-VCVMWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VCVMWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VCVMWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VCVZD7 Noonan syndrome LD2F.15 Orphanet 648 TPD-VCVZD7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VCVZD7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VCVZD7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VCVZD7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VCVZD7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VCVZD7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VCVZD7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VCVZD7 Craniopharyngioma 2F9A Orphanet 54595 TPD-VCVZD7 Cushing disease 5A70.0 Orphanet 96253 TPD-VCW9NA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VCYTJ5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VCYTJ5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VCYTJ5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VCZXZV Familial melanoma QC61.Y Orphanet 618 TPD-VCZXZV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VD2F3H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-VD2F3H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-VD3T30 Kennedy disease 8B61.4 Orphanet 481 TPD-VD3T30 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VD3T30 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VD3T30 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VD5AD5 Familial melanoma QC61.Y Orphanet 618 TPD-VD5AD5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VD8OO5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VD8RM4 Kennedy disease 8B61.4 Orphanet 481 TPD-VD8RM4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VD8RM4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VD8RM4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VDAA7Q Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-VDDGHN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VDEZFK Noonan syndrome LD2F.15 Orphanet 648 TPD-VDEZFK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VDEZFK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VDEZFK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VDEZFK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VDEZFK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VDEZFK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VDEZFK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VDEZFK Craniopharyngioma 2F9A Orphanet 54595 TPD-VDEZFK Cushing disease 5A70.0 Orphanet 96253 TPD-VDGI9P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VDGI9P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VDGI9P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VDJMS3 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VDJMS3 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VDKXVU Kennedy disease 8B61.4 Orphanet 481 TPD-VDKXVU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VDKXVU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VDKXVU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VDMO92 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VDMO92 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VDNLM9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VDOEHT Kennedy disease 8B61.4 Orphanet 481 TPD-VDOEHT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VDOEHT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VDOEHT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VDSU3X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VDSU3X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VDUQQS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VDUQQS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VDX2SV Noonan syndrome LD2F.15 Orphanet 648 TPD-VDX2SV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VDX2SV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VDX2SV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VDX2SV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VDX2SV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VDX2SV Lynch syndrome 2B90.Y Orphanet 144 TPD-VDX2SV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VDX2SV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VDZZ1Z Noonan syndrome LD2F.15 Orphanet 648 TPD-VDZZ1Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VDZZ1Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VDZZ1Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VDZZ1Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VDZZ1Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VDZZ1Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VDZZ1Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VDZZ1Z Craniopharyngioma 2F9A Orphanet 54595 TPD-VDZZ1Z Cushing disease 5A70.0 Orphanet 96253 TPD-VE012O Kennedy disease 8B61.4 Orphanet 481 TPD-VE012O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VE012O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VE012O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VE1N2I Noonan syndrome LD2F.15 Orphanet 648 TPD-VE1N2I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VE1N2I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VE1N2I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VE1N2I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VE1N2I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VE1N2I Lynch syndrome 2B90.Y Orphanet 144 TPD-VE1N2I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VE1N2I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VE45EE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VE45EE Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VE45EE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VE6AAW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VE6AAW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VE6AAW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VE6AAW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VE74ZR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VE7YBY Noonan syndrome LD2F.15 Orphanet 648 TPD-VE7YBY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VE7YBY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VE7YBY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VE7YBY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VE7YBY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VE7YBY Lynch syndrome 2B90.Y Orphanet 144 TPD-VE7YBY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VE7YBY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VE805O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VE805O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VE805O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VE9P3X Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-VECGQT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VED43R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VED43R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VEFD4W Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-VELU1Z Familial melanoma QC61.Y Orphanet 618 TPD-VELU1Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VEO449 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VEO89V Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VEOHZH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VEOHZH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VEOHZH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VEOHZH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VEOHZH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VEOHZH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VEOHZH Semantic dementia 6D83 Orphanet 100069 TPD-VEOHZH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VEOJVP Kennedy disease 8B61.4 Orphanet 481 TPD-VEOJVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VEOJVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VEOJVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VER8MF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VER8MF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VESFJC Kennedy disease 8B61.4 Orphanet 481 TPD-VESFJC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VESFJC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VESFJC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VESZ0X Familial melanoma QC61.Y Orphanet 618 TPD-VESZ0X Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VETUGT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VETUGT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VEZEDD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VEZEDD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VEZEDD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VEZEDD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VF0I1E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VF0I1E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VF0I1E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VF0I1E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VF8Z3P Kennedy disease 8B61.4 Orphanet 481 TPD-VF8Z3P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VF8Z3P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VF8Z3P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VF97XQ Familial melanoma QC61.Y Orphanet 618 TPD-VF97XQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VF9RK2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VFAKDB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VFAKDB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VFAKDB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VFL2SZ Kennedy disease 8B61.4 Orphanet 481 TPD-VFL2SZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VFL2SZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VFL2SZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VFLODS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VFLODS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VFPYPP Noonan syndrome LD2F.15 Orphanet 648 TPD-VFPYPP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VFPYPP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VFPYPP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VFPYPP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VFPYPP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VFPYPP Lynch syndrome 2B90.Y Orphanet 144 TPD-VFPYPP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VFPYPP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VFYX60 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VFYX60 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VFYX60 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VFYX60 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VG00G2 Kennedy disease 8B61.4 Orphanet 481 TPD-VG00G2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VG00G2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VG00G2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VG2S16 Noonan syndrome LD2F.15 Orphanet 648 TPD-VG2S16 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VG2S16 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VG2S16 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VG2S16 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VG2S16 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VG2S16 Lynch syndrome 2B90.Y Orphanet 144 TPD-VG2S16 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VG2S16 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VG2U9Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VG7RQM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VGDP78 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VGDP78 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VGDP78 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VGHO6Z Kennedy disease 8B61.4 Orphanet 481 TPD-VGHO6Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VGHO6Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VGHO6Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VGKZ6X Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-VGPZLG Noonan syndrome LD2F.15 Orphanet 648 TPD-VGPZLG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VGPZLG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VGPZLG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VGPZLG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VGPZLG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VGPZLG Lynch syndrome 2B90.Y Orphanet 144 TPD-VGPZLG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VGPZLG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VGQ6IR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VGQ6IR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VGQ6IR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VGWH79 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VGZDT9 Noonan syndrome LD2F.15 Orphanet 648 TPD-VGZDT9 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-VGZOQN Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VH5AL2 Noonan syndrome LD2F.15 Orphanet 648 TPD-VH5AL2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VH5AL2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VH5AL2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VH5AL2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VH5AL2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VH5AL2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VH5AL2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VH5AL2 Craniopharyngioma 2F9A Orphanet 54595 TPD-VH5AL2 Cushing disease 5A70.0 Orphanet 96253 TPD-VH8RMK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VH99FS Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-VH99FS Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-VH99FS Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-VH99FS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-VH99FS Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-VH99FS Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-VH99FS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VH99FS Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-VH99FS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VHA7UA Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-VHA7UA Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-VHBV1G Kennedy disease 8B61.4 Orphanet 481 TPD-VHBV1G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VHBV1G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VHBV1G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VHK8TU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VHK8TU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VHK8TU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VHOCH9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-VHRJFR Kennedy disease 8B61.4 Orphanet 481 TPD-VHRJFR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VHRJFR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VHRJFR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VHRW3U Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-VHSVFW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VHYWAY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VI4XR4 Kennedy disease 8B61.4 Orphanet 481 TPD-VI4XR4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VI4XR4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VI4XR4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VI5Y5V Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VI5Y5V Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VI5Y5V Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VIAZVW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VIENC9 Kennedy disease 8B61.4 Orphanet 481 TPD-VIENC9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VIENC9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VIENC9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VIFQV9 Noonan syndrome LD2F.15 Orphanet 648 TPD-VIFQV9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VIFQV9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VIFQV9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VIFQV9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VIFQV9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VIFQV9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VIFQV9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VIFQV9 Craniopharyngioma 2F9A Orphanet 54595 TPD-VIFQV9 Cushing disease 5A70.0 Orphanet 96253 TPD-VII2AT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VII2AT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VII2AT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VIJC8T Noonan syndrome LD2F.15 Orphanet 648 TPD-VIJC8T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VIJC8T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VIJC8T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VIJC8T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VIJC8T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VIJC8T Lynch syndrome 2B90.Y Orphanet 144 TPD-VIJC8T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VIJC8T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VIK2GT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VIK2GT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VINPBP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VINPBP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VIVYSA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VIVYSA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VIW08E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VIXCXK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VIXCXK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VIXCXK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VIYJZU Noonan syndrome LD2F.15 Orphanet 648 TPD-VIYJZU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VIYJZU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VIYJZU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VIYJZU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VIYJZU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VIYJZU Lynch syndrome 2B90.Y Orphanet 144 TPD-VIYJZU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VIYJZU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VJ2EYM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VJ587W Familial melanoma QC61.Y Orphanet 618 TPD-VJ587W Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VJ5EUS Kennedy disease 8B61.4 Orphanet 481 TPD-VJ5EUS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VJ5EUS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VJ5EUS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VJEWOR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VJIG58 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VJIG58 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VJIG58 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VJJXW9 Kennedy disease 8B61.4 Orphanet 481 TPD-VJJXW9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VJJXW9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VJJXW9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VJLNPQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VJMXV0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VJOTZZ Kennedy disease 8B61.4 Orphanet 481 TPD-VJOTZZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VJOTZZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VJOTZZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VJYSLE Noonan syndrome LD2F.15 Orphanet 648 TPD-VJYSLE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VJYSLE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VJYSLE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VJYSLE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VJYSLE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VJYSLE Lynch syndrome 2B90.Y Orphanet 144 TPD-VJYSLE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VJYSLE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VJZFRD Familial melanoma QC61.Y Orphanet 618 TPD-VJZFRD Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VK0GMI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VK0GMI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VK0GMI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VK0M6Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VK0M6Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VK0M6Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VK0M6Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VK1PBU Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VK1PBU Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VK1PBU Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VK30I0 Kennedy disease 8B61.4 Orphanet 481 TPD-VK30I0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VK30I0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VK30I0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VK57JW X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-VKA3GJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VKB8MH Kennedy disease 8B61.4 Orphanet 481 TPD-VKB8MH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VKB8MH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VKB8MH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VKGE2S Kennedy disease 8B61.4 Orphanet 481 TPD-VKGE2S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VKGE2S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VKGE2S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VKH74U Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VKH74U Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VKIBD2 Familial melanoma QC61.Y Orphanet 618 TPD-VKIBD2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VKJ69T Kennedy disease 8B61.4 Orphanet 481 TPD-VKJ69T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VKJ69T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VKJ69T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VKJHGK Noonan syndrome LD2F.15 Orphanet 648 TPD-VKJHGK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VKJHGK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VKJHGK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VKJHGK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VKJHGK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VKJHGK Lynch syndrome 2B90.Y Orphanet 144 TPD-VKJHGK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VKJHGK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VKQFJP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VKQFJP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VKQFJP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VKR8RJ Familial melanoma QC61.Y Orphanet 618 TPD-VKR8RJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VKT01B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VKVQKV Noonan syndrome LD2F.15 Orphanet 648 TPD-VKVQKV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VKVQKV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VKVQKV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VKVQKV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VKVQKV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VKVQKV Lynch syndrome 2B90.Y Orphanet 144 TPD-VKVQKV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VKVQKV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VL2F5U Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VL3GAY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VL3GAY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VLAT5H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VLAT5H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VLH2QZ Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VLH2QZ Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VLH3GB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VLH3GB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VLH3GB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VLH3GB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VLOJU3 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-VLVIWZ Kennedy disease 8B61.4 Orphanet 481 TPD-VLVIWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VLVIWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VLVIWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VLYMHQ Noonan syndrome LD2F.15 Orphanet 648 TPD-VLYMHQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VLYMHQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VLYMHQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VLYMHQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VLYMHQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VLYMHQ Lynch syndrome 2B90.Y Orphanet 144 TPD-VLYMHQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VLYMHQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VLZHGK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VLZHGK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VM3Z68 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VM3Z68 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VM6XOY Kennedy disease 8B61.4 Orphanet 481 TPD-VM6XOY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VM6XOY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VM6XOY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VM70G7 Noonan syndrome LD2F.15 Orphanet 648 TPD-VM70G7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VM70G7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VM70G7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VM70G7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VM70G7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VM70G7 Lynch syndrome 2B90.Y Orphanet 144 TPD-VM70G7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VM70G7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VMA20T Kennedy disease 8B61.4 Orphanet 481 TPD-VMA20T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VMA20T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VMA20T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VMBZVR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VMBZVR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VMCKYP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VMCKYP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VMFML3 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VMFML3 Wilson-Turner syndrome LD29 Orphanet 3459 TPD-VMNY8Z Kennedy disease 8B61.4 Orphanet 481 TPD-VMNY8Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VMNY8Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VMNY8Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VMOSZ4 Noonan syndrome LD2F.15 Orphanet 648 TPD-VMOSZ4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VMOSZ4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VMOSZ4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VMOSZ4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VMOSZ4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VMOSZ4 Lynch syndrome 2B90.Y Orphanet 144 TPD-VMOSZ4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VMOSZ4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VMVNQ8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VMVNQ8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VMYNYC Kennedy disease 8B61.4 Orphanet 481 TPD-VMYNYC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VMYNYC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VMYNYC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VN00OX Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-VN00OX CINCA syndrome 4A60.1 Orphanet 1451 TPD-VN00OX Familial cold urticaria 4A60.1 Orphanet 47045 TPD-VN6JZ3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VN6JZ3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VN8A5Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VN8A5Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VN8A5Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VNBACB Noonan syndrome LD2F.15 Orphanet 648 TPD-VNBACB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VNBACB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VNBACB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VNBACB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VNBACB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VNBACB Lynch syndrome 2B90.Y Orphanet 144 TPD-VNBACB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VNBACB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VNEHUV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VNER47 Achondroplasia LD24.00 Orphanet 15 TPD-VNER47 Hypochondroplasia LD24.01 Orphanet 429 TPD-VNER47 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-VNER47 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-VNER47 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-VNER47 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VNER47 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VNER47 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-VNER47 Muenke syndrome LD24.GY Orphanet 53271 TPD-VNER47 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-VNER47 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-VNER47 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-VNF1WU Kennedy disease 8B61.4 Orphanet 481 TPD-VNF1WU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VNF1WU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VNF1WU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VNGR1F Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VNGR1F Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VNGR1F Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VNHG5U Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-VNHG5U Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-VNHG5U Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-VNHG5U Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-VNHG5U Primary myelofibrosis 2A20.2 Orphanet 824 TPD-VNHG5U Polycythemia vera 2A20.4 Orphanet 729 TPD-VNHG5U Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-VNLZX9 Noonan syndrome LD2F.15 Orphanet 648 TPD-VNLZX9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VNLZX9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VNLZX9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VNLZX9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VNLZX9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VNLZX9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VNLZX9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VNLZX9 Craniopharyngioma 2F9A Orphanet 54595 TPD-VNLZX9 Cushing disease 5A70.0 Orphanet 96253 TPD-VNMCYN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VNMCYN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VNMGHY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VNMGHY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VNMGHY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VNMGHY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VNNYXG Noonan syndrome LD2F.15 Orphanet 648 TPD-VNNYXG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VNNYXG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VNNYXG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VNNYXG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VNNYXG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VNNYXG Lynch syndrome 2B90.Y Orphanet 144 TPD-VNNYXG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VNNYXG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VNP33F Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VNP33F Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VNRVQA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VNRVQA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VNRVQA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VNU6UM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VNU6UM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VNU6UM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VNVDZX Kennedy disease 8B61.4 Orphanet 481 TPD-VNVDZX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VNVDZX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VNVDZX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VNW6T7 Kennedy disease 8B61.4 Orphanet 481 TPD-VNW6T7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VNW6T7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VNW6T7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VO0OTD Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-VO0OTD Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-VO0OTD Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-VO0OTD Hereditary hemorrhagic telangiectasia LA90.00 Orphanet 774 TPD-VO0OTD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VO0OTD Generalized juvenile polyposis/juvenile polyposis coli 2B90.Y Orphanet 329971 TPD-VO47X9 Familial melanoma QC61.Y Orphanet 618 TPD-VO47X9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VO5YXQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VO5YXQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VO5YXQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VO68X8 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VO68X8 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VO6RUS Noonan syndrome LD2F.15 Orphanet 648 TPD-VO6RUS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VO6RUS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VO6RUS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VO6RUS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VO6RUS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VO6RUS Lynch syndrome 2B90.Y Orphanet 144 TPD-VO6RUS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VO6RUS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VOCF17 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VOCF17 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VODRNV Kennedy disease 8B61.4 Orphanet 481 TPD-VODRNV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VODRNV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VODRNV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VODSDU Noonan syndrome LD2F.15 Orphanet 648 TPD-VODSDU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VODSDU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VODSDU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VODSDU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VODSDU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VODSDU Lynch syndrome 2B90.Y Orphanet 144 TPD-VODSDU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VODSDU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VOFDDM Noonan syndrome LD2F.15 Orphanet 648 TPD-VOFDDM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VOFDDM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VOFDDM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VOFDDM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VOFDDM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VOFDDM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VOFDDM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VOFDDM Craniopharyngioma 2F9A Orphanet 54595 TPD-VOFDDM Cushing disease 5A70.0 Orphanet 96253 TPD-VOK0YC Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VOKHS2 Noonan syndrome LD2F.15 Orphanet 648 TPD-VOKHS2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VOKHS2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VOKHS2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VOKHS2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VOKHS2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VOKHS2 Lynch syndrome 2B90.Y Orphanet 144 TPD-VOKHS2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VOKHS2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VOPKHB Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-VOQEW0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VOQEW0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VOQEW0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VOSF8R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VOSF8R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VOSF8R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VOSF8R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VOSIDD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VOSIDD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VOXOM6 Familial melanoma QC61.Y Orphanet 618 TPD-VOXOM6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VOY34R Kennedy disease 8B61.4 Orphanet 481 TPD-VOY34R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VOY34R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VOY34R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VOZIL6 Kennedy disease 8B61.4 Orphanet 481 TPD-VOZIL6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VOZIL6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VOZIL6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VP4GY2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VP87QO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VP87QO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VPCUIH Kennedy disease 8B61.4 Orphanet 481 TPD-VPCUIH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VPCUIH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VPCUIH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VPD13O Noonan syndrome LD2F.15 Orphanet 648 TPD-VPD13O Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VPD13O Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-VPD13O Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VPD13O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VPF1XA Kennedy disease 8B61.4 Orphanet 481 TPD-VPF1XA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VPF1XA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VPF1XA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VPIMT4 Kennedy disease 8B61.4 Orphanet 481 TPD-VPIMT4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VPIMT4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VPIMT4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VPKM4W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VPKM4W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VPWZJ2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VPX4H5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VPX4H5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VPX4H5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VPX4H5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VPYNML Kennedy disease 8B61.4 Orphanet 481 TPD-VPYNML Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VPYNML Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VPYNML Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VQ194E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VQ4QTK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VQ54J9 Kennedy disease 8B61.4 Orphanet 481 TPD-VQ54J9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VQ54J9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VQ54J9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VQ9FSZ Familial melanoma QC61.Y Orphanet 618 TPD-VQ9FSZ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VQB4NH Kennedy disease 8B61.4 Orphanet 481 TPD-VQB4NH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VQB4NH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VQB4NH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VQF6FP Noonan syndrome LD2F.15 Orphanet 648 TPD-VQF6FP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VQF6FP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VQF6FP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VQF6FP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VQF6FP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VQF6FP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VQF6FP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VQF6FP Craniopharyngioma 2F9A Orphanet 54595 TPD-VQF6FP Cushing disease 5A70.0 Orphanet 96253 TPD-VQP6EI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VQS0YY Kennedy disease 8B61.4 Orphanet 481 TPD-VQS0YY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VQS0YY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VQS0YY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VQSF6Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VQSF6Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VQSF6Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VQSF6Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VQXWWO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VQXWWO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VQZ43B Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VR05IQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VR81ZP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VR81ZP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VR9YFZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VRAANV Kennedy disease 8B61.4 Orphanet 481 TPD-VRAANV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VRAANV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VRAANV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VRBYC3 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-VRBYC3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-VRICT3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VRICT3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VRICT3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VRJAEB Noonan syndrome LD2F.15 Orphanet 648 TPD-VRJAEB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VRJAEB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VRJAEB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VRJAEB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VRJAEB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VRJAEB Lynch syndrome 2B90.Y Orphanet 144 TPD-VRJAEB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VRJAEB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VRLNY3 Noonan syndrome LD2F.15 Orphanet 648 TPD-VRLNY3 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-VRLODY Kennedy disease 8B61.4 Orphanet 481 TPD-VRLODY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VRLODY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VRLODY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VRS0AQ Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-VRTJP6 Kennedy disease 8B61.4 Orphanet 481 TPD-VRTJP6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VRTJP6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VRTJP6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VRUJ6D Familial melanoma QC61.Y Orphanet 618 TPD-VRUJ6D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VRUYTR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VRUYTR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VRVCKC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VRXHQ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VRXHQ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VRXHQ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VRY5VK Noonan syndrome LD2F.15 Orphanet 648 TPD-VRY5VK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VRY5VK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VRY5VK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VRY5VK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VRY5VK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VRY5VK Lynch syndrome 2B90.Y Orphanet 144 TPD-VRY5VK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VRY5VK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VS60RZ Kennedy disease 8B61.4 Orphanet 481 TPD-VS60RZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VS60RZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VS60RZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VSB4VF Noonan syndrome LD2F.15 Orphanet 648 TPD-VSB4VF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VSB4VF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VSB4VF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VSB4VF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VSB4VF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VSB4VF Lynch syndrome 2B90.Y Orphanet 144 TPD-VSB4VF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VSB4VF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VSDA0K Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VSDA0K Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VSDA0K Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VSDA0K Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VSDA0K Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VSDA0K Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VSDA0K Semantic dementia 6D83 Orphanet 100069 TPD-VSDA0K Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VSG1P0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VSG1P0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VSG1P0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VSJ2W9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VSJ2W9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VSLXN6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VSLXN6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VSLXN6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VSM2ZA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VSM2ZA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VSM2ZA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VSN1S2 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VSNB89 Noonan syndrome LD2F.15 Orphanet 648 TPD-VSNB89 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VSNB89 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VSNB89 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VSNB89 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VSNB89 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VSNB89 Lynch syndrome 2B90.Y Orphanet 144 TPD-VSNB89 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VSNB89 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VSP71Z Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VSQD8B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VSQPCU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VSU1I4 Kennedy disease 8B61.4 Orphanet 481 TPD-VSU1I4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VSU1I4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VSU1I4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VSXH84 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VT0NUI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VT0NUI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VT0NUI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VT0NUI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VT17OD Kennedy disease 8B61.4 Orphanet 481 TPD-VT17OD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VT17OD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VT17OD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VT4XE6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VT4XE6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VT4XE6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VT54LB Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-VT54LB Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-VT54LB Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-VT54LB Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-VT54LB Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-VT54LB Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-VT54LB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VT54LB Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-VT54LB Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VT7CG8 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-VT7CG8 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VT7CG8 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VTD25G Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-VTD25G Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-VTD25G Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-VTD25G Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-VTD25G Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-VTD25G Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-VTD25G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VTD25G Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-VTD25G Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VTD787 Familial melanoma QC61.Y Orphanet 618 TPD-VTD787 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VTDE3C Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-VTDE3C Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-VTDE3C Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-VTDE3C Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-VTDE3C Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-VTDE3C Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-VTDE3C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VTDE3C Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-VTDE3C Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VTFJ6M Noonan syndrome LD2F.15 Orphanet 648 TPD-VTFJ6M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VTFJ6M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VTFJ6M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VTFJ6M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VTFJ6M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VTFJ6M Lynch syndrome 2B90.Y Orphanet 144 TPD-VTFJ6M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VTFJ6M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VTK8RW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VTK8RW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VTN0WM Kennedy disease 8B61.4 Orphanet 481 TPD-VTN0WM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VTN0WM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VTN0WM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VTOD78 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VTPRUE Noonan syndrome LD2F.15 Orphanet 648 TPD-VTPRUE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VTPRUE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VTPRUE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VTPRUE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VTPRUE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VTPRUE Lynch syndrome 2B90.Y Orphanet 144 TPD-VTPRUE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VTPRUE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VTRAWX Familial melanoma QC61.Y Orphanet 618 TPD-VTUA02 Kennedy disease 8B61.4 Orphanet 481 TPD-VTUA02 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VTUA02 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VTUA02 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VTY20K Noonan syndrome LD2F.15 Orphanet 648 TPD-VTY20K Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VTY20K Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VTY20K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VTY20K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VTY20K Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VTY20K Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VTY20K Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VTY20K Craniopharyngioma 2F9A Orphanet 54595 TPD-VTY20K Cushing disease 5A70.0 Orphanet 96253 TPD-VTZ41U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VTZ41U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VU093B Kennedy disease 8B61.4 Orphanet 481 TPD-VU093B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VU093B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VU093B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VU1L1I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VU1L1I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VU1L1I Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VU3APV Kennedy disease 8B61.4 Orphanet 481 TPD-VU3APV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VU3APV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VU3APV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VU3VON Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VU3VON Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VU3VON Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VU3VON Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VU3VON Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VU3VON Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VU3VON Semantic dementia 6D83 Orphanet 100069 TPD-VU3VON Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VU3Z85 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VU3Z85 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VU4KYW Noonan syndrome LD2F.15 Orphanet 648 TPD-VU4KYW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VU4KYW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VU4KYW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VU4KYW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VU4KYW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VU4KYW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VU4KYW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VU4KYW Craniopharyngioma 2F9A Orphanet 54595 TPD-VU4KYW Cushing disease 5A70.0 Orphanet 96253 TPD-VUAA2D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VUGZE2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VUMD22 Noonan syndrome LD2F.15 Orphanet 648 TPD-VUMD22 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VUMD22 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VUMD22 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VUMD22 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VUMD22 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VUMD22 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VUMD22 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VUMD22 Craniopharyngioma 2F9A Orphanet 54595 TPD-VUMD22 Cushing disease 5A70.0 Orphanet 96253 TPD-VUMGTJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VURUTF 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 5C50.6 Orphanet 79351 TPD-VURUTF Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency LD20.1 Orphanet 583607 TPD-VUU5ZJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-VUU5ZJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-VUU5ZJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-VUU5ZJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-VUU5ZJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-VUU5ZJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-VUU5ZJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VUU5ZJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-VUU5ZJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-VUX0ZG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VUX0ZG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VUXB42 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VUXB42 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VUXB42 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VUXB42 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VUYZH6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VUZSKL Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-VV0DDQ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VV1Q36 Noonan syndrome LD2F.15 Orphanet 648 TPD-VV1Q36 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VV1Q36 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VV1Q36 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VV1Q36 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VV1Q36 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VV1Q36 Lynch syndrome 2B90.Y Orphanet 144 TPD-VV1Q36 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VV1Q36 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VV6WHI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VV8M9A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VV8M9A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VV8M9A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VVA70G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VVA70G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VVA70G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VVNHXW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VVNING Familial melanoma QC61.Y Orphanet 618 TPD-VVNING Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VVNVP0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-VVPEWF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VVPEWF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VVPEWF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VVPEWF B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VVRI8V Noonan syndrome LD2F.15 Orphanet 648 TPD-VVRI8V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VVRI8V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VVRI8V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VVRI8V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VVRI8V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VVRI8V Lynch syndrome 2B90.Y Orphanet 144 TPD-VVRI8V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VVRI8V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VVTMJQ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VVU5C2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VVUWF9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VVUWF9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VVUWF9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VVW4XP Familial melanoma QC61.Y Orphanet 618 TPD-VVW4XP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VW3MHT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-VW43LT Noonan syndrome LD2F.15 Orphanet 648 TPD-VW43LT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VW43LT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VW43LT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VW43LT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VW43LT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VW43LT Lynch syndrome 2B90.Y Orphanet 144 TPD-VW43LT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VW43LT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VW4T2P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VW9FH3 Kennedy disease 8B61.4 Orphanet 481 TPD-VW9FH3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VW9FH3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VW9FH3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VWA3ZA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VWA3ZA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VWA3ZA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VWA3ZA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VWA3ZA Neuroblastoma 2A00.11 Orphanet 635 TPD-VWA3ZA Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-VWA3ZA ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-VWA3ZA ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-VWA3ZA Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-VWESY7 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-VWFLPM Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-VWGQZN Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VWGQZN Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VWGQZN Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VWGQZN Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VWGQZN Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VWGQZN Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VWGQZN Semantic dementia 6D83 Orphanet 100069 TPD-VWGQZN Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VWH3ND Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VWH3ND Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-VWKEN4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VWKEN4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VWKEN4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VWLQGZ Noonan syndrome LD2F.15 Orphanet 648 TPD-VWLQGZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VWLQGZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VWLQGZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VWLQGZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VWLQGZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VWLQGZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VWLQGZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VWLQGZ Craniopharyngioma 2F9A Orphanet 54595 TPD-VWLQGZ Cushing disease 5A70.0 Orphanet 96253 TPD-VWLSLI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VWLSLI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VWLSLI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VWLTLJ Kennedy disease 8B61.4 Orphanet 481 TPD-VWLTLJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VWLTLJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VWLTLJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VWM2WM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VWM2WM Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VWM2WM Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VWM2WM Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VWM2WM Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VWM2WM Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VWM2WM Semantic dementia 6D83 Orphanet 100069 TPD-VWM2WM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VWMA9G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VWMA9G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VWMA9G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VWMA9G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VWOKOL Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-VWOKOL Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-VWOKOL Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-VWOKOL Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-VWOKOL Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-VWOKOL Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-VWOKOL Semantic dementia 6D83 Orphanet 100069 TPD-VWOKOL Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-VWV6SI Familial melanoma QC61.Y Orphanet 618 TPD-VWV6SI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VWXZ5L Kennedy disease 8B61.4 Orphanet 481 TPD-VWXZ5L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VWXZ5L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VWXZ5L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VWYBRE Familial melanoma QC61.Y Orphanet 618 TPD-VWYBRE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VWYC0M Familial melanoma QC61.Y Orphanet 618 TPD-VWYC0M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VWYQY3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VWYQY3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VWYQY3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VX0QZ8 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-VX0QZ8 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-VX4EIR Noonan syndrome LD2F.15 Orphanet 648 TPD-VX4EIR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VX4EIR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VX4EIR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VX4EIR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VX4EIR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VX4EIR Lynch syndrome 2B90.Y Orphanet 144 TPD-VX4EIR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VX4EIR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VX9ZUN Familial melanoma QC61.Y Orphanet 618 TPD-VXA1LO Kennedy disease 8B61.4 Orphanet 481 TPD-VXA1LO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VXA1LO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VXA1LO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VXAWFA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VXC5MO Familial melanoma QC61.Y Orphanet 618 TPD-VXC5MO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VXD994 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-VXDHIT Kennedy disease 8B61.4 Orphanet 481 TPD-VXDHIT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VXDHIT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VXDHIT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VXESMZ Noonan syndrome LD2F.15 Orphanet 648 TPD-VXESMZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VXESMZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VXESMZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VXESMZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VXESMZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VXESMZ Lynch syndrome 2B90.Y Orphanet 144 TPD-VXESMZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VXESMZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VXJXV1 Kennedy disease 8B61.4 Orphanet 481 TPD-VXJXV1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VXJXV1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VXJXV1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VXMK0V Noonan syndrome LD2F.15 Orphanet 648 TPD-VXMK0V Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VXMK0V Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VXMK0V Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VXMK0V Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VXMK0V Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VXMK0V Lynch syndrome 2B90.Y Orphanet 144 TPD-VXMK0V Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VXMK0V Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VXNA6E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VXNA6E Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-VXNA6E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VXOAX8 Familial melanoma QC61.Y Orphanet 618 TPD-VXOAX8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VXQMFB Kennedy disease 8B61.4 Orphanet 481 TPD-VXQMFB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VXQMFB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VXQMFB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VXS35S Familial melanoma QC61.Y Orphanet 618 TPD-VXS35S Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VY2YRU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-VY2YRU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-VY37SF Noonan syndrome LD2F.15 Orphanet 648 TPD-VY37SF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VY37SF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VY37SF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VY37SF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VY37SF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VY37SF Lynch syndrome 2B90.Y Orphanet 144 TPD-VY37SF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VY37SF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VY5W9B Noonan syndrome LD2F.15 Orphanet 648 TPD-VY5W9B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VY5W9B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VY5W9B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VY5W9B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VY5W9B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VY5W9B Lynch syndrome 2B90.Y Orphanet 144 TPD-VY5W9B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VY5W9B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VY86TL Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-VY9IRP Kennedy disease 8B61.4 Orphanet 481 TPD-VY9IRP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VY9IRP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VY9IRP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VYBHI0 Achondroplasia LD24.00 Orphanet 15 TPD-VYBHI0 Hypochondroplasia LD24.01 Orphanet 429 TPD-VYBHI0 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-VYBHI0 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-VYBHI0 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-VYBHI0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VYBHI0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VYBHI0 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-VYBHI0 Muenke syndrome LD24.GY Orphanet 53271 TPD-VYBHI0 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-VYBHI0 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-VYBHI0 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-VYCSWX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VYIGTM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VYIGTM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VYIGTM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-VYJ57C Kennedy disease 8B61.4 Orphanet 481 TPD-VYJ57C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VYJ57C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VYJ57C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VYJTO9 Familial melanoma QC61.Y Orphanet 618 TPD-VYJTO9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VYM7NO Kennedy disease 8B61.4 Orphanet 481 TPD-VYM7NO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VYM7NO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VYM7NO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VYQ0JM Kennedy disease 8B61.4 Orphanet 481 TPD-VYQ0JM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VYQ0JM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VYQ0JM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VYRVZI Noonan syndrome LD2F.15 Orphanet 648 TPD-VYRVZI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-VYRVZI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-VYRVZI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VYRVZI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VYRVZI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-VYRVZI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-VYRVZI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-VYRVZI Craniopharyngioma 2F9A Orphanet 54595 TPD-VYRVZI Cushing disease 5A70.0 Orphanet 96253 TPD-VYUASN Noonan syndrome LD2F.15 Orphanet 648 TPD-VYUASN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-VYUASN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-VYUASN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VYUASN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VYUASN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-VYUASN Lynch syndrome 2B90.Y Orphanet 144 TPD-VYUASN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-VYUASN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-VYXCRJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-VYXCRJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-VZ3QI2 Kennedy disease 8B61.4 Orphanet 481 TPD-VZ3QI2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZ3QI2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZ3QI2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VZ9A03 Kennedy disease 8B61.4 Orphanet 481 TPD-VZ9A03 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZ9A03 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZ9A03 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VZB31E Kennedy disease 8B61.4 Orphanet 481 TPD-VZB31E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZB31E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZB31E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VZMKYT Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-VZNOM6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-VZOZZ1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VZOZZ1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VZOZZ1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VZOZZ1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VZVL22 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-VZVL22 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-VZVL22 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-VZVL22 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-VZX6UI Kennedy disease 8B61.4 Orphanet 481 TPD-VZX6UI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZX6UI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZX6UI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VZXBJA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-VZXBJA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-VZY48W Hirschsprung disease LB16.1 Orphanet 388 TPD-VZY48W Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-VZY48W Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-VZYBFB Kennedy disease 8B61.4 Orphanet 481 TPD-VZYBFB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZYBFB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZYBFB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-VZZ65M Noonan syndrome LD2F.15 Orphanet 648 TPD-VZZ65M Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-VZZVST Kennedy disease 8B61.4 Orphanet 481 TPD-VZZVST Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-VZZVST Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-VZZVST Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W00BA3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W00BA3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W00BA3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W00BA3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W00L0G Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W00L0G Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W00L0G Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W014LK Kennedy disease 8B61.4 Orphanet 481 TPD-W014LK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W014LK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W014LK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W027Z8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W029IW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W0AIOZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W0AL5Y Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-W0BZ1W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W0C5J1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W0C5J1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W0FNEU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-W0FNEU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-W0ILH4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W0ILH4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W0ILH4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W0J3E5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W0JIFG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W0K16J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W0K16J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W0K16J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W0K16J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W0LYAE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W0MKLD Noonan syndrome LD2F.15 Orphanet 648 TPD-W0MKLD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W0MKLD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W0MKLD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W0MKLD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W0MKLD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W0MKLD Lynch syndrome 2B90.Y Orphanet 144 TPD-W0MKLD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W0MKLD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W0MZP5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W0N5FG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W0N5FG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W0N5FG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W0SVOI Kennedy disease 8B61.4 Orphanet 481 TPD-W0SVOI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W0SVOI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W0SVOI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W0U5JO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W0U5JO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W0U5JO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W0U5JO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W0WTK9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W0WTK9 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W0WTK9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W0WZ8X Noonan syndrome LD2F.15 Orphanet 648 TPD-W0WZ8X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W0WZ8X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W0WZ8X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W0WZ8X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W0WZ8X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W0WZ8X Lynch syndrome 2B90.Y Orphanet 144 TPD-W0WZ8X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W0WZ8X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W0ZSEX Burkitt lymphoma XH4KA9 Orphanet 543 TPD-W0ZSEX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-W11FYV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W11FYV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W11FYV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W12RG6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W12RG6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W12RG6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W12RG6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W16FCW Kennedy disease 8B61.4 Orphanet 481 TPD-W16FCW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W16FCW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W16FCW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W16T22 Kennedy disease 8B61.4 Orphanet 481 TPD-W16T22 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W16T22 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W16T22 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W189JT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W19QYD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W19QYD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W1AZGR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W1AZGR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W1AZGR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W1AZGR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W1IAZS Noonan syndrome LD2F.15 Orphanet 648 TPD-W1IAZS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W1IAZS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W1IAZS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W1IAZS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W1IAZS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W1IAZS Lynch syndrome 2B90.Y Orphanet 144 TPD-W1IAZS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W1IAZS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W1O42U Noonan syndrome LD2F.15 Orphanet 648 TPD-W1O42U Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W1O42U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W1O42U Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W1O42U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W1O42U Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W1O42U Lynch syndrome 2B90.Y Orphanet 144 TPD-W1O42U Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W1O42U Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W1RO0J Kennedy disease 8B61.4 Orphanet 481 TPD-W1RO0J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W1RO0J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W1RO0J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W1SGBA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W1VRTS Kennedy disease 8B61.4 Orphanet 481 TPD-W1VRTS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W1VRTS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W1VRTS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W1W9EO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-W1X555 Kennedy disease 8B61.4 Orphanet 481 TPD-W1X555 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W1X555 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W1X555 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W21PET X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W21PET Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W22X62 Oligodontia LA30.2 Orphanet 99798 TPD-W237CE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W237CE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W237R8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W237R8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W237R8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W23EPT Kennedy disease 8B61.4 Orphanet 481 TPD-W23EPT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W23EPT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W23EPT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W2432Y Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-W2432Y AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-W2432Y Hemimegalencephaly LA05.1 Orphanet 99802 TPD-W25SLS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-W25SLS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-W25SLS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-W25SLS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-W25SLS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-W25SLS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-W25SLS Semantic dementia 6D83 Orphanet 100069 TPD-W25SLS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-W2BTFH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W2BTFH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W2BTFH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W2E40D Noonan syndrome LD2F.15 Orphanet 648 TPD-W2E40D Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W2E40D Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W2E40D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W2E40D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W2E40D Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W2E40D Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W2E40D Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W2E40D Craniopharyngioma 2F9A Orphanet 54595 TPD-W2E40D Cushing disease 5A70.0 Orphanet 96253 TPD-W2H9MC Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-W2H9MC Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-W2H9MC Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-W2H9MC Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-W2H9MC Craniopharyngioma 2F9A Orphanet 54595 TPD-W2H9MC Pilomatrixoma 2F22 Orphanet 91414 TPD-W2H9MC Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-W2HR7T Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-W2IKJB Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-W2ILN4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W2ILN4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W2ILN4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W2P4LP Kennedy disease 8B61.4 Orphanet 481 TPD-W2P4LP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W2P4LP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W2P4LP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W2QBTO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W2R6QW Kennedy disease 8B61.4 Orphanet 481 TPD-W2R6QW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W2R6QW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W2R6QW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W2WYJ0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W2WYJ0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W2WYJ0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W324HF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W3AAU9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W3CL7S Noonan syndrome LD2F.15 Orphanet 648 TPD-W3CL7S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W3CL7S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W3CL7S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W3CL7S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W3CL7S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W3CL7S Lynch syndrome 2B90.Y Orphanet 144 TPD-W3CL7S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W3CL7S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W3D4EX Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-W3D4EX MODY 5A13.6 Orphanet 552 TPD-W3D4EX Hereditary mixed polyposis syndrome 2E92.40 Orphanet 157794 TPD-W3D4EX Generalized juvenile polyposis/juvenile polyposis coli 2B90.Y Orphanet 329971 TPD-W3D4EX Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-W3D4EX Juvenile polyposis of infancy 2B90.Y Orphanet 79076 TPD-W3D4EX Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-W3D4EX Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-W3D4EX Retinitis pigmentosa 9B70 Orphanet 791 TPD-W3D4EX Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-W3D4EX Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-W3D4EX Preeclampsia JA24/JA24.0/JA24.1 Orphanet 275555 TPD-W3D4EX Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-W3D4EX Williams syndrome LD44.70 Orphanet 904 TPD-W3D4EX Seckel syndrome LD24.D Orphanet 808 TPD-W3D4EX Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-W3D4EX Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-W3DMF5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W3DMF5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W3EK16 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W3EK16 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W3EK16 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W3I2D8 Noonan syndrome LD2F.15 Orphanet 648 TPD-W3I2D8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W3I2D8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W3I2D8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W3I2D8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W3I2D8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W3I2D8 Lynch syndrome 2B90.Y Orphanet 144 TPD-W3I2D8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W3I2D8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W3K53V Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W3K53V Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W3K53V B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W3KE5F Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-W3KE5F Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-W3KE5F Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-W3KE5F Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-W3KE5F Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-W3KE5F Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-W3KE5F Semantic dementia 6D83 Orphanet 100069 TPD-W3KE5F Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-W3P3PO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W3P3PO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W3P3PO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W3RYLO Noonan syndrome LD2F.15 Orphanet 648 TPD-W3RYLO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W3RYLO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W3RYLO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W3RYLO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W3RYLO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W3RYLO Lynch syndrome 2B90.Y Orphanet 144 TPD-W3RYLO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W3RYLO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W3WCXZ Noonan syndrome LD2F.15 Orphanet 648 TPD-W3WCXZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W3WCXZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W3WCXZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W3WCXZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W3WCXZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W3WCXZ Lynch syndrome 2B90.Y Orphanet 144 TPD-W3WCXZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W3WCXZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W3WJUM Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W3WJUM Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W3WJUM B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W3WJUM B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W411GC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W411GC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W411GC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W44AMJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-W46FZG Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-W46FZG Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-W46ZWT Kennedy disease 8B61.4 Orphanet 481 TPD-W46ZWT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W46ZWT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W46ZWT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W49J16 Kennedy disease 8B61.4 Orphanet 481 TPD-W49J16 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W49J16 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W49J16 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W4DIMT Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-W4DIMT Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-W4EEAY Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-W4ENJT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W4ENJT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W4ENJT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W4F3AM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W4FTRO Kennedy disease 8B61.4 Orphanet 481 TPD-W4FTRO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W4FTRO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W4FTRO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W4LPGH Familial melanoma QC61.Y Orphanet 618 TPD-W4LPGH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W4MXLI Noonan syndrome LD2F.15 Orphanet 648 TPD-W4MXLI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W4MXLI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W4MXLI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W4MXLI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W4MXLI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W4MXLI Lynch syndrome 2B90.Y Orphanet 144 TPD-W4MXLI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W4MXLI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W4P07X Noonan syndrome LD2F.15 Orphanet 648 TPD-W4P07X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W4P07X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W4P07X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W4P07X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W4P07X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W4P07X Lynch syndrome 2B90.Y Orphanet 144 TPD-W4P07X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W4P07X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W4WZPJ Kennedy disease 8B61.4 Orphanet 481 TPD-W4WZPJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W4WZPJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W4WZPJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W4XA96 Achondroplasia LD24.00 Orphanet 15 TPD-W4XA96 Hypochondroplasia LD24.01 Orphanet 429 TPD-W4XA96 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-W4XA96 Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-W4XA96 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-W4XA96 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W4XA96 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W4XA96 Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-W4XA96 Muenke syndrome LD24.GY Orphanet 53271 TPD-W4XA96 Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-W4XA96 Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-W4XA96 Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-W4Z89F Noonan syndrome LD2F.15 Orphanet 648 TPD-W4Z89F Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W4Z89F Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W4Z89F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W4Z89F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W4Z89F Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W4Z89F Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W4Z89F Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W4Z89F Craniopharyngioma 2F9A Orphanet 54595 TPD-W4Z89F Cushing disease 5A70.0 Orphanet 96253 TPD-W51BZP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W51BZP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W51BZP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W538RZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W53QUT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W54PLW Noonan syndrome LD2F.15 Orphanet 648 TPD-W54PLW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W54PLW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W54PLW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W54PLW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W54PLW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W54PLW Lynch syndrome 2B90.Y Orphanet 144 TPD-W54PLW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W54PLW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W5AWLP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W5AX37 Kennedy disease 8B61.4 Orphanet 481 TPD-W5AX37 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W5AX37 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W5AX37 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W5CC9K X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W5CC9K Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W5DJT3 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-W5DJT3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-W5EYKK Kennedy disease 8B61.4 Orphanet 481 TPD-W5EYKK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W5EYKK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W5EYKK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W5HLKB Noonan syndrome LD2F.15 Orphanet 648 TPD-W5HLKB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W5HLKB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W5HLKB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W5HLKB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W5HLKB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W5HLKB Lynch syndrome 2B90.Y Orphanet 144 TPD-W5HLKB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W5HLKB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W5HZ6L Kennedy disease 8B61.4 Orphanet 481 TPD-W5HZ6L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W5HZ6L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W5HZ6L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W5MHMW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-W5MHMW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-W5MHMW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-W5MHMW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-W5MHMW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-W5MHMW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-W5MHMW Semantic dementia 6D83 Orphanet 100069 TPD-W5MHMW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-W5MKVB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W5MKVB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W5MKVB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W5MKVB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W5NIUP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W5NXDH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W5NXDH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W5NXDH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W5NXDH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W5R6AC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W5STM2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W5TYJ1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W5TYJ1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W5XSDD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W5XSDD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W5XSDD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W5XSDD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W5ZTB4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W5ZTB4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W5ZTB4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W5ZTB4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W60PIV Noonan syndrome LD2F.15 Orphanet 648 TPD-W60PIV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W60PIV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W60PIV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W60PIV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W60PIV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W60PIV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W60PIV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W60PIV Craniopharyngioma 2F9A Orphanet 54595 TPD-W60PIV Cushing disease 5A70.0 Orphanet 96253 TPD-W62YQZ Kennedy disease 8B61.4 Orphanet 481 TPD-W62YQZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W62YQZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W62YQZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W64LSX Kennedy disease 8B61.4 Orphanet 481 TPD-W64LSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W64LSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W64LSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W66ADM CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-W67OK7 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-W68ALF Familial melanoma QC61.Y Orphanet 618 TPD-W68ALF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W68C66 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W68C66 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W69GVS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W69GVS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W69GVS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W69OW2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W6AFJQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W6AFJQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W6AFJQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W6AFJQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W6BECN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W6BECN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W6BECN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W6C1HC Noonan syndrome LD2F.15 Orphanet 648 TPD-W6C1HC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W6C1HC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W6C1HC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W6C1HC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W6C1HC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W6C1HC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W6C1HC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W6C1HC Craniopharyngioma 2F9A Orphanet 54595 TPD-W6C1HC Cushing disease 5A70.0 Orphanet 96253 TPD-W6HF2L Kennedy disease 8B61.4 Orphanet 481 TPD-W6HF2L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W6HF2L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W6HF2L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W6JWXJ Familial melanoma QC61.Y Orphanet 618 TPD-W6JWXJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W6KU3J Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-W6KU3J Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-W6KU3J Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-W6KU3J Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-W6KU3J Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-W6KU3J Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-W6KU3J Semantic dementia 6D83 Orphanet 100069 TPD-W6KU3J Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-W6L5BA Noonan syndrome LD2F.15 Orphanet 648 TPD-W6L5BA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W6L5BA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W6L5BA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W6L5BA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W6L5BA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W6L5BA Lynch syndrome 2B90.Y Orphanet 144 TPD-W6L5BA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W6L5BA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W6OLQJ Familial melanoma QC61.Y Orphanet 618 TPD-W6OLQJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W6Q6Q4 Noonan syndrome LD2F.15 Orphanet 648 TPD-W6Q6Q4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W6Q6Q4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W6Q6Q4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W6Q6Q4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W6Q6Q4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W6Q6Q4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W6Q6Q4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W6Q6Q4 Craniopharyngioma 2F9A Orphanet 54595 TPD-W6Q6Q4 Cushing disease 5A70.0 Orphanet 96253 TPD-W6SYBU Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-W6SYBU Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-W6SYBU Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-W6SYBU Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-W6SYBU Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-W6SYBU Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-W6SYBU Semantic dementia 6D83 Orphanet 100069 TPD-W6SYBU Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-W6TGSE Kennedy disease 8B61.4 Orphanet 481 TPD-W6TGSE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W6TGSE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W6TGSE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W78TD9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W78TD9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-W79GRG Noonan syndrome LD2F.15 Orphanet 648 TPD-W79GRG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W79GRG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W79GRG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W79GRG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W79GRG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W79GRG Lynch syndrome 2B90.Y Orphanet 144 TPD-W79GRG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W79GRG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W7AG76 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W7AG76 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-W7AOKZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W7AOKZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W7AOKZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W7B9RZ Noonan syndrome LD2F.15 Orphanet 648 TPD-W7B9RZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W7B9RZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W7B9RZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W7B9RZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W7B9RZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W7B9RZ Lynch syndrome 2B90.Y Orphanet 144 TPD-W7B9RZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W7B9RZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W7DGBU Burkitt lymphoma XH4KA9 Orphanet 543 TPD-W7DGBU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-W7DGBU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-W7EBL3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W7FDZ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-W7FDZ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W7FDZ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W7FDZ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W7FDZ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W7FDZ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W7FDZ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-W7FDZ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W7FDZ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W7JTC1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W7JTC1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W7L90I Noonan syndrome LD2F.15 Orphanet 648 TPD-W7L90I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W7L90I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W7L90I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W7L90I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W7L90I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W7L90I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W7L90I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W7L90I Craniopharyngioma 2F9A Orphanet 54595 TPD-W7L90I Cushing disease 5A70.0 Orphanet 96253 TPD-W7LLNM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W7LLNM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W7LLNM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W7MINT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W7MINT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W7MINT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W7NS69 Weaver syndrome LD2C Orphanet 3447 TPD-W7NU71 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W7NU71 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-W7U1VE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W7U1VE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W7VM8N Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W7VM8N Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W7VSU4 Noonan syndrome LD2F.15 Orphanet 648 TPD-W7VSU4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W7VSU4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W7VSU4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W7VSU4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W7VSU4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W7VSU4 Lynch syndrome 2B90.Y Orphanet 144 TPD-W7VSU4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W7VSU4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W7WWLJ Noonan syndrome LD2F.15 Orphanet 648 TPD-W7WWLJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W7WWLJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W7WWLJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W7WWLJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W7WWLJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W7WWLJ Lynch syndrome 2B90.Y Orphanet 144 TPD-W7WWLJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W7WWLJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W7Y8XE Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-W7Z7C6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W80D97 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-W80D97 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-W84M2M Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W84M2M Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W84M2M Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W857PU Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-W86CGB Noonan syndrome LD2F.15 Orphanet 648 TPD-W86CGB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W86CGB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W86CGB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W86CGB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W86CGB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W86CGB Lynch syndrome 2B90.Y Orphanet 144 TPD-W86CGB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W86CGB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W895I5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W895I5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W895I5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W895I5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W89JFV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-W8A049 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-W8A049 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-W8A049 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-W8DQAR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W8DQAR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W8DQAR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W8F3GW Kennedy disease 8B61.4 Orphanet 481 TPD-W8F3GW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W8F3GW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W8F3GW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W8G7SQ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-W8J4D4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W8J4D4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W8J4D4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W8L0RB Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W8LKJS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-W8LTJE Familial melanoma QC61.Y Orphanet 618 TPD-W8LTJE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W8OAWK Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W8QDAR Kennedy disease 8B61.4 Orphanet 481 TPD-W8QDAR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W8QDAR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W8QDAR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W8TTJQ Kennedy disease 8B61.4 Orphanet 481 TPD-W8TTJQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W8TTJQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W8TTJQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W8VBDA Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-W8VBDA Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-W8VYNL Noonan syndrome LD2F.15 Orphanet 648 TPD-W8VYNL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W8VYNL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W8VYNL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W8VYNL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W8VYNL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W8VYNL Lynch syndrome 2B90.Y Orphanet 144 TPD-W8VYNL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W8VYNL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W8WLG6 Kennedy disease 8B61.4 Orphanet 481 TPD-W8WLG6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W8WLG6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W8WLG6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W932JR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-W93GTI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W93GTI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W93GTI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W9AZ8J Kennedy disease 8B61.4 Orphanet 481 TPD-W9AZ8J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W9AZ8J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W9AZ8J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W9BQVS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-W9F5W4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-W9GJ9N Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W9H84A Familial melanoma QC61.Y Orphanet 618 TPD-W9H84A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-W9HPSI Noonan syndrome LD2F.15 Orphanet 648 TPD-W9HPSI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W9HPSI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W9HPSI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W9HPSI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W9HPSI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W9HPSI Lynch syndrome 2B90.Y Orphanet 144 TPD-W9HPSI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W9HPSI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W9IL8Y Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-W9IWG3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W9IWG3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W9IWG3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W9KRXP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-W9KRXP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-W9KRXP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-W9L5ZI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-W9L5ZI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-W9L5ZI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-W9L5ZI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-W9M4UF Kennedy disease 8B61.4 Orphanet 481 TPD-W9M4UF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W9M4UF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W9M4UF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W9MAOD Kennedy disease 8B61.4 Orphanet 481 TPD-W9MAOD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W9MAOD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W9MAOD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W9ORP2 Kennedy disease 8B61.4 Orphanet 481 TPD-W9ORP2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-W9ORP2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-W9ORP2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-W9PG9A Noonan syndrome LD2F.15 Orphanet 648 TPD-W9PG9A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-W9PG9A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W9PG9A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-W9PG9A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W9PG9A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-W9PG9A Lynch syndrome 2B90.Y Orphanet 144 TPD-W9PG9A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-W9PG9A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-W9RSBE Weaver syndrome LD2C Orphanet 3447 TPD-W9XPSB Noonan syndrome LD2F.15 Orphanet 648 TPD-W9XPSB Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-W9XPSB Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-W9XPSB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-W9XPSB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-W9XPSB Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-W9XPSB Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-W9XPSB Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-W9XPSB Craniopharyngioma 2F9A Orphanet 54595 TPD-W9XPSB Cushing disease 5A70.0 Orphanet 96253 TPD-W9XUYX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WA3N0Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WA3N0Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WA3N0Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WA3N0Q B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WA7FA7 Kennedy disease 8B61.4 Orphanet 481 TPD-WA7FA7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WA7FA7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WA7FA7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WAC9PG Noonan syndrome LD2F.15 Orphanet 648 TPD-WAC9PG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WAC9PG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WAC9PG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WAC9PG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WAC9PG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WAC9PG Lynch syndrome 2B90.Y Orphanet 144 TPD-WAC9PG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WAC9PG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WAEH3E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WAOVRF Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-WAOVRF Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-WAR3TD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WAR3TD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WAR3TD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WAU8HH Kennedy disease 8B61.4 Orphanet 481 TPD-WAU8HH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WAU8HH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WAU8HH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WAWD7S Noonan syndrome LD2F.15 Orphanet 648 TPD-WAWD7S Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WAWD7S Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WAWD7S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WAWD7S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WAWD7S Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WAWD7S Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WAWD7S Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WAWD7S Craniopharyngioma 2F9A Orphanet 54595 TPD-WAWD7S Cushing disease 5A70.0 Orphanet 96253 TPD-WAY7JR Kennedy disease 8B61.4 Orphanet 481 TPD-WAY7JR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WAY7JR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WAY7JR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WAZ5Q0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WAZ5Q0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WAZ5Q0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WAZXI4 Kennedy disease 8B61.4 Orphanet 481 TPD-WAZXI4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WAZXI4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WAZXI4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WB0K8B Familial melanoma QC61.Y Orphanet 618 TPD-WB0K8B Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WB2UMU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WB2UMU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WB2UMU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WB2UMU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WB6DCS Kennedy disease 8B61.4 Orphanet 481 TPD-WB6DCS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WB6DCS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WB6DCS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WB76EN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WB76EN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WB8QYT Noonan syndrome LD2F.15 Orphanet 648 TPD-WB8QYT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WB8QYT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WB8QYT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WB8QYT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WB8QYT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WB8QYT Lynch syndrome 2B90.Y Orphanet 144 TPD-WB8QYT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WB8QYT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WBAXGN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WBE93K Kennedy disease 8B61.4 Orphanet 481 TPD-WBE93K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WBE93K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WBE93K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WBEFIP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WBEFIP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WBEFIP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WBFQPQ Noonan syndrome LD2F.15 Orphanet 648 TPD-WBFQPQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WBFQPQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WBFQPQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WBFQPQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WBFQPQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WBFQPQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WBFQPQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WBFQPQ Craniopharyngioma 2F9A Orphanet 54595 TPD-WBFQPQ Cushing disease 5A70.0 Orphanet 96253 TPD-WBHYYQ Noonan syndrome LD2F.15 Orphanet 648 TPD-WBHYYQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WBHYYQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WBHYYQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WBHYYQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WBHYYQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WBHYYQ Lynch syndrome 2B90.Y Orphanet 144 TPD-WBHYYQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WBHYYQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WBHZXM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WBHZXM Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WBHZXM Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WBHZXM Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WBHZXM Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WBHZXM Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WBHZXM Semantic dementia 6D83 Orphanet 100069 TPD-WBHZXM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WBJBNV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WBJBNV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WBJSWU Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-WBJSWU Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-WBJSWU Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-WBJSWU Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-WBJSWU Craniopharyngioma 2F9A Orphanet 54595 TPD-WBJSWU Pilomatrixoma 2F22 Orphanet 91414 TPD-WBJSWU Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-WBKC72 Noonan syndrome LD2F.15 Orphanet 648 TPD-WBKC72 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WBKC72 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WBKC72 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WBKC72 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WBKC72 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WBKC72 Lynch syndrome 2B90.Y Orphanet 144 TPD-WBKC72 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WBKC72 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WBKFSR Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WBN7DR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WBNB8B X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WBNB8B Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WBQ0HG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WBQ0HG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WBQ0HG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WBQ0HG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WBQY00 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WBQY00 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WBQY00 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WBQY00 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WBSUCF Kennedy disease 8B61.4 Orphanet 481 TPD-WBSUCF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WBSUCF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WBSUCF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WBTCYR Kennedy disease 8B61.4 Orphanet 481 TPD-WBTCYR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WBTCYR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WBTCYR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WBU3ZM Noonan syndrome LD2F.15 Orphanet 648 TPD-WBU3ZM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WBU3ZM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WBU3ZM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WBU3ZM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WBU3ZM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WBU3ZM Lynch syndrome 2B90.Y Orphanet 144 TPD-WBU3ZM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WBU3ZM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WBUEKO Noonan syndrome LD2F.15 Orphanet 648 TPD-WBUEKO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WBUEKO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WBUEKO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WBUEKO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WBUEKO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WBUEKO Lynch syndrome 2B90.Y Orphanet 144 TPD-WBUEKO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WBUEKO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WBXR20 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WBXR20 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WBXR20 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WBXR20 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WC0GTG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WC0GTG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WC0GTG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WC0GTG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WC2976 Kennedy disease 8B61.4 Orphanet 481 TPD-WC2976 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WC2976 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WC2976 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WC2T7H Weaver syndrome LD2C Orphanet 3447 TPD-WC79RA Kennedy disease 8B61.4 Orphanet 481 TPD-WC79RA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WC79RA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WC79RA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WC7NHK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WC9LGM Noonan syndrome LD2F.15 Orphanet 648 TPD-WC9LGM Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WC9LGM Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WC9LGM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WC9LGM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WC9LGM Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WC9LGM Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WC9LGM Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WC9LGM Craniopharyngioma 2F9A Orphanet 54595 TPD-WC9LGM Cushing disease 5A70.0 Orphanet 96253 TPD-WCCD9O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WCCD9O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WCCD9O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WCF77H Kennedy disease 8B61.4 Orphanet 481 TPD-WCF77H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WCF77H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WCF77H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WCG3PJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WCIZQD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WCIZQD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WCIZQD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WCJPFQ Noonan syndrome LD2F.15 Orphanet 648 TPD-WCJPFQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WCJPFQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WCJPFQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WCJPFQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WCJPFQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WCJPFQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WCJPFQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WCJPFQ Craniopharyngioma 2F9A Orphanet 54595 TPD-WCJPFQ Cushing disease 5A70.0 Orphanet 96253 TPD-WCN19P Familial melanoma QC61.Y Orphanet 618 TPD-WCOR8O Familial melanoma QC61.Y Orphanet 618 TPD-WCOR8O Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WCSVZ8 Kennedy disease 8B61.4 Orphanet 481 TPD-WCSVZ8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WCSVZ8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WCSVZ8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WCT5UE Kennedy disease 8B61.4 Orphanet 481 TPD-WCT5UE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WCT5UE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WCT5UE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WCTILD Kennedy disease 8B61.4 Orphanet 481 TPD-WCTILD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WCTILD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WCTILD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WCU1J0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WCU1J0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WCY6CA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WCY6CA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WCY6CA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WCY6CA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WCY6CA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WCY6CA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WCY6CA Semantic dementia 6D83 Orphanet 100069 TPD-WCY6CA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WCYNU2 Kennedy disease 8B61.4 Orphanet 481 TPD-WCYNU2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WCYNU2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WCYNU2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WCZ54Z Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WCZ54Z Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WCZ54Z Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WCZ54Z Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WCZ54Z Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WCZ54Z Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WCZ54Z Semantic dementia 6D83 Orphanet 100069 TPD-WCZ54Z Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WD0FT4 Kennedy disease 8B61.4 Orphanet 481 TPD-WD0FT4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WD0FT4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WD0FT4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WD0TNT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WD0TNT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WD13Y3 Noonan syndrome LD2F.15 Orphanet 648 TPD-WD13Y3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WD13Y3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WD13Y3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WD13Y3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WD13Y3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WD13Y3 Lynch syndrome 2B90.Y Orphanet 144 TPD-WD13Y3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WD13Y3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WD2CZT Kennedy disease 8B61.4 Orphanet 481 TPD-WD2CZT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WD2CZT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WD2CZT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WD2GFS X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WD2GFS Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WD3OQQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WD3OQQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WD4HWE Noonan syndrome LD2F.15 Orphanet 648 TPD-WD4HWE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WD4HWE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WD4HWE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WD4HWE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WD4HWE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WD4HWE Lynch syndrome 2B90.Y Orphanet 144 TPD-WD4HWE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WD4HWE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WD6P95 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WD6P95 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WD6P95 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WD6P95 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WD755K Kennedy disease 8B61.4 Orphanet 481 TPD-WD755K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WD755K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WD755K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WD894G Kennedy disease 8B61.4 Orphanet 481 TPD-WD894G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WD894G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WD894G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WDEAXX Kennedy disease 8B61.4 Orphanet 481 TPD-WDEAXX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WDEAXX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WDEAXX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WDI4CR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WDJOCW Noonan syndrome LD2F.15 Orphanet 648 TPD-WDJOCW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WDJOCW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WDJOCW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WDJOCW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WDJOCW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WDJOCW Lynch syndrome 2B90.Y Orphanet 144 TPD-WDJOCW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WDJOCW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WDK7TD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WDK7TD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WDKCJ6 Noonan syndrome LD2F.15 Orphanet 648 TPD-WDKCJ6 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-WDKMKP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WDKMKP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WDKMKP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WDKMKP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WDQ42O Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-WDQ5LU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WDQ5LU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WDQ5LU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WDQ5LU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WDRRHI Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-WDWLD7 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-WDWNYD Noonan syndrome LD2F.15 Orphanet 648 TPD-WDWNYD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WDWNYD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WDWNYD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WDWNYD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WDWNYD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WDWNYD Lynch syndrome 2B90.Y Orphanet 144 TPD-WDWNYD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WDWNYD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WDX01P Kennedy disease 8B61.4 Orphanet 481 TPD-WDX01P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WDX01P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WDX01P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WDY5N9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WDY5N9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WE1MG3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WE1MG3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WE1MG3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WE44D4 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-WE6DPI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WE9F46 Kennedy disease 8B61.4 Orphanet 481 TPD-WE9F46 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WE9F46 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WE9F46 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WEBL01 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WEBL01 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WEBL01 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WEBL01 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WEHTRJ Familial melanoma QC61.Y Orphanet 618 TPD-WEHTRJ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WEJ29J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WEJ29J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WEJ29J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WEL3KF Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WEL3KF Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WEL3KF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WEM6UF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WEM6UF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WEM6UF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WEM6UF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WEM6UF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WEM6UF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WEM6UF Semantic dementia 6D83 Orphanet 100069 TPD-WEM6UF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WENW2D Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-WES51M Noonan syndrome LD2F.15 Orphanet 648 TPD-WES51M Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-WET8LU Kennedy disease 8B61.4 Orphanet 481 TPD-WET8LU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WET8LU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WET8LU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WEXC4G Noonan syndrome LD2F.15 Orphanet 648 TPD-WEXC4G Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WEXC4G Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WEXC4G Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WEXC4G Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WEXC4G Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WEXC4G Lynch syndrome 2B90.Y Orphanet 144 TPD-WEXC4G Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WEXC4G Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WEYAP0 Kennedy disease 8B61.4 Orphanet 481 TPD-WEYAP0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WEYAP0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WEYAP0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WEYEY2 Kennedy disease 8B61.4 Orphanet 481 TPD-WEYEY2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WEYEY2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WEYEY2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WF4NAN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WF4WWB Noonan syndrome LD2F.15 Orphanet 648 TPD-WF4WWB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WF4WWB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WF4WWB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WF4WWB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WF4WWB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WF4WWB Lynch syndrome 2B90.Y Orphanet 144 TPD-WF4WWB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WF4WWB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WF6KJF Familial melanoma QC61.Y Orphanet 618 TPD-WF6KJF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WF75UK Kennedy disease 8B61.4 Orphanet 481 TPD-WF75UK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WF75UK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WF75UK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WF8SJJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WF8SJJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WF8SJJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WFG59F Noonan syndrome LD2F.15 Orphanet 648 TPD-WFG59F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WFG59F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WFG59F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WFG59F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WFG59F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WFG59F Lynch syndrome 2B90.Y Orphanet 144 TPD-WFG59F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WFG59F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WFGFXO Noonan syndrome LD2F.15 Orphanet 648 TPD-WFGFXO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WFGFXO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WFGFXO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WFGFXO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WFGFXO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WFGFXO Lynch syndrome 2B90.Y Orphanet 144 TPD-WFGFXO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WFGFXO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WFIAR6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WFIAR6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WFIAR6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WFMEAL Noonan syndrome LD2F.15 Orphanet 648 TPD-WFMEAL Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-WFO22E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WFQQKS Noonan syndrome LD2F.15 Orphanet 648 TPD-WFQQKS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WFQQKS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WFQQKS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WFQQKS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WFQQKS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WFQQKS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WFQQKS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WFQQKS Craniopharyngioma 2F9A Orphanet 54595 TPD-WFQQKS Cushing disease 5A70.0 Orphanet 96253 TPD-WFR99C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WFUSPW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WFUSPW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WFUSPW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WFZIKL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WFZIKL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WFZIKL Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WG1VCU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WG9IUS Burkitt lymphoma XH4KA9 Orphanet 543 TPD-WG9IUS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-WGA8QK Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WGA8QK Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WGA8QK Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WGEXRJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WGLKUR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WGLKUR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WGO9SP Noonan syndrome LD2F.15 Orphanet 648 TPD-WGO9SP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WGO9SP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WGO9SP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WGO9SP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WGO9SP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WGO9SP Lynch syndrome 2B90.Y Orphanet 144 TPD-WGO9SP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WGO9SP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WGSAHB Kennedy disease 8B61.4 Orphanet 481 TPD-WGSAHB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WGSAHB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WGSAHB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WGSJPD Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-WGSJPD Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-WGSJPD Primary myelofibrosis 2A20.2 Orphanet 824 TPD-WGSJPD Polycythemia vera 2A20.4 Orphanet 729 TPD-WGSJPD Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-WGSJPD Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-WGSJPD T-B+ severe combined immunodeficiency due to JAK3 deficiency 4A01.10 Orphanet 35078 TPD-WGURIY Kennedy disease 8B61.4 Orphanet 481 TPD-WGURIY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WGURIY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WGURIY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WH2D7A Kennedy disease 8B61.4 Orphanet 481 TPD-WH2D7A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WH2D7A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WH2D7A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WH4TIB Noonan syndrome LD2F.15 Orphanet 648 TPD-WH4TIB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WH4TIB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WH4TIB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WH4TIB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WH4TIB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WH4TIB Lynch syndrome 2B90.Y Orphanet 144 TPD-WH4TIB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WH4TIB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WH8VE2 Noonan syndrome LD2F.15 Orphanet 648 TPD-WH8VE2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WH8VE2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WH8VE2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WH8VE2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WH8VE2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WH8VE2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WH8VE2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WH8VE2 Craniopharyngioma 2F9A Orphanet 54595 TPD-WH8VE2 Cushing disease 5A70.0 Orphanet 96253 TPD-WHCCDI Weaver syndrome LD2C Orphanet 3447 TPD-WHD175 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WHGHI3 Familial melanoma QC61.Y Orphanet 618 TPD-WHGHI3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WHHO2W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WHILSA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WHILSA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WHKPGO Noonan syndrome LD2F.15 Orphanet 648 TPD-WHKPGO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WHKPGO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WHKPGO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WHKPGO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WHKPGO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WHKPGO Lynch syndrome 2B90.Y Orphanet 144 TPD-WHKPGO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WHKPGO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WHLUK4 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WHOQ9I Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-WHRHSR Kennedy disease 8B61.4 Orphanet 481 TPD-WHRHSR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WHRHSR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WHRHSR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WHSUSK Noonan syndrome LD2F.15 Orphanet 648 TPD-WHSUSK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WHSUSK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WHSUSK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WHSUSK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WHSUSK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WHSUSK Lynch syndrome 2B90.Y Orphanet 144 TPD-WHSUSK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WHSUSK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WHTUZB Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-WHYLIX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WHZHZC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WI3XZ2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WI47A7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WI47A7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WI52CS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WI52CS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WI52CS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WI8THB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WIF0TF Noonan syndrome LD2F.15 Orphanet 648 TPD-WIF0TF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WIF0TF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WIF0TF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WIF0TF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WIF0TF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WIF0TF Lynch syndrome 2B90.Y Orphanet 144 TPD-WIF0TF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WIF0TF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WIILHV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WIKUSI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WIL7M2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WIMI4Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WIMI4Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WIMI4Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WINXTD Noonan syndrome LD2F.15 Orphanet 648 TPD-WINXTD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WINXTD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WINXTD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WINXTD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WINXTD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WINXTD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WINXTD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WINXTD Craniopharyngioma 2F9A Orphanet 54595 TPD-WINXTD Cushing disease 5A70.0 Orphanet 96253 TPD-WIOH22 Kennedy disease 8B61.4 Orphanet 481 TPD-WIOH22 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WIOH22 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WIOH22 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WIQHC7 Kennedy disease 8B61.4 Orphanet 481 TPD-WIQHC7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WIQHC7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WIQHC7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WITXWZ Kennedy disease 8B61.4 Orphanet 481 TPD-WITXWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WITXWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WITXWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WIULG7 Noonan syndrome LD2F.15 Orphanet 648 TPD-WIULG7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WIULG7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WIULG7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WIULG7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WIULG7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WIULG7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WIULG7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WIULG7 Craniopharyngioma 2F9A Orphanet 54595 TPD-WIULG7 Cushing disease 5A70.0 Orphanet 96253 TPD-WIV2UO Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WIV2UO Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WIV2UO B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WIV2UO B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WIYGP6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WIYGP6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WJ3HUT Kennedy disease 8B61.4 Orphanet 481 TPD-WJ3HUT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WJ3HUT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WJ3HUT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WJ4G8B Kennedy disease 8B61.4 Orphanet 481 TPD-WJ4G8B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WJ4G8B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WJ4G8B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WJ542B Familial melanoma QC61.Y Orphanet 618 TPD-WJ7YFJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WJ7YFJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WJDOZG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WJG4XA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WJG4XA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WJG4XA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WJI9XF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WJI9XF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WJI9XF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WJIM6M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WJJ6J0 Noonan syndrome LD2F.15 Orphanet 648 TPD-WJJ6J0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WJJ6J0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WJJ6J0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WJJ6J0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WJJ6J0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WJJ6J0 Lynch syndrome 2B90.Y Orphanet 144 TPD-WJJ6J0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WJJ6J0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WJJ86Y Kennedy disease 8B61.4 Orphanet 481 TPD-WJJ86Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WJJ86Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WJJ86Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WJOLCT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WJUSCM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WJY6M2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WJZ2EO Noonan syndrome LD2F.15 Orphanet 648 TPD-WJZ2EO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WJZ2EO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WJZ2EO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WJZ2EO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WJZ2EO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WJZ2EO Lynch syndrome 2B90.Y Orphanet 144 TPD-WJZ2EO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WJZ2EO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WK1R7N Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-WK1R7N Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-WK5SOF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WKBATG Noonan syndrome LD2F.15 Orphanet 648 TPD-WKBATG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WKBATG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WKBATG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WKBATG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WKBATG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WKBATG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WKBATG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WKBATG Craniopharyngioma 2F9A Orphanet 54595 TPD-WKBATG Cushing disease 5A70.0 Orphanet 96253 TPD-WKGIC2 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WKLPFR Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WKLRWY Familial melanoma QC61.Y Orphanet 618 TPD-WKLRWY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WKM9JE Noonan syndrome LD2F.15 Orphanet 648 TPD-WKM9JE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WKM9JE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WKM9JE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WKM9JE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WKM9JE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WKM9JE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WKM9JE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WKM9JE Craniopharyngioma 2F9A Orphanet 54595 TPD-WKM9JE Cushing disease 5A70.0 Orphanet 96253 TPD-WKOJAL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WKOJAL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WKOJAL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WKOJAL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WKTA9Z Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-WKW6RY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WKWA6K Noonan syndrome LD2F.15 Orphanet 648 TPD-WKWA6K Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-WKZR6S Noonan syndrome LD2F.15 Orphanet 648 TPD-WKZR6S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WKZR6S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WKZR6S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WKZR6S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WKZR6S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WKZR6S Lynch syndrome 2B90.Y Orphanet 144 TPD-WKZR6S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WKZR6S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WL030A Kennedy disease 8B61.4 Orphanet 481 TPD-WL030A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WL030A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WL030A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WL36AJ Noonan syndrome LD2F.15 Orphanet 648 TPD-WL36AJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WL36AJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WL36AJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WL36AJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WL36AJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WL36AJ Lynch syndrome 2B90.Y Orphanet 144 TPD-WL36AJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WL36AJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WL5YPK Kennedy disease 8B61.4 Orphanet 481 TPD-WL5YPK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WL5YPK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WL5YPK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WL6WAI Noonan syndrome LD2F.15 Orphanet 648 TPD-WL6WAI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WL6WAI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WL6WAI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WL6WAI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WL6WAI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WL6WAI Lynch syndrome 2B90.Y Orphanet 144 TPD-WL6WAI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WL6WAI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WLBS6X CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WLCDQA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WLF6XK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WLIJJ7 Noonan syndrome LD2F.15 Orphanet 648 TPD-WLIJJ7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WLIJJ7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WLIJJ7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WLIJJ7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WLIJJ7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WLIJJ7 Lynch syndrome 2B90.Y Orphanet 144 TPD-WLIJJ7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WLIJJ7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WLJSRY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WLLJ02 Familial melanoma QC61.Y Orphanet 618 TPD-WLLJ02 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WLM3I0 Noonan syndrome LD2F.15 Orphanet 648 TPD-WLM3I0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WLM3I0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WLM3I0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WLM3I0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WLM3I0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WLM3I0 Lynch syndrome 2B90.Y Orphanet 144 TPD-WLM3I0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WLM3I0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WLMEGK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WLMI1K Noonan syndrome LD2F.15 Orphanet 648 TPD-WLMI1K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WLMI1K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WLMI1K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WLMI1K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WLMI1K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WLMI1K Lynch syndrome 2B90.Y Orphanet 144 TPD-WLMI1K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WLMI1K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WLMV7S Kennedy disease 8B61.4 Orphanet 481 TPD-WLMV7S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WLMV7S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WLMV7S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WLMWFV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WLMWFV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WLMWFV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WLMWFV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WLOKAI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WLOKAI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WLOKAI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WLOKAI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WLSVMS Kennedy disease 8B61.4 Orphanet 481 TPD-WLSVMS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WLSVMS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WLSVMS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WLTIKY Kennedy disease 8B61.4 Orphanet 481 TPD-WLTIKY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WLTIKY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WLTIKY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WLVPKN Kennedy disease 8B61.4 Orphanet 481 TPD-WLVPKN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WLVPKN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WLVPKN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WLX8SA Kennedy disease 8B61.4 Orphanet 481 TPD-WLX8SA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WLX8SA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WLX8SA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WLXY0Y Noonan syndrome LD2F.15 Orphanet 648 TPD-WLXY0Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WLXY0Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WLXY0Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WLXY0Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WLXY0Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WLXY0Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WLXY0Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WLXY0Y Craniopharyngioma 2F9A Orphanet 54595 TPD-WLXY0Y Cushing disease 5A70.0 Orphanet 96253 TPD-WLY8HA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WLY8HA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WM0LKC Kennedy disease 8B61.4 Orphanet 481 TPD-WM0LKC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WM0LKC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WM0LKC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WM51HH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WM51HH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WM6QGA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WM6S6J Familial melanoma QC61.Y Orphanet 618 TPD-WM6S6J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WM7KP3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WM7KP3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WM7QM8 Noonan syndrome LD2F.15 Orphanet 648 TPD-WM7QM8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WM7QM8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WM7QM8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WM7QM8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WM7QM8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WM7QM8 Lynch syndrome 2B90.Y Orphanet 144 TPD-WM7QM8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WM7QM8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WM8UQI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-WM9GAT Familial melanoma QC61.Y Orphanet 618 TPD-WM9GAT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WM9IN6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WMEAEV Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WMEGS1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WMEGS1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WMFGN6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WMFGN6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WMFGN6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WMFGN6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WMFR5Z Kennedy disease 8B61.4 Orphanet 481 TPD-WMFR5Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WMFR5Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WMFR5Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WMIOYX Familial melanoma QC61.Y Orphanet 618 TPD-WMIOYX Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WMLR43 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WMM0F2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WMM0F2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WMN0Q9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WMN0Q9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WMN0Q9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WMNTPN Familial melanoma QC61.Y Orphanet 618 TPD-WMNTPN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WMO5NG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WMOFRW Noonan syndrome LD2F.15 Orphanet 648 TPD-WMOFRW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WMOFRW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WMOFRW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WMOFRW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WMOFRW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WMOFRW Lynch syndrome 2B90.Y Orphanet 144 TPD-WMOFRW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WMOFRW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WMT23J Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WMT23J Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WMT28W Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WMT28W Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WMULL3 Kennedy disease 8B61.4 Orphanet 481 TPD-WMULL3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WMULL3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WMULL3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WMYR2W Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WMYR2W Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WMYR2W Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WMZCFH Kennedy disease 8B61.4 Orphanet 481 TPD-WMZCFH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WMZCFH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WMZCFH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WN466Y Noonan syndrome LD2F.15 Orphanet 648 TPD-WN466Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WN466Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WN466Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WN466Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WN466Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WN466Y Lynch syndrome 2B90.Y Orphanet 144 TPD-WN466Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WN466Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WN5DFL Familial melanoma QC61.Y Orphanet 618 TPD-WN5DFL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WN5OX3 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-WN5OX3 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-WN5OX3 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WN8CII Achondroplasia LD24.00 Orphanet 15 TPD-WN8CII Hypochondroplasia LD24.01 Orphanet 429 TPD-WN8CII Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-WN8CII Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-WN8CII Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-WN8CII Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WN8CII Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WN8CII Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-WN8CII Muenke syndrome LD24.GY Orphanet 53271 TPD-WN8CII Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-WN8CII Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-WN8CII Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-WN9CYT Kennedy disease 8B61.4 Orphanet 481 TPD-WN9CYT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WN9CYT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WN9CYT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WNDWST Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WNG6TV Kennedy disease 8B61.4 Orphanet 481 TPD-WNG6TV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WNG6TV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WNG6TV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WNINYV Noonan syndrome LD2F.15 Orphanet 648 TPD-WNINYV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WNINYV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WNINYV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WNINYV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WNINYV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WNINYV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WNINYV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WNINYV Craniopharyngioma 2F9A Orphanet 54595 TPD-WNINYV Cushing disease 5A70.0 Orphanet 96253 TPD-WNK8DD Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WNM7KF Familial melanoma QC61.Y Orphanet 618 TPD-WNM7KF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WNN83S Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WNO69G Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-WNT88M Kennedy disease 8B61.4 Orphanet 481 TPD-WNT88M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WNT88M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WNT88M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WNUR1Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WNUR1Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WNUR1Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WNXYU3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WNXYU3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WNXYU3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WO1FJC Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-WO1FJC Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-WO29BV Noonan syndrome LD2F.15 Orphanet 648 TPD-WO29BV Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WO29BV Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WO29BV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WO29BV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WO29BV Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WO29BV Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WO29BV Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WO29BV Craniopharyngioma 2F9A Orphanet 54595 TPD-WO29BV Cushing disease 5A70.0 Orphanet 96253 TPD-WO2P9J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WO2P9J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WO2P9J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WO8VK4 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-WO9SKI Kennedy disease 8B61.4 Orphanet 481 TPD-WO9SKI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WO9SKI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WO9SKI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WO9WVD Kennedy disease 8B61.4 Orphanet 481 TPD-WO9WVD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WO9WVD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WO9WVD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WOFJQJ Kennedy disease 8B61.4 Orphanet 481 TPD-WOFJQJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WOFJQJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WOFJQJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WOIEBU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WOIEBU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WOIEBU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WOIEBU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WOIW1B Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WOIW1B Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WOIW1B Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WOIW1B Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WOIW1B Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WOIW1B Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WOIW1B Semantic dementia 6D83 Orphanet 100069 TPD-WOIW1B Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WOKDJ1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WOKDJ1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WOPOYE Familial melanoma QC61.Y Orphanet 618 TPD-WOPOYE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WOR9YW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WOR9YW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WOR9YW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WOWXB6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WOWXB6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WOWXB6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WP0GS2 Familial melanoma QC61.Y Orphanet 618 TPD-WP0GS2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WP1OHT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WP4YUR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WP4YUR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WP4YUR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WPC6JZ Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-WPCX9F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WPCX9F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WPDVXI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WPDVXI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WPDVXI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WPEKJO Kennedy disease 8B61.4 Orphanet 481 TPD-WPEKJO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WPEKJO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WPEKJO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WPGRFO Kennedy disease 8B61.4 Orphanet 481 TPD-WPGRFO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WPGRFO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WPGRFO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WPHP19 Familial melanoma QC61.Y Orphanet 618 TPD-WPHP19 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WPKC3B Kennedy disease 8B61.4 Orphanet 481 TPD-WPKC3B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WPKC3B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WPKC3B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WPMMAJ Noonan syndrome LD2F.15 Orphanet 648 TPD-WPMMAJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WPMMAJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WPMMAJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WPMMAJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WPMMAJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WPMMAJ Lynch syndrome 2B90.Y Orphanet 144 TPD-WPMMAJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WPMMAJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WPNIOX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WPNIOX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WPNIOX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WPNIOX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WPNWGI Noonan syndrome LD2F.15 Orphanet 648 TPD-WPNWGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WPNWGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WPNWGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WPNWGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WPNWGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WPNWGI Lynch syndrome 2B90.Y Orphanet 144 TPD-WPNWGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WPNWGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WPO527 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WPO527 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-WPOT5U Noonan syndrome LD2F.15 Orphanet 648 TPD-WPOT5U Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WPOT5U Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WPOT5U Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WPOT5U Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WPOT5U Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WPOT5U Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WPOT5U Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WPOT5U Craniopharyngioma 2F9A Orphanet 54595 TPD-WPOT5U Cushing disease 5A70.0 Orphanet 96253 TPD-WPU4BR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WPU4BR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WPUL0S Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WPV1LT Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WPV1LT Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-WPVVWX Noonan syndrome LD2F.15 Orphanet 648 TPD-WPVVWX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WPVVWX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WPVVWX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WPVVWX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WPVVWX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WPVVWX Lynch syndrome 2B90.Y Orphanet 144 TPD-WPVVWX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WPVVWX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WQ1CR8 Familial melanoma QC61.Y Orphanet 618 TPD-WQ1CR8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WQ1SFI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WQ1SFI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WQ1SFI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WQ7NNG Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WQ99V4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WQ99V4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WQ99V4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WQ99V4 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WQ9PKA Familial melanoma QC61.Y Orphanet 618 TPD-WQ9PKA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WQBNFQ Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-WQBNFQ Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-WQBNFQ Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-WQCQPD Kennedy disease 8B61.4 Orphanet 481 TPD-WQCQPD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WQCQPD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WQCQPD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WQCYQN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WQCYQN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WQCYQN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WQCYQN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WQEG5F Kennedy disease 8B61.4 Orphanet 481 TPD-WQEG5F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WQEG5F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WQEG5F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WQF3VL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WQF3VL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WQF3VL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WQF3VL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WQGHUF Kennedy disease 8B61.4 Orphanet 481 TPD-WQGHUF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WQGHUF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WQGHUF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WQGS3J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WQGS3J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WQGS3J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WQKTZL Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WQKTZL Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WQKTZL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WQKTZL B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WQON8E Kennedy disease 8B61.4 Orphanet 481 TPD-WQON8E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WQON8E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WQON8E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WQRX9B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WQRX9B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WQRX9B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WQSRZM Noonan syndrome LD2F.15 Orphanet 648 TPD-WQSRZM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WQSRZM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WQSRZM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WQSRZM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WQSRZM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WQSRZM Lynch syndrome 2B90.Y Orphanet 144 TPD-WQSRZM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WQSRZM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WQUET0 Kennedy disease 8B61.4 Orphanet 481 TPD-WQUET0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WQUET0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WQUET0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WR4JYM Weaver syndrome LD2C Orphanet 3447 TPD-WR7D5K Kennedy disease 8B61.4 Orphanet 481 TPD-WR7D5K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WR7D5K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WR7D5K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WR7NDP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WR7NDP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-WR9VK4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WRBWQX Noonan syndrome LD2F.15 Orphanet 648 TPD-WRBWQX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WRBWQX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WRBWQX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WRBWQX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WRBWQX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WRBWQX Lynch syndrome 2B90.Y Orphanet 144 TPD-WRBWQX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WRBWQX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WRC40R Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WRC40R Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WRC40R B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WRC40R B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WREUO1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WREUO1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WREUO1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WRITSA Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WRITSA Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WRITSA Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WRITSA Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WRITSA Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WRITSA Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WRITSA Semantic dementia 6D83 Orphanet 100069 TPD-WRITSA Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WRK41H Kennedy disease 8B61.4 Orphanet 481 TPD-WRK41H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WRK41H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WRK41H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WRL5Q1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WROKPE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WROKPE Neuroblastoma 2A00.11 Orphanet 635 TPD-WROKPE Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-WROKPE ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-WROKPE ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-WRR0LP Noonan syndrome LD2F.15 Orphanet 648 TPD-WRR0LP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WRR0LP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WRR0LP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WRR0LP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WRR0LP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WRR0LP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WRR0LP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WRR0LP Craniopharyngioma 2F9A Orphanet 54595 TPD-WRR0LP Cushing disease 5A70.0 Orphanet 96253 TPD-WRS8VZ Weaver syndrome LD2C Orphanet 3447 TPD-WRSK3W Kennedy disease 8B61.4 Orphanet 481 TPD-WRSK3W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WRSK3W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WRSK3W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WRT50J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WRT50J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WRT50J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WRT50J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WRUCI3 Noonan syndrome LD2F.15 Orphanet 648 TPD-WRUCI3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WRUCI3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WRUCI3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WRUCI3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WRUCI3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WRUCI3 Lynch syndrome 2B90.Y Orphanet 144 TPD-WRUCI3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WRUCI3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WRUT4H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WRUT4H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WRVXQ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-WRVXQ9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WRVXQ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WRVXQ9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WRVXQ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WRVXQ9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WRVXQ9 Lynch syndrome 2B90.Y Orphanet 144 TPD-WRVXQ9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WRVXQ9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WRX3RW Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-WS28R0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WS28R0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WS28R0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WS28R0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WS5DFR Kennedy disease 8B61.4 Orphanet 481 TPD-WS5DFR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WS5DFR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WS5DFR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WS5XOD Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WS5XOD Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WS7Z8D Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WS9P5Y Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WS9P5Y Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WS9P5Y Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WSBDBV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WSBDBV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WSBDBV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WSBDBV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WSC2XB Kennedy disease 8B61.4 Orphanet 481 TPD-WSC2XB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WSC2XB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WSC2XB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WSEEC6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WSEEC6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WSEEC6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WSFGY8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WSFYH1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WSFYH1 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WSFYH1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WSI4AA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WSIS32 Kennedy disease 8B61.4 Orphanet 481 TPD-WSIS32 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WSIS32 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WSIS32 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WSJUEC Familial melanoma QC61.Y Orphanet 618 TPD-WSJUEC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WSKGYX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WSKGYX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WSKGYX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WSKXNR Noonan syndrome LD2F.15 Orphanet 648 TPD-WSKXNR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WSKXNR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WSKXNR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WSKXNR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WSKXNR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WSKXNR Lynch syndrome 2B90.Y Orphanet 144 TPD-WSKXNR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WSKXNR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WSNYYW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WSNYYW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WSNYYW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WSP8PA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WSW8DY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WSW8DY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WSW8DY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WSW8DY Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WSW8DY Neuroblastoma 2A00.11 Orphanet 635 TPD-WSW8DY Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-WSW8DY ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-WSW8DY ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-WSW8DY Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-WSZP3F Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WT0BB7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WT0BB7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WT0BB7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WT4YZT Kennedy disease 8B61.4 Orphanet 481 TPD-WT4YZT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WT4YZT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WT4YZT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WT5HGI Noonan syndrome LD2F.15 Orphanet 648 TPD-WT5HGI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WT5HGI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WT5HGI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WT5HGI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WT5HGI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WT5HGI Lynch syndrome 2B90.Y Orphanet 144 TPD-WT5HGI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WT5HGI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WT5ZK1 Kennedy disease 8B61.4 Orphanet 481 TPD-WT5ZK1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WT5ZK1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WT5ZK1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WT8T4F Noonan syndrome LD2F.15 Orphanet 648 TPD-WT8T4F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WT8T4F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WT8T4F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WT8T4F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WT8T4F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WT8T4F Lynch syndrome 2B90.Y Orphanet 144 TPD-WT8T4F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WT8T4F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WTBIRT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WTBIRT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WTEDA8 Noonan syndrome LD2F.15 Orphanet 648 TPD-WTEDA8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WTEDA8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WTEDA8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WTEDA8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WTEDA8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WTEDA8 Lynch syndrome 2B90.Y Orphanet 144 TPD-WTEDA8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WTEDA8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WTEDJY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WTIQP0 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WTIQP0 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WTIQP0 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WTIQP0 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WTIQP0 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WTIQP0 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WTIQP0 Semantic dementia 6D83 Orphanet 100069 TPD-WTIQP0 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WTJ0WA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WTJ0WA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WTJ0WA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WTJFUK Kennedy disease 8B61.4 Orphanet 481 TPD-WTJFUK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WTJFUK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WTJFUK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WTK3OJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WTO9XA Noonan syndrome LD2F.15 Orphanet 648 TPD-WTO9XA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WTO9XA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WTO9XA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WTO9XA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WTO9XA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WTO9XA Lynch syndrome 2B90.Y Orphanet 144 TPD-WTO9XA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WTO9XA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WTR0CK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WTR0CK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WTR0CK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WTR0CK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WTR0CK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WTR0CK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WTR0CK Semantic dementia 6D83 Orphanet 100069 TPD-WTR0CK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WTR4K4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WTUHAH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WTX0AH Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-WTX0AH Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-WTX6SY Noonan syndrome LD2F.15 Orphanet 648 TPD-WTX6SY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WTX6SY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WTX6SY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WTX6SY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WTX6SY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WTX6SY Lynch syndrome 2B90.Y Orphanet 144 TPD-WTX6SY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WTX6SY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WTX7V4 Noonan syndrome LD2F.15 Orphanet 648 TPD-WTX7V4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WTX7V4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WTX7V4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WTX7V4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WTX7V4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WTX7V4 Lynch syndrome 2B90.Y Orphanet 144 TPD-WTX7V4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WTX7V4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WTXIJP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WTXIJP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WTXIJP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WU2I8A Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-WU3IOF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WU3IOF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WU3N5Y Familial melanoma QC61.Y Orphanet 618 TPD-WU3N5Y Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WU45KJ Kennedy disease 8B61.4 Orphanet 481 TPD-WU45KJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WU45KJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WU45KJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WUDVUO Kennedy disease 8B61.4 Orphanet 481 TPD-WUDVUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WUDVUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WUDVUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WUDZNY Kennedy disease 8B61.4 Orphanet 481 TPD-WUDZNY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WUDZNY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WUDZNY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WUE78M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WUP51O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WUP51O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WUP51O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WUTW8J Kennedy disease 8B61.4 Orphanet 481 TPD-WUTW8J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WUTW8J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WUTW8J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WUVE2S Familial melanoma QC61.Y Orphanet 618 TPD-WUW2CA Noonan syndrome LD2F.15 Orphanet 648 TPD-WUW2CA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WUW2CA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WUW2CA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WUW2CA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WUW2CA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WUW2CA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WUW2CA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WUW2CA Craniopharyngioma 2F9A Orphanet 54595 TPD-WUW2CA Cushing disease 5A70.0 Orphanet 96253 TPD-WV240E Cystic fibrosis CA25 Orphanet 586 TPD-WV240E Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-WV2I9T Noonan syndrome LD2F.15 Orphanet 648 TPD-WV2I9T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WV2I9T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WV2I9T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WV2I9T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WV2I9T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WV2I9T Lynch syndrome 2B90.Y Orphanet 144 TPD-WV2I9T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WV2I9T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WV2NFJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WV2NFJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WV2NFJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WV357G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WV357G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WV357G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WV6CJG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WV6CJG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WV6CJG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WVCPRI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WVCPRI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WVCPRI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WVCPRI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WVDAGX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WVDAGX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-WVFOVM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WVFOVM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WVFOVM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WVFTJ7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WVFTJ7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WVOCNW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WVOCNW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WVOCNW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WVOY8Z Kennedy disease 8B61.4 Orphanet 481 TPD-WVOY8Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WVOY8Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WVOY8Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WVOYRC Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WVOYRC Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WVOYRC B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WVOYRC B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WVQ3WO Kennedy disease 8B61.4 Orphanet 481 TPD-WVQ3WO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WVQ3WO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WVQ3WO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WVSYQF Noonan syndrome LD2F.15 Orphanet 648 TPD-WVSYQF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WVSYQF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WVSYQF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WVSYQF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WVSYQF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WVSYQF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WVSYQF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WVSYQF Craniopharyngioma 2F9A Orphanet 54595 TPD-WVSYQF Cushing disease 5A70.0 Orphanet 96253 TPD-WVVYQ4 Familial melanoma QC61.Y Orphanet 618 TPD-WVVYQ4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WVYMT2 Noonan syndrome LD2F.15 Orphanet 648 TPD-WVYMT2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WVYMT2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WVYMT2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WVYMT2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WVYMT2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WVYMT2 Lynch syndrome 2B90.Y Orphanet 144 TPD-WVYMT2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WVYMT2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WVYPVE Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-WW2DM5 Noonan syndrome LD2F.15 Orphanet 648 TPD-WW2DM5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WW2DM5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WW2DM5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WW2DM5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WW2DM5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WW2DM5 Lynch syndrome 2B90.Y Orphanet 144 TPD-WW2DM5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WW2DM5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WW59AG Kennedy disease 8B61.4 Orphanet 481 TPD-WW59AG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WW59AG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WW59AG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WW5NOK Kennedy disease 8B61.4 Orphanet 481 TPD-WW5NOK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WW5NOK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WW5NOK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WWD2AY Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-WWGP7Z Noonan syndrome LD2F.15 Orphanet 648 TPD-WWGP7Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WWGP7Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WWGP7Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WWGP7Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WWGP7Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WWGP7Z Lynch syndrome 2B90.Y Orphanet 144 TPD-WWGP7Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WWGP7Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WWHBR1 Kennedy disease 8B61.4 Orphanet 481 TPD-WWHBR1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WWHBR1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WWHBR1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WWI61E Noonan syndrome LD2F.15 Orphanet 648 TPD-WWI61E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WWI61E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WWI61E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WWI61E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WWI61E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WWI61E Lynch syndrome 2B90.Y Orphanet 144 TPD-WWI61E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WWI61E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WWK1O4 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-WWK1O4 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-WWK1O4 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-WWK6TZ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WWKROG Kennedy disease 8B61.4 Orphanet 481 TPD-WWKROG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WWKROG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WWKROG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WWL4KM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-WWLSI9 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-WWLSI9 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-WWQBSC Kennedy disease 8B61.4 Orphanet 481 TPD-WWQBSC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WWQBSC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WWQBSC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WWT8U0 Kennedy disease 8B61.4 Orphanet 481 TPD-WWT8U0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WWT8U0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WWT8U0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WWWAVC Kennedy disease 8B61.4 Orphanet 481 TPD-WWWAVC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WWWAVC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WWWAVC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WX1LNB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-WX1LNB Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-WX1LNB Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-WX1LNB Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-WX1LNB Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-WX1LNB Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-WX1LNB Semantic dementia 6D83 Orphanet 100069 TPD-WX1LNB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-WX2B81 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WX2B81 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WX2QNI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WX8KAQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WX9QZJ Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-WX9QZJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-WX9QZJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-WX9QZJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-WX9QZJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-WX9QZJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-WX9QZJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WX9QZJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-WX9QZJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-WXERTH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WXERTH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WXERTH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WXF0WR Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WXF0WR Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WXF0WR Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WXFTM3 Kennedy disease 8B61.4 Orphanet 481 TPD-WXFTM3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WXFTM3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WXFTM3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WXHM88 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WXHM88 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WXLE5K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WXLE5K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WXLE5K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WXM1KK Kennedy disease 8B61.4 Orphanet 481 TPD-WXM1KK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WXM1KK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WXM1KK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WXT05P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WXT05P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WXU7I1 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-WXU7I1 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-WXU7I1 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-WXUZC4 Kennedy disease 8B61.4 Orphanet 481 TPD-WXUZC4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WXUZC4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WXUZC4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WXV6E4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WXVN72 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WXVN72 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WXVN72 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WXZBA2 Kennedy disease 8B61.4 Orphanet 481 TPD-WXZBA2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WXZBA2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WXZBA2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WY4ELP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WY4RHV Burkitt lymphoma XH4KA9 Orphanet 543 TPD-WY4RHV Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-WY547H Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 5C51.3 Orphanet 284426 TPD-WYFN72 Kennedy disease 8B61.4 Orphanet 481 TPD-WYFN72 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WYFN72 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WYFN72 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WYGSOU Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-WYGSOU Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-WYGSOU Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-WYHO5D Familial melanoma QC61.Y Orphanet 618 TPD-WYHO5D Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WYLF7C Noonan syndrome LD2F.15 Orphanet 648 TPD-WYLF7C Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-WYLF7C Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-WYLF7C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WYLF7C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WYLF7C Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-WYLF7C Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-WYLF7C Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-WYLF7C Craniopharyngioma 2F9A Orphanet 54595 TPD-WYLF7C Cushing disease 5A70.0 Orphanet 96253 TPD-WYMNZH Burkitt lymphoma XH4KA9 Orphanet 543 TPD-WYMNZH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-WYMNZH Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-WYNU2V Familial melanoma QC61.Y Orphanet 618 TPD-WYNU2V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WYPVV8 Noonan syndrome LD2F.15 Orphanet 648 TPD-WYPVV8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WYPVV8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WYPVV8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WYPVV8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WYPVV8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WYPVV8 Lynch syndrome 2B90.Y Orphanet 144 TPD-WYPVV8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WYPVV8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WYQY0R Kennedy disease 8B61.4 Orphanet 481 TPD-WYQY0R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WYQY0R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WYQY0R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WYTV7V Kennedy disease 8B61.4 Orphanet 481 TPD-WYTV7V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WYTV7V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WYTV7V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WYWH6D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WYWH6D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WYWH6D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WYWH6D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WYX3Q5 Noonan syndrome LD2F.15 Orphanet 648 TPD-WYX3Q5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WYX3Q5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WYX3Q5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WYX3Q5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WYX3Q5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WYX3Q5 Lynch syndrome 2B90.Y Orphanet 144 TPD-WYX3Q5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WYX3Q5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WYYCTP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WYYCTP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WYYCTP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WYYCTP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WYYO0T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WYYO0T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WYYO0T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WYYO0T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WYZHP9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WYZHP9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WYZHP9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WZ0N76 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-WZ2ERV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WZ3M0O Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WZ3M0O Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WZ3M0O Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WZ3M0O Hirschsprung disease LB16.1 Orphanet 388 TPD-WZ3M0O Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-WZ3M0O Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-WZ3U6A Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WZ4BYH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WZ4BYH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WZ4BYH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WZ602Z Noonan syndrome LD2F.15 Orphanet 648 TPD-WZ602Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WZ602Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WZ602Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WZ602Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WZ602Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WZ602Z Lynch syndrome 2B90.Y Orphanet 144 TPD-WZ602Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WZ602Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WZ6JLE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-WZ9DRS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WZ9DRS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WZ9DRS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WZCX5M Familial melanoma QC61.Y Orphanet 618 TPD-WZCX5M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WZEN1T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-WZEN1T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-WZEN1T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-WZEN1T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-WZH3A6 Noonan syndrome LD2F.15 Orphanet 648 TPD-WZH3A6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WZH3A6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WZH3A6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WZH3A6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WZH3A6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WZH3A6 Lynch syndrome 2B90.Y Orphanet 144 TPD-WZH3A6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WZH3A6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WZJU63 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-WZJU63 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-WZJU63 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-WZLAVW Noonan syndrome LD2F.15 Orphanet 648 TPD-WZLAVW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WZLAVW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WZLAVW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WZLAVW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WZLAVW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WZLAVW Lynch syndrome 2B90.Y Orphanet 144 TPD-WZLAVW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WZLAVW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WZLDH9 Familial melanoma QC61.Y Orphanet 618 TPD-WZLDH9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WZM5CJ Noonan syndrome LD2F.15 Orphanet 648 TPD-WZM5CJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WZM5CJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WZM5CJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WZM5CJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WZM5CJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WZM5CJ Lynch syndrome 2B90.Y Orphanet 144 TPD-WZM5CJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WZM5CJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WZSGH6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-WZSGH6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-WZSGH6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-WZW35U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-WZW35U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-WZX6NS Kennedy disease 8B61.4 Orphanet 481 TPD-WZX6NS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WZX6NS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WZX6NS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-WZZLEA Noonan syndrome LD2F.15 Orphanet 648 TPD-WZZLEA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-WZZLEA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-WZZLEA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-WZZLEA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-WZZLEA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-WZZLEA Lynch syndrome 2B90.Y Orphanet 144 TPD-WZZLEA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-WZZLEA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-WZZLL7 Kennedy disease 8B61.4 Orphanet 481 TPD-WZZLL7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-WZZLL7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-WZZLL7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X03VLM Familial melanoma QC61.Y Orphanet 618 TPD-X03VLM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X04ABW Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X04L2K Familial melanoma QC61.Y Orphanet 618 TPD-X04L2K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X0603H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X0603H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X07FQN Kennedy disease 8B61.4 Orphanet 481 TPD-X07FQN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X07FQN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X07FQN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X09P6O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X09P6O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X0AXX0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X0AXX0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X0AXX0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X0AXX0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X0AXX0 Duane retraction syndrome 9C82.2 Orphanet 233 TPD-X0AXX0 Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-X0AXX0 Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-X0AXX0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X0AXX0 Aromatase excess syndrome 5A92 Orphanet 178345 TPD-X0AXX0 Aromatase deficiency 5A9Y Orphanet 91 TPD-X0EIM0 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X0EIM0 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X0EIM0 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X0EIM0 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X0FR90 Kennedy disease 8B61.4 Orphanet 481 TPD-X0FR90 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X0FR90 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X0FR90 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X0GEZ4 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-X0GEZ4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X0HM62 Noonan syndrome LD2F.15 Orphanet 648 TPD-X0HM62 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X0HM62 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X0HM62 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X0HM62 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X0HM62 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X0HM62 Lynch syndrome 2B90.Y Orphanet 144 TPD-X0HM62 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X0HM62 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X0IPN1 Familial melanoma QC61.Y Orphanet 618 TPD-X0P7GE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X0P7GE Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X0PWQP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X0PWQP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X0PWQP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X0PWQP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X0SHKQ Noonan syndrome LD2F.15 Orphanet 648 TPD-X0SHKQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X0SHKQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X0SHKQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X0SHKQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X0SHKQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X0SHKQ Lynch syndrome 2B90.Y Orphanet 144 TPD-X0SHKQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X0SHKQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X0SHUH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X0SHUH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X0UBK6 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X0UBK6 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-X0UBK6 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X0UH6U X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X0UH6U Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X0UHQZ Noonan syndrome LD2F.15 Orphanet 648 TPD-X0UHQZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X0UHQZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X0UHQZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X0UHQZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X0UHQZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X0UHQZ Lynch syndrome 2B90.Y Orphanet 144 TPD-X0UHQZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X0UHQZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X0UQKE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X0W368 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X0XT4E Noonan syndrome LD2F.15 Orphanet 648 TPD-X0XT4E Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X0XT4E Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-X0XT4E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X0XT4E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X0XT4E Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-X0XT4E Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-X0XT4E Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-X0XT4E Craniopharyngioma 2F9A Orphanet 54595 TPD-X0XT4E Cushing disease 5A70.0 Orphanet 96253 TPD-X10J2Z Kennedy disease 8B61.4 Orphanet 481 TPD-X10J2Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X10J2Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X10J2Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X13RAG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X18S72 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X1E41H Kennedy disease 8B61.4 Orphanet 481 TPD-X1E41H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X1E41H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X1E41H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X1I2V6 Familial melanoma QC61.Y Orphanet 618 TPD-X1I2V6 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X1Q2TF Noonan syndrome LD2F.15 Orphanet 648 TPD-X1Q2TF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X1Q2TF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X1Q2TF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X1Q2TF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X1Q2TF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X1Q2TF Lynch syndrome 2B90.Y Orphanet 144 TPD-X1Q2TF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X1Q2TF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X1RMAK Noonan syndrome LD2F.15 Orphanet 648 TPD-X1RMAK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X1RMAK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-X1RMAK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X1RMAK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X1RMAK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-X1RMAK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-X1RMAK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-X1RMAK Craniopharyngioma 2F9A Orphanet 54595 TPD-X1RMAK Cushing disease 5A70.0 Orphanet 96253 TPD-X1TE2F Noonan syndrome LD2F.15 Orphanet 648 TPD-X1TE2F Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X1TE2F Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X1TE2F Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X1TE2F Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X1TE2F Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X1TE2F Lynch syndrome 2B90.Y Orphanet 144 TPD-X1TE2F Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X1TE2F Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X1TLHO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-X1TLHO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-X1U5GP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X1U5GP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X1VR58 Noonan syndrome LD2F.15 Orphanet 648 TPD-X1VR58 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X1VR58 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X1VR58 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X1VR58 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X1VR58 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X1VR58 Lynch syndrome 2B90.Y Orphanet 144 TPD-X1VR58 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X1VR58 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X22ZTU Kennedy disease 8B61.4 Orphanet 481 TPD-X22ZTU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X22ZTU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X22ZTU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X25JDM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X25T17 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X25T17 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X272KJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X272KJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X28CR0 Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-X2DY75 Weaver syndrome LD2C Orphanet 3447 TPD-X2ENH2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X2ENH2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X2ENH2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X2GKHW Noonan syndrome LD2F.15 Orphanet 648 TPD-X2GKHW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X2GKHW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X2GKHW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X2GKHW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X2GKHW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X2GKHW Lynch syndrome 2B90.Y Orphanet 144 TPD-X2GKHW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X2GKHW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X2K31J Burkitt lymphoma XH4KA9 Orphanet 543 TPD-X2K31J Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X2KUG1 Noonan syndrome LD2F.15 Orphanet 648 TPD-X2KUG1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X2KUG1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X2KUG1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X2KUG1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X2KUG1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X2KUG1 Lynch syndrome 2B90.Y Orphanet 144 TPD-X2KUG1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X2KUG1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X2LI2I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X2RO3W Kennedy disease 8B61.4 Orphanet 481 TPD-X2RO3W Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X2RO3W Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X2RO3W Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X2Y0U9 Kennedy disease 8B61.4 Orphanet 481 TPD-X2Y0U9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X2Y0U9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X2Y0U9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X2YA2L Kennedy disease 8B61.4 Orphanet 481 TPD-X2YA2L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X2YA2L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X2YA2L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X338IL Kennedy disease 8B61.4 Orphanet 481 TPD-X338IL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X338IL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X338IL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X34BCR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X34BCR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X34BCR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X34DVP Noonan syndrome LD2F.15 Orphanet 648 TPD-X34DVP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X34DVP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X34DVP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X34DVP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X34DVP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X34DVP Lynch syndrome 2B90.Y Orphanet 144 TPD-X34DVP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X34DVP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X36479 Kennedy disease 8B61.4 Orphanet 481 TPD-X36479 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X36479 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X36479 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X36I33 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X36I33 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X36I33 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X36I33 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X375XP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X3DCAA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X3DCAA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X3E33C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X3E7IA Kennedy disease 8B61.4 Orphanet 481 TPD-X3E7IA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X3E7IA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X3E7IA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X3F1OW Kennedy disease 8B61.4 Orphanet 481 TPD-X3F1OW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X3F1OW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X3F1OW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X3FAZV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X3FAZV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X3FAZV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X3IH1M Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-X3M1X5 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-X3M1X5 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-X3PG6U Noonan syndrome LD2F.15 Orphanet 648 TPD-X3PG6U Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-X3RDJF Familial melanoma QC61.Y Orphanet 618 TPD-X3RDJF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X3SAOO Familial melanoma QC61.Y Orphanet 618 TPD-X3SAOO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X3SPS3 X-linked lymphoproliferative disease due to XIAP deficiency 4A01.22 Orphanet 538934 TPD-X3W6DB Kennedy disease 8B61.4 Orphanet 481 TPD-X3W6DB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X3W6DB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X3W6DB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X40B8P Kennedy disease 8B61.4 Orphanet 481 TPD-X40B8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X40B8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X40B8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X4175A Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X42FJ5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X45BOH Noonan syndrome LD2F.15 Orphanet 648 TPD-X45BOH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X45BOH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X45BOH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X45BOH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X45BOH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X45BOH Lynch syndrome 2B90.Y Orphanet 144 TPD-X45BOH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X45BOH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X49LMR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-X4E0WD Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X4E0WD Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X4E0WD Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X4E0WD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X4E0WD Neuroblastoma 2A00.11 Orphanet 635 TPD-X4E0WD Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-X4E0WD ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-X4E0WD ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-X4E0WD Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-X4E9UE Kennedy disease 8B61.4 Orphanet 481 TPD-X4E9UE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X4E9UE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X4E9UE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X4EOKX Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-X4EOKX Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-X4EOKX Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-X4EOKX Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-X4EOKX Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-X4EOKX Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-X4EOKX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X4EOKX Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-X4EOKX Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X4IANI Noonan syndrome LD2F.15 Orphanet 648 TPD-X4IANI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X4IANI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-X4IANI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X4IANI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X4IANI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-X4IANI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-X4IANI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-X4IANI Craniopharyngioma 2F9A Orphanet 54595 TPD-X4IANI Cushing disease 5A70.0 Orphanet 96253 TPD-X4M41D Kennedy disease 8B61.4 Orphanet 481 TPD-X4M41D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X4M41D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X4M41D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X4MHIS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X4OAQT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-X4OAQT Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-X4OAQT Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-X4OAQT Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-X4OAQT Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-X4OAQT Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-X4OAQT Semantic dementia 6D83 Orphanet 100069 TPD-X4OAQT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-X4P0Q5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X4PFYG CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-X4PKKR Familial melanoma QC61.Y Orphanet 618 TPD-X4PKKR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X4QVD1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X4QVD1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X4QVD1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X4QVD1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X4R25N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X4R7D8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X4R7D8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X4S0EF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X4SQR7 Kennedy disease 8B61.4 Orphanet 481 TPD-X4SQR7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X4SQR7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X4SQR7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X4TCT2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-X4U6QP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X4U6QP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X4U6QP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X4U6QP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X4W6I4 Familial melanoma QC61.Y Orphanet 618 TPD-X4W6I4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X4X88E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X4X88E Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-X4X88E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X4XOXT Kennedy disease 8B61.4 Orphanet 481 TPD-X4XOXT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X4XOXT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X4XOXT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X4XXI6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X4YPZI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X4YPZI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X4ZFPU Familial melanoma QC61.Y Orphanet 618 TPD-X4ZFPU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X4ZL6G Kennedy disease 8B61.4 Orphanet 481 TPD-X4ZL6G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X4ZL6G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X4ZL6G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X52H79 Kennedy disease 8B61.4 Orphanet 481 TPD-X52H79 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X52H79 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X52H79 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X55LHP Noonan syndrome LD2F.15 Orphanet 648 TPD-X55LHP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X55LHP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X55LHP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X55LHP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X55LHP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X55LHP Lynch syndrome 2B90.Y Orphanet 144 TPD-X55LHP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X55LHP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X57C4W Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X57C4W Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X57C4W Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X5AEF2 Familial melanoma QC61.Y Orphanet 618 TPD-X5AEF2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X5CBLB Kennedy disease 8B61.4 Orphanet 481 TPD-X5CBLB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X5CBLB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X5CBLB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X5EF4N Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X5EJX1 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X5EJX1 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X5EK56 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X5EK56 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X5EK56 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X5EK56 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X5F1AT Familial melanoma QC61.Y Orphanet 618 TPD-X5F1AT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X5J6VD Noonan syndrome LD2F.15 Orphanet 648 TPD-X5J6VD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X5J6VD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X5J6VD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X5J6VD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X5J6VD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X5J6VD Lynch syndrome 2B90.Y Orphanet 144 TPD-X5J6VD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X5J6VD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X5LLTH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X5MENE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-X5MSQ7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X5NYSM Kennedy disease 8B61.4 Orphanet 481 TPD-X5NYSM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X5NYSM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X5NYSM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X5S20P Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X5T9EK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X5T9EK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X5T9EK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X5VYLQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X5VYLQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X5X7BW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X5X7BW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X5X7BW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X5X7BW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X5XG8F Familial melanoma QC61.Y Orphanet 618 TPD-X5XG8F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X5ZBM3 Hirschsprung disease LB16.1 Orphanet 388 TPD-X5ZBM3 Lethal congenital contracture syndrome type 2 LD26.4Y Orphanet 137776 TPD-X5ZPFX Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X63QHQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X63QHQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X68XVU Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-X69R2J Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X69R2J Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X69R2J B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X69R2J B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X6DB4G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X6DB4G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X6DB4G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X6DB4G B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X6DHE3 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X6EW9S Burkitt lymphoma XH4KA9 Orphanet 543 TPD-X6EW9S Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X6GLXC Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-X6GMY0 Kennedy disease 8B61.4 Orphanet 481 TPD-X6GMY0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X6GMY0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X6GMY0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X6GT52 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X6IP2J Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X6IP2J Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X6IP2J Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X6KQ0N Noonan syndrome LD2F.15 Orphanet 648 TPD-X6KQ0N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X6KQ0N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-X6KQ0N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X6KQ0N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X6KQ0N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-X6KQ0N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-X6KQ0N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-X6KQ0N Craniopharyngioma 2F9A Orphanet 54595 TPD-X6KQ0N Cushing disease 5A70.0 Orphanet 96253 TPD-X6NZ4Z Noonan syndrome LD2F.15 Orphanet 648 TPD-X6NZ4Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X6NZ4Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X6NZ4Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X6NZ4Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X6NZ4Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X6NZ4Z Lynch syndrome 2B90.Y Orphanet 144 TPD-X6NZ4Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X6NZ4Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X6P0FZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X6P0FZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X6P0FZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X6P0FZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X6SI15 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-X6SI15 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-X6UG09 Kennedy disease 8B61.4 Orphanet 481 TPD-X6UG09 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X6UG09 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X6UG09 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X6X66K Noonan syndrome LD2F.15 Orphanet 648 TPD-X6X66K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X6X66K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X6X66K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X6X66K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X6X66K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X6X66K Lynch syndrome 2B90.Y Orphanet 144 TPD-X6X66K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X6X66K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X6YEGE Kennedy disease 8B61.4 Orphanet 481 TPD-X6YEGE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X6YEGE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X6YEGE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X712EU Kennedy disease 8B61.4 Orphanet 481 TPD-X712EU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X712EU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X712EU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X742OQ Noonan syndrome LD2F.15 Orphanet 648 TPD-X742OQ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-X742OQ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-X742OQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X742OQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X742OQ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-X742OQ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-X742OQ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-X742OQ Craniopharyngioma 2F9A Orphanet 54595 TPD-X742OQ Cushing disease 5A70.0 Orphanet 96253 TPD-X74G3T Noonan syndrome LD2F.15 Orphanet 648 TPD-X74G3T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X74G3T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X74G3T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X74G3T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X74G3T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X74G3T Lynch syndrome 2B90.Y Orphanet 144 TPD-X74G3T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X74G3T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X74G3T Isolated Joubert syndrome LD20.00 Orphanet 475 TPD-X74G3T Orofaciodigital syndrome type 6 LD25.00 Orphanet 2754 TPD-X757PQ Noonan syndrome LD2F.15 Orphanet 648 TPD-X757PQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X757PQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X757PQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X757PQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X757PQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X757PQ Lynch syndrome 2B90.Y Orphanet 144 TPD-X757PQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X757PQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X75RQL Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-X764SQ Peters anomaly 9C61.42 Orphanet 708 TPD-X764SQ Congenital glaucoma 9C61.40 Orphanet 98976 TPD-X764SQ Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-X774TC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X774TC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X77DPG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X77DPG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X77DPG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X788FF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X788FF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-X7IR5Q Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X7JF5L Kennedy disease 8B61.4 Orphanet 481 TPD-X7JF5L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X7JF5L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X7JF5L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X7KLXB Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X7KLXB Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X7KLXB Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X7KQLY Kennedy disease 8B61.4 Orphanet 481 TPD-X7KQLY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X7KQLY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X7KQLY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X7LE87 Familial melanoma QC61.Y Orphanet 618 TPD-X7LE87 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X7NG9E Kennedy disease 8B61.4 Orphanet 481 TPD-X7NG9E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X7NG9E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X7NG9E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X7PM89 Familial melanoma QC61.Y Orphanet 618 TPD-X7PM89 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X7QWDP Familial melanoma QC61.Y Orphanet 618 TPD-X7QWDP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X7WQIA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-X7ZBMW Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-X7ZBMW Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-X7ZBMW Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-X7ZBMW Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-X7ZBMW Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-X7ZBMW Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-X7ZBMW Semantic dementia 6D83 Orphanet 100069 TPD-X7ZBMW Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-X7ZMTU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X7ZMTU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X7ZMTU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X81EYU Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-X81EYU Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-X81EYU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X81EYU B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-X85W0C Kennedy disease 8B61.4 Orphanet 481 TPD-X85W0C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X85W0C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X85W0C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X8B04R Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X8B04R Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X8B04R Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X8FS50 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X8G8W8 Noonan syndrome LD2F.15 Orphanet 648 TPD-X8G8W8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X8G8W8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X8G8W8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X8G8W8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X8G8W8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X8G8W8 Lynch syndrome 2B90.Y Orphanet 144 TPD-X8G8W8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X8G8W8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X8IK1E Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X8IK1E Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X8IK1E Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X8J3BU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X8L5S7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X8L5S7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X8L5S7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X8LSW3 Noonan syndrome LD2F.15 Orphanet 648 TPD-X8LSW3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X8LSW3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X8LSW3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X8LSW3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X8LSW3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X8LSW3 Lynch syndrome 2B90.Y Orphanet 144 TPD-X8LSW3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X8LSW3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X8PNVZ Noonan syndrome LD2F.15 Orphanet 648 TPD-X8PNVZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X8PNVZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X8PNVZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X8PNVZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X8PNVZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X8PNVZ Lynch syndrome 2B90.Y Orphanet 144 TPD-X8PNVZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X8PNVZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X8PQCX Kennedy disease 8B61.4 Orphanet 481 TPD-X8PQCX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X8PQCX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X8PQCX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X8SXWZ Kennedy disease 8B61.4 Orphanet 481 TPD-X8SXWZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X8SXWZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X8SXWZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X8TQHK Kennedy disease 8B61.4 Orphanet 481 TPD-X8TQHK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X8TQHK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X8TQHK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X8XJSX Kennedy disease 8B61.4 Orphanet 481 TPD-X8XJSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X8XJSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X8XJSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X8YBBO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X8YBBO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X8YBBO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X8YOB6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X8YOB6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X8YOB6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X923CX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-X92V2L Noonan syndrome LD2F.15 Orphanet 648 TPD-X92V2L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X92V2L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X92V2L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X92V2L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X92V2L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X92V2L Lynch syndrome 2B90.Y Orphanet 144 TPD-X92V2L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X92V2L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X95IIG Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-X95IIG Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-X969JS Noonan syndrome LD2F.15 Orphanet 648 TPD-X969JS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X969JS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X969JS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X969JS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X969JS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X969JS Lynch syndrome 2B90.Y Orphanet 144 TPD-X969JS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X969JS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-X98RYW Familial melanoma QC61.Y Orphanet 618 TPD-X98RYW Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X9BH4S Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-X9CDAI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-X9CDAI Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-X9CDAI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-X9DYUV Kennedy disease 8B61.4 Orphanet 481 TPD-X9DYUV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X9DYUV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X9DYUV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X9G04Z Kennedy disease 8B61.4 Orphanet 481 TPD-X9G04Z Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X9G04Z Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X9G04Z Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X9J9EP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X9J9EP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X9J9EP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X9LZKN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-X9Q2NB Kennedy disease 8B61.4 Orphanet 481 TPD-X9Q2NB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X9Q2NB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X9Q2NB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X9SGD1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-X9SGD1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-X9SGD1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-X9XWIU Kennedy disease 8B61.4 Orphanet 481 TPD-X9XWIU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-X9XWIU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-X9XWIU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-X9ZTPH Noonan syndrome LD2F.15 Orphanet 648 TPD-X9ZTPH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-X9ZTPH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-X9ZTPH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-X9ZTPH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-X9ZTPH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-X9ZTPH Lynch syndrome 2B90.Y Orphanet 144 TPD-X9ZTPH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-X9ZTPH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XA00XX Kennedy disease 8B61.4 Orphanet 481 TPD-XA00XX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XA00XX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XA00XX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XA1EPE Familial melanoma QC61.Y Orphanet 618 TPD-XA1EPE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XA38CH Noonan syndrome LD2F.15 Orphanet 648 TPD-XA38CH Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-XA3YZ5 Noonan syndrome LD2F.15 Orphanet 648 TPD-XA3YZ5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XA3YZ5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XA3YZ5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XA3YZ5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XA3YZ5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XA3YZ5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XA3YZ5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XA3YZ5 Craniopharyngioma 2F9A Orphanet 54595 TPD-XA3YZ5 Cushing disease 5A70.0 Orphanet 96253 TPD-XA4ENY Noonan syndrome LD2F.15 Orphanet 648 TPD-XA4ENY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XA4ENY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XA4ENY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XA4ENY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XA4ENY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XA4ENY Lynch syndrome 2B90.Y Orphanet 144 TPD-XA4ENY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XA4ENY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XA6JTJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XA8DE9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XAAR48 Noonan syndrome LD2F.15 Orphanet 648 TPD-XAAR48 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XAAR48 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XAAR48 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XAAR48 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XAAR48 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XAAR48 Lynch syndrome 2B90.Y Orphanet 144 TPD-XAAR48 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XAAR48 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XADWDG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XADWDG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XAHJOI Kennedy disease 8B61.4 Orphanet 481 TPD-XAHJOI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XAHJOI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XAHJOI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XAKQ7O Kennedy disease 8B61.4 Orphanet 481 TPD-XAKQ7O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XAKQ7O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XAKQ7O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XAKQ7O Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-XAKQ7O Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-XAKQ7O Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-XAKQ7O Distal myopathy, Welander type 8C75 Orphanet 603 TPD-XANCA4 Noonan syndrome LD2F.15 Orphanet 648 TPD-XANCA4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XANCA4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XANCA4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XANCA4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XANCA4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XANCA4 Lynch syndrome 2B90.Y Orphanet 144 TPD-XANCA4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XANCA4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XANHKN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XANHKN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XANHKN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XAOJG0 Noonan syndrome LD2F.15 Orphanet 648 TPD-XAOJG0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XAOJG0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XAOJG0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XAOJG0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XAOJG0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XAOJG0 Lynch syndrome 2B90.Y Orphanet 144 TPD-XAOJG0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XAOJG0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XAQVD5 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XAQVD5 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XAQVD5 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XAR52Y Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XAR52Y Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XAR52Y B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XAR52Y B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XASYMN Familial melanoma QC61.Y Orphanet 618 TPD-XASYMN Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XATKGV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XAUYTV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XB2EUG Kennedy disease 8B61.4 Orphanet 481 TPD-XB2EUG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XB2EUG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XB2EUG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XB49X9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XB49X9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XB4HD6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XB4HD6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XB6KYR Kennedy disease 8B61.4 Orphanet 481 TPD-XB6KYR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XB6KYR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XB6KYR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XB6XKK Kennedy disease 8B61.4 Orphanet 481 TPD-XB6XKK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XB6XKK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XB6XKK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XBD7ME Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-XBD7ME Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-XBD7ME Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-XBD7ME Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-XBD7ME Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-XBD7ME Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-XBD7ME Semantic dementia 6D83 Orphanet 100069 TPD-XBD7ME Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-XBHDJU Noonan syndrome LD2F.15 Orphanet 648 TPD-XBHDJU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XBHDJU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XBHDJU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XBHDJU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XBHDJU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XBHDJU Lynch syndrome 2B90.Y Orphanet 144 TPD-XBHDJU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XBHDJU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XBHJCI Kennedy disease 8B61.4 Orphanet 481 TPD-XBHJCI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XBHJCI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XBHJCI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XBJERE Familial melanoma QC61.Y Orphanet 618 TPD-XBJERE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XBKJLP Noonan syndrome LD2F.15 Orphanet 648 TPD-XBKJLP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XBKJLP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XBKJLP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XBKJLP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XBKJLP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XBKJLP Lynch syndrome 2B90.Y Orphanet 144 TPD-XBKJLP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XBKJLP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XBNYQ1 Kennedy disease 8B61.4 Orphanet 481 TPD-XBNYQ1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XBNYQ1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XBNYQ1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XBRDM0 Autosomal recessive non-syndromic intellectual disability LD90.Y Orphanet 88616 TPD-XBRO6Q CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XBU9VA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XBU9VA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XBU9VA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XBU9VA Duane retraction syndrome 9C82.2 Orphanet 233 TPD-XBU9VA Okihiro syndrome due to 20q13 microdeletion LD44.L0 Orphanet 261638 TPD-XBU9VA Okihiro syndrome due to a point mutation LD2F.1Y Orphanet 261647 TPD-XBU9VA Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-XBU9VA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XBUTAR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XBUTAR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XBUTAR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XBUTAR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XBVKSL Noonan syndrome LD2F.15 Orphanet 648 TPD-XBVKSL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XBVKSL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XBVKSL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XBVKSL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XBVKSL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XBVKSL Lynch syndrome 2B90.Y Orphanet 144 TPD-XBVKSL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XBVKSL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XC062Z Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XC062Z Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XC062Z Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XC0O79 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XC0O79 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XC5D8J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XC62LK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XC9YRN Noonan syndrome LD2F.15 Orphanet 648 TPD-XC9YRN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XC9YRN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XC9YRN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XC9YRN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XC9YRN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XC9YRN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XC9YRN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XC9YRN Craniopharyngioma 2F9A Orphanet 54595 TPD-XC9YRN Cushing disease 5A70.0 Orphanet 96253 TPD-XCCEK4 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-XCDQNR Noonan syndrome LD2F.15 Orphanet 648 TPD-XCDQNR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XCDQNR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XCDQNR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XCDQNR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XCDQNR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XCDQNR Lynch syndrome 2B90.Y Orphanet 144 TPD-XCDQNR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XCDQNR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XCGXF2 Kennedy disease 8B61.4 Orphanet 481 TPD-XCGXF2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XCGXF2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XCGXF2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XCH1IA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XCIBNA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XCIBNA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XCIBNA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XCIBNA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XCIK5J Kennedy disease 8B61.4 Orphanet 481 TPD-XCIK5J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XCIK5J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XCIK5J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XCIZ68 Noonan syndrome LD2F.15 Orphanet 648 TPD-XCIZ68 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-XCJA0D Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XCKVOL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XCKVOL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XCR4Y5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XCR4Y5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XCR6VL Noonan syndrome LD2F.15 Orphanet 648 TPD-XCR6VL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XCR6VL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XCR6VL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XCR6VL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XCR6VL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XCR6VL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XCR6VL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XCR6VL Craniopharyngioma 2F9A Orphanet 54595 TPD-XCR6VL Cushing disease 5A70.0 Orphanet 96253 TPD-XCSTE8 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-XCTCV9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XCTCV9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XCTCV9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XCTCV9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XCUSPJ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XCUSPJ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XCUSPJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XCUSPJ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XCUZSB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XCXZ01 Noonan syndrome LD2F.15 Orphanet 648 TPD-XCXZ01 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XCXZ01 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XCXZ01 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XCXZ01 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XCXZ01 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XCXZ01 Lynch syndrome 2B90.Y Orphanet 144 TPD-XCXZ01 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XCXZ01 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XCZUUR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XD2V4U CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XD4M9Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XD4M9Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XD4M9Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XD5ZLF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XD9V3O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XD9V3O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XDDREI Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-XDIMEP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XDIMEP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XDIMEP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XDIOMU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XDIOMU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XDMDSU Kennedy disease 8B61.4 Orphanet 481 TPD-XDMDSU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XDMDSU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XDMDSU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XDOO1I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XDOO1I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XDOO1I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XDOO1I B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XDPDLU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XDTEZN Noonan syndrome LD2F.15 Orphanet 648 TPD-XDTEZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XDTEZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XDTEZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XDTEZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XDTEZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XDTEZN Lynch syndrome 2B90.Y Orphanet 144 TPD-XDTEZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XDTEZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XDUE1N Kennedy disease 8B61.4 Orphanet 481 TPD-XDUE1N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XDUE1N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XDUE1N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XDVVQF Noonan syndrome LD2F.15 Orphanet 648 TPD-XDVVQF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XDVVQF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XDVVQF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XDVVQF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XDVVQF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XDVVQF Lynch syndrome 2B90.Y Orphanet 144 TPD-XDVVQF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XDVVQF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XE45H1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XE45H1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XE45H1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XE45H1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XE8GW7 Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-XECVVP Kennedy disease 8B61.4 Orphanet 481 TPD-XECVVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XECVVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XECVVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XEDO6U Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XEDO6U Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XEEYBI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XEEYBI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XEEYBI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XEEYBI B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XEFKZB Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-XEGMG8 Noonan syndrome LD2F.15 Orphanet 648 TPD-XEGMG8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XEGMG8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XEGMG8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XEGMG8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XEGMG8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XEGMG8 Lynch syndrome 2B90.Y Orphanet 144 TPD-XEGMG8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XEGMG8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XEL579 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XEMLYI Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-XEMLYI Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-XEMLYI Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-XEMLYI Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-XEMLYI Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-XEMLYI Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-XEMLYI Semantic dementia 6D83 Orphanet 100069 TPD-XEMLYI Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-XEO3TK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XEP9JN Kennedy disease 8B61.4 Orphanet 481 TPD-XEP9JN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XEP9JN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XEP9JN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XERRG8 Idiopathic pulmonary fibrosis CB03.4 Orphanet 2032 TPD-XES8LN Kennedy disease 8B61.4 Orphanet 481 TPD-XES8LN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XES8LN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XES8LN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XES8Z6 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-XESGB7 Kennedy disease 8B61.4 Orphanet 481 TPD-XESGB7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XESGB7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XESGB7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XESN2T Noonan syndrome LD2F.15 Orphanet 648 TPD-XESN2T Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-XETW0K Noonan syndrome LD2F.15 Orphanet 648 TPD-XETW0K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XETW0K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XETW0K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XETW0K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XETW0K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XETW0K Lynch syndrome 2B90.Y Orphanet 144 TPD-XETW0K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XETW0K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XEUIOF Noonan syndrome LD2F.15 Orphanet 648 TPD-XEUIOF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XEUIOF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XEUIOF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XEUIOF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XEUIOF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XEUIOF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XEUIOF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XEUIOF Craniopharyngioma 2F9A Orphanet 54595 TPD-XEUIOF Cushing disease 5A70.0 Orphanet 96253 TPD-XEVHU9 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XEVHU9 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XF0D8P X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XF0D8P Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XF0ND0 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XF382G Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XF382G Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XF4RUC Kennedy disease 8B61.4 Orphanet 481 TPD-XF4RUC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XF4RUC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XF4RUC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XF67I3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XF7LHU Kennedy disease 8B61.4 Orphanet 481 TPD-XF7LHU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XF7LHU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XF7LHU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XF8CFF Familial melanoma QC61.Y Orphanet 618 TPD-XF8CFF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XF9UEE Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XF9UEE Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XFE8F2 Kennedy disease 8B61.4 Orphanet 481 TPD-XFE8F2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XFE8F2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XFE8F2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XFFE6A CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XFFQEA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XFG7MK Familial melanoma QC61.Y Orphanet 618 TPD-XFG7MK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XFHFSN Kennedy disease 8B61.4 Orphanet 481 TPD-XFHFSN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XFHFSN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XFHFSN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XFHGO7 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-XFHGO7 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-XFHGO7 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-XFHGO7 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-XFHGO7 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-XFHGO7 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-XFHGO7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XFHGO7 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-XFHGO7 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XFI7BH Noonan syndrome LD2F.15 Orphanet 648 TPD-XFI7BH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XFI7BH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XFI7BH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XFI7BH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XFI7BH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XFI7BH Lynch syndrome 2B90.Y Orphanet 144 TPD-XFI7BH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XFI7BH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XFJWJ1 Noonan syndrome LD2F.15 Orphanet 648 TPD-XFJWJ1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XFJWJ1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XFJWJ1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XFJWJ1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XFJWJ1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XFJWJ1 Lynch syndrome 2B90.Y Orphanet 144 TPD-XFJWJ1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XFJWJ1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XFMSVJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XFMSVJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XFOA9K Familial melanoma QC61.Y Orphanet 618 TPD-XFOA9K Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XFRBBE Kennedy disease 8B61.4 Orphanet 481 TPD-XFRBBE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XFRBBE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XFRBBE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XFS2HA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XFS2HA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XFS2HA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XFS2HA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XFW658 Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-XFWYLA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XFXYKJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XFXYKJ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XG1YIM Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XG2X40 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XG2X40 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XG2X40 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XG31K2 Noonan syndrome LD2F.15 Orphanet 648 TPD-XG31K2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XG31K2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XG31K2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XG31K2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XG31K2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XG31K2 Lynch syndrome 2B90.Y Orphanet 144 TPD-XG31K2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XG31K2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XG5BSA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XG5BSA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XG5QQO Kennedy disease 8B61.4 Orphanet 481 TPD-XG5QQO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XG5QQO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XG5QQO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XGCGZN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XGCGZN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XGCGZN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XGCGZN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XGGA99 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XGGA99 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XGGA99 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XGGA99 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XGGFKR Familial melanoma QC61.Y Orphanet 618 TPD-XGGFKR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XGHJMX Kennedy disease 8B61.4 Orphanet 481 TPD-XGHJMX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XGHJMX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XGHJMX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XGHMVT Kennedy disease 8B61.4 Orphanet 481 TPD-XGHMVT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XGHMVT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XGHMVT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XGHYQA Achondroplasia LD24.00 Orphanet 15 TPD-XGHYQA Hypochondroplasia LD24.01 Orphanet 429 TPD-XGHYQA Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-XGHYQA Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-XGHYQA Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-XGHYQA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XGHYQA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XGHYQA Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-XGHYQA Muenke syndrome LD24.GY Orphanet 53271 TPD-XGHYQA Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-XGHYQA Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-XGHYQA Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-XGLSCG Familial melanoma QC61.Y Orphanet 618 TPD-XGLSCG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XGMA8X Noonan syndrome LD2F.15 Orphanet 648 TPD-XGMA8X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XGMA8X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XGMA8X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XGMA8X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XGMA8X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XGMA8X Lynch syndrome 2B90.Y Orphanet 144 TPD-XGMA8X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XGMA8X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XGNEWB Noonan syndrome LD2F.15 Orphanet 648 TPD-XGNEWB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XGNEWB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XGNEWB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XGNEWB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XGNEWB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XGNEWB Lynch syndrome 2B90.Y Orphanet 144 TPD-XGNEWB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XGNEWB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XGQ3EI Kennedy disease 8B61.4 Orphanet 481 TPD-XGQ3EI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XGQ3EI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XGQ3EI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XGRKMK Familial melanoma QC61.Y Orphanet 618 TPD-XGRKMK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XGRNM9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XGRNM9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XGRNM9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XH131C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XH131C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XH131C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XH131C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XH4YXP Familial melanoma QC61.Y Orphanet 618 TPD-XH4YXP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XH6EBE Noonan syndrome LD2F.15 Orphanet 648 TPD-XH6EBE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XH6EBE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XH6EBE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XH6EBE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XH6EBE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XH6EBE Lynch syndrome 2B90.Y Orphanet 144 TPD-XH6EBE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XH6EBE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XH6Y00 Noonan syndrome LD2F.15 Orphanet 648 TPD-XH6Y00 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XH6Y00 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XH6Y00 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XH6Y00 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XH6Y00 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XH6Y00 Lynch syndrome 2B90.Y Orphanet 144 TPD-XH6Y00 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XH6Y00 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XH80Q5 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XHAO3U Kennedy disease 8B61.4 Orphanet 481 TPD-XHAO3U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XHAO3U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XHAO3U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XHBYF6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XHF3LW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XHFFI6 Noonan syndrome LD2F.15 Orphanet 648 TPD-XHFFI6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XHFFI6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XHFFI6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XHFFI6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XHFFI6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XHFFI6 Lynch syndrome 2B90.Y Orphanet 144 TPD-XHFFI6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XHFFI6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XHFODU Kennedy disease 8B61.4 Orphanet 481 TPD-XHFODU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XHFODU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XHFODU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XHJYWF Noonan syndrome LD2F.15 Orphanet 648 TPD-XHJYWF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XHJYWF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XHJYWF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XHJYWF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XHJYWF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XHJYWF Lynch syndrome 2B90.Y Orphanet 144 TPD-XHJYWF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XHJYWF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XHM35C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XHM35C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XHOM7M Kennedy disease 8B61.4 Orphanet 481 TPD-XHOM7M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XHOM7M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XHOM7M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XHUIFZ Noonan syndrome LD2F.15 Orphanet 648 TPD-XHUIFZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XHUIFZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XHUIFZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XHUIFZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XHUIFZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XHUIFZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XHUIFZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XHUIFZ Craniopharyngioma 2F9A Orphanet 54595 TPD-XHUIFZ Cushing disease 5A70.0 Orphanet 96253 TPD-XHV8ED Kennedy disease 8B61.4 Orphanet 481 TPD-XHV8ED Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XHV8ED Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XHV8ED Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XHWQPP Kennedy disease 8B61.4 Orphanet 481 TPD-XHWQPP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XHWQPP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XHWQPP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XI2NKZ Noonan syndrome LD2F.15 Orphanet 648 TPD-XI2NKZ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-XI2OCA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XI2OCA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XI2OCA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XI3H1O Kennedy disease 8B61.4 Orphanet 481 TPD-XI3H1O Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XI3H1O Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XI3H1O Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XI6ZO1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XI6ZO1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XI8FN7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XI8FN7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XI8FN7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XI8KVQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XIB0KO Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XIB0KO Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XIH6LZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XIH6LZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XIIHCV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XILTZW Kennedy disease 8B61.4 Orphanet 481 TPD-XILTZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XILTZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XILTZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XILW5Q CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XIM2VL Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XIO6OT Kennedy disease 8B61.4 Orphanet 481 TPD-XIO6OT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XIO6OT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XIO6OT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XIQVJI Noonan syndrome LD2F.15 Orphanet 648 TPD-XIQVJI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XIQVJI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XIQVJI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XIQVJI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XIQVJI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XIQVJI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XIQVJI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XIQVJI Craniopharyngioma 2F9A Orphanet 54595 TPD-XIQVJI Cushing disease 5A70.0 Orphanet 96253 TPD-XIU8U1 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XIVA36 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-XIWUV8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XIX9TI Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XIX9TI Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XIX9TI B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XIXAD0 Kennedy disease 8B61.4 Orphanet 481 TPD-XIXAD0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XIXAD0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XIXAD0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJ2DDP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XJ2DDP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XJ2DDP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XJ2DDP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XJ3ZX9 Noonan syndrome LD2F.15 Orphanet 648 TPD-XJ3ZX9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XJ3ZX9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XJ3ZX9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XJ3ZX9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XJ3ZX9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XJ3ZX9 Lynch syndrome 2B90.Y Orphanet 144 TPD-XJ3ZX9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XJ3ZX9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XJ5CAF Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XJ6J54 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XJ6J54 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XJ9FPD Kennedy disease 8B61.4 Orphanet 481 TPD-XJ9FPD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XJ9FPD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XJ9FPD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJAQ7M Noonan syndrome LD2F.15 Orphanet 648 TPD-XJAQ7M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XJAQ7M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XJAQ7M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XJAQ7M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XJAQ7M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XJAQ7M Lynch syndrome 2B90.Y Orphanet 144 TPD-XJAQ7M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XJAQ7M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XJDOL7 Kennedy disease 8B61.4 Orphanet 481 TPD-XJDOL7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XJDOL7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XJDOL7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJFPKA Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XJFPKA Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XJFPKA Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XJIGJ6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XJIM4T Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XJJP8C Noonan syndrome LD2F.15 Orphanet 648 TPD-XJJP8C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XJJP8C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XJJP8C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XJJP8C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XJJP8C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XJJP8C Lynch syndrome 2B90.Y Orphanet 144 TPD-XJJP8C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XJJP8C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XJMGVU Noonan syndrome LD2F.15 Orphanet 648 TPD-XJMGVU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XJMGVU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XJMGVU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XJMGVU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XJMGVU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XJMGVU Lynch syndrome 2B90.Y Orphanet 144 TPD-XJMGVU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XJMGVU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XJMX02 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XJMX02 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XJSE6W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XJSI4D Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XJSI4D Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XJSI4D B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XJSI4D B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XJTV7H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XJVDHR Kennedy disease 8B61.4 Orphanet 481 TPD-XJVDHR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XJVDHR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XJVDHR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJVTWR Weaver syndrome LD2C Orphanet 3447 TPD-XJX273 Kennedy disease 8B61.4 Orphanet 481 TPD-XJX273 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XJX273 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XJX273 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJYUBB Kennedy disease 8B61.4 Orphanet 481 TPD-XJYUBB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XJYUBB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XJYUBB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XJZ0A3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XJZ0A3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XK0AMS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XK0AMS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XK3NGK Noonan syndrome LD2F.15 Orphanet 648 TPD-XK3NGK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XK3NGK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XK3NGK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XK3NGK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XK3NGK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XK3NGK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XK3NGK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XK3NGK Craniopharyngioma 2F9A Orphanet 54595 TPD-XK3NGK Cushing disease 5A70.0 Orphanet 96253 TPD-XK3OE0 Kennedy disease 8B61.4 Orphanet 481 TPD-XK3OE0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XK3OE0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XK3OE0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XK3ZI6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XK3ZI6 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XK5AKM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XK5AKM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XK5G5Q Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-XK5WXE Kennedy disease 8B61.4 Orphanet 481 TPD-XK5WXE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XK5WXE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XK5WXE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XK68BD Kennedy disease 8B61.4 Orphanet 481 TPD-XK68BD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XK68BD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XK68BD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XK7VJM Noonan syndrome LD2F.15 Orphanet 648 TPD-XK7VJM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XK7VJM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XK7VJM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XK7VJM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XK7VJM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XK7VJM Lynch syndrome 2B90.Y Orphanet 144 TPD-XK7VJM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XK7VJM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XK8102 Familial melanoma QC61.Y Orphanet 618 TPD-XK8102 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XKAKHQ Familial melanoma QC61.Y Orphanet 618 TPD-XKAKHQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XKB11C Familial melanoma QC61.Y Orphanet 618 TPD-XKB11C Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XKCBZQ Familial melanoma QC61.Y Orphanet 618 TPD-XKCBZQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XKI23Y Kennedy disease 8B61.4 Orphanet 481 TPD-XKI23Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XKI23Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XKI23Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XKI2J4 Kennedy disease 8B61.4 Orphanet 481 TPD-XKI2J4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XKI2J4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XKI2J4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XKI8AI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XKLZJJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XKOEJO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XKOEJO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XKQMS5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XKQMS5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XKVWFV Kennedy disease 8B61.4 Orphanet 481 TPD-XKVWFV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XKVWFV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XKVWFV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XL1BGC Burkitt lymphoma XH4KA9 Orphanet 543 TPD-XL1BGC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XL1BGC Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XL2BYK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XL2BYK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XL2BYK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XL2LM5 Familial melanoma QC61.Y Orphanet 618 TPD-XL2LM5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XL708D Kennedy disease 8B61.4 Orphanet 481 TPD-XL708D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XL708D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XL708D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XLD5V5 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-XLD5V5 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-XLGIZP Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XLIK41 Noonan syndrome LD2F.15 Orphanet 648 TPD-XLIK41 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XLIK41 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XLIK41 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XLIK41 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XLIK41 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XLIK41 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XLIK41 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XLIK41 Craniopharyngioma 2F9A Orphanet 54595 TPD-XLIK41 Cushing disease 5A70.0 Orphanet 96253 TPD-XLQ6WS Familial melanoma QC61.Y Orphanet 618 TPD-XLQ6WS Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XLUUIJ Kennedy disease 8B61.4 Orphanet 481 TPD-XLUUIJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XLUUIJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XLUUIJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XLV24R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XLVW5F Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XLW5E9 2q37 microdeletion syndrome LD44.20 Orphanet 1001 TPD-XM3E8T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XM3E8T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XM3E8T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XM3E8T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XM6BNO Kennedy disease 8B61.4 Orphanet 481 TPD-XM6BNO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XM6BNO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XM6BNO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XM85CJ CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XMCN09 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XMCN09 Neuroblastoma 2A00.11 Orphanet 635 TPD-XMCN09 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-XMCN09 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-XMCN09 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-XMDFK2 Kennedy disease 8B61.4 Orphanet 481 TPD-XMDFK2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XMDFK2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XMDFK2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XMFJBQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XMFJBQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XMKUWB Kennedy disease 8B61.4 Orphanet 481 TPD-XMKUWB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XMKUWB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XMKUWB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XMLTQR Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XMRTTM Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XMRTTM Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XMRTTM Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XMVBW7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XMVBW7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XMVBW7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XMVBW7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XMW1IA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XMW1IA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XMZWJY Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 4A01.21 Orphanet 37042 TPD-XN2PDU Familial melanoma QC61.Y Orphanet 618 TPD-XN2PDU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XN307N Familial melanoma QC61.Y Orphanet 618 TPD-XN307N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XN7PU4 Kennedy disease 8B61.4 Orphanet 481 TPD-XN7PU4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XN7PU4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XN7PU4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XN8BJ6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XN8BJ6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XN8BJ6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XNC38A Noonan syndrome LD2F.15 Orphanet 648 TPD-XNC38A Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XNC38A Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XNC38A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNC38A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNC38A Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XNC38A Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XNC38A Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XNC38A Craniopharyngioma 2F9A Orphanet 54595 TPD-XNC38A Cushing disease 5A70.0 Orphanet 96253 TPD-XNCWAT Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XNF1KP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XNF1KP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XNFMR6 Noonan syndrome LD2F.15 Orphanet 648 TPD-XNFMR6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XNFMR6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNFMR6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XNFMR6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNFMR6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XNFMR6 Lynch syndrome 2B90.Y Orphanet 144 TPD-XNFMR6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XNFMR6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XNFZ1C Kennedy disease 8B61.4 Orphanet 481 TPD-XNFZ1C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XNFZ1C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XNFZ1C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XNI98F Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XNI98F Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XNI98F Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XNJK8C Noonan syndrome LD2F.15 Orphanet 648 TPD-XNJK8C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XNJK8C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNJK8C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XNJK8C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNJK8C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XNJK8C Lynch syndrome 2B90.Y Orphanet 144 TPD-XNJK8C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XNJK8C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XNKBD8 Noonan syndrome LD2F.15 Orphanet 648 TPD-XNKBD8 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XNKBD8 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XNKBD8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNKBD8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNKBD8 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XNKBD8 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XNKBD8 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XNKBD8 Craniopharyngioma 2F9A Orphanet 54595 TPD-XNKBD8 Cushing disease 5A70.0 Orphanet 96253 TPD-XNKG1A Noonan syndrome LD2F.15 Orphanet 648 TPD-XNKG1A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XNKG1A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNKG1A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XNKG1A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNKG1A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XNKG1A Lynch syndrome 2B90.Y Orphanet 144 TPD-XNKG1A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XNKG1A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XNMN1M Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XNMN1M Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XNRP3H Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XNRP3H Neuroblastoma 2A00.11 Orphanet 635 TPD-XNRP3H Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-XNRP3H ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-XNRP3H ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-XNSMPL Noonan syndrome LD2F.15 Orphanet 648 TPD-XNSMPL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XNSMPL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XNSMPL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XNSMPL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XNSMPL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XNSMPL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XNSMPL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XNSMPL Craniopharyngioma 2F9A Orphanet 54595 TPD-XNSMPL Cushing disease 5A70.0 Orphanet 96253 TPD-XNV3ZY Kennedy disease 8B61.4 Orphanet 481 TPD-XNV3ZY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XNV3ZY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XNV3ZY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XNWRHJ Kennedy disease 8B61.4 Orphanet 481 TPD-XNWRHJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XNWRHJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XNWRHJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XNXGQC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XNXGQC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XNZP2Q Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XNZP2Q Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XO0SNC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XO0SNC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XO0SNC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XO14VT Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-XO3MT1 Noonan syndrome LD2F.15 Orphanet 648 TPD-XO3MT1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XO3MT1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XO3MT1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XO3MT1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XO3MT1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XO3MT1 Lynch syndrome 2B90.Y Orphanet 144 TPD-XO3MT1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XO3MT1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XO4TEM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XO4TEM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XO4TEM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XO7A1S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XO7EDJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XO7EDJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XO7EDJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XOAEDV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XOAEDV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XOAEDV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XOC85X Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XOCOG4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XOD6KS Noonan syndrome LD2F.15 Orphanet 648 TPD-XOD6KS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XOD6KS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XOD6KS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XOD6KS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XOD6KS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XOD6KS Lynch syndrome 2B90.Y Orphanet 144 TPD-XOD6KS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XOD6KS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XOET08 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XOET08 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XOET08 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XOET08 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XOGIUO Kennedy disease 8B61.4 Orphanet 481 TPD-XOGIUO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XOGIUO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XOGIUO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XOIPHR Kennedy disease 8B61.4 Orphanet 481 TPD-XOIPHR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XOIPHR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XOIPHR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XOLR97 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XOLYAU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XON49B Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XOOC9R Familial melanoma QC61.Y Orphanet 618 TPD-XOOC9R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XOSL3A Familial melanoma QC61.Y Orphanet 618 TPD-XOSL3A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XOSPGY Kennedy disease 8B61.4 Orphanet 481 TPD-XOSPGY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XOSPGY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XOSPGY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XOXIIP Kennedy disease 8B61.4 Orphanet 481 TPD-XOXIIP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XOXIIP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XOXIIP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XP0E6L Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XP0L5M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XP0L5M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XP0L5M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XP0L5M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XP6U6S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XP6U6S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XP6U6S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XPCG8Z Familial melanoma QC61.Y Orphanet 618 TPD-XPCG8Z Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XPCX6P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XPH83S Noonan syndrome LD2F.15 Orphanet 648 TPD-XPH83S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XPH83S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XPH83S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XPH83S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XPH83S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XPH83S Lynch syndrome 2B90.Y Orphanet 144 TPD-XPH83S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XPH83S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XPJ5U9 Familial melanoma QC61.Y Orphanet 618 TPD-XPJ5U9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XPJW11 Kennedy disease 8B61.4 Orphanet 481 TPD-XPJW11 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XPJW11 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XPJW11 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XPZGUZ Noonan syndrome LD2F.15 Orphanet 648 TPD-XPZGUZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XPZGUZ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XPZGUZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XPZGUZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XPZGUZ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XPZGUZ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XPZGUZ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XPZGUZ Craniopharyngioma 2F9A Orphanet 54595 TPD-XPZGUZ Cushing disease 5A70.0 Orphanet 96253 TPD-XQ0G76 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-XQ0G76 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-XQ0G76 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-XQ0G76 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-XQ0G76 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-XQ0G76 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-XQ0G76 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XQ0G76 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-XQ0G76 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XQ0J2D Kennedy disease 8B61.4 Orphanet 481 TPD-XQ0J2D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XQ0J2D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XQ0J2D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XQ17L8 Kennedy disease 8B61.4 Orphanet 481 TPD-XQ17L8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XQ17L8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XQ17L8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XQ3J5R X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XQ3J5R Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XQ42QJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XQ42QJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XQ4GPP Kennedy disease 8B61.4 Orphanet 481 TPD-XQ4GPP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XQ4GPP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XQ4GPP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XQ7RE5 Kennedy disease 8B61.4 Orphanet 481 TPD-XQ7RE5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XQ7RE5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XQ7RE5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XQC7HA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XQC7HA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XQCMTY Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XQEDMW Kennedy disease 8B61.4 Orphanet 481 TPD-XQEDMW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XQEDMW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XQEDMW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XQF2G7 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XQF2G7 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XQF2G7 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XQG2NF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XQG2NF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XQGXTZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XQJ20O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XQJ20O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XQJ20O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XQJ20O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XQJK4T Noonan syndrome LD2F.15 Orphanet 648 TPD-XQJK4T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XQJK4T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XQJK4T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XQJK4T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XQJK4T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XQJK4T Lynch syndrome 2B90.Y Orphanet 144 TPD-XQJK4T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XQJK4T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XQM729 Familial melanoma QC61.Y Orphanet 618 TPD-XQM729 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XQOWG7 Noonan syndrome LD2F.15 Orphanet 648 TPD-XQOWG7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XQOWG7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XQOWG7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XQOWG7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XQOWG7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XQOWG7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XQOWG7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XQOWG7 Craniopharyngioma 2F9A Orphanet 54595 TPD-XQOWG7 Cushing disease 5A70.0 Orphanet 96253 TPD-XQQPJ9 Noonan syndrome LD2F.15 Orphanet 648 TPD-XQQPJ9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XQQPJ9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XQQPJ9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XQQPJ9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XQQPJ9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XQQPJ9 Lynch syndrome 2B90.Y Orphanet 144 TPD-XQQPJ9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XQQPJ9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XQTLPD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XQTWE5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XQTWE5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XQTWE5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XQTWE5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XQWOQJ Noonan syndrome LD2F.15 Orphanet 648 TPD-XQWOQJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XQWOQJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XQWOQJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XQWOQJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XQWOQJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XQWOQJ Lynch syndrome 2B90.Y Orphanet 144 TPD-XQWOQJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XQWOQJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XQX0ML Noonan syndrome LD2F.15 Orphanet 648 TPD-XQX0ML Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XQX0ML Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XQX0ML Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XQX0ML Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XQX0ML Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XQX0ML Lynch syndrome 2B90.Y Orphanet 144 TPD-XQX0ML Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XQX0ML Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XQYH1W Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XR3VMJ Kennedy disease 8B61.4 Orphanet 481 TPD-XR3VMJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XR3VMJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XR3VMJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XR3W27 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-XR3W27 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XR3W27 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XRATQU Kennedy disease 8B61.4 Orphanet 481 TPD-XRATQU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XRATQU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XRATQU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XREP05 Kennedy disease 8B61.4 Orphanet 481 TPD-XREP05 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XREP05 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XREP05 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XRHH1B Noonan syndrome LD2F.15 Orphanet 648 TPD-XRHH1B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XRHH1B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XRHH1B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XRHH1B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XRHH1B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XRHH1B Lynch syndrome 2B90.Y Orphanet 144 TPD-XRHH1B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XRHH1B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XRHTSQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XRHTSQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XRHTSQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XRHTSQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XRI3NY Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XRI3NY Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XRI3NY Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XRJQ0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-XRJQ0Z Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XRJQ0Z Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XRJQ0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XRJQ0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XRJQ0Z Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XRJQ0Z Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XRJQ0Z Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XRJQ0Z Craniopharyngioma 2F9A Orphanet 54595 TPD-XRJQ0Z Cushing disease 5A70.0 Orphanet 96253 TPD-XRNYLI Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XRO20V Kennedy disease 8B61.4 Orphanet 481 TPD-XRO20V Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XRO20V Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XRO20V Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XRPEIZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XRPEIZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XRPEIZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XRPEIZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XRW2KP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XRW2KP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XRW2KP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XS0SAF X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XS0SAF Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XS1UL5 Kennedy disease 8B61.4 Orphanet 481 TPD-XS1UL5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XS1UL5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XS1UL5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XS5O2Z Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XS5O2Z Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XS5O2Z B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XS5O2Z B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XS5RPH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XS5RPH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XS5RPH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XSBODQ Kennedy disease 8B61.4 Orphanet 481 TPD-XSBODQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XSBODQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XSBODQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XSCBWH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XSCBWH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XSDBKS Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XSG7DL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XSG7DL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XSH5MM Noonan syndrome LD2F.15 Orphanet 648 TPD-XSH5MM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XSH5MM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XSH5MM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XSH5MM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XSH5MM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XSH5MM Lynch syndrome 2B90.Y Orphanet 144 TPD-XSH5MM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XSH5MM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XSQOTI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XSQOTI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XSVMZH Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XSWC7Q Kennedy disease 8B61.4 Orphanet 481 TPD-XSWC7Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XSWC7Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XSWC7Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XT1Y55 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XT1Y55 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XT2NAG Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XT2NAG Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XT2NAG Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XT364H Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-XT4QZJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XT4QZJ Neuroblastoma 2A00.11 Orphanet 635 TPD-XT4QZJ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-XT4QZJ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-XT4QZJ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-XT4S7I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XT4S7I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XT864L Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XT864L Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XT864L Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XTA6ZY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XTA6ZY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XTA6ZY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XTA6ZY B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XTCKWX Kennedy disease 8B61.4 Orphanet 481 TPD-XTCKWX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XTCKWX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XTCKWX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XTGWB9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XTH3AD Noonan syndrome LD2F.15 Orphanet 648 TPD-XTH3AD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XTH3AD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XTH3AD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XTH3AD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XTH3AD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XTH3AD Lynch syndrome 2B90.Y Orphanet 144 TPD-XTH3AD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XTH3AD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XTHJT0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XTHSKM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XTHSKM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XTHSKM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XTJS3H Kennedy disease 8B61.4 Orphanet 481 TPD-XTJS3H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XTJS3H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XTJS3H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XTKFMD Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XTL94C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XTL94C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XTLV6O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XTLV6O Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XTNNZN Noonan syndrome LD2F.15 Orphanet 648 TPD-XTNNZN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XTNNZN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XTNNZN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XTNNZN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XTNNZN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XTNNZN Lynch syndrome 2B90.Y Orphanet 144 TPD-XTNNZN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XTNNZN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XTP83X B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XTPFQQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XTPFQQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XTPFQQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XTRA26 Kennedy disease 8B61.4 Orphanet 481 TPD-XTRA26 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XTRA26 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XTRA26 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XU5YAA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XU8APD Weaver syndrome LD2C Orphanet 3447 TPD-XUECOA Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XUKCHJ Noonan syndrome LD2F.15 Orphanet 648 TPD-XUKCHJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XUKCHJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XUKCHJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XUKCHJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XUKCHJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XUKCHJ Lynch syndrome 2B90.Y Orphanet 144 TPD-XUKCHJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XUKCHJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XUQBDW Kennedy disease 8B61.4 Orphanet 481 TPD-XUQBDW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XUQBDW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XUQBDW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XUQECT Kennedy disease 8B61.4 Orphanet 481 TPD-XUQECT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XUQECT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XUQECT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XUWYPA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XUWYPA Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XUX8I0 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XUXXA2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XUXXA2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XUXXA2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XUZH8E Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XV0FY6 Kennedy disease 8B61.4 Orphanet 481 TPD-XV0FY6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XV0FY6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XV0FY6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XV1DKB Kennedy disease 8B61.4 Orphanet 481 TPD-XV1DKB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XV1DKB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XV1DKB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XV3NWC Kennedy disease 8B61.4 Orphanet 481 TPD-XV3NWC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XV3NWC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XV3NWC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XV6NTW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XV6NTW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-XV6OIA Kennedy disease 8B61.4 Orphanet 481 TPD-XV6OIA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XV6OIA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XV6OIA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XV9NHS Noonan syndrome LD2F.15 Orphanet 648 TPD-XV9NHS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XV9NHS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XV9NHS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XV9NHS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XV9NHS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XV9NHS Lynch syndrome 2B90.Y Orphanet 144 TPD-XV9NHS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XV9NHS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XVI0GB Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-XVIDDO Kennedy disease 8B61.4 Orphanet 481 TPD-XVIDDO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XVIDDO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XVIDDO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XVMGX2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XVMGX2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XVOMI9 Familial melanoma QC61.Y Orphanet 618 TPD-XVOMI9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XVU1BG Familial melanoma QC61.Y Orphanet 618 TPD-XVU1BG Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XVX95X X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XVX95X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XW0Y1U Kennedy disease 8B61.4 Orphanet 481 TPD-XW0Y1U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XW0Y1U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XW0Y1U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XW1QEV Kennedy disease 8B61.4 Orphanet 481 TPD-XW1QEV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XW1QEV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XW1QEV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XW50J3 Kennedy disease 8B61.4 Orphanet 481 TPD-XW50J3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XW50J3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XW50J3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XW56M4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XW56M4 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-XW56M4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XW5RHT Kennedy disease 8B61.4 Orphanet 481 TPD-XW5RHT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XW5RHT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XW5RHT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XW9T2U Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-XW9T2U Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-XW9T2U Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-XW9T2U Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-XW9T2U Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-XW9T2U Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-XW9T2U B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XW9T2U Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-XW9T2U Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XWAJII Burkitt lymphoma XH4KA9 Orphanet 543 TPD-XWAJII Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XWAJII Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XWD9Z1 Familial melanoma QC61.Y Orphanet 618 TPD-XWFF3B Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XWFYV8 Noonan syndrome LD2F.15 Orphanet 648 TPD-XWFYV8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XWFYV8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XWFYV8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XWFYV8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XWFYV8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XWFYV8 Lynch syndrome 2B90.Y Orphanet 144 TPD-XWFYV8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XWFYV8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XWGYR5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XWJB3G Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-XWMYJX Hirschsprung disease LB16.1 Orphanet 388 TPD-XWMYJX Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-XWMYJX Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-XWSXKW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XWSXKW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XWSXKW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XWSXKW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XWUPQX Kennedy disease 8B61.4 Orphanet 481 TPD-XWUPQX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XWUPQX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XWUPQX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XWV3XR Kennedy disease 8B61.4 Orphanet 481 TPD-XWV3XR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XWV3XR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XWV3XR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XX0WX5 Noonan syndrome LD2F.15 Orphanet 648 TPD-XX0WX5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XX0WX5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XX0WX5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XX0WX5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XX0WX5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XX0WX5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XX0WX5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XX0WX5 Craniopharyngioma 2F9A Orphanet 54595 TPD-XX0WX5 Cushing disease 5A70.0 Orphanet 96253 TPD-XX0XVD Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XX28I7 Noonan syndrome LD2F.15 Orphanet 648 TPD-XX28I7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XX28I7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XX28I7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XX28I7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XX28I7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XX28I7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XX28I7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XX28I7 Craniopharyngioma 2F9A Orphanet 54595 TPD-XX28I7 Cushing disease 5A70.0 Orphanet 96253 TPD-XX3G2R Kennedy disease 8B61.4 Orphanet 481 TPD-XX3G2R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XX3G2R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XX3G2R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XX6B1J Noonan syndrome LD2F.15 Orphanet 648 TPD-XX6B1J Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-XX6B1J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-XX6B1J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XX6B1J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XX6B1J Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-XX6B1J Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-XX6B1J Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-XX6B1J Craniopharyngioma 2F9A Orphanet 54595 TPD-XX6B1J Cushing disease 5A70.0 Orphanet 96253 TPD-XXBD6E X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XXBD6E Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XXFVVN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XXFVVN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XXFVVN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XXFVVN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XXGAKG Kennedy disease 8B61.4 Orphanet 481 TPD-XXGAKG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XXGAKG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XXGAKG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XXJNZH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XXJNZH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XXLGPE Noonan syndrome LD2F.15 Orphanet 648 TPD-XXLGPE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XXLGPE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XXLGPE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XXLGPE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XXLGPE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XXLGPE Lynch syndrome 2B90.Y Orphanet 144 TPD-XXLGPE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XXLGPE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XXN411 Noonan syndrome LD2F.15 Orphanet 648 TPD-XXN411 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XXN411 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XXN411 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XXN411 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XXN411 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XXN411 Lynch syndrome 2B90.Y Orphanet 144 TPD-XXN411 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XXN411 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XXRA06 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XXUMP6 Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-XY1WL8 Kennedy disease 8B61.4 Orphanet 481 TPD-XY1WL8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XY1WL8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XY1WL8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XY683Y Noonan syndrome LD2F.15 Orphanet 648 TPD-XY683Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XY683Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XY683Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XY683Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XY683Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XY683Y Lynch syndrome 2B90.Y Orphanet 144 TPD-XY683Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XY683Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XY6BZL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XY6BZL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XY7BTI Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-XY7BTI Wilson-Turner syndrome LD29 Orphanet 3459 TPD-XYEPCO Noonan syndrome LD2F.15 Orphanet 648 TPD-XYEPCO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XYEPCO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XYEPCO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XYEPCO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XYEPCO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XYEPCO Lynch syndrome 2B90.Y Orphanet 144 TPD-XYEPCO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XYEPCO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XYMDK2 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XYO3Z9 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XYO3Z9 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XYPB6V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XYPB6V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XYPB6V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XYR6KP Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-XYROVN Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XYROVN Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XYTZK5 Noonan syndrome LD2F.15 Orphanet 648 TPD-XYTZK5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XYTZK5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XYTZK5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XYTZK5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XYTZK5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XYTZK5 Lynch syndrome 2B90.Y Orphanet 144 TPD-XYTZK5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XYTZK5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XYUHVS Kennedy disease 8B61.4 Orphanet 481 TPD-XYUHVS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XYUHVS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XYUHVS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XZ03TH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XZ03TH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XZ03TH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XZ2W6E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-XZ2W6E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-XZ4BQZ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XZ51XN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XZ51XN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XZ51XN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XZ51XN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XZ5Z9S Noonan syndrome LD2F.15 Orphanet 648 TPD-XZ5Z9S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XZ5Z9S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XZ5Z9S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XZ5Z9S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XZ5Z9S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XZ5Z9S Lynch syndrome 2B90.Y Orphanet 144 TPD-XZ5Z9S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XZ5Z9S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XZ6JXB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-XZ6JXB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-XZ6JXB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XZ6JXB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-XZ9D8U Kennedy disease 8B61.4 Orphanet 481 TPD-XZ9D8U Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XZ9D8U Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XZ9D8U Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XZ9YIO Noonan syndrome LD2F.15 Orphanet 648 TPD-XZ9YIO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-XZ9YIO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-XZ9YIO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-XZ9YIO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-XZ9YIO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-XZ9YIO Lynch syndrome 2B90.Y Orphanet 144 TPD-XZ9YIO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-XZ9YIO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-XZAVMH Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-XZAVMH Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-XZECFP X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-XZECFP Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-XZJB8A Kennedy disease 8B61.4 Orphanet 481 TPD-XZJB8A Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-XZJB8A Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-XZJB8A Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-XZMGKU Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-XZN82P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-XZOANX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-XZOANX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-XZOANX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-XZQROY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-XZT9WF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-Y01MZI Noonan syndrome LD2F.15 Orphanet 648 TPD-Y01MZI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y01MZI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y01MZI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y01MZI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y01MZI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y01MZI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y01MZI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y01MZI Craniopharyngioma 2F9A Orphanet 54595 TPD-Y01MZI Cushing disease 5A70.0 Orphanet 96253 TPD-Y01UK5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y03666 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y03666 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y03666 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y05ZO3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y05ZO3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y07VJN Kennedy disease 8B61.4 Orphanet 481 TPD-Y07VJN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y07VJN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y07VJN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0AONU Familial melanoma QC61.Y Orphanet 618 TPD-Y0AONU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y0AZXX Noonan syndrome LD2F.15 Orphanet 648 TPD-Y0AZXX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y0AZXX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y0AZXX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y0AZXX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y0AZXX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y0AZXX Lynch syndrome 2B90.Y Orphanet 144 TPD-Y0AZXX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y0AZXX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y0B1QV Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y0B1QV Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y0DSY7 Kennedy disease 8B61.4 Orphanet 481 TPD-Y0DSY7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y0DSY7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y0DSY7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0EOY4 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y0EOY4 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y0FBQR Noonan syndrome LD2F.15 Orphanet 648 TPD-Y0FBQR Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y0FBQR Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y0FBQR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y0FBQR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y0FBQR Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y0FBQR Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y0FBQR Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y0FBQR Craniopharyngioma 2F9A Orphanet 54595 TPD-Y0FBQR Cushing disease 5A70.0 Orphanet 96253 TPD-Y0GDG9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y0JPB3 Familial melanoma QC61.Y Orphanet 618 TPD-Y0JPB3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y0JTE7 Kennedy disease 8B61.4 Orphanet 481 TPD-Y0JTE7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y0JTE7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y0JTE7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0K6IN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y0K6IN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y0K6IN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y0KHGI Kennedy disease 8B61.4 Orphanet 481 TPD-Y0KHGI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y0KHGI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y0KHGI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0KW1C Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-Y0LCMF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y0NRG3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y0NRG3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y0OFLI Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-Y0PD9R Kennedy disease 8B61.4 Orphanet 481 TPD-Y0PD9R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y0PD9R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y0PD9R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0PDZ8 Familial melanoma QC61.Y Orphanet 618 TPD-Y0QV45 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Y0QV45 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Y0QV45 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Y0QV45 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Y0QV45 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Y0QV45 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Y0QV45 Semantic dementia 6D83 Orphanet 100069 TPD-Y0QV45 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Y0VHRW Kennedy disease 8B61.4 Orphanet 481 TPD-Y0VHRW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y0VHRW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y0VHRW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y0XFJC Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Y0XFJC Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Y0XFJC Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Y0XFJC Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Y0XFJC Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Y0XFJC Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Y0XFJC Semantic dementia 6D83 Orphanet 100069 TPD-Y0XFJC Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Y0YU2F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y0YU2F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y0ZLJN Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y14FL8 Familial melanoma QC61.Y Orphanet 618 TPD-Y14FL8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y14TKS Noonan syndrome LD2F.15 Orphanet 648 TPD-Y14TKS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y14TKS Metachondromatosis LD24.2Y Orphanet 2499 TPD-Y14TKS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y14Z4H Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y158Z5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y158Z5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y158Z5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y158Z5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y1ARCW Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-Y1AXE0 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Y1E4S5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y1J7C7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y1J7C7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y1J7C7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y1KL2I Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y1KL2I Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y1KL2I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y1NV26 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y1NV26 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y1NV26 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y1NY90 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y1NY90 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y1VE3N Noonan syndrome LD2F.15 Orphanet 648 TPD-Y1VE3N Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y1VE3N Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y1VE3N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y1VE3N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y1VE3N Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y1VE3N Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y1VE3N Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y1VE3N Craniopharyngioma 2F9A Orphanet 54595 TPD-Y1VE3N Cushing disease 5A70.0 Orphanet 96253 TPD-Y22GSG Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y232GE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y240KH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y240KH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y279WP Kennedy disease 8B61.4 Orphanet 481 TPD-Y279WP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y279WP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y279WP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y286NQ Kennedy disease 8B61.4 Orphanet 481 TPD-Y286NQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y286NQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y286NQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y28DUE Noonan syndrome LD2F.15 Orphanet 648 TPD-Y28DUE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y28DUE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y28DUE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y28DUE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y28DUE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y28DUE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y28DUE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y28DUE Craniopharyngioma 2F9A Orphanet 54595 TPD-Y28DUE Cushing disease 5A70.0 Orphanet 96253 TPD-Y295EJ Knobloch syndrome LD2F.1Y Orphanet 1571 TPD-Y2C869 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y2DF95 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y2E838 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-Y2E838 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-Y2E838 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-Y2E838 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-Y2E838 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-Y2E838 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-Y2E838 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y2E838 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-Y2E838 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Y2HK3K Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y2JJ39 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y2JJ39 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y2JJ39 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y2JJ39 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y2JJ39 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y2JJ39 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y2JJ39 Lynch syndrome 2B90.Y Orphanet 144 TPD-Y2JJ39 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y2JJ39 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y2KT71 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y2L4KH Noonan syndrome LD2F.15 Orphanet 648 TPD-Y2L4KH Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y2L4KH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y2L4KH Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y2L4KH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y2L4KH Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y2L4KH Lynch syndrome 2B90.Y Orphanet 144 TPD-Y2L4KH Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y2L4KH Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y2QIQT Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y2VINU CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y2ZG9S Noonan syndrome LD2F.15 Orphanet 648 TPD-Y2ZG9S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y2ZG9S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y2ZG9S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y2ZG9S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y2ZG9S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y2ZG9S Lynch syndrome 2B90.Y Orphanet 144 TPD-Y2ZG9S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y2ZG9S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y32ZLH Kennedy disease 8B61.4 Orphanet 481 TPD-Y32ZLH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y32ZLH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y32ZLH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y34F2I Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y37WXC Kennedy disease 8B61.4 Orphanet 481 TPD-Y37WXC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y37WXC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y37WXC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y37Y2B Kennedy disease 8B61.4 Orphanet 481 TPD-Y37Y2B Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y37Y2B Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y37Y2B Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y39PJ2 Kennedy disease 8B61.4 Orphanet 481 TPD-Y39PJ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y39PJ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y39PJ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y3FFKE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y3FSRV Noonan syndrome LD2F.15 Orphanet 648 TPD-Y3FSRV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y3FSRV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y3FSRV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y3FSRV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y3FSRV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y3FSRV Lynch syndrome 2B90.Y Orphanet 144 TPD-Y3FSRV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y3FSRV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y3HBOY Kennedy disease 8B61.4 Orphanet 481 TPD-Y3HBOY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y3HBOY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y3HBOY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y3HBRH CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y3HWQO Retinitis pigmentosa 9B70 Orphanet 791 TPD-Y3IMPJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y3IMPJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y3IMPJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y3OHUP Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-Y3OHUP Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-Y3OHUP Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-Y3OHUP Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-Y3OHUP Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-Y3OHUP Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-Y3OHUP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y3OHUP Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-Y3OHUP Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Y3OM7A Noonan syndrome LD2F.15 Orphanet 648 TPD-Y3OM7A Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y3OM7A Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y3OM7A Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y3OM7A Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y3OM7A Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y3OM7A Lynch syndrome 2B90.Y Orphanet 144 TPD-Y3OM7A Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y3OM7A Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y3PX8O Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-Y3PX8O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y3PX8O Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Y3PX8O Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-Y3PX8O MODY 5A13.6 Orphanet 552 TPD-Y3PX8O Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-Y3PX8O Early-onset nuclear cataract LA12.1 Orphanet 98991 TPD-Y3PX8O Total early-onset cataract LA12.1 Orphanet 98994 TPD-Y3PX8O Early-onset posterior polar cataract LA12.1 Orphanet 98993 TPD-Y3PX8O Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-Y3PX8O Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-Y3PX8O 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-Y3PX8O 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-Y3PX8O Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-Y3PX8O Frontometaphyseal dysplasia LD25.1 Orphanet 1826 TPD-Y3PX8O Cardiospondylocarpofacial syndrome LD2H.Y Orphanet 3238 TPD-Y3PX8O Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-Y3PX8O Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-Y3VZRW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y3VZRW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y3VZRW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y3VZRW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y3X40D Noonan syndrome LD2F.15 Orphanet 648 TPD-Y3X40D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y3X40D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y3X40D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y3X40D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y3X40D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y3X40D Lynch syndrome 2B90.Y Orphanet 144 TPD-Y3X40D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y3X40D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y3XUA5 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y3XUA5 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y3XUA5 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y3XUA5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y3XUA5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y3XUA5 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y3XUA5 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y3XUA5 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y3XUA5 Craniopharyngioma 2F9A Orphanet 54595 TPD-Y3XUA5 Cushing disease 5A70.0 Orphanet 96253 TPD-Y3Z06F X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y3Z06F Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y3Z2KZ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y41IQ0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y42VU5 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y42VU5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y42VU5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y42VU5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y42VU5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y42VU5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y42VU5 Lynch syndrome 2B90.Y Orphanet 144 TPD-Y42VU5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y42VU5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y4431J Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y451PI Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y451PI Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y48ASE Kennedy disease 8B61.4 Orphanet 481 TPD-Y48ASE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y48ASE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y48ASE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y49SGT Kennedy disease 8B61.4 Orphanet 481 TPD-Y49SGT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y49SGT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y49SGT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y4D30M Noonan syndrome LD2F.15 Orphanet 648 TPD-Y4D30M Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y4D30M Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y4D30M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y4D30M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y4D30M Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y4D30M Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y4D30M Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y4D30M Craniopharyngioma 2F9A Orphanet 54595 TPD-Y4D30M Cushing disease 5A70.0 Orphanet 96253 TPD-Y4ECOE Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y4ECOE Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y4ECOE Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y4FKUW Noonan syndrome LD2F.15 Orphanet 648 TPD-Y4FKUW Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y4FKUW Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y4FKUW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y4FKUW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y4FKUW Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y4FKUW Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y4FKUW Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y4FKUW Craniopharyngioma 2F9A Orphanet 54595 TPD-Y4FKUW Cushing disease 5A70.0 Orphanet 96253 TPD-Y4KSIY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y4KSIY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y4ODIZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y4ODIZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y4OSY0 Kennedy disease 8B61.4 Orphanet 481 TPD-Y4OSY0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y4OSY0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y4OSY0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y4P0IL Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-Y4P0IL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-Y4P3E1 Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-Y4P3E1 Williams syndrome LD44.70 Orphanet 904 TPD-Y4S058 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y4S058 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y4S058 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y4S058 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y4S058 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y4S058 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y4S058 Lynch syndrome 2B90.Y Orphanet 144 TPD-Y4S058 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y4S058 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y4TQDS Kennedy disease 8B61.4 Orphanet 481 TPD-Y4TQDS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y4TQDS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y4TQDS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y4USCF Kennedy disease 8B61.4 Orphanet 481 TPD-Y4USCF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y4USCF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y4USCF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y4ZBFR Noonan syndrome LD2F.15 Orphanet 648 TPD-Y4ZBFR Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Y53DIH Achondroplasia LD24.00 Orphanet 15 TPD-Y53DIH Hypochondroplasia LD24.01 Orphanet 429 TPD-Y53DIH Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-Y53DIH Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-Y53DIH Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-Y53DIH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y53DIH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y53DIH Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-Y53DIH Muenke syndrome LD24.GY Orphanet 53271 TPD-Y53DIH Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-Y53DIH Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-Y53DIH Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-Y54EPA Kennedy disease 8B61.4 Orphanet 481 TPD-Y54EPA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y54EPA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y54EPA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y54Y9K Noonan syndrome LD2F.15 Orphanet 648 TPD-Y54Y9K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y54Y9K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y54Y9K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y54Y9K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y54Y9K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y54Y9K Lynch syndrome 2B90.Y Orphanet 144 TPD-Y54Y9K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y54Y9K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y56PZS Kennedy disease 8B61.4 Orphanet 481 TPD-Y56PZS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y56PZS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y56PZS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y56URF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y56URF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y56URF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y582QR Weaver syndrome LD2C Orphanet 3447 TPD-Y5BTRY CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y5ERNT Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y5ERNT Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y5ERNT Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y5F8PJ Growth delay due to insulin-like growth factor I resistance 5A61.0 Orphanet 73273 TPD-Y5F8PJ Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-Y5HPPI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y5HPPI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y5I5HS Kennedy disease 8B61.4 Orphanet 481 TPD-Y5I5HS Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y5I5HS Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y5I5HS Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y5JHOF Familial melanoma QC61.Y Orphanet 618 TPD-Y5JHOF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y5MR4E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y5MR4E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y5MR4E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y5MR4E B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y5OPCP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y5OPCP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y5OPCP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y5PIFG Noonan syndrome LD2F.15 Orphanet 648 TPD-Y5PIFG Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Y5THPK Kennedy disease 8B61.4 Orphanet 481 TPD-Y5THPK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y5THPK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y5THPK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y5WJK8 Kennedy disease 8B61.4 Orphanet 481 TPD-Y5WJK8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y5WJK8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y5WJK8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y5X3RC Kennedy disease 8B61.4 Orphanet 481 TPD-Y5X3RC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y5X3RC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y5X3RC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y601GS CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y62IQ3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y62IQ3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y64NZY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y66OH2 Familial melanoma QC61.Y Orphanet 618 TPD-Y66OH2 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y6FS5C Kennedy disease 8B61.4 Orphanet 481 TPD-Y6FS5C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y6FS5C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y6FS5C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y6GXTQ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y6GXTQ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y6GXTQ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y6HVAL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y6HVAL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y6KE6M Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-Y6LOYZ Kennedy disease 8B61.4 Orphanet 481 TPD-Y6LOYZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y6LOYZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y6LOYZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y6N6FK Kennedy disease 8B61.4 Orphanet 481 TPD-Y6N6FK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y6N6FK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y6N6FK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y6R9G6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y6R9G6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y6R9G6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y6R9G6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y6RI4R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y6RZPX Kennedy disease 8B61.4 Orphanet 481 TPD-Y6RZPX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y6RZPX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y6RZPX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y6SXCI Familial melanoma QC61.Y Orphanet 618 TPD-Y6SXCI Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y6T5O2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y6T5O2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y6T85M Kennedy disease 8B61.4 Orphanet 481 TPD-Y6T85M Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y6T85M Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y6T85M Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y6UCGA Noonan syndrome LD2F.15 Orphanet 648 TPD-Y6UCGA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y6UCGA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y6UCGA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y6UCGA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y6UCGA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y6UCGA Lynch syndrome 2B90.Y Orphanet 144 TPD-Y6UCGA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y6UCGA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y6WNTC Noonan syndrome LD2F.15 Orphanet 648 TPD-Y6WNTC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y6WNTC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y6WNTC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y6WNTC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y6WNTC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y6WNTC Lynch syndrome 2B90.Y Orphanet 144 TPD-Y6WNTC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y6WNTC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y6Y6LY Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y6Y6LY Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y70HLN Noonan syndrome LD2F.15 Orphanet 648 TPD-Y70HLN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Y70R2J Kennedy disease 8B61.4 Orphanet 481 TPD-Y70R2J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y70R2J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y70R2J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y74JVP Kennedy disease 8B61.4 Orphanet 481 TPD-Y74JVP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y74JVP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y74JVP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y76WXB CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y76XZZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y796RG Kennedy disease 8B61.4 Orphanet 481 TPD-Y796RG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y796RG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y796RG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y798LW X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y798LW Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y7A93K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y7A93K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y7A93K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y7A93K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y7A96N Familial melanoma QC61.Y Orphanet 618 TPD-Y7A96N Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y7AGNH Familial melanoma QC61.Y Orphanet 618 TPD-Y7AGNH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y7IW8P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y7IW8P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y7IW8P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y7JGZ2 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y7JGZ2 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y7KZUT Kennedy disease 8B61.4 Orphanet 481 TPD-Y7KZUT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y7KZUT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y7KZUT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y7NOCC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y7NOCC Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y7QO6T Kennedy disease 8B61.4 Orphanet 481 TPD-Y7QO6T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y7QO6T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y7QO6T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y7R2LO Familial melanoma QC61.Y Orphanet 618 TPD-Y7R2LO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y7UAA2 Kennedy disease 8B61.4 Orphanet 481 TPD-Y7UAA2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y7UAA2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y7UAA2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y7VABJ Noonan syndrome LD2F.15 Orphanet 648 TPD-Y7VABJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y7VABJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Y7VABJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y7VABJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y7VABJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Y7VABJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Y7VABJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Y7VABJ Craniopharyngioma 2F9A Orphanet 54595 TPD-Y7VABJ Cushing disease 5A70.0 Orphanet 96253 TPD-Y7VG5S Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y7VG5S Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y7VG5S Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y7VTIX Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y7YDZL Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-Y7YDZL Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-Y7YDZL Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-Y84FO8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y866J5 Kennedy disease 8B61.4 Orphanet 481 TPD-Y866J5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y866J5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y866J5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y86TKW Kennedy disease 8B61.4 Orphanet 481 TPD-Y86TKW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y86TKW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y86TKW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y86YIK Kennedy disease 8B61.4 Orphanet 481 TPD-Y86YIK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y86YIK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y86YIK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y8IEO4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y8IEO4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y8IEO4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y8IEO4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Y8IEO4 Neuroblastoma 2A00.11 Orphanet 635 TPD-Y8IEO4 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-Y8IEO4 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-Y8IEO4 ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-Y8IEO4 Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-Y8JFQP Kennedy disease 8B61.4 Orphanet 481 TPD-Y8JFQP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y8JFQP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y8JFQP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y8LJTC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y8LJTC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y8MU3M Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-Y8QZZP Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-Y8QZZP Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-Y8QZZP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y8QZZP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y8QZZP Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-Y8QZZP Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-Y8UGOS Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-Y8VC4C Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Y8VLYY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y8VLYY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y8VLYY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y91YXC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y91YXC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y91YXC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y92RPN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-Y96D4F Kennedy disease 8B61.4 Orphanet 481 TPD-Y96D4F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y96D4F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y96D4F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y988UK Noonan syndrome LD2F.15 Orphanet 648 TPD-Y988UK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y988UK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y988UK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y988UK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y988UK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y988UK Lynch syndrome 2B90.Y Orphanet 144 TPD-Y988UK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y988UK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y98TTY Noonan syndrome LD2F.15 Orphanet 648 TPD-Y98TTY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y98TTY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y98TTY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y98TTY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y98TTY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y98TTY Lynch syndrome 2B90.Y Orphanet 144 TPD-Y98TTY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y98TTY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y99JUC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y9BUOH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y9BUOH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y9CDFN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y9CDFN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y9D6IU Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y9DIM7 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y9DIM7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y9DIM7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y9DIM7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y9DIM7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y9DIM7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y9DIM7 Lynch syndrome 2B90.Y Orphanet 144 TPD-Y9DIM7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y9DIM7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y9DNE5 Huntington disease 8A01.10 Orphanet 399 TPD-Y9FN39 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Y9FN39 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Y9FN39 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Y9FN39 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Y9HLXN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Y9HLXN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Y9HLXN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Y9I4FN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Y9I4FN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Y9J4R5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Y9J4R5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Y9KKJ3 Kennedy disease 8B61.4 Orphanet 481 TPD-Y9KKJ3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y9KKJ3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y9KKJ3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y9LQOC Kennedy disease 8B61.4 Orphanet 481 TPD-Y9LQOC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Y9LQOC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Y9LQOC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Y9M0JL CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y9MZG6 Noonan syndrome LD2F.15 Orphanet 648 TPD-Y9MZG6 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y9MZG6 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y9MZG6 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y9MZG6 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y9MZG6 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y9MZG6 Lynch syndrome 2B90.Y Orphanet 144 TPD-Y9MZG6 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y9MZG6 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y9NA5P Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y9NA5P Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y9NA5P Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Y9NRCC Familial melanoma QC61.Y Orphanet 618 TPD-Y9NRCC Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y9PANF Noonan syndrome LD2F.15 Orphanet 648 TPD-Y9PANF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Y9PANF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Y9PANF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Y9PANF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Y9PANF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Y9PANF Lynch syndrome 2B90.Y Orphanet 144 TPD-Y9PANF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Y9PANF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Y9QP05 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Y9VA36 Familial melanoma QC61.Y Orphanet 618 TPD-Y9VA36 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y9XT6C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Y9XT6C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Y9XT6C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YA1ANZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YA1ANZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YA1MCI Osteopetrosis with renal tubular acidosis LD24.10 Orphanet 2785 TPD-YA2U8Y X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YA2U8Y Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YA3EF5 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YA3EF5 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YA3EF5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YA3EF5 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YA6TI9 Noonan syndrome LD2F.15 Orphanet 648 TPD-YA6TI9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YA6TI9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YA6TI9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YA6TI9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YA6TI9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YA6TI9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YA6TI9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YA6TI9 Craniopharyngioma 2F9A Orphanet 54595 TPD-YA6TI9 Cushing disease 5A70.0 Orphanet 96253 TPD-YA70J0 Noonan syndrome LD2F.15 Orphanet 648 TPD-YA70J0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YA70J0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YA70J0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YA70J0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YA70J0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YA70J0 Lynch syndrome 2B90.Y Orphanet 144 TPD-YA70J0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YA70J0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YA8NHG Kennedy disease 8B61.4 Orphanet 481 TPD-YA8NHG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YA8NHG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YA8NHG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YABATP Familial melanoma QC61.Y Orphanet 618 TPD-YABATP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YAE3HA Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YAFMIB Kennedy disease 8B61.4 Orphanet 481 TPD-YAFMIB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YAFMIB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YAFMIB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YAL28A X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YAL28A Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YALVB9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YAMOFK Kennedy disease 8B61.4 Orphanet 481 TPD-YAMOFK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YAMOFK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YAMOFK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YANNI5 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-YAO9KF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YAOOLR Noonan syndrome LD2F.15 Orphanet 648 TPD-YAOOLR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YAOOLR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YAOOLR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YAOOLR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YAOOLR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YAOOLR Lynch syndrome 2B90.Y Orphanet 144 TPD-YAOOLR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YAOOLR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YAPZB1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YAPZB1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YB4EG0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YB4EG0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YBBGML Noonan syndrome LD2F.15 Orphanet 648 TPD-YBBGML Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YBBGML Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YBBGML Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YBBGML Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YBBGML Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YBBGML Lynch syndrome 2B90.Y Orphanet 144 TPD-YBBGML Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YBBGML Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YBIRXS Noonan syndrome LD2F.15 Orphanet 648 TPD-YBIRXS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YBIRXS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YBIRXS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YBIRXS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YBIRXS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YBIRXS Lynch syndrome 2B90.Y Orphanet 144 TPD-YBIRXS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YBIRXS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YBMOOR Noonan syndrome LD2F.15 Orphanet 648 TPD-YBMOOR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YBMOOR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YBMOOR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YBMOOR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YBMOOR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YBMOOR Lynch syndrome 2B90.Y Orphanet 144 TPD-YBMOOR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YBMOOR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YBPR3I Kennedy disease 8B61.4 Orphanet 481 TPD-YBPR3I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YBPR3I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YBPR3I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YBTCKF Familial melanoma QC61.Y Orphanet 618 TPD-YBTCKF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YBTUHA Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YBTUHA Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YBTUHA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YBTUHA B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YBWUDJ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YBWUDJ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YBWUDJ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YBZV2B Familial melanoma QC61.Y Orphanet 618 TPD-YC2BN5 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-YC2H12 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YC2H12 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YC5F4J Kennedy disease 8B61.4 Orphanet 481 TPD-YC5F4J Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YC5F4J Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YC5F4J Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YC8CPZ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YC8CPZ Neuroblastoma 2A00.11 Orphanet 635 TPD-YC8CPZ Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-YC8CPZ ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-YC8CPZ ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-YCAIPE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YCDZWJ Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-YCDZWJ Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-YCDZWJ Primary myelofibrosis 2A20.2 Orphanet 824 TPD-YCDZWJ Polycythemia vera 2A20.4 Orphanet 729 TPD-YCDZWJ Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-YCDZWJ Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-YCKO53 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YCMWU3 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YCMWU3 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YCNPMZ Noonan syndrome LD2F.15 Orphanet 648 TPD-YCNPMZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YCNPMZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YCNPMZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YCNPMZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YCNPMZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YCNPMZ Lynch syndrome 2B90.Y Orphanet 144 TPD-YCNPMZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YCNPMZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YCRMYD Kennedy disease 8B61.4 Orphanet 481 TPD-YCRMYD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YCRMYD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YCRMYD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YCS3CX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YCS3CX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YCTBHB Familial melanoma QC61.Y Orphanet 618 TPD-YCTBHB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YCYADA Kennedy disease 8B61.4 Orphanet 481 TPD-YCYADA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YCYADA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YCYADA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YCYCXE Noonan syndrome LD2F.15 Orphanet 648 TPD-YCYCXE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YCYCXE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YCYCXE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YCYCXE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YCYCXE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YCYCXE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YCYCXE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YCYCXE Craniopharyngioma 2F9A Orphanet 54595 TPD-YCYCXE Cushing disease 5A70.0 Orphanet 96253 TPD-YCYGTP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YCYGTP Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YD11G2 Kennedy disease 8B61.4 Orphanet 481 TPD-YD11G2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YD11G2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YD11G2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YD26HL Noonan syndrome LD2F.15 Orphanet 648 TPD-YD26HL Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YD26HL Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YD26HL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YD26HL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YD26HL Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YD26HL Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YD26HL Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YD26HL Craniopharyngioma 2F9A Orphanet 54595 TPD-YD26HL Cushing disease 5A70.0 Orphanet 96253 TPD-YD2SQC Noonan syndrome LD2F.15 Orphanet 648 TPD-YD2SQC Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YD2SQC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YD2SQC Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YD2SQC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YD2SQC Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YD2SQC Lynch syndrome 2B90.Y Orphanet 144 TPD-YD2SQC Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YD2SQC Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YD2SWH Kennedy disease 8B61.4 Orphanet 481 TPD-YD2SWH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YD2SWH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YD2SWH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YD5FO0 Kennedy disease 8B61.4 Orphanet 481 TPD-YD5FO0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YD5FO0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YD5FO0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YD77SS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YD77SS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YD77SS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YD77SS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YD7A6T Kennedy disease 8B61.4 Orphanet 481 TPD-YD7A6T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YD7A6T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YD7A6T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YDAQS8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YDC7C4 Familial melanoma QC61.Y Orphanet 618 TPD-YDC7C4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YDCPOT Kennedy disease 8B61.4 Orphanet 481 TPD-YDCPOT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YDCPOT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YDCPOT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YDII27 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YDII27 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YDJALG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YDJALG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YDJALG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YDJC71 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YDJC71 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YDJC71 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YDJC71 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YDK41J CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YDNCYO Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YDNCYO Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YDNCYO Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YDOPHF Noonan syndrome LD2F.15 Orphanet 648 TPD-YDOPHF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-YDOSC4 Noonan syndrome LD2F.15 Orphanet 648 TPD-YDOSC4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YDOSC4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YDOSC4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YDOSC4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YDOSC4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YDOSC4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YDOSC4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YDOSC4 Craniopharyngioma 2F9A Orphanet 54595 TPD-YDOSC4 Cushing disease 5A70.0 Orphanet 96253 TPD-YDPLEA Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-YDPLEA Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-YDT73C Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YDT73C Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YDT73C B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YDT73C B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YDVJP8 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YDYLJH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YDYLJH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YDZ6E0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YE5YVD Noonan syndrome LD2F.15 Orphanet 648 TPD-YE5YVD Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YE5YVD Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YE5YVD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YE5YVD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YE5YVD Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YE5YVD Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YE5YVD Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YE5YVD Craniopharyngioma 2F9A Orphanet 54595 TPD-YE5YVD Cushing disease 5A70.0 Orphanet 96253 TPD-YEADPE Noonan syndrome LD2F.15 Orphanet 648 TPD-YEADPE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YEADPE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YEADPE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YEADPE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YEADPE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YEADPE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YEADPE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YEADPE Craniopharyngioma 2F9A Orphanet 54595 TPD-YEADPE Cushing disease 5A70.0 Orphanet 96253 TPD-YEBK6H Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YEDPQT Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YEDPQT Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YEDPQT B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YEDPQT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YEDVSU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YEDVSU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YEDVSU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YEEQXD Kennedy disease 8B61.4 Orphanet 481 TPD-YEEQXD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YEEQXD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YEEQXD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YEGQCA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YEHJPE Noonan syndrome LD2F.15 Orphanet 648 TPD-YEHJPE Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-YEI6YE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YEI6YE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YEI6YE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YEJZ1F CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YEKK2E Noonan syndrome LD2F.15 Orphanet 648 TPD-YEKK2E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YEKK2E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YEKK2E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YEKK2E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YEKK2E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YEKK2E Lynch syndrome 2B90.Y Orphanet 144 TPD-YEKK2E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YEKK2E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YEM0YC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YEM0YC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YEM0YC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YEMNT1 Noonan syndrome LD2F.15 Orphanet 648 TPD-YEMNT1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YEMNT1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YEMNT1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YEMNT1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YEMNT1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YEMNT1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YEMNT1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YEMNT1 Craniopharyngioma 2F9A Orphanet 54595 TPD-YEMNT1 Cushing disease 5A70.0 Orphanet 96253 TPD-YEV0MC Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YEV0MC Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YEV0MC Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YEXZX0 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YEZ2VB Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YF0GM8 Cystic fibrosis CA25 Orphanet 586 TPD-YF0GM8 Systemic-onset juvenile idiopathic arthritis FA24.4 Orphanet 85414 TPD-YF3SSQ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YF3SSQ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YF3SSQ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YF3SSQ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YF4UP8 Kennedy disease 8B61.4 Orphanet 481 TPD-YF4UP8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YF4UP8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YF4UP8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YF8838 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YF8838 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YF8838 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YFETI4 Kennedy disease 8B61.4 Orphanet 481 TPD-YFETI4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YFETI4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YFETI4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YFJ0DJ Kennedy disease 8B61.4 Orphanet 481 TPD-YFJ0DJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YFJ0DJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YFJ0DJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YFJF4S Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YFJF4S Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YFJF4S B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YFJF4S B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YFJKH3 Noonan syndrome LD2F.15 Orphanet 648 TPD-YFJKH3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YFJKH3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YFJKH3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YFJKH3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YFJKH3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YFJKH3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YFJKH3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YFJKH3 Craniopharyngioma 2F9A Orphanet 54595 TPD-YFJKH3 Cushing disease 5A70.0 Orphanet 96253 TPD-YFLW7V Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YFLW7V Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YFLW7V Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YFLWNK Kennedy disease 8B61.4 Orphanet 481 TPD-YFLWNK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YFLWNK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YFLWNK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YFNI3S CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YFPTTE Noonan syndrome LD2F.15 Orphanet 648 TPD-YFPTTE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YFPTTE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YFPTTE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YFPTTE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YFPTTE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YFPTTE Lynch syndrome 2B90.Y Orphanet 144 TPD-YFPTTE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YFPTTE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YFQZ6W Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-YFQZ6W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YFQZ6W Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YFSNHR Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YFSNHR Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YFSNHR B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YFSNHR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YFSVAP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YFSZRM Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-YFSZRM MODY 5A13.6 Orphanet 552 TPD-YFSZRM Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-YFSZRM Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-YFT9QN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YFT9QN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YFWVPC Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YFWVPC Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YFWVPC Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YFZ6J7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YG8QE8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YG8QE8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YG8QE8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YG8QE8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YGB40H Kennedy disease 8B61.4 Orphanet 481 TPD-YGB40H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YGB40H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YGB40H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YGCFYS Noonan syndrome LD2F.15 Orphanet 648 TPD-YGCFYS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YGCFYS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YGCFYS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YGCFYS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YGCFYS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YGCFYS Lynch syndrome 2B90.Y Orphanet 144 TPD-YGCFYS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YGCFYS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YGCVVZ Weaver syndrome LD2C Orphanet 3447 TPD-YGD5OY Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-YGEAKL Noonan syndrome LD2F.15 Orphanet 648 TPD-YGEAKL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YGEAKL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YGEAKL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YGEAKL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YGEAKL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YGEAKL Lynch syndrome 2B90.Y Orphanet 144 TPD-YGEAKL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YGEAKL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YGEWCI Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YGHJJ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YGLQLM Familial melanoma QC61.Y Orphanet 618 TPD-YGLQLM Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YGNW52 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YGNW52 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YGNW52 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YGNW52 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YGP1ZF Hirschsprung disease LB16.1 Orphanet 388 TPD-YGP1ZF Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-YGP1ZF Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-YGQ0E8 Kennedy disease 8B61.4 Orphanet 481 TPD-YGQ0E8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YGQ0E8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YGQ0E8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YGT4YS Noonan syndrome LD2F.15 Orphanet 648 TPD-YGT4YS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YGT4YS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YGT4YS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YGT4YS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YGT4YS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YGT4YS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YGT4YS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YGT4YS Craniopharyngioma 2F9A Orphanet 54595 TPD-YGT4YS Cushing disease 5A70.0 Orphanet 96253 TPD-YGURGN Kennedy disease 8B61.4 Orphanet 481 TPD-YGURGN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YGURGN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YGURGN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YGZBF8 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YGZBF8 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YGZBF8 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YGZBF8 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YH0DBK Noonan syndrome LD2F.15 Orphanet 648 TPD-YH0DBK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YH0DBK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YH0DBK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YH0DBK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YH0DBK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YH0DBK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YH0DBK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YH0DBK Craniopharyngioma 2F9A Orphanet 54595 TPD-YH0DBK Cushing disease 5A70.0 Orphanet 96253 TPD-YH2U1M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YH2U1M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YH8VNE Noonan syndrome LD2F.15 Orphanet 648 TPD-YH8VNE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YH8VNE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YH8VNE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YH8VNE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YH8VNE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YH8VNE Lynch syndrome 2B90.Y Orphanet 144 TPD-YH8VNE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YH8VNE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YHGDKG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YHGDKG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YHXLMI Noonan syndrome LD2F.15 Orphanet 648 TPD-YHXLMI Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-YHZN6I Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-YHZN6I Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-YHZN6I Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-YHZN6I Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-YHZN6I Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-YHZN6I Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-YHZN6I B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YHZN6I Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-YHZN6I Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YI0QJ0 Familial melanoma QC61.Y Orphanet 618 TPD-YI13XV Familial melanoma QC61.Y Orphanet 618 TPD-YI13XV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YI303K Noonan syndrome LD2F.15 Orphanet 648 TPD-YI303K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YI303K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YI303K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YI303K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YI303K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YI303K Lynch syndrome 2B90.Y Orphanet 144 TPD-YI303K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YI303K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YIAEEH Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-YIAEEH Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-YIAEEH Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-YIAEEH Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-YIAEEH Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-YIAEEH Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-YIAEEH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YIAEEH Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-YIAEEH Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YIAJVM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YIAJVM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YICM0P Noonan syndrome LD2F.15 Orphanet 648 TPD-YICM0P Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YICM0P Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YICM0P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YICM0P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YICM0P Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YICM0P Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YICM0P Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YICM0P Craniopharyngioma 2F9A Orphanet 54595 TPD-YICM0P Cushing disease 5A70.0 Orphanet 96253 TPD-YICUHL X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YICUHL Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YIDES9 Kennedy disease 8B61.4 Orphanet 481 TPD-YIDES9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YIDES9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YIDES9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YIHJIN Noonan syndrome LD2F.15 Orphanet 648 TPD-YIHJIN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YIHJIN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YIHJIN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YIHJIN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YIHJIN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YIHJIN Lynch syndrome 2B90.Y Orphanet 144 TPD-YIHJIN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YIHJIN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YIHOD2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YIITA5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YIITA5 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YILHH8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YILHH8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YIO80O Noonan syndrome LD2F.15 Orphanet 648 TPD-YIO80O Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YIO80O Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YIO80O Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YIO80O Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YIO80O Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YIO80O Lynch syndrome 2B90.Y Orphanet 144 TPD-YIO80O Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YIO80O Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YIP31Y Kennedy disease 8B61.4 Orphanet 481 TPD-YIP31Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YIP31Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YIP31Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YIQ4VW Kennedy disease 8B61.4 Orphanet 481 TPD-YIQ4VW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YIQ4VW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YIQ4VW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YISZP2 Kennedy disease 8B61.4 Orphanet 481 TPD-YISZP2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YISZP2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YISZP2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YIVIBV CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YJ0K0L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YJ0K0L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YJ0K0L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YJ0K0L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YJAE8Q Kennedy disease 8B61.4 Orphanet 481 TPD-YJAE8Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YJAE8Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YJAE8Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YJANWL Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YJANWL Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YJCJ2W X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YJCJ2W Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YJGCBK Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YJGCBK Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YJGCBK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YJGCBK B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YJIKK4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YJIKK4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YJJ99X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YJJ99X Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YJMA73 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YJMKOZ Noonan syndrome LD2F.15 Orphanet 648 TPD-YJMKOZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YJMKOZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YJMKOZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YJMKOZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YJMKOZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YJMKOZ Lynch syndrome 2B90.Y Orphanet 144 TPD-YJMKOZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YJMKOZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YJROBF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YJUCUP Kennedy disease 8B61.4 Orphanet 481 TPD-YJUCUP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YJUCUP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YJUCUP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YJVCSV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YJVCSV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YJVCSV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YJVCSV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YJWT4J Noonan syndrome LD2F.15 Orphanet 648 TPD-YJWT4J Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YJWT4J Metachondromatosis LD24.2Y Orphanet 2499 TPD-YJWT4J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YJYX33 Noonan syndrome LD2F.15 Orphanet 648 TPD-YJYX33 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YJYX33 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YJYX33 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YJYX33 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YJYX33 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YJYX33 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YJYX33 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YJYX33 Craniopharyngioma 2F9A Orphanet 54595 TPD-YJYX33 Cushing disease 5A70.0 Orphanet 96253 TPD-YJYX33 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-YJZ0S9 Familial melanoma QC61.Y Orphanet 618 TPD-YJZ0S9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YJZ24E Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YK0NWF Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-YK0WBI Noonan syndrome LD2F.15 Orphanet 648 TPD-YK0WBI Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YK0WBI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YK0WBI Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YK0WBI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YK0WBI Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YK0WBI Lynch syndrome 2B90.Y Orphanet 144 TPD-YK0WBI Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YK0WBI Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YK10DU Noonan syndrome LD2F.15 Orphanet 648 TPD-YK10DU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YK10DU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YK10DU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YK10DU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YK10DU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YK10DU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YK10DU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YK10DU Craniopharyngioma 2F9A Orphanet 54595 TPD-YK10DU Cushing disease 5A70.0 Orphanet 96253 TPD-YK3D01 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YK4OVR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YK6R4W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YK84S3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YK84S3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YK84S3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YK84S3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YKBM1T Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YKBM1T Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YKIZ6D Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-YKIZ6D Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-YKIZ6D Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-YKIZ6D Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-YKIZ6D Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-YKIZ6D Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-YKIZ6D Semantic dementia 6D83 Orphanet 100069 TPD-YKIZ6D Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-YKL4QF Kennedy disease 8B61.4 Orphanet 481 TPD-YKL4QF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YKL4QF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YKL4QF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YKOAJT Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-YKOAJT Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-YKOAJT Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 2A52 Orphanet 168953 TPD-YKOAJT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YKOAJT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YKOAJT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YKOAJT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YKOAJT Osteoglosphonic dysplasia LD24.2Y Orphanet 2645 TPD-YKOAJT Non-syndromic metopic craniosynostosis LB70.0Y Orphanet 3366 TPD-YKOAJT Septo-optic dysplasia spectrum 5A61.0 Orphanet 3157 TPD-YKOAJT Microform holoprosencephaly LA05.2 Orphanet 280200 TPD-YKOAJT Kallmann syndrome 5A61.2 Orphanet 478 TPD-YKOAJT Semilobar holoprosencephaly LA05.2 Orphanet 220386 TPD-YKOAJT Normosmic congenital hypogonadotropic hypogonadism 5A61.0 Orphanet 432 TPD-YKOAJT Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-YKOAJT Lobar holoprosencephaly LA05.2 Orphanet 93924 TPD-YKOAJT Oligodontia LA30.2 Orphanet 99798 TPD-YKOAJT Seckel syndrome LD24.D Orphanet 808 TPD-YKOAJT Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-YKOPSV Kennedy disease 8B61.4 Orphanet 481 TPD-YKOPSV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YKOPSV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YKOPSV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YKQD0F Kennedy disease 8B61.4 Orphanet 481 TPD-YKQD0F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YKQD0F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YKQD0F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YKRJNH X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YKRJNH Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YKVB7I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YKVB7I Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YKYBN7 Noonan syndrome LD2F.15 Orphanet 648 TPD-YKYBN7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YKYBN7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YKYBN7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YKYBN7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YKYBN7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YKYBN7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YKYBN7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YKYBN7 Craniopharyngioma 2F9A Orphanet 54595 TPD-YKYBN7 Cushing disease 5A70.0 Orphanet 96253 TPD-YKYBN7 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-YKZPYT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YKZPYT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YKZU4I Noonan syndrome LD2F.15 Orphanet 648 TPD-YKZU4I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YKZU4I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YKZU4I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YKZU4I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YKZU4I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YKZU4I Lynch syndrome 2B90.Y Orphanet 144 TPD-YKZU4I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YKZU4I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YL10PI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YL10PI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YL2AAA Kennedy disease 8B61.4 Orphanet 481 TPD-YL2AAA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YL2AAA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YL2AAA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YL2FWD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YL2FWD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YL2FWD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YL2FWD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YL9ZLP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YL9ZLP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YL9ZLP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YL9ZLP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YLA3ZB Kennedy disease 8B61.4 Orphanet 481 TPD-YLA3ZB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YLA3ZB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YLA3ZB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YLC0Z0 Noonan syndrome LD2F.15 Orphanet 648 TPD-YLC0Z0 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YLC0Z0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YLC0Z0 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YLC0Z0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YLC0Z0 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YLC0Z0 Lynch syndrome 2B90.Y Orphanet 144 TPD-YLC0Z0 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YLC0Z0 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YLC7OU Kennedy disease 8B61.4 Orphanet 481 TPD-YLC7OU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YLC7OU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YLC7OU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YLFNFJ Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-YLFNFJ Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-YLFNFJ Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-YLFNFJ Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-YLFNFJ Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-YLFNFJ Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-YLFNFJ Semantic dementia 6D83 Orphanet 100069 TPD-YLFNFJ Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-YLIC6B CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YLINKF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YLKHCU Familial melanoma QC61.Y Orphanet 618 TPD-YLKHCU Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YLLPWW Noonan syndrome LD2F.15 Orphanet 648 TPD-YLLPWW Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YLLPWW Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YLLPWW Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YLLPWW Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YLLPWW Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YLLPWW Lynch syndrome 2B90.Y Orphanet 144 TPD-YLLPWW Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YLLPWW Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YLPTMF Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-YLPTMF Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-YLTNZY Noonan syndrome LD2F.15 Orphanet 648 TPD-YLTNZY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YLTNZY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YLTNZY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YLTNZY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YLTNZY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YLTNZY Lynch syndrome 2B90.Y Orphanet 144 TPD-YLTNZY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YLTNZY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YLUB1L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YLUB1L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YLUB1L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YLUB1L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YLZ3WT Kennedy disease 8B61.4 Orphanet 481 TPD-YLZ3WT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YLZ3WT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YLZ3WT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YLZVOP Noonan syndrome LD2F.15 Orphanet 648 TPD-YLZVOP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YLZVOP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YLZVOP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YLZVOP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YLZVOP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YLZVOP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YLZVOP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YLZVOP Craniopharyngioma 2F9A Orphanet 54595 TPD-YLZVOP Cushing disease 5A70.0 Orphanet 96253 TPD-YM3LZU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YM3LZU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YM4J02 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YM4J02 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YM5BL6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YME6DU Kennedy disease 8B61.4 Orphanet 481 TPD-YME6DU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YME6DU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YME6DU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YMG9SD Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YMG9SD Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YMG9SD Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YMI14Q Familial melanoma QC61.Y Orphanet 618 TPD-YMI14Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YMRMU4 Kennedy disease 8B61.4 Orphanet 481 TPD-YMRMU4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YMRMU4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YMRMU4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YMTA9F Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YMTA9F Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YMUYD4 Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-YMUYD4 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-YMUYD4 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-YMUYD4 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-YMUYD4 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-YMUYD4 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-YMUYD4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YMUYD4 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-YMUYD4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YMW5KA Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-YMYSXI Noonan syndrome LD2F.15 Orphanet 648 TPD-YMYSXI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YMYSXI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YMYSXI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YMYSXI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YMYSXI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YMYSXI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YMYSXI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YMYSXI Craniopharyngioma 2F9A Orphanet 54595 TPD-YMYSXI Cushing disease 5A70.0 Orphanet 96253 TPD-YN2QQT Kennedy disease 8B61.4 Orphanet 481 TPD-YN2QQT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YN2QQT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YN2QQT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YN32QW CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YNA8T6 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YNA8T6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YNC6V5 Kennedy disease 8B61.4 Orphanet 481 TPD-YNC6V5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YNC6V5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YNC6V5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YNCDEG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YNCDEG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YNCDEG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YNCDEG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YNEBZL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YNHJGS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-YNHJGS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-YNHJGS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-YNHJGS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-YNHJGS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-YNHJGS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-YNHJGS Semantic dementia 6D83 Orphanet 100069 TPD-YNHJGS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-YNHRDP Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YNHRDP Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YNHRDP Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YNIQFQ Noonan syndrome LD2F.15 Orphanet 648 TPD-YNIQFQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YNIQFQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YNIQFQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YNIQFQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YNIQFQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YNIQFQ Lynch syndrome 2B90.Y Orphanet 144 TPD-YNIQFQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YNIQFQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YNJ821 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YNJFPN Noonan syndrome LD2F.15 Orphanet 648 TPD-YNJFPN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YNJFPN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YNJFPN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YNJFPN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YNJFPN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YNJFPN Lynch syndrome 2B90.Y Orphanet 144 TPD-YNJFPN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YNJFPN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YNOXG4 Noonan syndrome LD2F.15 Orphanet 648 TPD-YNOXG4 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YNOXG4 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YNOXG4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YNOXG4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YNOXG4 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YNOXG4 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YNOXG4 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YNOXG4 Craniopharyngioma 2F9A Orphanet 54595 TPD-YNOXG4 Cushing disease 5A70.0 Orphanet 96253 TPD-YNWQW2 Kennedy disease 8B61.4 Orphanet 481 TPD-YNWQW2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YNWQW2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YNWQW2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YNWWPZ Kennedy disease 8B61.4 Orphanet 481 TPD-YNWWPZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YNWWPZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YNWWPZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YNYH3W Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YNYH3W Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YNYH3W B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YNYH3W B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YNYXQV Kennedy disease 8B61.4 Orphanet 481 TPD-YNYXQV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YNYXQV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YNYXQV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YNZ4P5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YO4SQ0 Kennedy disease 8B61.4 Orphanet 481 TPD-YO4SQ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YO4SQ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YO4SQ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YO76BA X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YO76BA Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YO7OMX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YO7OMX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YO7OMX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YO979L Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YO979L Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YO979L B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YO979L B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YO9W6X Kennedy disease 8B61.4 Orphanet 481 TPD-YO9W6X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YO9W6X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YO9W6X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YODJ9K Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YODJ9K Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YODJ9K Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YOEF7Y Noonan syndrome LD2F.15 Orphanet 648 TPD-YOEF7Y Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YOEF7Y Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YOEF7Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YOEF7Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YOEF7Y Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YOEF7Y Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YOEF7Y Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YOEF7Y Craniopharyngioma 2F9A Orphanet 54595 TPD-YOEF7Y Cushing disease 5A70.0 Orphanet 96253 TPD-YOEOBQ Kennedy disease 8B61.4 Orphanet 481 TPD-YOEOBQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YOEOBQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YOEOBQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YOLOP2 Kennedy disease 8B61.4 Orphanet 481 TPD-YOLOP2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YOLOP2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YOLOP2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YOP33B Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-YOPMZW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YOPMZW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YOPMZW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YOPMZW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YOSWL3 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-YOYH0Y Noonan syndrome LD2F.15 Orphanet 648 TPD-YOYH0Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YOYH0Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YOYH0Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YOYH0Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YOYH0Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YOYH0Y Lynch syndrome 2B90.Y Orphanet 144 TPD-YOYH0Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YOYH0Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YOYH4O Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YOYH4O Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YOYH4O B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YOYH4O B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YOZXFH Kennedy disease 8B61.4 Orphanet 481 TPD-YOZXFH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YOZXFH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YOZXFH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YP1OBQ Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-YP4ZLY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YP4ZLY Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YP4ZLY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YP5EDP Noonan syndrome LD2F.15 Orphanet 648 TPD-YP5EDP Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YP5EDP Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YP5EDP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YP5EDP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YP5EDP Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YP5EDP Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YP5EDP Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YP5EDP Craniopharyngioma 2F9A Orphanet 54595 TPD-YP5EDP Cushing disease 5A70.0 Orphanet 96253 TPD-YP64V4 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YP64V4 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YP64V4 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YP6NM8 Familial melanoma QC61.Y Orphanet 618 TPD-YP6NM8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YP95E6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YP95E6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YP95E6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YP95E6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YP99DY Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YP99DY Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YPB02X Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-YPBAXO CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YPBY07 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YPBY07 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YPBY07 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YPBY07 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YPE1RY Noonan syndrome LD2F.15 Orphanet 648 TPD-YPE1RY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YPE1RY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YPE1RY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YPE1RY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YPE1RY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YPE1RY Lynch syndrome 2B90.Y Orphanet 144 TPD-YPE1RY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YPE1RY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YPFNIZ Noonan syndrome LD2F.15 Orphanet 648 TPD-YPFNIZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YPFNIZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YPFNIZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YPFNIZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YPFNIZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YPFNIZ Lynch syndrome 2B90.Y Orphanet 144 TPD-YPFNIZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YPFNIZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YPGL86 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YPHSA9 Kennedy disease 8B61.4 Orphanet 481 TPD-YPHSA9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YPHSA9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YPHSA9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YPILVW Weaver syndrome LD2C Orphanet 3447 TPD-YPK78R Familial melanoma QC61.Y Orphanet 618 TPD-YPK78R Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YPKJWF Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YPKJWF Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YPP0L1 Kennedy disease 8B61.4 Orphanet 481 TPD-YPP0L1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YPP0L1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YPP0L1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YPQ1UV Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YPQ1UV Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YPTE64 Weaver syndrome LD2C Orphanet 3447 TPD-YPU1NC X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YPU1NC Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YPUG3I Kennedy disease 8B61.4 Orphanet 481 TPD-YPUG3I Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YPUG3I Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YPUG3I Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YPY2TV Familial melanoma QC61.Y Orphanet 618 TPD-YPY2TV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YPZT6A Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-YPZT6A AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-YPZT6A Hemimegalencephaly LA05.1 Orphanet 99802 TPD-YQ1Z7S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YQ1Z7S Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YQ1Z7S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YQ1ZHB Noonan syndrome LD2F.15 Orphanet 648 TPD-YQ1ZHB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YQ1ZHB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YQ1ZHB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YQ1ZHB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YQ1ZHB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YQ1ZHB Lynch syndrome 2B90.Y Orphanet 144 TPD-YQ1ZHB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YQ1ZHB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YQ5GU2 Class I glucose-6-phosphate dehydrogenase deficiency 3A10.00 Orphanet 466026 TPD-YQ7SOF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YQ7SOF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YQ7SOF Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YQ94R9 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-YQ9CB6 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YQ9CHR Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YQ9CHR Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YQ9CHR Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YQDVO1 Noonan syndrome LD2F.15 Orphanet 648 TPD-YQDVO1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YQDVO1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YQDVO1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YQDVO1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YQDVO1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YQDVO1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YQDVO1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YQDVO1 Craniopharyngioma 2F9A Orphanet 54595 TPD-YQDVO1 Cushing disease 5A70.0 Orphanet 96253 TPD-YQEMU9 Noonan syndrome LD2F.15 Orphanet 648 TPD-YQEMU9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YQEMU9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YQEMU9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YQEMU9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YQEMU9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YQEMU9 Lynch syndrome 2B90.Y Orphanet 144 TPD-YQEMU9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YQEMU9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YQHGI1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YQKZ5G Kennedy disease 8B61.4 Orphanet 481 TPD-YQKZ5G Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YQKZ5G Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YQKZ5G Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YQMTN4 Kennedy disease 8B61.4 Orphanet 481 TPD-YQMTN4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YQMTN4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YQMTN4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YQND6C Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YQND6C Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YQND6C Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YQOLGW Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YQOLGW Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YQX3C9 Familial melanoma QC61.Y Orphanet 618 TPD-YQX3C9 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YR4VER Kennedy disease 8B61.4 Orphanet 481 TPD-YR4VER Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YR4VER Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YR4VER Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YR8EZE Kennedy disease 8B61.4 Orphanet 481 TPD-YR8EZE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YR8EZE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YR8EZE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YR9V06 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YR9V06 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YR9V06 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YRB2RE Noonan syndrome LD2F.15 Orphanet 648 TPD-YRB2RE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YRB2RE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YRB2RE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YRB2RE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YRB2RE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YRB2RE Lynch syndrome 2B90.Y Orphanet 144 TPD-YRB2RE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YRB2RE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YRENF3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YRENF3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YRM8WT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YRM8WT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YROFGV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YROFGV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YROFGV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YROFGV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YRR9L7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YRR9L7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YRSX57 Familial melanoma QC61.Y Orphanet 618 TPD-YRSX57 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YRXZMA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YRXZMA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YS6L8Q Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-YS6L8Q Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-YS6L8Q Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YS6L8Q Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YS6L8Q Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-YS6L8Q Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-YSBESF Noonan syndrome LD2F.15 Orphanet 648 TPD-YSBESF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YSBESF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YSBESF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YSBESF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YSBESF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YSBESF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YSBESF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YSBESF Craniopharyngioma 2F9A Orphanet 54595 TPD-YSBESF Cushing disease 5A70.0 Orphanet 96253 TPD-YSBESF Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-YSCJ7U CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YSHHM5 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YSPMDA Noonan syndrome LD2F.15 Orphanet 648 TPD-YSPMDA Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YSPMDA Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YSPMDA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YSPMDA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YSPMDA Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YSPMDA Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YSPMDA Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YSPMDA Craniopharyngioma 2F9A Orphanet 54595 TPD-YSPMDA Cushing disease 5A70.0 Orphanet 96253 TPD-YSPT6S Noonan syndrome LD2F.15 Orphanet 648 TPD-YSPT6S Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YSPT6S Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YSPT6S Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YSPT6S Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YSPT6S Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YSPT6S Lynch syndrome 2B90.Y Orphanet 144 TPD-YSPT6S Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YSPT6S Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YSPYXC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YSXBNX Kennedy disease 8B61.4 Orphanet 481 TPD-YSXBNX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YSXBNX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YSXBNX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YSXZ4V CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YSYI4D Kennedy disease 8B61.4 Orphanet 481 TPD-YSYI4D Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YSYI4D Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YSYI4D Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YT3NEP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YT3NEP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YT3NEP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YT3NEP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YT4TAQ Kennedy disease 8B61.4 Orphanet 481 TPD-YT4TAQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YT4TAQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YT4TAQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YT5R9K Noonan syndrome LD2F.15 Orphanet 648 TPD-YT5R9K Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YT5R9K Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YT5R9K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YT5R9K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YT5R9K Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YT5R9K Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YT5R9K Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YT5R9K Craniopharyngioma 2F9A Orphanet 54595 TPD-YT5R9K Cushing disease 5A70.0 Orphanet 96253 TPD-YT6E3N Kennedy disease 8B61.4 Orphanet 481 TPD-YT6E3N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YT6E3N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YT6E3N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YT8HXC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YT942Y Noonan syndrome LD2F.15 Orphanet 648 TPD-YT942Y Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YT942Y Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YT942Y Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YT942Y Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YT942Y Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YT942Y Lynch syndrome 2B90.Y Orphanet 144 TPD-YT942Y Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YT942Y Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YTA7QZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YTBCR4 Kennedy disease 8B61.4 Orphanet 481 TPD-YTBCR4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YTBCR4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YTBCR4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YTCMLY Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-YTDVJ1 Kennedy disease 8B61.4 Orphanet 481 TPD-YTDVJ1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YTDVJ1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YTDVJ1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YTI99Q Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YTI99Q Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YTI99Q Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YTJRIG Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-YTNSLC Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YTO6Y4 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-YTO6Y4 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YTO6Y4 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-YTOFJP Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-YTOFJP Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-YTQJQ2 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YTRU9O X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YTRU9O Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YTUWF5 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YTUWF5 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YTVQ64 Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YTVQ64 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YTXJYB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YTXJYB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YTXJYB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YTXJYB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YTYEXZ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YTYEXZ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YTZJMN Noonan syndrome LD2F.15 Orphanet 648 TPD-YTZJMN Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YTZJMN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YTZJMN Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YTZJMN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YTZJMN Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YTZJMN Lynch syndrome 2B90.Y Orphanet 144 TPD-YTZJMN Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YTZJMN Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YU3JAU Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YU3JAU Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YU4S7I Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YU4S7I Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YU77OK Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YU870S Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YU870S Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YU97FX Weaver syndrome LD2C Orphanet 3447 TPD-YUB9GN Kennedy disease 8B61.4 Orphanet 481 TPD-YUB9GN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YUB9GN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YUB9GN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YUBTGJ Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YUBZYR CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YUHAYI Kennedy disease 8B61.4 Orphanet 481 TPD-YUHAYI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YUHAYI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YUHAYI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YUHWK7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YUHWK7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YUIG5Q Familial melanoma QC61.Y Orphanet 618 TPD-YUIG5Q Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YUIXU6 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-YUIXU6 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-YUKN2W Noonan syndrome LD2F.15 Orphanet 648 TPD-YUKN2W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YUKN2W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YUKN2W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YUKN2W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YUKN2W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YUKN2W Lynch syndrome 2B90.Y Orphanet 144 TPD-YUKN2W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YUKN2W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YUMIR3 Noonan syndrome LD2F.15 Orphanet 648 TPD-YUMIR3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YUMIR3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YUMIR3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YUMIR3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YUMIR3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YUMIR3 Lynch syndrome 2B90.Y Orphanet 144 TPD-YUMIR3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YUMIR3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YUPO2H Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-YUPO2H Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-YUPO2H Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-YUPO2H Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-YUPO2H Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-YUPO2H Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-YUPO2H B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YUPO2H Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-YUPO2H Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YURGEM Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-YUSG1X Noonan syndrome LD2F.15 Orphanet 648 TPD-YUSG1X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YUSG1X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YUSG1X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YUSG1X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YUSG1X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YUSG1X Lynch syndrome 2B90.Y Orphanet 144 TPD-YUSG1X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YUSG1X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YUTFNU Kennedy disease 8B61.4 Orphanet 481 TPD-YUTFNU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YUTFNU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YUTFNU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YUW156 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YUW156 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YUZOGC Noonan syndrome LD2F.15 Orphanet 648 TPD-YUZOGC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YUZOGC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YUZOGC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YUZOGC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YUZOGC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YUZOGC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YUZOGC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YUZOGC Craniopharyngioma 2F9A Orphanet 54595 TPD-YUZOGC Cushing disease 5A70.0 Orphanet 96253 TPD-YV9AAS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YV9AAS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YV9AAS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YV9IQL Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YV9IQL Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YVB1YT Kennedy disease 8B61.4 Orphanet 481 TPD-YVB1YT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YVB1YT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YVB1YT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YVIP99 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-YVMLES Noonan syndrome LD2F.15 Orphanet 648 TPD-YVMLES Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YVMLES Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YVMLES Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YVMLES Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YVMLES Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YVMLES Lynch syndrome 2B90.Y Orphanet 144 TPD-YVMLES Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YVMLES Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YVW7NX Kennedy disease 8B61.4 Orphanet 481 TPD-YVW7NX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YVW7NX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YVW7NX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YW1FBX X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YW1FBX Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YW2W5X Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YW80RK Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-YWAOUW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YWAOUW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YWB6UD Kennedy disease 8B61.4 Orphanet 481 TPD-YWB6UD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YWB6UD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YWB6UD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YWCF3E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YWCF3E Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YWCF3E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YWCXT4 Noonan syndrome LD2F.15 Orphanet 648 TPD-YWCXT4 Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-YWDKJE Familial melanoma QC61.Y Orphanet 618 TPD-YWDKJE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YWEZCP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YWHUV6 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YWHUV6 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YWHUV6 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YWHWLT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YWHWLT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YWHWLT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YWJII8 Kennedy disease 8B61.4 Orphanet 481 TPD-YWJII8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YWJII8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YWJII8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YWJMR8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YWJMR8 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YWKDG5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YWKDG5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YWKIFH Noonan syndrome LD2F.15 Orphanet 648 TPD-YWKIFH Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YWKIFH Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YWKIFH Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YWKIFH Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YWKIFH Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YWKIFH Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YWKIFH Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YWKIFH Craniopharyngioma 2F9A Orphanet 54595 TPD-YWKIFH Cushing disease 5A70.0 Orphanet 96253 TPD-YWWZD7 Noonan syndrome LD2F.15 Orphanet 648 TPD-YWWZD7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-YWWZD7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-YWWZD7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YWWZD7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YWWZD7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-YWWZD7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-YWWZD7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-YWWZD7 Craniopharyngioma 2F9A Orphanet 54595 TPD-YWWZD7 Cushing disease 5A70.0 Orphanet 96253 TPD-YWXDMW Kennedy disease 8B61.4 Orphanet 481 TPD-YWXDMW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YWXDMW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YWXDMW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YWZTVN CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YX8UXD Noonan syndrome LD2F.15 Orphanet 648 TPD-YX8UXD Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YX8UXD Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YX8UXD Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YX8UXD Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YX8UXD Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YX8UXD Lynch syndrome 2B90.Y Orphanet 144 TPD-YX8UXD Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YX8UXD Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YXAB18 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-YXACC3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YXACC3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YXACC3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YXMW31 Fleck corneal dystrophy 9A70.Y Orphanet 98970 TPD-YXY8J1 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YXY8J1 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YXY8J1 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YXZFWB Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YXZFWB Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YY1GB7 Noonan syndrome LD2F.15 Orphanet 648 TPD-YY1GB7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-YY1GB7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-YY1GB7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-YY1GB7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-YY1GB7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-YY1GB7 Lynch syndrome 2B90.Y Orphanet 144 TPD-YY1GB7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-YY1GB7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-YY3QBQ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-YY3QBQ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-YY4OEI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YY4OEI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YYHQ5E Kennedy disease 8B61.4 Orphanet 481 TPD-YYHQ5E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YYHQ5E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YYHQ5E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YYI0AU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YYI0AU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YYI0AU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YYP0NA Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-YYP0NA Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-YYP0NA Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-YYP0NA Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-YYP0NA Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-YYP0NA Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-YYP0NA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YYP0NA Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-YYP0NA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-YYQMDX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YYQMDX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YYQMDX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YYQMDX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YYUZ8P Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-YYUZ8P Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-YYUZ8P Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-YZ10U3 Familial melanoma QC61.Y Orphanet 618 TPD-YZ10U3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YZ5BIQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YZ5BIQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YZ5VWU Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-YZ5VWU Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-YZCZEW Kennedy disease 8B61.4 Orphanet 481 TPD-YZCZEW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YZCZEW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YZCZEW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YZNNRC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YZOYOG Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-YZOYOG Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-YZOYOG Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-YZQT2S Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YZQT2S Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-YZQTTX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-YZQTTX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-YZQTTX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-YZQTTX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-YZRWQE Kennedy disease 8B61.4 Orphanet 481 TPD-YZRWQE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YZRWQE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YZRWQE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-YZT2TD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-YZT2TD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-YZV3P5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-YZVGB7 Kennedy disease 8B61.4 Orphanet 481 TPD-YZVGB7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-YZVGB7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-YZVGB7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z049AM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z049AM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z049AM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z04F6B Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z04F6B Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z04F6B Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z04F6B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z04F6B Neuroblastoma 2A00.11 Orphanet 635 TPD-Z04F6B Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-Z04F6B ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-Z04F6B ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-Z04F6B Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-Z0598E Kennedy disease 8B61.4 Orphanet 481 TPD-Z0598E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z0598E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z0598E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z06K1K Noonan syndrome LD2F.15 Orphanet 648 TPD-Z06K1K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z06K1K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z06K1K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z06K1K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z06K1K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z06K1K Lynch syndrome 2B90.Y Orphanet 144 TPD-Z06K1K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z06K1K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z07Y4T Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z07Y4T Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z07Y4T B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z07Y4T B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z08Z6J Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z09M8P Kennedy disease 8B61.4 Orphanet 481 TPD-Z09M8P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z09M8P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z09M8P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z0AO4R Weaver syndrome LD2C Orphanet 3447 TPD-Z0B2TM Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z0B2TM Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z0B2TM Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z0B9VH Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z0B9VH Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z0B9VH Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z0BMUW Kennedy disease 8B61.4 Orphanet 481 TPD-Z0BMUW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z0BMUW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z0BMUW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z0BR5Z Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z0BR5Z Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z0BR5Z Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z0BWHU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z0BWHU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z0CLMR Noonan syndrome LD2F.15 Orphanet 648 TPD-Z0CLMR Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z0CLMR Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z0CLMR Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z0CLMR Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z0CLMR Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z0CLMR Lynch syndrome 2B90.Y Orphanet 144 TPD-Z0CLMR Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z0CLMR Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z0EHJK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Z0G65I X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z0G65I Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z0GIO8 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Z0GUAL Achondroplasia LD24.00 Orphanet 15 TPD-Z0GUAL Hypochondroplasia LD24.01 Orphanet 429 TPD-Z0GUAL Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-Z0GUAL Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-Z0GUAL Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-Z0GUAL Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z0GUAL Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z0GUAL Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-Z0GUAL Muenke syndrome LD24.GY Orphanet 53271 TPD-Z0GUAL Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-Z0GUAL Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-Z0GUAL Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-Z0H19Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z0H19Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z0H19Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z0I2IH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z0I2IH Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Z0I2IH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z0J57E Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z0J57E Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z0LVI6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z0LVI6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z0MA3N Noonan syndrome LD2F.15 Orphanet 648 TPD-Z0MA3N Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z0MA3N Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z0MA3N Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z0MA3N Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z0MA3N Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z0MA3N Lynch syndrome 2B90.Y Orphanet 144 TPD-Z0MA3N Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z0MA3N Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z0W5ZG Noonan syndrome LD2F.15 Orphanet 648 TPD-Z0W5ZG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z0W5ZG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z0W5ZG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z0W5ZG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z0W5ZG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z0W5ZG Lynch syndrome 2B90.Y Orphanet 144 TPD-Z0W5ZG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z0W5ZG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z0ZA28 Kennedy disease 8B61.4 Orphanet 481 TPD-Z0ZA28 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z0ZA28 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z0ZA28 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z10356 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z10356 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z10X39 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Z11TTM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z11TTM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z1AMWK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Z1BW1A Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z1BW1A Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z1BW1A Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z1CW2D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z1CW2D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z1HWXC Burkitt lymphoma XH4KA9 Orphanet 543 TPD-Z1HWXC Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Z1KQ46 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z1KQ46 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z1KQ46 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z1N52N Kennedy disease 8B61.4 Orphanet 481 TPD-Z1N52N Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z1N52N Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z1N52N Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z1RUU6 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-Z1RUU6 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Z1RUU6 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Z1X484 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-Z1X484 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Z21P98 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z21P98 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z21P98 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z221D8 Kennedy disease 8B61.4 Orphanet 481 TPD-Z221D8 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z221D8 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z221D8 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z259LJ Kennedy disease 8B61.4 Orphanet 481 TPD-Z259LJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z259LJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z259LJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z266EJ Noonan syndrome LD2F.15 Orphanet 648 TPD-Z266EJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z266EJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z266EJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z266EJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z266EJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z266EJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z266EJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z266EJ Craniopharyngioma 2F9A Orphanet 54595 TPD-Z266EJ Cushing disease 5A70.0 Orphanet 96253 TPD-Z26UZ0 Kennedy disease 8B61.4 Orphanet 481 TPD-Z26UZ0 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z26UZ0 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z26UZ0 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z27SFH Weaver syndrome LD2C Orphanet 3447 TPD-Z2EEJQ Familial melanoma QC61.Y Orphanet 618 TPD-Z2F58H Kennedy disease 8B61.4 Orphanet 481 TPD-Z2F58H Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z2F58H Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z2F58H Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z2GHWV Kennedy disease 8B61.4 Orphanet 481 TPD-Z2GHWV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z2GHWV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z2GHWV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z2KTDX Noonan syndrome LD2F.15 Orphanet 648 TPD-Z2KTDX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z2KTDX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z2KTDX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z2KTDX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z2KTDX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z2KTDX Lynch syndrome 2B90.Y Orphanet 144 TPD-Z2KTDX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z2KTDX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z2NC2O Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z2OD1E Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z2VFBG Kennedy disease 8B61.4 Orphanet 481 TPD-Z2VFBG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z2VFBG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z2VFBG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z2W735 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-Z2Z0KO Noonan syndrome LD2F.15 Orphanet 648 TPD-Z2Z0KO Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z2Z0KO Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z2Z0KO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z2Z0KO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z2Z0KO Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z2Z0KO Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z2Z0KO Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z2Z0KO Craniopharyngioma 2F9A Orphanet 54595 TPD-Z2Z0KO Cushing disease 5A70.0 Orphanet 96253 TPD-Z30VWH Familial melanoma QC61.Y Orphanet 618 TPD-Z30VWH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z32HJR Kennedy disease 8B61.4 Orphanet 481 TPD-Z32HJR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z32HJR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z32HJR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z373EI Kennedy disease 8B61.4 Orphanet 481 TPD-Z373EI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z373EI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z373EI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z3GC6L Noonan syndrome LD2F.15 Orphanet 648 TPD-Z3GC6L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z3GC6L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z3GC6L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z3GC6L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z3GC6L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z3GC6L Lynch syndrome 2B90.Y Orphanet 144 TPD-Z3GC6L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z3GC6L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z3HNXA CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Z3IG8F Familial melanoma QC61.Y Orphanet 618 TPD-Z3IG8F Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z3MPCO Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z3PIEO Familial melanoma QC61.Y Orphanet 618 TPD-Z3PIEO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z3QOQE Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Z3RQS8 Familial melanoma QC61.Y Orphanet 618 TPD-Z3SHBJ Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-Z3SHBJ Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-Z3W511 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-Z3W511 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-Z3W511 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-Z3W511 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-Z3W511 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-Z3W511 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-Z3W511 Semantic dementia 6D83 Orphanet 100069 TPD-Z3W511 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-Z43UYJ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z43UYJ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z45R6C Kennedy disease 8B61.4 Orphanet 481 TPD-Z45R6C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z45R6C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z45R6C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z49J39 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z4DDU7 Kennedy disease 8B61.4 Orphanet 481 TPD-Z4DDU7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z4DDU7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z4DDU7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z4E72Q Kennedy disease 8B61.4 Orphanet 481 TPD-Z4E72Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z4E72Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z4E72Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z4M97M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z4M97M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z4V7IJ Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-Z4V9C7 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z4V9C7 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Z4V9C7 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z4VM2C X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z4VM2C Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z4ZKYN Kennedy disease 8B61.4 Orphanet 481 TPD-Z4ZKYN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z4ZKYN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z4ZKYN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z559W5 Familial melanoma QC61.Y Orphanet 618 TPD-Z559W5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z55W90 Kennedy disease 8B61.4 Orphanet 481 TPD-Z55W90 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z55W90 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z55W90 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z58A3M Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z58UKQ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Z590GY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z59TJ8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z59TJ8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z5DL2P Kennedy disease 8B61.4 Orphanet 481 TPD-Z5DL2P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z5DL2P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z5DL2P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z5FMUU Kennedy disease 8B61.4 Orphanet 481 TPD-Z5FMUU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z5FMUU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z5FMUU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z5FZNU Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z5FZNU Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z5KNFI Kennedy disease 8B61.4 Orphanet 481 TPD-Z5KNFI Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z5KNFI Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z5KNFI Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z5KS7P Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z5MVUZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z5MVUZ Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z5SU8D X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z5SU8D Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z5VMPX Kennedy disease 8B61.4 Orphanet 481 TPD-Z5VMPX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z5VMPX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z5VMPX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z5VSAE Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z5VSAE Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z5VSAE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z5VSAE B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z5WG9D Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z5WG9D Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z5WKJF Noonan syndrome LD2F.15 Orphanet 648 TPD-Z5WKJF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z5WKJF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z5WKJF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z5WKJF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z5WKJF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z5WKJF Lynch syndrome 2B90.Y Orphanet 144 TPD-Z5WKJF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z5WKJF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z5XA46 Burkitt lymphoma XH4KA9 Orphanet 543 TPD-Z5XA46 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Z5XA46 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Z64QHT Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z64QHT Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z64QHT Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z68623 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-Z6AZHG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z6AZHG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z6EY2C Kennedy disease 8B61.4 Orphanet 481 TPD-Z6EY2C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z6EY2C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z6EY2C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z6GMFL Kennedy disease 8B61.4 Orphanet 481 TPD-Z6GMFL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z6GMFL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z6GMFL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z6HVHH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z6HVHH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z6HVHH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z6HVHH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z6KG0Z Noonan syndrome LD2F.15 Orphanet 648 TPD-Z6KG0Z Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z6KG0Z Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z6KG0Z Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z6KG0Z Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z6KG0Z Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z6KG0Z Lynch syndrome 2B90.Y Orphanet 144 TPD-Z6KG0Z Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z6KG0Z Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z6KSBL Noonan syndrome LD2F.15 Orphanet 648 TPD-Z6KSBL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z6KSBL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z6KSBL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z6KSBL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z6KSBL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z6KSBL Lynch syndrome 2B90.Y Orphanet 144 TPD-Z6KSBL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z6KSBL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z6M7XN Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z6MWZ2 Kennedy disease 8B61.4 Orphanet 481 TPD-Z6MWZ2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z6MWZ2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z6MWZ2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z6PD7L Familial melanoma QC61.Y Orphanet 618 TPD-Z6PD7L Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z6QY0Q Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z6QY0Q Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z6QY0Q B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z6TK5R Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z6U3P3 Familial melanoma QC61.Y Orphanet 618 TPD-Z6U3P3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z6VLMP Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Z6WNLN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z6WNLN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z6WNLN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z6XYMK Kennedy disease 8B61.4 Orphanet 481 TPD-Z6XYMK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z6XYMK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z6XYMK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z72GWE Noonan syndrome LD2F.15 Orphanet 648 TPD-Z72GWE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z72GWE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z72GWE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z72GWE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z72GWE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z72GWE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z72GWE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z72GWE Craniopharyngioma 2F9A Orphanet 54595 TPD-Z72GWE Cushing disease 5A70.0 Orphanet 96253 TPD-Z774RM Kennedy disease 8B61.4 Orphanet 481 TPD-Z774RM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z774RM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z774RM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z77XC9 Kennedy disease 8B61.4 Orphanet 481 TPD-Z77XC9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z77XC9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z77XC9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z7BAY1 Familial melanoma QC61.Y Orphanet 618 TPD-Z7BAY1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z7BUH2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z7BUH2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z7BUH2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z7BUH2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z7D68E Kennedy disease 8B61.4 Orphanet 481 TPD-Z7D68E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z7D68E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z7D68E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z7DUXU Noonan syndrome LD2F.15 Orphanet 648 TPD-Z7DUXU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z7DUXU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z7DUXU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z7DUXU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z7DUXU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z7DUXU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z7DUXU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z7DUXU Craniopharyngioma 2F9A Orphanet 54595 TPD-Z7DUXU Cushing disease 5A70.0 Orphanet 96253 TPD-Z7FUNP Familial melanoma QC61.Y Orphanet 618 TPD-Z7FUNP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z7G1CS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z7G1CS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z7G1CS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z7GNMT B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z7GNMT X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-Z7GNMT Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-Z7LMA1 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z7LMA1 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z7LMA1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z7LMA1 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z7MJGL Familial melanoma QC61.Y Orphanet 618 TPD-Z7MJGL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z7PWQL Kennedy disease 8B61.4 Orphanet 481 TPD-Z7PWQL Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z7PWQL Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z7PWQL Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z7QWGE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z7ZLDX Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-Z7ZLDX Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-Z81ZAN Noonan syndrome LD2F.15 Orphanet 648 TPD-Z81ZAN Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-Z82HJN Kennedy disease 8B61.4 Orphanet 481 TPD-Z82HJN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z82HJN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z82HJN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z82P8C Noonan syndrome LD2F.15 Orphanet 648 TPD-Z82P8C Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z82P8C Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z82P8C Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z82P8C Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z82P8C Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z82P8C Lynch syndrome 2B90.Y Orphanet 144 TPD-Z82P8C Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z82P8C Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z84OR6 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-Z86V0I Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-Z86V0I Wilson-Turner syndrome LD29 Orphanet 3459 TPD-Z8845T Noonan syndrome LD2F.15 Orphanet 648 TPD-Z8845T Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z8845T Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z8845T Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z8845T Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z8845T Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z8845T Lynch syndrome 2B90.Y Orphanet 144 TPD-Z8845T Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z8845T Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z8C3LB Noonan syndrome LD2F.15 Orphanet 648 TPD-Z8C3LB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z8C3LB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z8C3LB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z8C3LB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z8C3LB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z8C3LB Lynch syndrome 2B90.Y Orphanet 144 TPD-Z8C3LB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z8C3LB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z8IFWG Noonan syndrome LD2F.15 Orphanet 648 TPD-Z8IFWG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z8IFWG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z8IFWG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z8IFWG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z8IFWG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z8IFWG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z8IFWG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z8IFWG Craniopharyngioma 2F9A Orphanet 54595 TPD-Z8IFWG Cushing disease 5A70.0 Orphanet 96253 TPD-Z8J3ZW Kennedy disease 8B61.4 Orphanet 481 TPD-Z8J3ZW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z8J3ZW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z8J3ZW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z8K8Z7 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z8K8Z7 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z8KETS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z8KETS Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Z8KETS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z8M6B6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z8OAU1 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z8OAU1 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z8RFTC Kennedy disease 8B61.4 Orphanet 481 TPD-Z8RFTC Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z8RFTC Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z8RFTC Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z8ZLH6 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-Z9094H Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-Z9094H Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-Z90RG9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z90RG9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-Z92T8Y Familial melanoma QC61.Y Orphanet 618 TPD-Z92T8Y Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z97BU7 Familial melanoma QC61.Y Orphanet 618 TPD-Z97BU7 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z99TA0 Noonan syndrome LD2F.15 Orphanet 648 TPD-Z99TA0 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-Z99TA0 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-Z99TA0 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z99TA0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z99TA0 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-Z99TA0 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-Z99TA0 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-Z99TA0 Craniopharyngioma 2F9A Orphanet 54595 TPD-Z99TA0 Cushing disease 5A70.0 Orphanet 96253 TPD-Z9DX95 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-Z9DX95 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-Z9DX95 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-Z9FFEZ Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-Z9FFEZ Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-Z9FFEZ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Z9FFEZ B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-Z9GZKG Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-Z9GZKG Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-Z9GZKG Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-Z9GZKG Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-Z9GZKG Primary myelofibrosis 2A20.2 Orphanet 824 TPD-Z9GZKG Polycythemia vera 2A20.4 Orphanet 729 TPD-Z9GZKG Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-Z9IAEZ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z9IX79 Noonan syndrome LD2F.15 Orphanet 648 TPD-Z9IX79 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-Z9IX79 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-Z9IX79 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-Z9IX79 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-Z9IX79 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-Z9IX79 Lynch syndrome 2B90.Y Orphanet 144 TPD-Z9IX79 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-Z9IX79 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-Z9JISY Kennedy disease 8B61.4 Orphanet 481 TPD-Z9JISY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z9JISY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z9JISY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z9K02Z Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-Z9K02Z Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-Z9K02Z Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-Z9KJCM Kennedy disease 8B61.4 Orphanet 481 TPD-Z9KJCM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z9KJCM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z9KJCM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z9LPQQ Kennedy disease 8B61.4 Orphanet 481 TPD-Z9LPQQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-Z9LPQQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-Z9LPQQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-Z9OAX1 Familial melanoma QC61.Y Orphanet 618 TPD-Z9OAX1 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Z9P0W1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-Z9P0W1 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZA23K5 Kennedy disease 8B61.4 Orphanet 481 TPD-ZA23K5 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZA23K5 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZA23K5 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZA304K Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-ZA5SJB Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZAA85K Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZAA85K Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZAA85K B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZAA85K B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZADTRR Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZAE7Z2 Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-ZAE7Z2 CINCA syndrome 4A60.1 Orphanet 1451 TPD-ZAE7Z2 Familial cold urticaria 4A60.1 Orphanet 47045 TPD-ZAG340 Kennedy disease 8B61.4 Orphanet 481 TPD-ZAG340 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZAG340 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZAG340 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZAG8AO Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZAG976 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZAG976 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZAG976 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZAG976 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZAG976 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZAG976 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZAG976 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZAG976 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZAG976 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZAH07I Achondroplasia LD24.00 Orphanet 15 TPD-ZAH07I Hypochondroplasia LD24.01 Orphanet 429 TPD-ZAH07I Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-ZAH07I Thanatophoric dysplasia type 1 LD24.02 Orphanet 1860 TPD-ZAH07I Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-ZAH07I Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZAH07I Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZAH07I Non-syndromic bicoronal craniosynostosis LB70.0Y Orphanet 35099 TPD-ZAH07I Muenke syndrome LD24.GY Orphanet 53271 TPD-ZAH07I Crouzon syndrome-acanthosis nigricans syndrome LD24.GY Orphanet 93262 TPD-ZAH07I Thanatophoric dysplasia type 2 LD24.02 Orphanet 93274 TPD-ZAH07I Camptodactyly-tall stature-scoliosis-hearing loss syndrome LD2F.1Y Orphanet 85164 TPD-ZAHN7Y Kennedy disease 8B61.4 Orphanet 481 TPD-ZAHN7Y Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZAHN7Y Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZAHN7Y Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZAMQMV Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZAMQMV Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZAMQMV Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZANHO1 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZANHO1 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZANHO1 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZANHO1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZANHO1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZANHO1 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZANHO1 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZANHO1 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZANHO1 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZANHO1 Cushing disease 5A70.0 Orphanet 96253 TPD-ZAOWFK Kennedy disease 8B61.4 Orphanet 481 TPD-ZAOWFK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZAOWFK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZAOWFK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZAPBO7 Kennedy disease 8B61.4 Orphanet 481 TPD-ZAPBO7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZAPBO7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZAPBO7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZAV53P Noonan syndrome LD2F.15 Orphanet 648 TPD-ZAV53P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZAV53P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZAV53P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZAV53P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZAV53P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZAV53P Lynch syndrome 2B90.Y Orphanet 144 TPD-ZAV53P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZAV53P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZAVWAY Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZAVXVI X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZAVXVI Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZAWRHR Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZAX8FK Kennedy disease 8B61.4 Orphanet 481 TPD-ZAX8FK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZAX8FK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZAX8FK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZAY8BI Noonan syndrome LD2F.15 Orphanet 648 TPD-ZAY8BI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZAY8BI Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZAY8BI Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZAY8BI Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZAY8BI Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZAY8BI Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZAY8BI Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZAY8BI Craniopharyngioma 2F9A Orphanet 54595 TPD-ZAY8BI Cushing disease 5A70.0 Orphanet 96253 TPD-ZAZ4Q4 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZB3RCR Kennedy disease 8B61.4 Orphanet 481 TPD-ZB3RCR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZB3RCR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZB3RCR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZB5KH5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZB5KH5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZB5KH5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZB5KH5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZB5KH5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZB5KH5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZB5KH5 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZB5KH5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZB5KH5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZB7VXY Noonan syndrome LD2F.15 Orphanet 648 TPD-ZB7VXY Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZB7VXY Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZB7VXY Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZB7VXY Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZB7VXY Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZB7VXY Lynch syndrome 2B90.Y Orphanet 144 TPD-ZB7VXY Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZB7VXY Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZBKTXG Noonan syndrome LD2F.15 Orphanet 648 TPD-ZBKTXG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZBKTXG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZBKTXG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZBKTXG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZBKTXG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZBKTXG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZBKTXG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZBKTXG Craniopharyngioma 2F9A Orphanet 54595 TPD-ZBKTXG Cushing disease 5A70.0 Orphanet 96253 TPD-ZBNEFJ Noonan syndrome LD2F.15 Orphanet 648 TPD-ZBNEFJ Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZBNEFJ Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZBNEFJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZBNEFJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZBNEFJ Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZBNEFJ Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZBNEFJ Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZBNEFJ Craniopharyngioma 2F9A Orphanet 54595 TPD-ZBNEFJ Cushing disease 5A70.0 Orphanet 96253 TPD-ZBPDT9 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZBPDT9 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZBPDT9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZBPDT9 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZBTGUM Noonan syndrome LD2F.15 Orphanet 648 TPD-ZBTGUM Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZBTGUM Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZBTGUM Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZBTGUM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZBTGUM Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZBTGUM Lynch syndrome 2B90.Y Orphanet 144 TPD-ZBTGUM Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZBTGUM Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZC1JG3 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZC1JG3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZC1JG3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZC1JG3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZC1JG3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZC1JG3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZC1JG3 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZC1JG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZC1JG3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZC1Z25 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZC1Z25 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZC1Z25 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZC1Z25 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZC1Z25 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZC1Z25 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZC1Z25 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZC1Z25 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZC1Z25 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZC3780 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZC3FGK Noonan syndrome LD2F.15 Orphanet 648 TPD-ZC3FGK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZC3FGK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZC3FGK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZC3FGK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZC3FGK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZC3FGK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZC3FGK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZC3FGK Craniopharyngioma 2F9A Orphanet 54595 TPD-ZC3FGK Cushing disease 5A70.0 Orphanet 96253 TPD-ZC4DCA Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZC8EHP Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZC8EHP Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZC8EHP Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZC9RJX Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZC9RJX Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZC9RJX B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZC9RJX B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZCAWYI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZCAWYI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZCBNXC Noonan syndrome LD2F.15 Orphanet 648 TPD-ZCBNXC Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZCBNXC Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZCBNXC Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZCBNXC Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZCBNXC Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZCBNXC Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZCBNXC Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZCBNXC Craniopharyngioma 2F9A Orphanet 54595 TPD-ZCBNXC Cushing disease 5A70.0 Orphanet 96253 TPD-ZCEBEW Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZCEBEW Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZCEBEW Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZCGL36 Familial melanoma QC61.Y Orphanet 618 TPD-ZCGL36 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZCHGG9 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZCHGG9 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZCHGG9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZCHGG9 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZCHGG9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZCHGG9 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZCHGG9 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZCHGG9 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZCHGG9 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZCK3QF Noonan syndrome LD2F.15 Orphanet 648 TPD-ZCK3QF Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZCK3QF Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZCK3QF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZCK3QF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZCK3QF Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZCK3QF Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZCK3QF Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZCK3QF Craniopharyngioma 2F9A Orphanet 54595 TPD-ZCK3QF Cushing disease 5A70.0 Orphanet 96253 TPD-ZCK3QF Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-ZCKEIQ Kennedy disease 8B61.4 Orphanet 481 TPD-ZCKEIQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZCKEIQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZCKEIQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZCPEYA Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZCZGGA Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZCZGGA Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZCZGGA Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZD1P54 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZD6MUO Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZD6MUO Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZD8VFK Noonan syndrome LD2F.15 Orphanet 648 TPD-ZD8VFK Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZD8VFK Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZD8VFK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZD8VFK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZD8VFK Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZD8VFK Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZD8VFK Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZD8VFK Craniopharyngioma 2F9A Orphanet 54595 TPD-ZD8VFK Cushing disease 5A70.0 Orphanet 96253 TPD-ZDFC5T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZDFC5T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZDFC5T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZDHWSQ Noonan syndrome LD2F.15 Orphanet 648 TPD-ZDHWSQ Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ZDKK01 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZDP9S3 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZDP9S3 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZDP9S3 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZDP9S3 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZDPRUN Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZDUIAR Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZDUIAR Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZDV7S1 Kennedy disease 8B61.4 Orphanet 481 TPD-ZDV7S1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZDV7S1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZDV7S1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZDYUCT Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-ZE04LJ Kennedy disease 8B61.4 Orphanet 481 TPD-ZE04LJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZE04LJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZE04LJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZEB4HO Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZEB4HO Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZEBP8P Noonan syndrome LD2F.15 Orphanet 648 TPD-ZEBP8P Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZEBP8P Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZEBP8P Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZEBP8P Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZEBP8P Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZEBP8P Lynch syndrome 2B90.Y Orphanet 144 TPD-ZEBP8P Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZEBP8P Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZEFQ85 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZEMG32 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZEMG32 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZEMG32 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZEMG32 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZEMG80 Kennedy disease 8B61.4 Orphanet 481 TPD-ZEMG80 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZEMG80 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZEMG80 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZEP93S Kennedy disease 8B61.4 Orphanet 481 TPD-ZEP93S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZEP93S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZEP93S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZEQEKV Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZEVZQ0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZEVZQ0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZEVZQ0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZEW8DR Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZEW8DR Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZEY4LG Noonan syndrome LD2F.15 Orphanet 648 TPD-ZEY4LG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZEY4LG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZEY4LG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZEY4LG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZEY4LG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZEY4LG Lynch syndrome 2B90.Y Orphanet 144 TPD-ZEY4LG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZEY4LG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZF2043 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZF2043 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZF2043 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZF2FLE Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-ZF2K0A Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZF4JDQ Kennedy disease 8B61.4 Orphanet 481 TPD-ZF4JDQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZF4JDQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZF4JDQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZF4JI6 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZF7EJH Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZF7EJH Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZF7EJH Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZF7EJH Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZF7EJH Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZF7EJH Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZF7EJH Semantic dementia 6D83 Orphanet 100069 TPD-ZF7EJH Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZF7JFE Familial melanoma QC61.Y Orphanet 618 TPD-ZF7JFE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZFBW2V X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZFBW2V Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZFCAN7 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZFFN4M Familial melanoma QC61.Y Orphanet 618 TPD-ZFFN4M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZFGGFF Acrofacial dysostosis, Weyers type LD25.2 Orphanet 952 TPD-ZFGGFF Osteopathia striata-cranial sclerosis syndrome LD24.1Y Orphanet 2780 TPD-ZFGGFF Adrenocortical carcinoma 2D11.Z Orphanet 1501 TPD-ZFGGFF Familial exudative vitreoretinopathy LA13.3 Orphanet 891 TPD-ZFGGFF Craniopharyngioma 2F9A Orphanet 54595 TPD-ZFGGFF Pilomatrixoma 2F22 Orphanet 91414 TPD-ZFGGFF Adenoid ameloblastoma 2E83.0/2E83.1 Orphanet 689430 TPD-ZFJPM2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZFJPM2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZFTTMI Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZFTTMI Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZFV7TU Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZFV7TU Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZFW7B2 Kennedy disease 8B61.4 Orphanet 481 TPD-ZFW7B2 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZFW7B2 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZFW7B2 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZFZ99R Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZFZ99R Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZFZMB2 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZFZMB2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZFZMB2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZFZMB2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZFZMB2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZFZMB2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZFZMB2 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZFZMB2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZFZMB2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZG1C69 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZG2GW7 Kennedy disease 8B61.4 Orphanet 481 TPD-ZG2GW7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZG2GW7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZG2GW7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZG5FY8 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZG5FY8 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZG5FY8 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZG5FY8 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZG5FY8 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZG5FY8 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZG5FY8 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZG5FY8 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZG5FY8 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZG8QF4 Familial melanoma QC61.Y Orphanet 618 TPD-ZG8QF4 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZG8WMN Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZGAWNB Noonan syndrome LD2F.15 Orphanet 648 TPD-ZGAWNB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZGAWNB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZGAWNB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZGAWNB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZGAWNB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZGAWNB Lynch syndrome 2B90.Y Orphanet 144 TPD-ZGAWNB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZGAWNB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZGE92C Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZGE92C Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZGF1PH Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZGF1PH Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZGF1PH B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZGF1PH B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZGLYQA Kennedy disease 8B61.4 Orphanet 481 TPD-ZGLYQA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZGLYQA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZGLYQA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZGN0R0 Familial melanoma QC61.Y Orphanet 618 TPD-ZGN0R0 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZGRRXX Noonan syndrome LD2F.15 Orphanet 648 TPD-ZGRRXX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZGRRXX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZGRRXX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZGRRXX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZGRRXX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZGRRXX Lynch syndrome 2B90.Y Orphanet 144 TPD-ZGRRXX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZGRRXX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZGVBVI Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZGVBVI Neuroblastoma 2A00.11 Orphanet 635 TPD-ZGVBVI Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-ZGVBVI ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-ZGVBVI ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-ZGYN7K Kennedy disease 8B61.4 Orphanet 481 TPD-ZGYN7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZGYN7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZGYN7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZGZ86Y Cowden syndrome LD2D.Y Orphanet 201 TPD-ZGZ86Y Proteus syndrome LD2C Orphanet 744 TPD-ZGZ86Y Meningioma 2A01.0 Orphanet 2495 TPD-ZH0XLP Kennedy disease 8B61.4 Orphanet 481 TPD-ZH0XLP Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZH0XLP Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZH0XLP Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZH2NBR Kennedy disease 8B61.4 Orphanet 481 TPD-ZH2NBR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZH2NBR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZH2NBR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZH4I3L Kennedy disease 8B61.4 Orphanet 481 TPD-ZH4I3L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZH4I3L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZH4I3L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZH6SFV Kennedy disease 8B61.4 Orphanet 481 TPD-ZH6SFV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZH6SFV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZH6SFV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZHDQXN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZHDQXN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZHDQXN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZHDQXN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZHE74P Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZHGHDM Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZHGTXA Kennedy disease 8B61.4 Orphanet 481 TPD-ZHGTXA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZHGTXA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZHGTXA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZHL9QU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZHL9QU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZHL9QU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZHL9QU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZHL9QU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZHL9QU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZHL9QU Lynch syndrome 2B90.Y Orphanet 144 TPD-ZHL9QU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZHL9QU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZHLZCR Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZHMFYH Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZHMFYH Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZHO8RU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZHO8RU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZHO8RU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZHO8RU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZHO8RU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZHO8RU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZHO8RU Lynch syndrome 2B90.Y Orphanet 144 TPD-ZHO8RU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZHO8RU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZHPX6B Noonan syndrome LD2F.15 Orphanet 648 TPD-ZHPX6B Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZHPX6B Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZHPX6B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZHPX6B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZHPX6B Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZHPX6B Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZHPX6B Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZHPX6B Craniopharyngioma 2F9A Orphanet 54595 TPD-ZHPX6B Cushing disease 5A70.0 Orphanet 96253 TPD-ZHRCBB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZHSC1S Kennedy disease 8B61.4 Orphanet 481 TPD-ZHSC1S Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZHSC1S Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZHSC1S Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZHSS0U Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZHSS0U Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZHW0IM Kennedy disease 8B61.4 Orphanet 481 TPD-ZHW0IM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZHW0IM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZHW0IM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZHYZH5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZHYZH5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZI4GRV Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZI4GRV Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZI4GRV Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZI4GRV Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZI4GRV Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZI4GRV Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZI4GRV Semantic dementia 6D83 Orphanet 100069 TPD-ZI4GRV Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZI50FJ Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-ZI6HL1 Kennedy disease 8B61.4 Orphanet 481 TPD-ZI6HL1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZI6HL1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZI6HL1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZI94AJ Kennedy disease 8B61.4 Orphanet 481 TPD-ZI94AJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZI94AJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZI94AJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZIBMSO Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZIF28F Kennedy disease 8B61.4 Orphanet 481 TPD-ZIF28F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZIF28F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZIF28F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZIFT17 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZIFT17 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZIFT17 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZIFT17 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZIJFI5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZIJFI5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZIJFI5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZIJFI5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZIJFI5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZIJFI5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZIJFI5 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZIJFI5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZIJFI5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZILXWO Kennedy disease 8B61.4 Orphanet 481 TPD-ZILXWO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZILXWO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZILXWO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZIRB7F Kennedy disease 8B61.4 Orphanet 481 TPD-ZIRB7F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZIRB7F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZIRB7F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZIROW7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZIROW7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZIX5JS Noonan syndrome LD2F.15 Orphanet 648 TPD-ZIX5JS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZIX5JS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZIX5JS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZIX5JS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZIX5JS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZIX5JS Lynch syndrome 2B90.Y Orphanet 144 TPD-ZIX5JS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZIX5JS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZJ3X8M Noonan syndrome LD2F.15 Orphanet 648 TPD-ZJ3X8M Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZJ3X8M Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZJ3X8M Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZJ3X8M Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZJ3X8M Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZJ3X8M Lynch syndrome 2B90.Y Orphanet 144 TPD-ZJ3X8M Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZJ3X8M Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZJ66CE Acute myeloid leukemia without maturation 2A60.31 Orphanet 98833 TPD-ZJ66CE Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-ZJ66CE Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-ZJ66CE Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-ZJ66CE Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-ZJ66CE Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-ZJ66CE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZJ66CE Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-ZJ66CE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ZJ6XYJ Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-ZJ6XYJ Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-ZJ8VG3 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZJAST4 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZJAST4 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZJAST4 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZJBYTM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZJBYTM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZJL8AS Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZJL8AS Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZJLGS5 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-ZJLGS5 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-ZJLGS5 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-ZJM4H9 Kennedy disease 8B61.4 Orphanet 481 TPD-ZJM4H9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZJM4H9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZJM4H9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZJMPIP Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZJMPIP Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZJMPIP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZJMPIP B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZJNNKD Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZJNNKD Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZJNNKD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZJNNKD B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZJR7L6 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZJR7L6 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZJS7IX Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-ZJW1V0 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZJW1V0 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZJW1V0 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZJW327 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZJW327 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZJW327 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZJW327 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZJW327 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZJW327 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZJW327 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZJW327 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZJW327 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZJYNA3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZJYNA3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZJYNA3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZJZA3E Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZJZA3E Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZJZA3E B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZK1BE2 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZK1BE2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZK1BE2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZK1BE2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZK1BE2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZK1BE2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZK1BE2 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZK1BE2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZK1BE2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZK1CN4 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZK1CN4 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZK20M9 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZK20M9 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZK3O8E Kennedy disease 8B61.4 Orphanet 481 TPD-ZK3O8E Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZK3O8E Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZK3O8E Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZK67P9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZK99R4 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZK99R4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZK99R4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZK99R4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZK99R4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZK99R4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZK99R4 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZK99R4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZK99R4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZK9XSF Noonan syndrome LD2F.15 Orphanet 648 TPD-ZK9XSF Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ZKAU1J Familial melanoma QC61.Y Orphanet 618 TPD-ZKAU1J Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZKGZ94 Kennedy disease 8B61.4 Orphanet 481 TPD-ZKGZ94 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZKGZ94 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZKGZ94 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZKN3Q1 Kennedy disease 8B61.4 Orphanet 481 TPD-ZKN3Q1 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZKN3Q1 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZKN3Q1 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZKZK95 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZKZY32 Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZL0RPS Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZL0RPS Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZL0RPS Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZL19GT Kennedy disease 8B61.4 Orphanet 481 TPD-ZL19GT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZL19GT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZL19GT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZL3BRW Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZL3YEE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZL4KMU Familial melanoma QC61.Y Orphanet 618 TPD-ZL4Y6T Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZL4YN8 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-ZL4YN8 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-ZL4YN8 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-ZL6HOO Kennedy disease 8B61.4 Orphanet 481 TPD-ZL6HOO Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZL6HOO Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZL6HOO Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZL6XWZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZL6XWZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZL6XWZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZL761X Kennedy disease 8B61.4 Orphanet 481 TPD-ZL761X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZL761X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZL761X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZL7S91 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZL7S91 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZL7S91 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZL7S91 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZL7S91 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZL7S91 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZL7S91 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZL7S91 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZL7S91 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZL7S91 Cushing disease 5A70.0 Orphanet 96253 TPD-ZLAAKS Noonan syndrome LD2F.15 Orphanet 648 TPD-ZLAAKS Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZLAAKS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZLAAKS Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZLAAKS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZLAAKS Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZLAAKS Lynch syndrome 2B90.Y Orphanet 144 TPD-ZLAAKS Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZLAAKS Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZLAE68 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZLAE68 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZLAE68 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZLAE68 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZLAE68 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZLAE68 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZLAE68 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZLAE68 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZLAE68 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZLCH2T Kennedy disease 8B61.4 Orphanet 481 TPD-ZLCH2T Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZLCH2T Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZLCH2T Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZLEYU1 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZLEYU1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZLEYU1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZLEYU1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZLEYU1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZLEYU1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZLEYU1 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZLEYU1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZLEYU1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZLGVSF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZLGVSF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZLGVSF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZLGVSF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZLGVSF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZLGVSF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZLGVSF Semantic dementia 6D83 Orphanet 100069 TPD-ZLGVSF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZLQKC7 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZLQKC7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZLQKC7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZLQKC7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZLQKC7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZLQKC7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZLQKC7 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZLQKC7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZLQKC7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZLT1LD Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZLT1LD Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZLY9I3 Kennedy disease 8B61.4 Orphanet 481 TPD-ZLY9I3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZLY9I3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZLY9I3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZLYEIG Noonan syndrome LD2F.15 Orphanet 648 TPD-ZLYEIG Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZLYEIG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZLYEIG Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZLYEIG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZLYEIG Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZLYEIG Lynch syndrome 2B90.Y Orphanet 144 TPD-ZLYEIG Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZLYEIG Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZM03WJ Kennedy disease 8B61.4 Orphanet 481 TPD-ZM03WJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZM03WJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZM03WJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZM19MS Noonan syndrome LD2F.15 Orphanet 648 TPD-ZM19MS Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZM19MS Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZM19MS Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZM19MS Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZM19MS Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZM19MS Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZM19MS Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZM19MS Craniopharyngioma 2F9A Orphanet 54595 TPD-ZM19MS Cushing disease 5A70.0 Orphanet 96253 TPD-ZM543V Familial melanoma QC61.Y Orphanet 618 TPD-ZM543V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZMCXUU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZMCXUU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZME4WU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZME4WU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZME4WU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZME4WU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZME4WU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZME4WU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZME4WU Lynch syndrome 2B90.Y Orphanet 144 TPD-ZME4WU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZME4WU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZMK26N Familial melanoma QC61.Y Orphanet 618 TPD-ZMLT5F Nephroblastoma 2C90.Y Orphanet 654 TPD-ZMLT5F Simpson-Golabi-Behmel syndrome LD2C Orphanet 373 TPD-ZMMRGG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZMMRGG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZMMRGG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZMMRGG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZMO75M Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZMO75M Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZMO75M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZMO75M B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZMQKCK Kennedy disease 8B61.4 Orphanet 481 TPD-ZMQKCK Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZMQKCK Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZMQKCK Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZMRL98 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZMRL98 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZMRL98 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZMRL98 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZMSFSS Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZMSFSS Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZMTYIA Kennedy disease 8B61.4 Orphanet 481 TPD-ZMTYIA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZMTYIA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZMTYIA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZMU5K7 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZMU5K7 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZMU5K7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZMU5K7 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZMU5K7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZMU5K7 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZMU5K7 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZMU5K7 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZMU5K7 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZMUAOT Kennedy disease 8B61.4 Orphanet 481 TPD-ZMUAOT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZMUAOT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZMUAOT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZMVX41 Kennedy disease 8B61.4 Orphanet 481 TPD-ZMVX41 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZMVX41 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZMVX41 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZMXVFU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZMXVFU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZMXVFU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZMXVFU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZMXVFU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZMXVFU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZMXVFU Lynch syndrome 2B90.Y Orphanet 144 TPD-ZMXVFU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZMXVFU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZMY2EZ Kennedy disease 8B61.4 Orphanet 481 TPD-ZMY2EZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZMY2EZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZMY2EZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZMY9XK Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZMY9XK Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZMY9XK Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZMYN7J Noonan syndrome LD2F.15 Orphanet 648 TPD-ZMYN7J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZMYN7J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZMYN7J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZMYN7J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZMYN7J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZMYN7J Lynch syndrome 2B90.Y Orphanet 144 TPD-ZMYN7J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZMYN7J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZMZY92 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZMZY92 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZMZY92 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZMZY92 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZMZY92 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZMZY92 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZMZY92 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZMZY92 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZMZY92 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZMZY92 Cushing disease 5A70.0 Orphanet 96253 TPD-ZN0AX6 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZN0AX6 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZN0AX6 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZN0AX6 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZN2XSB Familial melanoma QC61.Y Orphanet 618 TPD-ZN2XSB Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZN3CXG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZN3CXG Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZN3LQ2 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZN3LQ2 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZN3LQ2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZN3LQ2 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZN3LQ2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZN3LQ2 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZN3LQ2 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZN3LQ2 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZN3LQ2 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZN68V5 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZN8MVA Kennedy disease 8B61.4 Orphanet 481 TPD-ZN8MVA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZN8MVA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZN8MVA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZNAUAH Familial melanoma QC61.Y Orphanet 618 TPD-ZNAUAH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZNBOSE Noonan syndrome LD2F.15 Orphanet 648 TPD-ZNBOSE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZNBOSE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZNBOSE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZNBOSE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZNBOSE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZNBOSE Lynch syndrome 2B90.Y Orphanet 144 TPD-ZNBOSE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZNBOSE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZNC1YK CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZNDBJ8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZNDBJ8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZNDBJ8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZNE459 Kennedy disease 8B61.4 Orphanet 481 TPD-ZNE459 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZNE459 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZNE459 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZNED2A Rubinstein-Taybi syndrome due to 16p13.3 microdeletion LD44.G1 Orphanet 353281 TPD-ZNEKRS Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZNFO4E Noonan syndrome LD2F.15 Orphanet 648 TPD-ZNFO4E Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZNFO4E Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZNFO4E Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZNFO4E Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZNFO4E Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZNFO4E Lynch syndrome 2B90.Y Orphanet 144 TPD-ZNFO4E Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZNFO4E Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZNGP23 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-ZNHRPG Noonan syndrome LD2F.15 Orphanet 648 TPD-ZNHRPG Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZNHRPG Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZNHRPG Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZNHRPG Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZNHRPG Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZNHRPG Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZNHRPG Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZNHRPG Craniopharyngioma 2F9A Orphanet 54595 TPD-ZNHRPG Cushing disease 5A70.0 Orphanet 96253 TPD-ZNJ1AL Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZNJECX Kennedy disease 8B61.4 Orphanet 481 TPD-ZNJECX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZNJECX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZNJECX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZNK908 Familial melanoma QC61.Y Orphanet 618 TPD-ZNK908 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZNQU2H Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZNTKIP Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZNV3U1 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZNV3U1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZNV3U1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZNV3U1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZNV3U1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZNV3U1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZNV3U1 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZNV3U1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZNV3U1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZNVFZS Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZNVFZS Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZNY9FU Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZNY9FU Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZNYZI3 Kennedy disease 8B61.4 Orphanet 481 TPD-ZNYZI3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZNYZI3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZNYZI3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZNZB31 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZNZB31 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZNZB31 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZNZB31 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZNZB31 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZNZB31 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZNZB31 Semantic dementia 6D83 Orphanet 100069 TPD-ZNZB31 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZNZPXW Isolated focal cortical dysplasia type IIb LA05.51 Orphanet 269008 TPD-ZNZPXW Isolated focal cortical dysplasia type IIa LA05.51 Orphanet 269001 TPD-ZNZPXW Hemimegalencephaly LA05.1 Orphanet 99802 TPD-ZO0A2H Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-ZO0A2H Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-ZO0A2H Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-ZO5LW3 Familial melanoma QC61.Y Orphanet 618 TPD-ZO5LW3 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZO78NQ Kennedy disease 8B61.4 Orphanet 481 TPD-ZO78NQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZO78NQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZO78NQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZO7HUN Noonan syndrome LD2F.15 Orphanet 648 TPD-ZO7HUN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZO7HUN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZO7HUN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZO7HUN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZO7HUN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZO7HUN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZO7HUN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZO7HUN Craniopharyngioma 2F9A Orphanet 54595 TPD-ZO7HUN Cushing disease 5A70.0 Orphanet 96253 TPD-ZOAAXB Kennedy disease 8B61.4 Orphanet 481 TPD-ZOAAXB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZOAAXB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZOAAXB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZOAVL9 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZOB83L Noonan syndrome LD2F.15 Orphanet 648 TPD-ZOB83L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZOB83L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZOB83L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZOB83L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZOB83L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZOB83L Lynch syndrome 2B90.Y Orphanet 144 TPD-ZOB83L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZOB83L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZOC73I Familial melanoma QC61.Y Orphanet 618 TPD-ZOC73I Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZOHIGC Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZOHIGC Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZOIRYY Familial melanoma QC61.Y Orphanet 618 TPD-ZOIRYY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZOOR07 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZOPZGL Noonan syndrome LD2F.15 Orphanet 648 TPD-ZOPZGL Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZOPZGL Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZOPZGL Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZOPZGL Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZOPZGL Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZOPZGL Lynch syndrome 2B90.Y Orphanet 144 TPD-ZOPZGL Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZOPZGL Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZOR6UT Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-ZOV2GX Noonan syndrome LD2F.15 Orphanet 648 TPD-ZOV2GX Hereditary gingival fibromatosis DA0B.Y Orphanet 2024 TPD-ZOVODR Kennedy disease 8B61.4 Orphanet 481 TPD-ZOVODR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZOVODR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZOVODR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZOWC9O Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZOWC9O Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZOWC9O Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZOWC9O Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZOWC9O Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZOWC9O Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZOWC9O Semantic dementia 6D83 Orphanet 100069 TPD-ZOWC9O Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZOYRZX Noonan syndrome LD2F.15 Orphanet 648 TPD-ZOYRZX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZOYRZX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZOYRZX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZOYRZX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZOYRZX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZOYRZX Lynch syndrome 2B90.Y Orphanet 144 TPD-ZOYRZX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZOYRZX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZP2TMF Noonan syndrome LD2F.15 Orphanet 648 TPD-ZP2TMF Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZP2TMF Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZP2TMF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZP2TMF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZP2TMF Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZP2TMF Lynch syndrome 2B90.Y Orphanet 144 TPD-ZP2TMF Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZP2TMF Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZP5BVN Kennedy disease 8B61.4 Orphanet 481 TPD-ZP5BVN Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZP5BVN Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZP5BVN Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZP71MA Noonan syndrome LD2F.15 Orphanet 648 TPD-ZP71MA Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZP71MA Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZP71MA Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZP71MA Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZP71MA Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZP71MA Lynch syndrome 2B90.Y Orphanet 144 TPD-ZP71MA Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZP71MA Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZP7E6N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZP98X3 Kennedy disease 8B61.4 Orphanet 481 TPD-ZP98X3 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZP98X3 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZP98X3 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZPA711 Kennedy disease 8B61.4 Orphanet 481 TPD-ZPA711 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZPA711 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZPA711 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZPCHEI Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZPCHEI Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZPCHEI Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZPCV3N Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZPCV3N Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZPD7CB Kennedy disease 8B61.4 Orphanet 481 TPD-ZPD7CB Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZPD7CB Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZPD7CB Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZPE2M7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZPE2M7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZPE2M7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZPE2M7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZPE2M7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZPE2M7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZPE2M7 Semantic dementia 6D83 Orphanet 100069 TPD-ZPE2M7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZPF9HT CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZPHDJS Burkitt lymphoma XH4KA9 Orphanet 543 TPD-ZPHDJS Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ZPIXDH Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZPIXDH Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZPK6HC Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZPK6HC Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZPK6HC Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZPK6HC Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZPK6HC Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZPK6HC Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZPK6HC Semantic dementia 6D83 Orphanet 100069 TPD-ZPK6HC Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZPMH4F Kennedy disease 8B61.4 Orphanet 481 TPD-ZPMH4F Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZPMH4F Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZPMH4F Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZPS0OP Noonan syndrome LD2F.15 Orphanet 648 TPD-ZPS0OP Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZPS0OP Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZPS0OP Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZPS0OP Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZPS0OP Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZPS0OP Lynch syndrome 2B90.Y Orphanet 144 TPD-ZPS0OP Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZPS0OP Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZPST33 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-ZPZC6K Noonan syndrome LD2F.15 Orphanet 648 TPD-ZPZC6K Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZPZC6K Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZPZC6K Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZPZC6K Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZPZC6K Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZPZC6K Lynch syndrome 2B90.Y Orphanet 144 TPD-ZPZC6K Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZPZC6K Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZQ84H0 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZQ84H0 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZQ84H0 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZQB8BR Kennedy disease 8B61.4 Orphanet 481 TPD-ZQB8BR Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQB8BR Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQB8BR Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQCG1I Noonan syndrome LD2F.15 Orphanet 648 TPD-ZQCG1I Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZQCG1I Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZQCG1I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZQCG1I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZQCG1I Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZQCG1I Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZQCG1I Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZQCG1I Craniopharyngioma 2F9A Orphanet 54595 TPD-ZQCG1I Cushing disease 5A70.0 Orphanet 96253 TPD-ZQG57U Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZQG57U Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZQG57U Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZQGNAF Kennedy disease 8B61.4 Orphanet 481 TPD-ZQGNAF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQGNAF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQGNAF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQGRGW Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZQGRGW Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZQJNLM Kennedy disease 8B61.4 Orphanet 481 TPD-ZQJNLM Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQJNLM Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQJNLM Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQJSKE Kennedy disease 8B61.4 Orphanet 481 TPD-ZQJSKE Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQJSKE Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQJSKE Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQJZHB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZQJZHB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZQJZHB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZQJZHB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZQKSW5 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZQQX3Q Kennedy disease 8B61.4 Orphanet 481 TPD-ZQQX3Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQQX3Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQQX3Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQS4R6 Kennedy disease 8B61.4 Orphanet 481 TPD-ZQS4R6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZQS4R6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZQS4R6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZQUI0D Noonan syndrome LD2F.15 Orphanet 648 TPD-ZQUI0D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZQUI0D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZQUI0D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZQUI0D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZQUI0D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZQUI0D Lynch syndrome 2B90.Y Orphanet 144 TPD-ZQUI0D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZQUI0D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZQUKBC Parkinsonian-pyramidal syndrome 8A00.1Y Orphanet 171695 TPD-ZQUKBC Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-ZQYQ3W Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZR803V Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZR803V Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZRAHP5 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZRAHP5 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZRAHP5 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZRAHP5 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZRAHP5 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZRAHP5 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZRAHP5 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZRAHP5 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZRAHP5 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZRGZVD Kennedy disease 8B61.4 Orphanet 481 TPD-ZRGZVD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZRGZVD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZRGZVD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZRJG2B Noonan syndrome LD2F.15 Orphanet 648 TPD-ZRJG2B Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZRJG2B Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZRJG2B Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZRJG2B Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZRJG2B Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZRJG2B Lynch syndrome 2B90.Y Orphanet 144 TPD-ZRJG2B Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZRJG2B Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZRKZMC Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZROFP9 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZROFP9 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZROFP9 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZROFP9 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZROFP9 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZROFP9 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZROFP9 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZROFP9 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZROFP9 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZROFP9 Cushing disease 5A70.0 Orphanet 96253 TPD-ZRPZKQ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZRRC6T Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-ZRRC6T Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-ZRRC6T Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZRRC6T Distal myopathy, Welander type 8C75 Orphanet 603 TPD-ZRRDQV Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZRRDQV Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZRRDQV B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZRRDQV B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZRSBAZ Kennedy disease 8B61.4 Orphanet 481 TPD-ZRSBAZ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZRSBAZ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZRSBAZ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZRWA1X Kennedy disease 8B61.4 Orphanet 481 TPD-ZRWA1X Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZRWA1X Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZRWA1X Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZRZAPF Kennedy disease 8B61.4 Orphanet 481 TPD-ZRZAPF Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZRZAPF Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZRZAPF Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZRZI6I Noonan syndrome LD2F.15 Orphanet 648 TPD-ZRZI6I Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZRZI6I Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZRZI6I Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZRZI6I Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZRZI6I Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZRZI6I Lynch syndrome 2B90.Y Orphanet 144 TPD-ZRZI6I Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZRZI6I Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZS5PWD Kennedy disease 8B61.4 Orphanet 481 TPD-ZS5PWD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZS5PWD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZS5PWD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZS61V2 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZS61V2 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZS61V2 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZS61V2 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZS6OLJ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZS6OLJ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZS6OLJ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZSFSZN Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZSFSZN Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZSFSZN Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZSIOAF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZSKT4L Kennedy disease 8B61.4 Orphanet 481 TPD-ZSKT4L Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZSKT4L Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZSKT4L Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZSMFSX Kennedy disease 8B61.4 Orphanet 481 TPD-ZSMFSX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZSMFSX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZSMFSX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZSPC3L Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZSPC3L Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZSPC3L Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZSS0RU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZSS0RU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZSS0RU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZSS0RU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZSS0RU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZSS0RU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZSS0RU Lynch syndrome 2B90.Y Orphanet 144 TPD-ZSS0RU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZSS0RU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZSYWH8 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZSYWH8 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZT098Q Kennedy disease 8B61.4 Orphanet 481 TPD-ZT098Q Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZT098Q Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZT098Q Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZT1MPD Hirschsprung disease LB16.1 Orphanet 388 TPD-ZT1MPD Extramammary Paget disease 2E64.1 Orphanet 2800 TPD-ZT1MPD Adenocarcinoma of the oesophagus and oesophagogastric junction 2B70.0 Orphanet 99976 TPD-ZT2ORX Kennedy disease 8B61.4 Orphanet 481 TPD-ZT2ORX Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZT2ORX Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZT2ORX Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZT2TNQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZT2TNQ Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZT2TNQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZT2W98 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZT4KGS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZT4KGS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZT4KGS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZT4KGS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZT4S7K Kennedy disease 8B61.4 Orphanet 481 TPD-ZT4S7K Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZT4S7K Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZT4S7K Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZT6Z2M X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZT6Z2M Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZT8ESJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZT8W8G Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZT8W8G Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZT8W8G B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZTALXD Kennedy disease 8B61.4 Orphanet 481 TPD-ZTALXD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZTALXD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZTALXD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZTC9SW Kennedy disease 8B61.4 Orphanet 481 TPD-ZTC9SW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZTC9SW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZTC9SW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZTE5QO Familial melanoma QC61.Y Orphanet 618 TPD-ZTE5QO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZTFSHF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZTL43R CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZTLFX6 Kennedy disease 8B61.4 Orphanet 481 TPD-ZTLFX6 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZTLFX6 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZTLFX6 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZTMSMG Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZTMSMG Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZTMSMG B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZTMSMG B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZTNFSG Kennedy disease 8B61.4 Orphanet 481 TPD-ZTNFSG Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZTNFSG Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZTNFSG Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZTOI8G Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZTOI8G Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZTOI8G Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZTOXGY Familial melanoma QC61.Y Orphanet 618 TPD-ZTOXGY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZTU38Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZTU38Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZTU38Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZTU38Q Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZTU38Q Neuroblastoma 2A00.11 Orphanet 635 TPD-ZTU38Q Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-ZTU38Q ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-ZTU38Q ALK-positive anaplastic large cell lymphoma 2A90.A Orphanet 300895 TPD-ZTU38Q Cholangiocarcinoma 2C12.10 Orphanet 70567 TPD-ZTVUXW Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZTVUXW Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZTVUXW B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZTVUXW B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZTWFI3 Familial melanoma QC61.Y Orphanet 618 TPD-ZU03GE Noonan syndrome LD2F.15 Orphanet 648 TPD-ZU03GE Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZU03GE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZU03GE Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZU03GE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZU03GE Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZU03GE Lynch syndrome 2B90.Y Orphanet 144 TPD-ZU03GE Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZU03GE Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZUBTTH Familial melanoma QC61.Y Orphanet 618 TPD-ZUBTTH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZUBUWV Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZUD3YD Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZUDGZY Kennedy disease 8B61.4 Orphanet 481 TPD-ZUDGZY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZUDGZY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZUDGZY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZUEZIE Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZUEZIE Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZUEZIE Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZUEZIE Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZUEZIE Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZUEZIE Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZUEZIE Semantic dementia 6D83 Orphanet 100069 TPD-ZUEZIE Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZUG0G1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZUG0G1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZUI26M Familial melanoma QC61.Y Orphanet 618 TPD-ZUI26M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZUKZZ1 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZUOE7X Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZUOE7X Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZUPB4T Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZUPB4T Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZUPB4T Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZURIU4 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZURIU4 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZUVGWY Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZUVGWY Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZUVGWY B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZUXH7D Noonan syndrome LD2F.15 Orphanet 648 TPD-ZUXH7D Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZUXH7D Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZUXH7D Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZUXH7D Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZUXH7D Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZUXH7D Lynch syndrome 2B90.Y Orphanet 144 TPD-ZUXH7D Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZUXH7D Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZUXTG9 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZUXTG9 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZUXTG9 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZV5SS4 Kennedy disease 8B61.4 Orphanet 481 TPD-ZV5SS4 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZV5SS4 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZV5SS4 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZVBM1P Kennedy disease 8B61.4 Orphanet 481 TPD-ZVBM1P Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZVBM1P Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZVBM1P Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZVGXQX Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZVGXQX Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZVICTJ Noonan syndrome LD2F.15 Orphanet 648 TPD-ZVICTJ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZVICTJ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZVICTJ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZVICTJ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZVICTJ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZVICTJ Lynch syndrome 2B90.Y Orphanet 144 TPD-ZVICTJ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZVICTJ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZVJJFU Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZVJJFU Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZVJJFU Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZVKGWI Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZVKGWI Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZVL961 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZVL961 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZVPYY4 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZVPYY4 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZVPYY4 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZVPYY4 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZVPYY4 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZVPYY4 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZVPYY4 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZVPYY4 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZVPYY4 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZVQRL7 Kennedy disease 8B61.4 Orphanet 481 TPD-ZVQRL7 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZVQRL7 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZVQRL7 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZVRPL9 Kennedy disease 8B61.4 Orphanet 481 TPD-ZVRPL9 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZVRPL9 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZVRPL9 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZVUWQG Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZVXV3W Noonan syndrome LD2F.15 Orphanet 648 TPD-ZVXV3W Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZVXV3W Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZVXV3W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZVXV3W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZVXV3W Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZVXV3W Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZVXV3W Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZVXV3W Craniopharyngioma 2F9A Orphanet 54595 TPD-ZVXV3W Cushing disease 5A70.0 Orphanet 96253 TPD-ZW01Q7 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZW01Q7 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZW01Q7 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZW01Q7 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZW01Q7 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZW01Q7 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZW01Q7 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZW01Q7 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZW01Q7 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZW01Q7 Cushing disease 5A70.0 Orphanet 96253 TPD-ZW1IPT Kennedy disease 8B61.4 Orphanet 481 TPD-ZW1IPT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZW1IPT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZW1IPT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZW3YZD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZW3YZD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZW99BX CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZWEMUJ Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZWJ8YH Kennedy disease 8B61.4 Orphanet 481 TPD-ZWJ8YH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZWJ8YH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZWJ8YH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZWLO5T Familial melanoma QC61.Y Orphanet 618 TPD-ZWLO5T Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZWOF1M Familial melanoma QC61.Y Orphanet 618 TPD-ZWOF1M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZWQS99 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZWQS99 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZWQS99 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZWQS99 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZWUGK2 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZWUGK2 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZWUGK2 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZWVTLW Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZWVTLW Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZWVTLW Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZWX00H Familial melanoma QC61.Y Orphanet 618 TPD-ZWX00H Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZWX4ZG X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZWX4ZG Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZWXO9A Familial melanoma QC61.Y Orphanet 618 TPD-ZWXO9A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZWY4DN Noonan syndrome LD2F.15 Orphanet 648 TPD-ZWY4DN Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZWY4DN Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZWY4DN Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZWY4DN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZWY4DN Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZWY4DN Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZWY4DN Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZWY4DN Craniopharyngioma 2F9A Orphanet 54595 TPD-ZWY4DN Cushing disease 5A70.0 Orphanet 96253 TPD-ZWYK6R Kennedy disease 8B61.4 Orphanet 481 TPD-ZWYK6R Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZWYK6R Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZWYK6R Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZX3FJA Kennedy disease 8B61.4 Orphanet 481 TPD-ZX3FJA Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZX3FJA Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZX3FJA Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZX954Y Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZX954Y Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZX954Y Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZXCJFU Kennedy disease 8B61.4 Orphanet 481 TPD-ZXCJFU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZXCJFU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZXCJFU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZXCKNN X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZXCKNN Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZXD69V Familial melanoma QC61.Y Orphanet 618 TPD-ZXD69V Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZXDPCU X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZXDPCU Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZXFVBU Kennedy disease 8B61.4 Orphanet 481 TPD-ZXFVBU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZXFVBU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZXFVBU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZXMCDE Noonan syndrome LD2F.15 Orphanet 648 TPD-ZXMCDE Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZXMCDE Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZXMCDE Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZXMCDE Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZXMCDE Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZXMCDE Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZXMCDE Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZXMCDE Craniopharyngioma 2F9A Orphanet 54595 TPD-ZXMCDE Cushing disease 5A70.0 Orphanet 96253 TPD-ZXOYEB Noonan syndrome LD2F.15 Orphanet 648 TPD-ZXOYEB Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZXOYEB Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZXOYEB Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZXOYEB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZXOYEB Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZXOYEB Lynch syndrome 2B90.Y Orphanet 144 TPD-ZXOYEB Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZXOYEB Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZXPD54 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZXPD54 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZXPD54 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZXQSR3 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZXQSR3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ZXQSR3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZXQSR3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ZXQSR3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZXQSR3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ZXQSR3 Lynch syndrome 2B90.Y Orphanet 144 TPD-ZXQSR3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ZXQSR3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ZXU2CN Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZXU2CN Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZXU2CN B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZXU2CN B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZXUL7O Familial melanoma QC61.Y Orphanet 618 TPD-ZXVFY7 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZXVFY7 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZXW5EU Noonan syndrome LD2F.15 Orphanet 648 TPD-ZXW5EU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZXW5EU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZXW5EU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZXW5EU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZXW5EU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZXW5EU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZXW5EU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZXW5EU Craniopharyngioma 2F9A Orphanet 54595 TPD-ZXW5EU Cushing disease 5A70.0 Orphanet 96253 TPD-ZXWU4C Kennedy disease 8B61.4 Orphanet 481 TPD-ZXWU4C Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZXWU4C Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZXWU4C Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZXZ398 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZY0DID Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZY0DID Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZY0DID Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZY0HBW Kennedy disease 8B61.4 Orphanet 481 TPD-ZY0HBW Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZY0HBW Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZY0HBW Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZY4C0S X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZY4C0S Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZY6CB7 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZY6CB7 Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZY6CB7 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZY6CB7 B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZY9GBQ Kennedy disease 8B61.4 Orphanet 481 TPD-ZY9GBQ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZY9GBQ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZY9GBQ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZY9KK3 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZY9MXT Familial melanoma QC61.Y Orphanet 618 TPD-ZY9MXT Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZYAO5L Noonan syndrome LD2F.15 Orphanet 648 TPD-ZYAO5L Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZYAO5L Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZYAO5L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZYAO5L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZYAO5L Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZYAO5L Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZYAO5L Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZYAO5L Craniopharyngioma 2F9A Orphanet 54595 TPD-ZYAO5L Cushing disease 5A70.0 Orphanet 96253 TPD-ZYD4AT Kennedy disease 8B61.4 Orphanet 481 TPD-ZYD4AT Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZYD4AT Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZYD4AT Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZYDGCY Kennedy disease 8B61.4 Orphanet 481 TPD-ZYDGCY Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZYDGCY Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZYDGCY Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZYL2KH Kennedy disease 8B61.4 Orphanet 481 TPD-ZYL2KH Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZYL2KH Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZYL2KH Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZYMNF9 Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZYN11N Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZYN11N Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZYN11N Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZYNKPU Kennedy disease 8B61.4 Orphanet 481 TPD-ZYNKPU Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZYNKPU Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZYNKPU Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZYOBXB Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZYRH37 Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZYRH37 Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-ZYRH37 Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZYSR1W Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZYSR1W Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZYSSLB Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZYSSLB Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZYSSLB B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZYSSLB B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZYV9I8 Coffin-Siris syndrome LD27.0Y Orphanet 1465 TPD-ZYVSN2 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZYVSN2 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZYWH8Q Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZYWH8Q Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZYWH8Q Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZYZU0M Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZYZU0M Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZYZU0M Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZZ18MF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-ZZ18MF Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-ZZ5Y51 Kennedy disease 8B61.4 Orphanet 481 TPD-ZZ5Y51 Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZZ5Y51 Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZZ5Y51 Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZZ63UR Familial melanoma QC61.Y Orphanet 618 TPD-ZZ63UR Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZZ6QFZ Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-ZZ6QFZ Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-ZZ6QFZ Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-ZZB1OQ Follicular lymphoma 2A80/2A80.0/2A80.1/2A80.2/2A80.4/2A80.5/2A80.6/2A80.Y Orphanet 545 TPD-ZZB1OQ Intravascular large B-cell lymphoma 2A81.1 Orphanet 98839 TPD-ZZF0EO Familial melanoma QC61.Y Orphanet 618 TPD-ZZF0EO Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZZGVDY Familial melanoma QC61.Y Orphanet 618 TPD-ZZGVDY Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZZHLLD Kennedy disease 8B61.4 Orphanet 481 TPD-ZZHLLD Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZZHLLD Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZZHLLD Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZZMSJK Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-ZZMSJK Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-ZZMZEV Kennedy disease 8B61.4 Orphanet 481 TPD-ZZMZEV Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZZMZEV Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZZMZEV Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZZO60O Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-ZZPKX2 Noonan syndrome LD2F.15 Orphanet 648 TPD-ZZPKX2 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-ZZPKX2 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-ZZPKX2 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ZZPKX2 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ZZPKX2 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-ZZPKX2 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-ZZPKX2 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-ZZPKX2 Craniopharyngioma 2F9A Orphanet 54595 TPD-ZZPKX2 Cushing disease 5A70.0 Orphanet 96253 TPD-ZZQMMJ Kennedy disease 8B61.4 Orphanet 481 TPD-ZZQMMJ Partial androgen insensitivity syndrome LD2A.4 Orphanet 90797 TPD-ZZQMMJ Non-syndromic posterior hypospadias LB53.2/LB53.3/LB53.4 Orphanet 95706 TPD-ZZQMMJ Complete androgen insensitivity syndrome LD2A.4 Orphanet 99429 TPD-ZZQTPF Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-ZZQTPF Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-ZZQTPF Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-ZZQTPF Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-ZZQTPF Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-ZZQTPF Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-ZZQTPF Semantic dementia 6D83 Orphanet 100069 TPD-ZZQTPF Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-ZZQZCP Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZZS6EK Brachydactyly-arterial hypertension syndrome LD24.8Y Orphanet 1276 TPD-ZZTOQ0 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-ZZTOQ0 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-ZZTTA2 Aneurysm-osteoarthritis syndrome LD28.0Y Orphanet 284984 TPD-ZZTTA2 Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-ZZTTA2 Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-ZZYFRS Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 4A01.1Y Orphanet 317473 TPD-ZZYFRS Stevens-Johnson syndrome EB13.0 Orphanet 36426 TPD-ZZYFRS B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZZYFRS B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-ZZZVZR Weaver syndrome LD2C Orphanet 3447 TPD-PCBVIQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UQ05UU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LFN6D0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X8S4O3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6FLM2C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GLQDBO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VH8DQ0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ERZW9S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8KNVWI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TDAGCR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GVGHLI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X5OPPJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MGXQ2Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JK2W52 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ARWONA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PT3ME9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JNZVLS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S74KU4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7W0HD6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MFW0G9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RHVDK2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-47ESUE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EA87SU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NEDYQ3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-66E14F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-91BZW9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U2SKU5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZP6KGO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OHZQQX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JV9MHW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D0RVWV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7PTRG4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0QJ9OZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MOPLZP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RHF6QO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UCUXCS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FC7ASY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1R79I2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5CN5LM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HT3DVJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FWTZD3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9E1K1I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TWXME3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A3GG88 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5O17JY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-52GJIU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6ZX6I7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0YSW66 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B632KS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TCQX2S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N0W7TJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z1N52N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NHPKRM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G968OI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZYDGCY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AUSFL9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GP0RHI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X8XJSX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6G56BK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VWLTLJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VPF1XA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MLGKAE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3KCEVY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-THKVNC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5TYJN2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D78IZM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XV1DKB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LGQVQ4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MOLHW3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GBGB6X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-60T553 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WWKROG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DNRCEO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SCFOVE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MHPVST Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OP19UJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P8VG1M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-899HV2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5AR2A9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2Q8UMJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-82RXOQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V5ZPAT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LVJ21R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-09T7PC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BAUDOW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QHS3GN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ELRSPV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IEPJCZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H1G316 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZSMFSX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7LUKTK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DN2TF2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FE4X5T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MZ7M29 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0B9Z1T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S96EU6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PMNY3E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4WBQMQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LISN47 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-795WFS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O49PGG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VJJXW9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EVS1GM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RPT90G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9578TR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8CHOK8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SAVOZP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2HCNTG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VC42OV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZIF28F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7CYQ9U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q0JO8A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NF05O8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VJ5EUS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J1R1J9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LOIX7X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FQEVHO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NZKG9C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-19B2OB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SCZYXS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R5XN2A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4EDJZR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KO1A25 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G1C92M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7JJUGI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O00DKY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5UQ58W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S38LCC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SXEIE2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BIHZYS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3MURLE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V0Z1C0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WYTV7V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EZ9H3L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-86U90S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5V4MSJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-937IEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ADT84T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PR2HFJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CAIB1M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SJW4WP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LXQJ8H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GIRC8A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1C67WC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A669EM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZMTYIA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-34Q16N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D85T5F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9RIE0D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KWCR4O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-93JAGZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R6NUFW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OM4TWH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1B4XB6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7US3HP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RV9HWJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DLIXU6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OL6XAB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2DWI9W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9DLZ71 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TIE5J3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XKI2J4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KBDLQM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9F2GIG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VLOJU3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CRK0JM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0VPTLW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VXD994 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CJX699 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HVAL7S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SR4MPA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CG2LIQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AHR4B0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3DZ0VS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TE1YQB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WENW2D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LSY1Z0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WHTUZB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4S55PV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7ITD39 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HVNJQJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XCSTE8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7BIMXE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S9GCG5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-94PYUC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IFLONN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GKT4ZG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J5Y8UL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7G43VM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D9QEL8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L7P7UD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3GWR6Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3MOAUN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5U7W9F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FJT3TY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-03XC9G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XDDREI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3P3WN7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RL36MN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L0E3UB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TSVUKA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M3BICE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S84AAY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HKZXBN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G9IS6Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RZSP3F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XK5G5Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-77WZXA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JAJRID Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AVAH6N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZNED2A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VY86TL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TRRILI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EBBIEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7DIZLQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VUZSKL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-20KKFA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HEUZ57 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DVEAU9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NPIEXE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9JP6XQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ALZJ46 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JYLOI3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RVPKL5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8UBM8U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I6C8H9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BFXQ2G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-808VR7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MVVFI1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SQEJS6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1RE1K6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J2HNMZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L78EXD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0DI0T5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-68MM0P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NFCXEX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5KTEXU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2GWLR1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PIKVPT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XEFKZB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UII9IC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S0EH0C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A74BY9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T2J6MJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PJC3ZX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WRX3RW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BKRI9U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G6DW03 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZF2FLE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5WM7JC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-15ZEGH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VSU1I4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K6UZK1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J5KTYF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OFLD9F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1VDMKT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-81JLEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3IG5YV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U1IT2Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VQS0YY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2CR71L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CD841H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8FX5FV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-902YL8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KNZSZ0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5ZPEHG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KEX5B1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YD5FO0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WGSAHB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BVHFL3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JPR16S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SYS3QK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9EBPOH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WQEG5F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U0QN7V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MBAR2Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GBVHHR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-70NS3Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R04CDL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1JL9NN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4017JC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8PI103 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VY03T7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F1KWNT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8PV8YO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U9BYNW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U1QHPV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EXDI8Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4AAWQ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-64PGTI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X75RQL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EAYABE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0H423W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7CW0G5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U6MAO0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-41BOAP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3QRO26 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E1TGBB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CIYW6B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-54UYH2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QFVZJ0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P3FBP5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7MAH7K Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-2EC1E7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9W2K2P Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Z68623 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-5BX1XC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NJ8567 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-OIZY75 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ZC3780 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6VN3JU Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-OZOBLG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EDYLNQ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-PON4QQ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6TBX0Z Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6TXZ42 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GD9CPK Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7T5AFD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-05R1TZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-SPLQNM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WZ0N76 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7QUTKX Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-LQO0ST Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-4F4450 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EE3ZSG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-RWF9EE Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-IBIFDL Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-X0GEZ4 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-BBZFVU Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-IND79J Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-DM2IOO Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-WY4RHV Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-RD6VW0 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-UOLDU3 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-9ZHV33 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-9NCTXB Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-5BQRX1 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-OKH4PU Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-RZ116C Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-ZPHDJS Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-9MFPJK Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-UTO5WB Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-T4B7UR Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-FINO6K Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-7SMKTG Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-A6KG63 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-JN4UA5 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-GHO0T1 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-BTJSLN Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-E6T2MJ Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-P3P0JK Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-ON9FHH Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-XBKJLP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-OAO512 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-D533FA Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-C3UKFJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-B4792I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-22XHSM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NXULO4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-KC27HA Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-C4UQE4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-IY2VY7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GOO7PT Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-4O0URX Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VU4KYW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GNVDXL Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-RCDKEH Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6IM03U Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-UDNOFS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QD1L2G Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-4BRLNX Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VH5AL2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-PP3VBR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GTOSAN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-23NDHO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-698ULC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0AX3HB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ZBKTXG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-SN3O1Y Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EUC82K Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WIULG7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ZANHO1 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-IGDIXZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H5WS51 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-5QJSE9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-12WPAM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Y1VE3N Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DO7ZCP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QPYO5A Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-BJ4PGK Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VUMD22 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9YN2MS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-RVHMUN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VB07S8 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-90N5R6 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-TZDFZU Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-JO2HSK Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NU96TN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MZ80DS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-S42Y31 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H4WN6T Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H0V9UA Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MOZKO8 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-K6A2SP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-M5RNR8 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-AEFPIW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-SL3SNB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-C4LODP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-P99MHO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6URM28 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H9PLSO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-44A3MS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-50E21H Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-UP2UAB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-D50L9U Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GYK956 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-I9S0SP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-R8496O Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0WJGQT Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-8L1QKD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CTDGGZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-LR9JOO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Y01MZI Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-FDUYJI Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-54BYA2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CPR7GD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NA4W6T Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-W6Q6Q4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7D4V30 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-PF4097 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-4AZZ9T Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-FAGXEM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-D4OMKV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-3ILD8R Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YOEF7Y Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YLZVOP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-71T2E9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-36IPH3 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-X742OQ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-P8UEOR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ADM9XG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DZUWSI Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-44BAGC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VOFDDM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-FRDOGJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YE5YVD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-10V37Y Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-FVNI4C Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MP3X7Q Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-718L73 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-44NMTD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1MD3N7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-74GUTE Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HQ0ZX5 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-5AQKYN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-03KTQE Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-LW7PLC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-JMMW1J Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-W60PIV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-BJEZW1 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9JWTV9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-XNKBD8 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NH1J7H Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WKM9JE Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-2Q9ULI Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YNOXG4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-SVAEGV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9GXKML Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-5FSZG4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-6WZLY4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1INH4U Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0EBXKY Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YWKIFH Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9WCQYT Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WC9LGM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QEZ671 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-254LPH Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QR4JQS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-N6MENJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HE2S58 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-2LPC1K Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-KHXTZP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0D0Y8Z Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-B6TIYQ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-8R7W41 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Y0FBQR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0X4J5M Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-S1L2VL Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1SBDEB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-4CZLI4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NFEQ9Z Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-XCR6VL Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-0GMX0A Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DMECA9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-XX0WX5 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-UWN4VA Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-2RFYN8 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-UJ4TNP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ZZPKX2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-30E7JR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DJSHL6 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-8Z0K57 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-W9XPSB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MJQT7A Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WFQQKS Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MOJHD9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-TOXK3I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-98A4ZW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HJ3TBR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EB7TI5 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-XHUIFZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EW81HV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GBDSL2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-83IYJW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-GP64UC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Z266EJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-3UXZJD Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1GOYGG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-IP3DKO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-BQBGZM Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-LQ8VN3 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-71MH5O Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DIU67Q Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-J6VNAC Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EQ9JM9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1F59H5 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-PNBI8G Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-EVMIW2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-G3JPF0 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-VIFQV9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Z8IFWG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QU13QO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-AV118N Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-OV3W5S Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7GD1BV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-B7U64L Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-KD3DT4 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-KPG7UV Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-XX28I7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-SYG6BZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9EYFWJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1G5JEE Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HT4HJJ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-OTL7W9 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CPHG73 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7GCXBZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-LN2ODP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-JUJZVW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HVZ27F Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-HRRPUN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-N38DZ5 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-7SBHSW Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-DIDCNN Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-Z7DUXU Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1ZOVYG Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-UXF2EB Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-9455K3 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-ZQCG1I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-W7L90I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NOI4I6 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-WVSYQF Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-A8YAN6 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-QLWYI7 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-3I31EK Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H1YOZO Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-F79MZZ Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CV2JGR Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CQBVQE Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-1AETO6 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-YGQWZ2 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-MN4KUP Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-H87ALF Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-W1O8C0 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-BE83OU Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-NWQE4I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-BMS87I Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-AD8L4K Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-CQN0FF Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-TU9F23 Amelanotic melanoma XH3TK1 Cellosaurus C3802 TPD-PKDI3W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-01E67F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8LKJXS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-C31VQV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E6B6YH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FWIBTM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8K0O8T Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AI4FTL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PQVQUK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GQ7KAX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZB5KH5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QD40BT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VGPZLG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T6TCFY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-V7I2WM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K56VML Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6OJA3R Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9FS2K7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ROJWC3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CB461N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OMKS0Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6RLL4D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O9G3ZB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7KZ6LE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SP82OO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QUXU9U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DS8Z49 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UFK9OT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HT2TGC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0RSC9B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PNLDXU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XDTEZN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FM8H26 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JHO0S6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-29YCMF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1IOKKZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TFS64Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9ZE1Z3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HF37JS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UR682Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LWKZJX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R3ABPC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YPE1RY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4SVV1T Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ELODRZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E2X3VB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S9OZN0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X757PQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6PETRC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5S8GPQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ICIEL8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6FSKTW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R71868 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FRTKUD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AADH7A Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FU3OSA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HEOCYU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JTPEUH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-D0ALGZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3MGHU9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LTNOLZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZU03GE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GNH771 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DO0EES Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UPWG1L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E4TTF8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0D03HI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EONF1Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E2ZT0H Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-EIBLJO Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-XWMYJX Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-06ZUYQ Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-AEDQ42 Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-8HML69 Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-VJIG58 Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-MO464E Skin squamous cell carcinoma 2C31 Cellosaurus C4819 TPD-UYX5KC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9Y0C12 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LXK3SK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-J39BAQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IT4B9U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BGGEOC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UOW4MH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AF01N5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RA7VYY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3EFS4J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H2B75G Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1F3HW0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IK9IIB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KCTSGF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TQO03Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2914XA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4M9RYJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RSB02N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SEDQPF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-25GUHQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DDIZSV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9CHE9Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-115CK4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FWX60B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X5MENE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YSCJ7U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JOFWYA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NYX5B5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WI8THB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WS9P5Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Y3IMPJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7IHN3X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9HNARD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S9B361 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8O5H8S Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P57IIM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HUKE2O Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-F7UAFK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VIXCXK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YBWUDJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VVA70G Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LHDW8S Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PPD40N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BNDDH4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FNQCQL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-18F8A7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RJHT21 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MIYDQ8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X8L5S7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VNU6UM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JFVBR1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-86YMG4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HD1N0F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YMAC5H Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3XHHTX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5XH0EA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BOY65K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CXR516 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0WKJEJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2LA86T Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XYL4L5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KXITQY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZZN4BE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KKZOW0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GFA97Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EH2I6I Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PTSXGR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UVUWNJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6OVBDR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4879XC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JYK5KB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6RC7TJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z68HVD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5WWEEV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8VZ8W0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X46UUY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YC7P0P Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3QR5A8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XSRCBA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-V2CC7W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PJZAU4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QWTYYQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BWDB5O Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9KSXH2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EVTVIV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BCYN0V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z8WTMN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XZ7535 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H71B5B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DNZCPR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0LREBG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5UN166 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-I4KLIN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TP75OG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DN09UB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UZSGEC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NA4EQC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z3Z1Z9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4W3D30 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ETEC69 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RWARID Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AB1B3H Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Y16MKP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WGIG32 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-99ZEJA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S406R2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8MACRJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K2YUNM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1YOFBE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GOBNPI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-B9SZSM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4UVSI4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4ZHN4Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AUK5P8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XE1QKE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-55QU5L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZRCJK3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QBLMXE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NGOHQ3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ET27IU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3MB0TH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MLNZSL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3UYWTT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZGVBVI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YC8CPZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LMKZ6V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q0NWB7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IJNCRS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T8X8TP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W0WZ8X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4FFP8K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8BC4TH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QM36HU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LWM151 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HDU8KA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P5WAL7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AROEIR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-D6BQN2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QZHAET Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G41Y9B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G9B6NJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LF384X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VRY5VK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-82B28C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5OXU4U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-U6E20F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-836LTU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-D3OZVL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9X1YLZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W86CGB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VOKHS2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K8H6HP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-L12WVQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8Y3A4W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2KW4AP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OVFSMD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QMSGH2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-U30EXG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KR89CB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HVMU8E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VNBACB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DQZEWZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2KITBN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X7M15Q Ewing sarcoma 2B52 Cellosaurus C4817 TPD-4KFLOV Ewing sarcoma 2B52 Cellosaurus C4817 TPD-JAJD6G Ewing sarcoma 2B52 Cellosaurus C4817 TPD-756JVG Ewing sarcoma 2B52 Cellosaurus C4817 TPD-82YJFQ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-P665RG Ewing sarcoma 2B52 Cellosaurus C4817 TPD-TMCCYH Ewing sarcoma 2B52 Cellosaurus C4817 TPD-4MO2W7 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-F1N7DJ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-CQ6L7B Ewing sarcoma 2B52 Cellosaurus C4817 TPD-67VB20 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-XNB4UM Ewing sarcoma 2B52 Cellosaurus C4817 TPD-MLBW70 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-CZWSLZ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-9OYBDK Ewing sarcoma 2B52 Cellosaurus C4817 TPD-ORBEOJ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-WVFRO6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-VWUYMY Ewing sarcoma 2B52 Cellosaurus C4817 TPD-N1JNDR Ewing sarcoma 2B52 Cellosaurus C4817 TPD-ZU80UU Ewing sarcoma 2B52 Cellosaurus C4817 TPD-R34YPF Ewing sarcoma 2B52 Cellosaurus C4817 TPD-JB1VH8 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-D0FS3K Ewing sarcoma 2B52 Cellosaurus C4817 TPD-15EEGB Ewing sarcoma 2B52 Cellosaurus C4817 TPD-SICYN6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-ZM1YW0 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-UEOILL Ewing sarcoma 2B52 Cellosaurus C4817 TPD-J6RKG6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-TPGUUC Ewing sarcoma 2B52 Cellosaurus C4817 TPD-6RW3NO Ewing sarcoma 2B52 Cellosaurus C4817 TPD-W7BYV6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-P9RNHW Ewing sarcoma 2B52 Cellosaurus C4817 TPD-1P6IZF Ewing sarcoma 2B52 Cellosaurus C4817 TPD-BNVOIY Ewing sarcoma 2B52 Cellosaurus C4817 TPD-475OAU Ewing sarcoma 2B52 Cellosaurus C4817 TPD-V8OQR2 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-635GDO Ewing sarcoma 2B52 Cellosaurus C4817 TPD-6OISUN Ewing sarcoma 2B52 Cellosaurus C4817 TPD-6GANKV Ewing sarcoma 2B52 Cellosaurus C4817 TPD-ILE9G6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-6UGHMB Ewing sarcoma 2B52 Cellosaurus C4817 TPD-7WSHQL Ewing sarcoma 2B52 Cellosaurus C4817 TPD-1N2RYT Ewing sarcoma 2B52 Cellosaurus C4817 TPD-D59F08 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-U3L2P8 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-YHKYZA Ewing sarcoma 2B52 Cellosaurus C4817 TPD-J2NUX1 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-VHI46I Ewing sarcoma 2B52 Cellosaurus C4817 TPD-RORMB2 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-NQNNBC Ewing sarcoma 2B52 Cellosaurus C4817 TPD-9R72BZ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-GEOW37 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-GBZQ2Q Ewing sarcoma 2B52 Cellosaurus C4817 TPD-IE9I5K Ewing sarcoma 2B52 Cellosaurus C4817 TPD-JZWMCH Ewing sarcoma 2B52 Cellosaurus C4817 TPD-A58J0A Ewing sarcoma 2B52 Cellosaurus C4817 TPD-VB6UZT Ewing sarcoma 2B52 Cellosaurus C4817 TPD-HK4INB Ewing sarcoma 2B52 Cellosaurus C4817 TPD-RKCL42 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-AMVNK2 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-FURCG4 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-O4VWUP Ewing sarcoma 2B52 Cellosaurus C4817 TPD-NYDAVE Ewing sarcoma 2B52 Cellosaurus C4817 TPD-UQH0Y0 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-0YK9H6 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-WUXXCX Ewing sarcoma 2B52 Cellosaurus C4817 TPD-CC4YLF Ewing sarcoma 2B52 Cellosaurus C4817 TPD-QAWAFC Ewing sarcoma 2B52 Cellosaurus C4817 TPD-68R2Z3 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-9A75PG Ewing sarcoma 2B52 Cellosaurus C4817 TPD-9ZYQGJ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-N4OB44 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-6G7CSD Ewing sarcoma 2B52 Cellosaurus C4817 TPD-0V5P3V Ewing sarcoma 2B52 Cellosaurus C4817 TPD-WUGL66 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-HT2CPY Ewing sarcoma 2B52 Cellosaurus C4817 TPD-KOTSOB Ewing sarcoma 2B52 Cellosaurus C4817 TPD-5BDDQU Ewing sarcoma 2B52 Cellosaurus C4817 TPD-SS02MN Ewing sarcoma 2B52 Cellosaurus C4817 TPD-SZ86MN Ewing sarcoma 2B52 Cellosaurus C4817 TPD-59C27V Ewing sarcoma 2B52 Cellosaurus C4817 TPD-JSIVUU Ewing sarcoma 2B52 Cellosaurus C4817 TPD-5917PL Ewing sarcoma 2B52 Cellosaurus C4817 TPD-VO5ZUZ Ewing sarcoma 2B52 Cellosaurus C4817 TPD-YTBO8K Ewing sarcoma 2B52 Cellosaurus C4817 TPD-LFC0SX Ewing sarcoma 2B52 Cellosaurus C4817 TPD-QPUJOW Ewing sarcoma 2B52 Cellosaurus C4817 TPD-I42O33 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-TAUSYD Ewing sarcoma 2B52 Cellosaurus C4817 TPD-NXGBYR Ewing sarcoma 2B52 Cellosaurus C4817 TPD-I0KYTR Ewing sarcoma 2B52 Cellosaurus C4817 TPD-FAOA6H Ewing sarcoma 2B52 Cellosaurus C4817 TPD-BNN23D Ewing sarcoma 2B52 Cellosaurus C4817 TPD-GZ5S57 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-I7GJW1 Ewing sarcoma 2B52 Cellosaurus C4817 TPD-PKDI3W Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-01E67F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-8LKJXS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-C31VQV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E6B6YH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FWIBTM Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-8K0O8T Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-AI4FTL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PQVQUK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GQ7KAX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZB5KH5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QD40BT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-VGPZLG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-T6TCFY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-V7I2WM Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K56VML Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6OJA3R Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9FS2K7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ROJWC3 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-CB461N Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OMKS0Z Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6RLL4D Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-O9G3ZB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7KZ6LE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-AKAEQ5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Q0GL7U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PPJMKT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HEM71P Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R97O5I Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Z06K1K Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QTS3OL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7XE4D9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SP82OO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QUXU9U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DS8Z49 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UFK9OT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HT2TGC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0RSC9B Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PNLDXU Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XDTEZN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FM8H26 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JHO0S6 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-29YCMF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1IOKKZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-TFS64Z Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9ZE1Z3 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HF37JS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UR682Q Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LWKZJX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R3ABPC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YPE1RY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-4SVV1T Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ELODRZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-067XGI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E2X3VB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S9OZN0 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-X757PQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6PETRC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5S8GPQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ICIEL8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6FSKTW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R71868 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FRTKUD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-AADH7A Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FU3OSA Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HEOCYU Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JTPEUH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-D0ALGZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-3MGHU9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LTNOLZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZU03GE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GNH771 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DO0EES Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UPWG1L Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E4TTF8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0D03HI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-EONF1Z Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-KVC78Q Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-V92LVW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Q0RUTT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SUMKXT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SRTH7F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E0ZKZ8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OS566G Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E7KXII Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-H1HNXF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-15O6M1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-F4M7CY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R66TBE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7ZHOU5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1EL1DC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BJDZ82 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-WPMMAJ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K4N2GI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-79X3KH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Y988UK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-H5YY14 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-VV1Q36 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XJ3ZX9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZNFO4E Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-47BV24 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GVUFF9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-G1Z56S Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-L47RKZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-94BGAP Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SS644U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LVN80C Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-X0HM62 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RX06NR Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-20NR5F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-813U34 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-EV0F8L Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DE9VNB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BEVOYG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BLP2CL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZGRRXX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YFPTTE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6FD2Z6 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LUSJ2N Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N6L5ID Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XFI7BH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6RP6W0 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R8R6XF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2NL1UW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HM6W6O Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JAMQBD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-366O8K Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-29T0MG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0YUVIW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-4BR8ES Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6M7BG8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6LCM2Z Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1JOUH8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-F20NC8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-WB8QYT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P6XBS9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FCBUOW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HW45LS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6G5Y2A Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FRRPWL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-853IKS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-B7KGIF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-H4T2XN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-VA8YJZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ANKZYK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-KEZDZZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N6OMXV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1Y6FMW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7O6232 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2BY7NO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UT12FW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7KXNSY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XXN411 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XEGMG8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-A226TO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9DSXA7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S5F3K5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HEZ5J8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0KOO23 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QM7QN8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GMUPSD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2T9UQ2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2YDAQL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZEBP8P Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R4A41F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-W3CL7S Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S9OACA Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PWQ5B4 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E24FNK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-IC8S4E Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-B3S5DP Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-I2DXXV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-CB7MH2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PNVLIV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7Y1SXL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1S65YG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-NWZU4K Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6XC8G1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZMU5K7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N9RWAM Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QHWSEE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7GVDAN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HEYK2Y Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZRJG2B Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HGRHAX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-B926Y8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6T9M2D Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BAM6IS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GB38VL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-U8H5PK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DII5OI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Q2EHQV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0XIA1L Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GCYZ75 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2UWUDE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OGKRW8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-KBCI39 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-B7PYK5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-C9ZHQL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Z9IX79 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RCUQFE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZHO8RU Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-A4I0RW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XH6Y00 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-C1VNCF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-L5JOOB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ISPBDQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RHHPGM Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S55QZV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N5TALJ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DSKNAZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7JM3MK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-3VNEDZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OXT1UO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-3JWH7K Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LLGHJ5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-KWWGAG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JE3RT2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LPKLXV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UPWXZ4 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-4BXAM1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BHA336 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-AJOMZL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-O7GMMO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RPJTOK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-EP5D0A Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-4OBPY1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GUEKZN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-22WAUW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7XSQT7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QMK5C3 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7PU7GS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-IRHHK5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XYEPCO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YGEAKL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QJDVZ7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-IS2FPE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-KXDNQ5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BJD73J Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5CH3M5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-M8SMX8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K8CGLH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P5FH0I Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5PL934 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UEPND2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YX8UXD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Z82P8C Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-183QCO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DFTQOY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SBG8CB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BNWB8J Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZLEYU1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-91E982 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QSBV6E Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N99M9A Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S02GRI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QXSHWQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2MR0CZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0GF9AQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-3JWNUY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UFQ5FT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S4ZQ6F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GP3QEF Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-ZR06I6 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-X00UE3 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-N99A3J Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-XKR3BT Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-QI2SAS Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-GR6DUL Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-DUWDFY Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-CX7QVC Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-F0ZCUX Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-8X3AOW Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-OADQJM Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-78KS6T Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-W8U3E9 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-I6ZI5F Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-RLUBL8 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-DJC57G Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-LFGB7J Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-GHHGQG Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-LU3WWG Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-ZJBPZ1 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-JEJ5K8 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-L0I189 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-YTZKG6 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-Y6HHZ1 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-XXX0CD Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-S5YJAJ Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-UR3FFI Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-GAN5D7 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-JZXH25 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-3J3U45 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-NZ2VJR Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-EYQLTL Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-5P4KUH Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-HCU6WI Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-TYSX8W Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-X49THW Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-O320AJ Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-R5EBIU Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-RDPSHY Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-3SAFJ2 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-EYJ7J8 Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-6B5NPR Acute myeloid leukemia without maturation 2A60.31 Cellosaurus C3249 TPD-GP3QEF Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-ZR06I6 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-X00UE3 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-N99A3J Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-XKR3BT Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-QI2SAS Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-GR6DUL Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-DUWDFY Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-CX7QVC Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-F0ZCUX Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-8X3AOW Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-OADQJM Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-78KS6T Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-W8U3E9 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-I6ZI5F Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-RLUBL8 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-DJC57G Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-LFGB7J Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-GHHGQG Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-LU3WWG Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-ZJBPZ1 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-JEJ5K8 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-L0I189 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-YTZKG6 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-Y6HHZ1 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-XXX0CD Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-S5YJAJ Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-UR3FFI Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-GAN5D7 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-JZXH25 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-3J3U45 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-NZ2VJR Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-EYQLTL Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-5P4KUH Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-HCU6WI Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-TYSX8W Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-X49THW Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-O320AJ Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-R5EBIU Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-RDPSHY Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-3SAFJ2 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-EYJ7J8 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-6B5NPR Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-R1GH77 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-QI5TYA Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-4MGRSN Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-C1EGYJ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-VYYLKJ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-KMFET7 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-S1IL49 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-Q8B3LQ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-V2AKND Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-B2ZQKE Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-I8PQD5 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-CR0WM3 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-JIF1XD Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-WDTGCE Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-FVM5ZH Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-H06MZ9 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-HL860C Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-0ICRYH Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-YEJIZV Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-6M0QJ5 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-IXW61J Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-JG9CSH Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-8M4IP5 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-KTVPNP Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-CTXL8S Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-HPFFV6 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-476Z49 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-J2CJZE Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-OQBKI6 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-M83JFD Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-SXKPUQ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-VTG3Q8 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-ASDOOC Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-8Z052B Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-68ETPX Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-3VXAGD Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-0DFZNS Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-2T32YJ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-NPX2DN Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-F4IJME Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-5IKGQK Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-ZZP56Q Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-CSOKNQ Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-LA9X60 Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-G25NHE Adult acute myelomonocytic leukemia 2A60.33 Cellosaurus C7962 TPD-O8KMV6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-T6LK61 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6OFMGM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-K88OED Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-44VJMG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3PRKDE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5L122B Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-02EGRP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-IRPP7U Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZVICTJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-F49OG3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-L0QB46 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CKTMWA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DDXBB5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-W4P07X Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WL36AJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CFC2WY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6MBSPI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QGNLF1 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AV27N3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UANFZ3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HHVF58 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-23OLRL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U8Q1CA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-N5DW64 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JRVDGM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WJJ6J0 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LNA722 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LO4VPK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1HGRQR Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HJ6WUX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-57Z33O Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0IYWAH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8W1LYV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-V7C9UD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0KAGOR Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-A27P01 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RJMQPP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6U19M4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZJ3X8M Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U210OU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MEK3NP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LD9W6T Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QCSWGB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KLZURP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UPAVR5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-V08AON Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7U6A42 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TEZZO8 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-B3JJRL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0U8K1A Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8C9JZ9 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AV7C80 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DEXL0Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KSJ0ZP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OOK3ID Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6IIMHY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-68FXM3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PZIA8S Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EOD51F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TPAJXW Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-D6LLOK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-J8KJTR Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-YRB2RE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2ZETZ3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GDQDNK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CG7LEG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TT5SIC Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DB173P Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QFOIZZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KNMIFV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HJUALJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MMWOWI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0FSLGV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QGWJ3P Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KXDNXH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UCZD2X Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-19X5F4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WLM3I0 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1YVOIU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-BVQQCB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FL0YKF Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1II0JK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Q2WEYB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KRBKAY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VAWW17 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-I74NY7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TL1AUI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-B48E9S Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8L5JX6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JDYH2G Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U2I4PX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-458Z7V Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FSH3GZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CDCJFV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3KCYVJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-C0IRIA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-22YXMP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-96F648 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EJNYCF Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UFEVAB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-K9O0IY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-L767G3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KKBPVW Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5RN2G4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0L6WSZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DVK1VI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WBU3ZM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Z6KG0Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WZH3A6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5G7YGG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-BH27WC Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QS48WP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-K0HDJ7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0AOCHP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6RU45G Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-T49R0P Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-N7NIUZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8ZJOCJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OTGOIU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-S34GUU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8K2FMZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZJW327 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-XJJP8C Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JTHEA3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7YN10F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HI562O Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KKA5QI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3Y05HL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-XOD6KS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4DZVVH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RHE7YM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7HJ75S Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5NRWRK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RDWAR7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CVQJCD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4DLAAL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GQTAE5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0D5SKE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-P4I80L Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7T4D6N Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OWQNW0 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8Z741U Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KIYNM4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RPBM5N Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Y2L4KH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WN466Y Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AYUODN Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VJYSLE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-30XMQ6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GX6LQB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-O6CHSG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-S6TK07 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GVXR4S Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EJ1GUC Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-05R3J7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-E3NKBU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-D2LT4S Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-A6NPRZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UPBT27 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-86KRVH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CG6NNI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-NWW0OI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-J2HLA9 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-F2J5V7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PI2LH2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RU8DRI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VODSDU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-SFUNCX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-9S7WJ1 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-F1NMOS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KYGHTU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4BX1RH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-XV9NHS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HHTCPU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1DZVVP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ADX36M Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6Z49NS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-20MANA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-NX1FMO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-X8LSW3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1B0JIE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-J0JCCA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-J3NBI8 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MB2UYU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-SRVRGO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MVNTUX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TTFA69 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RQWILK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PYMPHQ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3J5XGV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VXMK0V Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PV3DUX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EL66KF Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7UAL61 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-73L1QO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1T8ZRY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JFX6VU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7C2G9F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2Z73GM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OMDCWZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GZGL8L Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-SWLX13 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6ZMNLK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-P3OJAD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ISPK20 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-9F6541 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-J7VR9H Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZPS0OP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-NTF4PN Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MRTA8Q Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FMVYY7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GSNZZG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QDAMZJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WL6WAI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-S5KXU1 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Q7C38C Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-N4HODP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AGGFYV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DHC7XV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FG5HNA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EFC0KG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Y0AZXX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QO9L9C Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-SBB5AQ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-IGNN2M Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RN56GO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FX3RPM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AN2SKK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7HHUFV Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UJ0R7A Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2UN1RU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KRMQCJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-G5VJ0C Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PKPKGM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZP71MA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EW05DO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-I8DEMX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1GUIKN Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3CYAL2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DT2OFM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JIY8V7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OS3T1J Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TVBT13 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FBH3OH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QWT9EL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4X35DT Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KO2LDS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-01E67F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8LKJXS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FWIBTM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8K0O8T Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AI4FTL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PQVQUK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GQ7KAX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZB5KH5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QD40BT Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VGPZLG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-T6TCFY Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-V7I2WM Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-K56VML Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6OJA3R Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-9FS2K7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ROJWC3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-CB461N Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OMKS0Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6RLL4D Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-O9G3ZB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7KZ6LE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AKAEQ5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Q0GL7U Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-SP82OO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QUXU9U Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DS8Z49 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UFK9OT Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HT2TGC Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0RSC9B Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-PNLDXU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-XDTEZN Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FM8H26 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JHO0S6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-29YCMF Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1IOKKZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-TFS64Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-9ZE1Z3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HF37JS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UR682Q Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LWKZJX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-R3ABPC Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-E2X3VB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-R71868 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LTNOLZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZU03GE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GNH771 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DO0EES Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UPWG1L Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-E4TTF8 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-0D03HI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EONF1Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KVC78Q Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-V92LVW Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OAO512 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-D533FA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DJN393 Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-VTM4ME Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-9VB11C Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-HFFAET Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-RKWK2G Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-B23WDK Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-JLUMH3 Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-CQN0FF Mouse melanoma 2C30.Z Cellosaurus C21790 TPD-26643S Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5U5W95 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4TBKO2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QQ9F5M Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9J6QKJ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ASRKE1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-N1TE43 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZUFGJZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VOV0V8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PTMZ0R Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZGSBMA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZZOS4I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JBTMQD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V3GVHZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-H2ZQUN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KOGISH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZURRW8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ESBFXW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-K1DP3F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QY2BKA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BU8DRU Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-SL8IDN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-IPGEPH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NF7U9A Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-YHR1K2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AFOH3W Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DNYT6D Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3ZOL6J Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WP248P Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-UURPD2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JJHHWW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RRJ0BX Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-J641C9 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PAS64K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HA9XGH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RP70BC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HHLJ0A Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DPASC8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NXS15I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9V8UKY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QVDRH5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KX59O1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1M2JF1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4N5879 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OZTKVD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-XV55QL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KSQW3Z Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8BRYNX Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-K2ZRQK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-88AL6I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EFR816 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RIQW6S Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WMRV2K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5R49LG Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-I6E2S8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Z7CHU8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-O3JWQE Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4MQ5RZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V04WZ6 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NH3WO1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-10KDRG Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MHD8SM Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-B5LU0K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-L6NJDV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5NSJ2N Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Z2Y84K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RCDR29 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NV5KGO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VGLERH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-94HSU4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-W4DVS8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1DWHI0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-U323P7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5UIPY1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZDHAW6 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WX0FHT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-R9FTVL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-LI7R6L Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QD3LXL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QRFI0N Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GW5NQA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WI5WK8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EIL42Y Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-IUHPLD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CGD64N Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HFSI86 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MFV16S Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OD1HPH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-S4S476 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KF65VD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-IDYU38 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Q4P84H Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4SKXRP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-D5GWLD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-7CU2TR Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-258G99 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OKEZCP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-90W6NW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-U5N3TS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-I06HJN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-983EJG Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8J8SJ5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-U241SV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RO65T5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1WCJST Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8SYFC0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OMJX5L Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-D6GGLM Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0IMZ87 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-6HP8ZV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-D2BA6D Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Z57V2C Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4OV7A4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KI1O76 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OI1G5I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FTGZVC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8KROCO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WMS9S9 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WD25H2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AEVLDK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-SB3LI2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-LSWG1Y Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1K7OD4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-G88ESZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-68660A Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BC4OZQ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QPX4RT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QGDHIU Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NMU2EC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-70LW4Y Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WB0AOY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GGN9S5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AVTRXO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TK6OZL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3RME45 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-O68ZHW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AEBUMP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8NAJ55 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-7B4IWO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-15RPCR Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-O7SN7D Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MW2PD4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QQBISK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-IJ2XWT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9TCHA7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V3K7KH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3EL5XD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GR6IWI Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EM7XDL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GA4RU0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EMPMPF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-M3I4JA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-2EFE5T Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HA4LYH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-073UPN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Y0Y2KP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NU5UL8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-7X1GRV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XD2V4U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2G4ODW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JFVBR1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-86YMG4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R9KGKL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U99ZS4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-94F521 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DM1J6Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OXXT4X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y2VINU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BO8A2K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1A34AB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-92W2F5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W1W9EO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LDHDQJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z1AMWK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3EIU43 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5LBL8T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OSZXRS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MYMTFG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-65F3IL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2UA2QI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B9AXI0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8SVV42 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UAFCTK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O48952 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-850TZN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-576VQ6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CN3R0D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-59G8YO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6OJWNQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UBQREF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LO9F8P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YGP1ZF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HJP8OO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-103W79 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EIQ69L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VZY48W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MIV4AP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZT1MPD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LFOQM1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3IWAFN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B4QDTD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T6J4IH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JFV51J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7E70CI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BAKKET Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GBTRDQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0U73VO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J5UI4O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FNCT8Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A6D5GL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-799D5C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GTUZDD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L3ZN3U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7VK6BZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WPMAZV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CYHA8G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HS3SIA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F57ALN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TH8NEE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-79UAAX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2AH9VB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LKK76Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K8AJN8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AXHVUS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LDCG0C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XTJGJS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0DXMG8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ND5CIP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LFWQNP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I1B7VE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JDBIPZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9TNHCO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IH5RIU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F98UMV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4Q397G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WJPMXR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JX3WNK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B8A6N9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UT13IB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1RJ1H0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D4L0IT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S24JEZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8Q4BKG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7Z1UOA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2316NK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SZ4L8W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AIEB8S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SLSK8X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NNNWTC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VX9GKS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HQOIB3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EIHKOL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WSBNW1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IHSTRA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PGLCMD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T4ZW92 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P93ZXU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WL8GJB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X5RG0W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CNWZ6G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MTRBCE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-56QUSH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9Q8H5O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0ZML57 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YOHUEE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8EX9B7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SDAGOG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YKYMI8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PTY3VB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NOMA16 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-49076K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LXR494 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T2OH9V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GVWZGH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0ISBGS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZA8I1B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NV6O2U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ONHENJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YW2HBZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SQNNXC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7DEO5R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QSVT0F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WQFVWB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F5AL8D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OALBP7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6SZW8G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J3CLWS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W8YVDO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KLULFT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L1WU83 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WP8I8W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CV7S5J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2QK5BL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OWEWC7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IWUSKN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QXB531 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JMEZYZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GZQBM4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I70NOG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K2U5XB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FU560C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y9FYDI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5ZRJ81 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4KHOA7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TVQ7WV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LS6R1C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-35YGU6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LOV9BG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VFV7T8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3486ST Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XRN80Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K8RTCO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MZS3AJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y8VQU2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LSB7XL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K0XWRB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-96VAIY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ITQHLQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4QTW7L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H8WDY8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZFAHSR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C8CYHB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QXXPG2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZESS7F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IB054M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J9RNCJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y9DOLR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6XJTFJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L0TK6E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-38QAAN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-883S5A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z0KF9Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N07DGJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B8LKUW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1V6CR1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FZU6JQ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-X74G3T Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JFVBR1 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-86YMG4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U99ZS4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DM1J6Z Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Y2VINU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-92W2F5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LDHDQJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Z1AMWK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-3EIU43 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5LBL8T Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OSZXRS Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GPD14G Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1S9TYI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7FUHFI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JT72JO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U5RVH9 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EEWWQ4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-45SS23 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-YEKK2E Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2S4QI4 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DGK6M9 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-5XAALX Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-X0PWQP Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-RDB6ER Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-T6OSGN Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-LWEP3Q Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-QHYM7Q Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-8YPO9C Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-UA4LNK Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-261DWQ Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-A3EJ8F Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-UEBV5L Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-Q0R2ZC Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-VVPEWF Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-1TS0NP Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-XEEYBI Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-3VPEXG Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-Q7HW45 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-Q24CCD Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-4EZYIA Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-UGWULZ Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-VF0I1E Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-5BBMDT Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-9FFMGU Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-86DZC3 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-ZC9RJX Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-Z7LMA1 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-IYQZTE Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-YNYH3W Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-DKJ4PJ Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-XCTCV9 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-BPCEXQ Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-ASU6WY Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-9HYF0L Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-9M4EVY Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-VCS18D Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-QM9IFR Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-1ZW5LF Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-R0UV2X Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-SOE3UI Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-ZRRDQV Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-CPBZ6R Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-HPAVZI Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-MDYB3J Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-ZY6CB7 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-7POHLJ Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-K2A11O Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-Q5I9GE Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-4PHSFY Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-JGJ18X Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-NXTZ5K Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-1Z1KFC Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-A3R1OB Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-K9O1ZR Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-L5CKTA Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-L6RH6W Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-ILH1H2 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-3CH8Q6 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-61J06P Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-YOPMZW Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-6NNA5P Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-YJ0K0L Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-BNSMZR Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-UM92S9 Thyroid gland anaplastic carcinoma 2D10.3 Cellosaurus C3878 TPD-DGK6M9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5XAALX Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-X0PWQP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RDB6ER Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-T6OSGN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LWEP3Q Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-QHYM7Q Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8YPO9C Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UA4LNK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-261DWQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-A3EJ8F Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6LD0I1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UEBV5L Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Z9FFEZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Q0R2ZC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VVPEWF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1TS0NP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XEEYBI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3VPEXG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Q7HW45 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Q24CCD Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4EZYIA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UGWULZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VF0I1E Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5BBMDT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9FFMGU Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-86DZC3 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZC9RJX Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Z7LMA1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-IYQZTE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YNYH3W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-DKJ4PJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XCTCV9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BPCEXQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ASU6WY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9HYF0L Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9M4EVY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VCS18D Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-QM9IFR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1ZW5LF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-R0UV2X Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SOE3UI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZRRDQV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CPBZ6R Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-S7LY81 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RWF9EE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-2EVNZY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BO8DWH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IBIFDL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-X0GEZ4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BKN68Q Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-D8QJPM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9G7O4H Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DM2IOO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WY4RHV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RD6VW0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DEXBJ1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-UOLDU3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9ZHV33 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-X2K31J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9NCTXB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5BQRX1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RYQYHI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OKH4PU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9MFPJK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FINO6K Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7SMKTG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-A6KG63 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-JN4UA5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-F3PMGW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-E6T2MJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8RF7MR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PHTPKQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W64JLC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LXXUPN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LTVH73 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YA4C4T Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NQ9E9L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7638BK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IVMBU6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PZS86I Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SU39UL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ADYYWI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JRYKS0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5AFP0C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OIE71Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MV0HGN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NI2G1F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BIREK2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-98XV6X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-C6BOOY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XQB5GY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VWJZQW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QQ3ZHL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HMB3B7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FRT1DY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1OY5ZJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-D19600 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PZLASM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RMGUJP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MAVGA3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G1IE4T High grade ovarian serous adenocarcinoma 2C73.03 Cellosaurus C105555 TPD-G1IE4T Ovarian carcinoma 2C73.0Z Cellosaurus C4908 TPD-G1IE4T Ovarian mucinous adenocarcinoma 2C73.04 Cellosaurus C5243 TPD-U2P6AF Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-S8O3RK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UUBKDB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-45WEMQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DI6CID Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TEV980 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SFP28C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U5N0HH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9OOM53 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O9IIW5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4I8LC7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0HK63C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MB0ESI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-COCE7G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DXI1C9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3SSGQ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N1V0YU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YR4VER Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4H1DK5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ON5B9A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7HPVGA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0VAKHK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MI9NCI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4JYITD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BWH55T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y32ZLH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HKRG14 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CI1JIU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IZUG2W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G9BR2U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VOY34R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3ZWLX3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VDOEHT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GWL7CY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZIRB7F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KMNKMG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SEHKPQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JFVBR1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-86YMG4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GPD14G Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1S9TYI Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-JT72JO Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-U5RVH9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-EEWWQ4 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-45SS23 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YEKK2E Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-2S4QI4 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-NSPKPD Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-D9SW7A Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-LI42K3 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-OBZI76 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-ZOYRZX Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-G11OBI Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-RNZWLE Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-FFH55M Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-MPIBLG Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-U3N2KA Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-28XF5J Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BSSSQL Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-Q27B1D Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BV0MW8 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-FDS5K6 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-V2G5E0 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-AK97PZ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-OB83V9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-EWJOFX Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-HTOA42 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-6JKJPB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-T8X8TP Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-W0WZ8X Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-4FFP8K Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-8BC4TH Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-666F1G Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-8237O2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-JE0GJU Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-DTD9YP Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-C4IFOG Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-16G5IO Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-FJJPY5 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-JGKEYW Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-IX5NQ3 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BGLZ6F Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-5PZCT9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-UHP7PD Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-WD4HWE Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-58OZ6D Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1G7CZ7 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-QM36HU Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-LWM151 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-HDU8KA Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-P5WAL7 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-AROEIR Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-D6BQN2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-QZHAET Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-G41Y9B Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-G9B6NJ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-LF384X Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-VRY5VK Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-82B28C Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-5OXU4U Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-U6E20F Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-836LTU Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-D3OZVL Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-9X1YLZ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-W86CGB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-VOKHS2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-K8H6HP Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-L12WVQ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-8Y3A4W Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-2KW4AP Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-OVFSMD Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-QMSGH2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-U30EXG Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-KR89CB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-HVMU8E Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-VNBACB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-IGTKVZ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BYII1J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OQG9UV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-6B7IKY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TEONLH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-L4MWOF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HQPUMB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KH3KK9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ITHY1L Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HMXGNS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8IRMUT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CL8SEE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GMYM1J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-YQ9CB6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8DQC6N Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-H0POCF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RVRDM1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DBEPRP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SJT3DV Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SGHDD9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-049ESM Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3WSCIS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-J1XBDQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HHQA5U Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QM5UZP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-YPBY07 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-S97N5C Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8GT4MX Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-N17T1H Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-AE1BU7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5EA3Q8 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OQ6I6N Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7G52P3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-G7IGSR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4S932U Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-H4RLX4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZJNNKD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FC6JQP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-C9O9JF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BBJ4HQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2IUM4C Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-V5SFQ5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EJ6Z25 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-49N0TZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VAMT79 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-04YR73 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-KIJ8SV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1IBT9K Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FZARAW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9QEZYK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZHDQXN Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ID4JCD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-14ZFQ7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-W0U5JO Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5HJED0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-19MYS5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LF6F98 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EE3ZSG Glioblastoma 2A00.00 Cellosaurus C3058 TPD-4MDVGV Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-VYBHI0 Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-1US7QU Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-JD6YBJ Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-6AKPBJ Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-ANOAL3 Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-Z0GUAL Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-C5HQ1X Thoracic SMARCA4-deficient undifferentiated tumor 2C25.Y Cellosaurus C183115 TPD-Z7GNMT Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-KHA99P Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-THB87U Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FJIIQD Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-UC6HTY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-OEYD1A Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-HDR8DR EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-9ROWSY EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-0JIF10 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-P68ZDC EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-Y158Z5 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-ZUNETX Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-USLYHX Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-WL2JNS Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-SRW0D5 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-N9U153 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-XBMLTT Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-P9QHWQ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-S3JRYC Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BJB54Y Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YS8ULN Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-3ZUES5 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-5FWC6S Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YA4C4T Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-7638BK Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-OIE71Q Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BIREK2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-98XV6X Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-C6BOOY Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-QQ3ZHL Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-PZLASM Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YVR69D Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-F9YXGZ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-PSP6UA Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-RL2H35 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0CGC8K Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0EU6PY Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-PPJWGG Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0TN5HA Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-GU4QGB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-B6PPX8 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-ABJ33Z Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0W5T9H Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-EVK1IA Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-RQST5R Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-TLUMDB Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-DSYX3J Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-PZRY7E Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-L1ESQH Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-NJLZE2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-V5R6I9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1R9SII Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-BCOMRT Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0PMGM2 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-41C1NC Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-FNC886 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-7U5ANE Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-WT9J3N Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-4WIWN8 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0IDNWT Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-EPGWED Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-C7BL6K Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-XTNTND Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-0Z037N Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-8B3P3Y Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-MERMPE Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-4A3RX9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-WSNTVT Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-S1HFV9 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YF0PMV Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-LLR5FR Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-ZDMI29 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1TY9B7 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-TFR030 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1DTE58 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-K2HKNI Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-9GIBXM Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1V4B2D Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-79BPQ6 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-1TO1TW Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-DQ51VL Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-25A18S Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-X9UD0F Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-NSIURM Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YWFUJC Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-9DQWCO Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-27S09T Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-SQ4BT1 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-UZ56K7 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-EESM2G Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-MBHHFZ Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-S2HZEC Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-5LDU64 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-T2O1RN Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-YL1DY3 Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-N31QMR Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-XAS5OF Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-NDWSWK Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-R7536K Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-4S6P7W Lung squamous cell carcinoma 2C25.2 Cellosaurus C3493 TPD-WGO9SP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-X55LHP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N29VGR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-T7KUKR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-T0GAPI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-37VY8C Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KKALJT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4I6VZQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7H344A Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Y9PANF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RHW7AC Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N56CF0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FIT8PY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-2ZWYTW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-25Z0DA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1WL41I Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZC1JG3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-2PXWME Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KRMQCJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PKPKGM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZP71MA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-EW05DO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-I8DEMX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DT2OFM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-JIY8V7 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OS3T1J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TVBT13 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FBH3OH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QWT9EL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4X35DT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KO2LDS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-H9CT48 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-R1DCJB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZGAWNB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IUDH3X Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OY7R5J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XBKJLP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OAO512 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-D533FA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QHYM7Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8YPO9C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UA4LNK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-261DWQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-A3EJ8F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UEBV5L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q0R2ZC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VVPEWF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1TS0NP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XEEYBI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3VPEXG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q7HW45 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4EZYIA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UGWULZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VF0I1E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5BBMDT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9FFMGU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-86DZC3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z7LMA1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YNYH3W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DKJ4PJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XCTCV9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ASU6WY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9M4EVY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VCS18D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QM9IFR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1ZW5LF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZRRDQV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HPAVZI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MDYB3J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZY6CB7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K2A11O Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q5I9GE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JGJ18X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BJ8JQS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-L5CKTA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-L6RH6W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ILH1H2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3CH8Q6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-61J06P Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YOPMZW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6NNA5P Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YJ0K0L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BNSMZR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LE5ECE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E1IVF5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G9LRXD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PWUGYO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DC273Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QDPV3V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5LQZUY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R8XHGY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NWYELV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TDQ0VT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q7C68U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3XYN9C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2SFJRW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-V13JB9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-E19Y1C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ERAGRA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-38DQMS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BVTURY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZN0AX6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MFOOV9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9XZON7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1PDRJ3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9B6DM4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-30LQON Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HOXLFN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6M9SJA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7GV0W6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YDT73C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OFA19E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4M0UHF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S7LY81 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3FY2BE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-25EUOR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-23MVEW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2UIEQ6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HOOSCB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R94K21 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H6JO63 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CAE44E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YWHWLT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7V0U13 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NMZS0B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ECM92J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9W67ME Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T0R81W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZSPC3L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PG53HZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O5XK21 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NM1N9K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-14HU8V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-J1T1JB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-POE8TN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FGQAF5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-04Q35Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FPXO74 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-YFLW7V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-955O4O Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G3ECJJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-J3S4O5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DF0NP7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P1HY8N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RTDJH1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QJ9AL4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4L7B0V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1DA9ML Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O8SU5F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VWKEN4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-I5IVLV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HOUUTK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VRICT3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T5RDVF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RM9LF2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LZKFVO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4YJM1V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-51825Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O1MC5Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-M6Z05C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OIZWXH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CE2RBJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WCIZQD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H1FSZU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-92F805 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AO0FPV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9LVPZG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FM9C5Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-C83TUF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1I70JU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HT726B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S3XPC9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ADBILN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3CR95Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GIMOSD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EHI55D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R6E6C0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ELOOAN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RA076S Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PYARMN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RUQ9F0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JFAGOV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JVMRK9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FUOQQT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O1BFU9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Y1NV26 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4ZXJU8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VKQFJP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZQ84H0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UN3Y75 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IL0QO4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H15E5M Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-06P9WK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W6BECN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1TKYDB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2LTSQS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WE1MG3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7YYEXI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GUW7S4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XO0SNC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SH25BM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DMJN9K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VNRVQA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8VDG04 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BIBRX5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SBDLGP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IJ8SDH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-A4DCGA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KRHMUV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-I1YTTU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JXNIZF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VYIGTM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2NI4LH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TEMP5P Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DPY0Q6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JDUF4N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W69GVS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-B917T4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-N905L5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1ZD2YU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OHSBBQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QNY0UN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OJS24J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X9J9EP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GM0UB7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T27EKT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QOPFH9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-986BZU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O7NEXN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HUFL7N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4919AF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9JGZTI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-O0F3EK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z7G1CS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NY8ZQF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G9815Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TW5NOK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-KQ0CCU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q561ND Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9SXV4Z Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VB7A1I Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UMD8U1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-86L7AX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WFZIKL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UEVLC3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WNXYU3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JCDLQE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LIJAB1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SAPTVA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8J0OAN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3NU6ZY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QRWY0M Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TV8ANV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6M5B2X Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7HN6EK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H6ZQDO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IBRYHV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G6SRHG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UFUZ7P Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IPCHNI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WXLE5K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QCVCP1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z64QHT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZYWH8Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6RZGTW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8SWKJ2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-32Z097 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BIW6X2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UYNNSL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K90FYA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1AYRHD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EKO8T6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JNR66H Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-S50RRD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-W411GC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DMC8YK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5MNCNI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BTH6I1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OU8G96 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7CBOPT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9NUGQN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P2JFHP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MSUOFI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PB6U5V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-M43OQ2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8JD4KI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5DL59M Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FSBO4T Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0K5RTQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JWXYZN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CZLTHQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3GBLOE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1FLQU6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-40TZ59 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NN8AJI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QJOTQA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6QGC74 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UQNOZT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JIL0UV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7HRTKY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5MK0M4 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4B7ZMW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MW7SL6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LZHFBW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LFHD67 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GX2GR3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6Y9LSP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Z0H19Q Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZWVTLW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3KD359 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZMY9XK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EN7LHP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-666KNL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6VWN41 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TBNA6W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BLX34H Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0WLC0D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-H9PXTS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-A98MZC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CQ7Y7V Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZSFSZN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QEW3C7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-607IVX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6JQSZM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-71IP1W Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8HML69 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GSV7O8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-A4DNQ9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VJIG58 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-R8DAYV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6VIQN7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MO464E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4N31QX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-8LG73Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RKOYRY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-C0KPWD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BCB2LT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Q39VMT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TWQM33 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DL8WHK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TG89SX Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0NZMOU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-U28I4A Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MA3RTR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2MMF0M Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QXQ7SC Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GTAVOU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-66UH4E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GRWGBY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3I9GT2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IY8E7N Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EM9VBJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5PUBB9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-U7RLWU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CHP8ZZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-G37YY7 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VCYTJ5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-4N8Q27 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TJU54U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MEOIEU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-99FFZT Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VWLSLI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HZVFHL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-01W85S Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DGC0CO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-K333VU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-L7J6C3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-JVO9SK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DRIJMQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FKZ2JK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7Y1SXL Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6T9M2D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0XIA1L Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LPH8HP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7HG82U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZNDBJ8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VGQ6IR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X77DPG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MX1HMM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-56ED86 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZC8EHP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CU963J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2RSL26 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EKNBVQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-STCLEE Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UUKAQ5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-Y56URF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-96W0DK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HLVHEG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7DCUED Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IT3WWO Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2LIS5U Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZYZU0M Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HPEN03 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-MR5DYZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RZA5NK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-X8B04R Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-CHMM29 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-ZWUGK2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FV8MT5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9PBZVB Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-0A3DMJ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-M3O4WU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GQQ7G5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-WAR3TD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-NTYOBD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-OJ34YG Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EE3ZSG Lung non-small cell carcinoma 2C25.Y Cellosaurus C2926 TPD-RT1FFS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3A7LAV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FIWUUY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-X3PG6U Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LNLGUM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TNA1R1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K41QEH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BFMJZY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-E4585B Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9FTAWY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1TFOH6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EHMCS8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q9YH11 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FZB650 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-84PA8L Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NGQW2P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UJ1QBR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4L12AF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C3G1OT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KC2FN6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-494HAV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7HUXTU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ECPAXV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B8D7WF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-F5Q76I Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MOZHHJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VCVLDT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XCIZ68 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-R5MFOB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WDKCJ6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WES51M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-J8LYEV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NTVD5V Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JC0MI5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8DGBT6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FLEBBM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-A2F4EZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LTG47F Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XI2NKZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-29UTYT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VZZ65M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MXH3IB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KGBUWA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XA38CH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RK06CO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GCSLT7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B6KXZO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N5IX86 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-133SKS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FIXKGY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6JADWH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6DSQG2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-T2X9XZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-T2KR5Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NSBNEZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JMVRAI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ASGOIH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OMZ9E3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CY4PAB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EF6BWP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZDHWSQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JZB0NZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CDFL0D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BTZE31 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZK9XSF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K1KFGM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2972LM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-54Y8D8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6XBKQ0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-86KXG7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ERQ0XV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RZFSVG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-A0U8QT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TET2HB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-A3JECI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-54K3SR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-T5YZHZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ROANM5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H7DJ9E Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AY8VO6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y70HLN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NSGNTU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3QQNHO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9IOWC6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BHI6E1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IE6643 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-P5XQPV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I7MUGN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-426LNM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8KDUWC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YDOPHF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MNHZPS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JJKBBN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I1L0P3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IINOFJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6QCHEZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RXIA83 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HWFYRL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GU7CQS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YHXLMI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YEHJPE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-L4K776 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-F4KRH8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8UMXUV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H9CT48 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-R1DCJB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZGAWNB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IUDH3X Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OY7R5J Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N1U9O7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SNJ99C Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-J3IO93 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RUPS5D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1KXZ1D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0WW2M5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-M2618D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2XMXAX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3A4UXW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-780HCL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EYJ6D9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VRLNY3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q9VMEO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5RMR2U Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZOV2GX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1U6VVJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-F3H2B8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-L1YR8M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6FJ2CH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5AC673 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y4ZBFR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ADMWS5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JC5RRE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y5PIFG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9JCXP6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RGZ130 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UBGLUH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RPGJQN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JGK8IB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TW7GED Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ADRPD5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WKWA6K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PXYQMZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JGZEJF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-J4LU36 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2UWKAM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I8X4AY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-O648GQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6ZK1K0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q4VEM7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V9HRTK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4T2SEJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LI42K3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-G11OBI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RNZWLE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MPIBLG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-U3N2KA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q27B1D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BV0MW8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FDS5K6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V2G5E0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AK97PZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OB83V9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EWJOFX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HTOA42 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6JKJPB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-T8X8TP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-W0WZ8X Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4FFP8K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8BC4TH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FFH55M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-28XF5J Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BSSSQL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-666F1G Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8237O2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JE0GJU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DTD9YP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C4IFOG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-16G5IO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FJJPY5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JGKEYW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IX5NQ3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BGLZ6F Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5PZCT9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UHP7PD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WD4HWE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-58OZ6D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1G7CZ7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IGTKVZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N5TALJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9DSXA7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HEZ5J8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0KOO23 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GMUPSD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7JM3MK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3VNEDZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZEBP8P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HGRHAX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6T9M2D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BAM6IS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0XIA1L Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RHHPGM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RPJTOK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-22WAUW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IS2FPE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K8CGLH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-P5FH0I Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5PL934 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Z82P8C Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TU9F23 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NSPKPD Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-D9SW7A Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-LI42K3 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-OBZI76 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-ZOYRZX Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-G11OBI Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-RNZWLE Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-FFH55M Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-MPIBLG Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-U3N2KA Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-28XF5J Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-BSSSQL Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-Q27B1D Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-BV0MW8 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-FDS5K6 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-V2G5E0 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-AK97PZ Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-OB83V9 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-EWJOFX Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-HTOA42 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-6JKJPB Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-T8X8TP Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-W0WZ8X Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-4FFP8K Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-8BC4TH Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-666F1G Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-8237O2 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-JE0GJU Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-DTD9YP Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-C4IFOG Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-16G5IO Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-FJJPY5 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-JGKEYW Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-IX5NQ3 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-BGLZ6F Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-5PZCT9 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-UHP7PD Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-WD4HWE Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-58OZ6D Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-1G7CZ7 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-QM36HU Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-LWM151 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-HDU8KA Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-P5WAL7 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-AROEIR Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-D6BQN2 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-QZHAET Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-G41Y9B Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-G9B6NJ Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-LF384X Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-VRY5VK Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-82B28C Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-5OXU4U Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-U6E20F Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-836LTU Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-D3OZVL Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-9X1YLZ Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-W86CGB Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-VOKHS2 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-K8H6HP Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-L12WVQ Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-8Y3A4W Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-2KW4AP Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-OVFSMD Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-QMSGH2 Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-U30EXG Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-KR89CB Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-HVMU8E Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-VNBACB Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-IGTKVZ Lung papillary adenocarcinoma 2C25.0 Cellosaurus C5650 TPD-U2P6AF Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-MYKAJU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ICX074 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VZOZZ1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-K405WJ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CBS066 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-08PCL9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-W895I5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CFAG32 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FXIJUG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SRX9KK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SG7OAR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-04AMAF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-92GEH3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-05X91J Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-K89XHT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QLU5GG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5DFQPH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-51XQ2O Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-L3YXE2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5INX0N Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HB04WR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UDWRV8 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NIRYXY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-94I2K5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BM4A6B Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SEOTEY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-INED4H Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5E0XSP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7P09SP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-C79M8A Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-A1745Q Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-O18XN7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-L7UR3V Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-M9IZ0B Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-10VPXB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OUPWQH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0YTR48 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EQNWIV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9U31Q3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-F0KOL0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-RLAI2B Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5YWPMS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ME0BUQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-M39O3U Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5O25L1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-RM1C08 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JB05OZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2ZH8RV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-F6N1DS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-RCCYY9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0UNN8M Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NB298C Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SAFRW7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WSBDBV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3M0W5V Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-MB718M Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4IUQX1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-S2LDL3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HP3UHS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-D1CLXW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DCQB69 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9CIIYI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZWQS99 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LW3U3Z Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-15T5CB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0EMATB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-G61DUI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DKYNOG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WH8VE2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8WX9DX Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IW1EFW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0KDPAB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NKFCG2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6F8EFE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NOHIHG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6H7RAL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2ENGBQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-RNCG1U Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JSZD33 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-T9K7QM Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-MTAN2G Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IG4HC4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-L08HH0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-PJ0J61 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-M2PC56 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-KHR8KK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZYAO5L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JPRVBL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4MUZEI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UWAMM4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-P96VFV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DBZUKE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-K3T3M7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-A2PA8N Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z91JST Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SIYMQK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-D7CR5P Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DYZDBD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z7GNMT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KHA99P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XS0SAF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XYO3Z9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DMCZO0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GCIPAN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-T6A60H Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-09VA30 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IPPULD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YKRJNH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IDL3QN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P63BD8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PAGQSH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8F5TLV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IX9V1Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8RBI83 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-443349 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0NDH7H Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KKSNGB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-B31OLW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8NH545 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DCCMC2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3E8CIR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-H7G62Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CPRT7E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-R8KG82 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8V7JU0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4SZN7R Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-STHG1J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-1A6H38 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5RFGNA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-LGUGD5 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-F8MMFM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GFF2ON Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-DO4JWN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-RR0CEQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3PVJTP Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-21BHXD Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BWEQK9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HYLSVQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5EU2VQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6KLND9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PB6MUW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VSG1P0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-F80AZM Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-IG3ZIZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VT4XE6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-AFD7JH Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-7ODWH2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UKB00D Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EQ04AZ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-TWKUXA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-T4B7MY Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-50N0R6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-72C5GQ Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-V7VUPS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-3DWONN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UO4RVV Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-2YH00J Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9PJ69C Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PBI8ZF Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-UIADYD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-5LS92T Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WQ7TX3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GIYPDQ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-T81KQC Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VS7BUI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WLQOSD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JYZRO9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-P1IAWF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RS0FT0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IMQDJ9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NGWP0H Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3Z9LDE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZCRP9Y Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9NX6LS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NGH0ES Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1BJ31G Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IOE4P9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1AWXXH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-QJS15I Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-K9QOCR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DIIVRV Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JS5GP5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BX0BER Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FVCXIY Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-C5LZQ0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HOIDP9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ED9HVK Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IMVQXF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SJ5WG9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-N1UL8B Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0HHCZI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0D7BE1 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JSQDHV Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HV8319 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZTYBFS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XWNNLR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-Q739Y3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-OCNUZD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8TWJ91 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-W7F491 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-X2HRYI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SRNMY8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V75K5Y Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FU759Q Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LCEEZR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CS2XDD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-E80VQR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V38P2N Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-QUDJNA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3AIOAO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-O1U2QL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-F4XG5S Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4LBBUW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3G63BR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YIYQSN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-I2WUBF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GLKGNY Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9LLV5R Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PN3X5O Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ROI7J7 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-M1GWOJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VJB4KM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0M6C6O Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-KLOWWK Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-UOEAGW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LLT6GU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YMUCEI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SMV3AF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DWYGMW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D4AP3K Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-2DEBWE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-K84UTJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LP28PW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0N07Y5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LVU1W8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VTO2VZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3EZSOM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZDXW63 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HVT14V Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-QJF8FQ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V5BW9C Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-P4I7ZZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-P10OD5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VPOAR6 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GYBKQI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PGKIMA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9VMM4S Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PD1FYW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CEWJ7T Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-Q9TNZL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8LA5VJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SI8708 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CHJ30A Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DFHSPF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4R7HI3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0Q4J1E Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-F1ZLEN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DWX30Z Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4VEOFU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LK1NZ8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CCJ0TI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HWR91L Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1IMYT7 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D3U308 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HTUH5P Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-566I0N Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RBA709 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-N0J4OH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3R70FX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0BGKMF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DYDNZD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V3XY5Z Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XWXLO9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RDK8FL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-M69ZDJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-H7PMM5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FFKKWK Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9A947A Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-K4HN4N Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CPYPUF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-7MPY5M Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-TP170K Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4250HR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-U9OLCJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VHRDHW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IXFQSS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NOLTNF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-957PZG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HGMAWU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XVTZPP Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-K4RBZ2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-Z7GXZ4 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-OIGTS8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-05PCVN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-KDQ1KD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XQJ9BH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-E5BHJK Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LDKT1Q Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HYLT6I Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FW39ZR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MBIFWA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-G9G28D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-U7F6CJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8R35AW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZO7HUN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZWY4DN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WH8VE2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NKFCG2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6F8EFE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NOHIHG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RNCG1U Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JSZD33 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-T9K7QM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MTAN2G Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-L08HH0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PJ0J61 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JFVBR1 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-86YMG4 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FCJYPV Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MAK3WW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GPD14G Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1S9TYI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JT72JO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-U5RVH9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-EEWWQ4 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-45SS23 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YEKK2E Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-2S4QI4 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0VS0IO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D40TFY Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WUFQQP Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-S4EV3M Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-57MD61 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-F2QLVD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZUNETX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-USLYHX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WL2JNS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SRW0D5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-N9U153 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XBMLTT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-P9QHWQ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-TA8HWR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6KLKKD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JTHQJR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4MLHK6 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8487NG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CZDTO0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NJWY7O Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-S3JRYC Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BJB54Y Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YS8ULN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-B873XM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-3ZUES5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DID6LS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DH3OBB Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8RF7MR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PHTPKQ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-W64JLC Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LXXUPN Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LTVH73 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D4YGJG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SM79KQ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6C1RFE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-EXI8LH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-5FWC6S Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PI5DLS Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YVR69D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-194EVB Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FRHUBF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-48U3EG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0OSIS3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-VCHYJX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-F9YXGZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HACZHU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-I92MI5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-TFR030 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-5AAN1B Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-SQG3SX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D5U24J Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0P2CNP Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9S05V0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HBCJT7 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PSP6UA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RL2H35 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9MM3V3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0CGC8K Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0EU6PY Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9TWBZJ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PPJWGG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0TN5HA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GU4QGB Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-B6PPX8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-M76GNX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ABJ33Z Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0W5T9H Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RQST5R Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-TLUMDB Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DSYX3J Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JZ61SX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XJAJX9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-2GD2V1 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1XB3XW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-PZRY7E Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-L1ESQH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-B0ROAG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-56HPIM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GSJ3SV Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CTGEQ2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-L3DB83 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NJLZE2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LUYXO4 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IBREF0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-KODQEU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WVARXV Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V5R6I9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1R9SII Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BCOMRT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0PMGM2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-41C1NC Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FNC886 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-7U5ANE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-UJ2ARF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WT9J3N Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4WIWN8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0IDNWT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-EPGWED Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-C7BL6K Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-XTNTND Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0Z037N Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8B3P3Y Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MERMPE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4A3RX9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WSNTVT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LLR5FR Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZDMI29 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1TY9B7 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1DTE58 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-K2HKNI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9GIBXM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1V4B2D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LYCIOI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-79BPQ6 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-GI60ZT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-YUSHSO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CFMZ7X Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DFZFTT Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1TO1TW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DQ51VL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-A077ZM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-25A18S Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MSNIOK Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-X9UD0F Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NSIURM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-9DQWCO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-H4F1SG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-CUCJJF Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-NSPKPD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-D9SW7A Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-LI42K3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-OBZI76 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-ZOYRZX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-G11OBI Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-RNZWLE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FFH55M Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-MPIBLG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-U3N2KA Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-28XF5J Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BSSSQL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-Q27B1D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BV0MW8 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FDS5K6 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-V2G5E0 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-AK97PZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-OB83V9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-EWJOFX Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-HTOA42 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6JKJPB Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-T8X8TP Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-W0WZ8X Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-4FFP8K Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8BC4TH Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-666F1G Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-8237O2 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JE0GJU Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DTD9YP Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-C4IFOG Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-16G5IO Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-FJJPY5 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-JGKEYW Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IX5NQ3 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-BGLZ6F Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-5PZCT9 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-UHP7PD Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-WD4HWE Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-58OZ6D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-1G7CZ7 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IGTKVZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-DQZEWZ Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-IC8S4E Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-7Y1SXL Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6XC8G1 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-N9RWAM Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-6T9M2D Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-0XIA1L Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-UQ05UU Erythroleukemia 2A60.35 Cellosaurus C7152 TPD-W6WHBH Erythroleukemia 2A60.35 Cellosaurus C7152 TPD-391KD4 Childhood hepatocellular carcinoma 2C12.02 Cellosaurus C7955 TPD-0160HF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-NCSQTZ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-M5B3KS Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-AVM1XM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-2AZYN9 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-PDEMB7 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-2VTRKM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-XM85CJ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-8KRQNX Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-PDPIV3 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-L764CZ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-DZV232 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-9XGKLV Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-V0430M Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-GPZCVB Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-A1JJVX Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-G784RL Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-DGL70I Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-A42TF0 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-1DG02I Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-UETUKM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-2L8WOK Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-5BX08Y Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-XOLR97 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-3UEDWO Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-UUP39M Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-VV0DDQ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-9GPKQ7 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EYO1GS Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-RH1R8R Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-78BAPT Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-5D78JP Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-0R2QPW Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EBGNIN Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-RB7CX5 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-LEM1SC Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-6WG5F3 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-HEDOJB Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-T7U9MI Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-ZW99BX Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-S0UAJK Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-LO9SFX Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-4JWCO4 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-03E7QO Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-3D16PI Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-W66ADM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-TYZUBI Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EZ4RJM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-GDW18E Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-BFHRY8 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-4FCCFG Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-91GNSF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-E8MXNF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-TR43RJ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-0UUH3C Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EOAB1A Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-QNNVXK Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-7HUTCH Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-WIILHV Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-T7LCWA Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-6NYPYD Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-YIVIBV Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-Y9M0JL Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-4XRS4H Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-Y601GS Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-GUXSDJ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-076VPB Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-AP272H Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-0MZN2Z Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-9906JT Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-20YMCO Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-ZEFQ85 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EUD09L Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-0LNPDG Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-YTQJQ2 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-BSCJ7R Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-ICZMU1 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-Z0GIO8 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-5KWJQR Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-XILW5Q Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-RK5HQF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-PYCAJF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-MZ15CR Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-YAO9KF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-IY59BI Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-F9IXT3 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-KWKLMR Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-P8NIZQ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-XHF3LW Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-BAYLQY Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-DWH235 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-OWVDD8 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-KLFZ1E Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-JCJFBP Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-YNJ821 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-LRC8SY Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-MBZST2 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-B6Z6F3 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-7ROZQ4 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-QZ4WF9 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-4G8EYD Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-N1LXYS Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-JJED9I Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-ULJ6HQ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-JKQ029 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-R9BDX1 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-A8AG5F Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-OEGW0X Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-0BRIGF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-KOHFI1 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-F8NU9I Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-G5QQ80 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-J7A3HY Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-7LAIPP Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-718IXQ Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-PZR0Q1 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-2BFQ66 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-EGQ6NF Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-HYF0AU Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-LLR8TT Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-6Q4SOY Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-GO6PQ8 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-JO8DSE Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-2X2B5T Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-03AUEX Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-PVFOJN Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-NPFC0O Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-8L704I Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-6CK6N2 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-SW9JFK Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-3YHMMM Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-09NRO5 Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-J3ADNO Gastric carcinoma 2B72.Y Cellosaurus C4911 TPD-9X6CFO Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-1H21BH Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CB1YHK Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-DQ1SOA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WLOLNO Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LVADC6 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-S0E7ON Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-BEFNZO Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PINX2Q Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WDW474 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-T903LM Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LJ4VQ2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PBXU1Y Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-10IZT8 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-DJRPSH Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-HV91WO Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-O1N95T Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-QFBW9M Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3MT91G Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RQ2PB8 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-I0NP5M Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-T84QOK Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-2AQB7W Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-6BW576 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-N9O1DG Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-OLDKRF Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XZEDPN Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-72QHQO Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-TO3K5K Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-8F23UE Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-K41LT0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-78XB82 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-TLQIPV Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-V506HA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-BIFW43 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-MTFA7F Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-50N9Y9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XHV4ME Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PZWJZ5 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-18UOOS Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-4BYJ3R Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-90PDO9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ANRQGV Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-1RXBTJ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-OOA6LP Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PJONYU Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-Z0VXPW Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-IF55D2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-AKL86P Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3MGUBJ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-QYWP2U Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LTRQE9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-0H8Z02 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-JP2NKK Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CVHGT2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-YT5EVZ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CQM5DD Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-IXMUVW Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-KRFEE1 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RU90R2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-4964DK Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-JNPSIC Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-D4PBQ0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-KEGWBI Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-I9T90P Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-KW0FGI Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ASHKG0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-5ED32X Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-6UNHMG Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ZSDNX7 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ENFA99 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-IAREEK Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LRZEG9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-129D4P Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-L6BZQ7 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-JHKB2K Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-UEZBY5 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-1L6DFP Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-4UJLS3 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-6OCU4Y Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-0G7ANE Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-8L0K32 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LIDZS2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-YES7GP Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-OND5UL Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-V53FA2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-MQ2AA2 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-T7NYEW Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WXAYEH Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XV9DE6 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RJQAL9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PRLF17 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-4E2NZ9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-AUYIT0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-GBHY9Q Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ZCJZV0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RPIZ3D Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ZSHJJU Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-9F2GIG Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-VLOJU3 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CRK0JM Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-0VPTLW Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-VXD994 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CJX699 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-HVAL7S Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-SR4MPA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-CG2LIQ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-AHR4B0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3DZ0VS Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-TE1YQB Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WENW2D Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-LSY1Z0 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WHTUZB Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-4S55PV Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-7ITD39 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-HVNJQJ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XCSTE8 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-7BIMXE Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-S9GCG5 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-94PYUC Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-IFLONN Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-GKT4ZG Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-J5Y8UL Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-7G43VM Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-D9QEL8 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-L7P7UD Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3GWR6Y Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3MOAUN Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-5U7W9F Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-FJT3TY Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-03XC9G Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XDDREI Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-3P3WN7 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RL36MN Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-L0E3UB Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-TSVUKA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-M3BICE Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-S84AAY Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-HKZXBN Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-G9IS6Q Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RZSP3F Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XK5G5Q Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-77WZXA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-JAJRID Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-AVAH6N Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ZNED2A Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-VY86TL Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-TRRILI Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-EBBIEL Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-7DIZLQ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-VUZSKL Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-20KKFA Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-HEUZ57 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-DVEAU9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-NPIEXE Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-9JP6XQ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-ALZJ46 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-JYLOI3 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-RVPKL5 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-8UBM8U Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-I6C8H9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-BFXQ2G Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-808VR7 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-MVVFI1 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-SQEJS6 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-1RE1K6 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-J2HNMZ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-L78EXD Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-0DI0T5 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-68MM0P Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-NFCXEX Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-5KTEXU Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-2GWLR1 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PIKVPT Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-XEFKZB Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-UII9IC Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-S0EH0C Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-A74BY9 Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-T2J6MJ Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-PJC3ZX Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-WRX3RW Adult acute myeloid leukemia with maturation 2A60.32 Cellosaurus C7961 TPD-9X6CFO Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-1H21BH Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-TVMZU7 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-CB1YHK Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-DQ1SOA Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-WLOLNO Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-LVADC6 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-S0E7ON Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-BEFNZO Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-PINX2Q Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-WDW474 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-T903LM Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-LJ4VQ2 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-PBXU1Y Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-10IZT8 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-YEGQCA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YJROBF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EE3ZSG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z1X484 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-BVQ43A Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-KOHUUB Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-A9J84J Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-1E6XRY Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-W0L6JJ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-UR87SB Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-NCET78 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-R7ZNZ9 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-EZKDN0 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-Q1FO1K Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-S507GK Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-UBFKEM Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-KJYONP Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-6R4SHZ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-GPVSC5 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-OFFCSN Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-RRDPJ4 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-JCG1CV Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-OE7MEC Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-Q2VCZE Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-3D77X8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-38VYOH Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-2XCYVT Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-6HT58O Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-SKEG23 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-C497G3 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-R38A2Y Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-SE27G7 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-62I3PQ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-DQRYJW Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-2T5380 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-XRHCMJ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-8ET5ZK Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PYANPG Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-7Q2U5K Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-EGN05G Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-NLN0M0 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-K5B0RS Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-CRQLGE Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-GNC0A5 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-2J2PO9 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-T6E7AR Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-KG95O7 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-21NTUG Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-IQUKQC Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PY860A Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-VMH4KH Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-8AERL1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-51KZRJ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-0NCX7Z Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-Y9A5PG Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-4UP490 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-NZV3UP Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-T8NZDZ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-OT9BNW Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-D5WQVK Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-67N5R1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-S24UEF Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-DPQ82D Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-60M6Z0 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-908Y1W Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-308UO9 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-A4X07E Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-D1Z2H8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-IPZHXC Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-6HW2C6 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-XSDBKS Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-9VWGU2 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-QB16A8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PIV3F1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-FN6HTR Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-9M0I9K Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-HF3D1B Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-6CRFAK Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-EDP7ZW Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PKDTLN Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-VQ194E Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-3IJFOZ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-V8A8Q1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-SX8PA0 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-J65UL3 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-6YCESO Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-A0P8YH Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-1LZY60 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-ZC4DCA Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-12RJJ7 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-0WNNBM Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-59077R Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-2D388L Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-1PBE0Z Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-00E926 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-XRNYLI Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-JLPQF1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-XJ5CAF Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-CRKNM1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-ZYV9I8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-UUT41F Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-FXH2GZ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-DKGORZ Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PZI1P7 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-3FW1SE Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-8OYUNT Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-4XJNXW Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-KAH2E8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-N0W3YH Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-P3XP0B Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-5QHNM8 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-SF5NVU Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-GSW519 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-66BYQ1 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-PCC4P3 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-FMTR83 Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-A5TAJD Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-98CDJA Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-BSEH5Y Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-MH8ICL Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-7TIV4S Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-56DMYN Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-S2IU4D Fibrosarcoma XH4EP1 Cellosaurus C3043 TPD-U99ZS4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DM1J6Z Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Y2VINU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-92W2F5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-LDHDQJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Z1AMWK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3EIU43 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5LBL8T Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OSZXRS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3GSS6I Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-T50FF4 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-W2HR7T Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LJL6E5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-7IV98Z Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-X7WQIA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-A0TWL8 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8KRN6V Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-67CEJ4 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EPM2LQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-V7K9Z5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-9ZG8M9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-KRB47R Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NMYYIQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LWD5RA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NDUIRO Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-APM0BW Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NBKHRL Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4F6VDM Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NPN4Y1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-WDWLD7 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZAWRHR Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VE9P3X Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-75QTVB Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-828122 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-47XD2R Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-AWMPZP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-3TRGF4 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-2L65YG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ACNFLC Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-AQI59K Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-TJCKRS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-MIPSV3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-C1Z9SO Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-MSJML3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-TS0243 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-DN41XY Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-YOSWL3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4SPA5D Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VRS0AQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4GUVPG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-2DJGT1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-1GVCLR Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PG55U9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EI0ZIL Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VZMKYT Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-2RY6JP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-62XQL7 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-J24DD2 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4BQLBM Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-QR1QIH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-MKGNH2 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NH432C Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZKZY32 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-3FX0LB Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-KEJNPE Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-9KTNPT Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EEG1SI Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-P4BT36 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-UL82OC Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NPS9IT Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RNA6C5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Q3V1P9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-6WVD8O Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZZS6EK Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-C92GQP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VHOCH9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IT8C4Y Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-KKQGG9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-E8BPBV Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-P32AHT Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RS8AFQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-6A0207 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-XYR6KP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-0V0QW0 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-492ELL Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PU2X6J Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EIB4CN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-DOT6M2 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-O40K7D Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RIQPOI Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-6VI6BH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IDALL0 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-HQVILG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-WO8VK4 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-9GUWGH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CJ4VCU Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZCPEYA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CGCDCS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-J3WO6Z Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-E8F1X2 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-JPSEIN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-S1MRBK Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8W58EV Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-36EG9Y Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-7IDODH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZDPRUN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RAI29I Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-QH0VM3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-WDQ42O Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-FNRZEF Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8PSS6H Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-JUXS5G Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-1RY1D6 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-AAUTT3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-BFS0S8 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EEW8IS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-04LHMB Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-1QZGJ9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-7RHVGK Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-XES8Z6 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-5ONUSV Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ABERKW Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8B0RBY Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RWUJWO Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-HLFQR3 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PD2CZM Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-U3SR81 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-YQ94R9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-33OQRA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-KB0FO1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-7OIFHG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-DK5O7K Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Y1ARCW Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-87DSVR Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CNZ6XY Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-0DHH92 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-1IT9WF Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-TC7QQN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8MISFF Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-534B4F Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-OTZD3X Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4KWLSH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-6M3RVJ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-AHXXXW Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-L0VXJQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-L1WQSB Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZVUWQG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-SWGL23 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-3LUF53 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-HNYB0D Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-C5G7YR Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-R8NC9W Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-72NS9Q Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-0ZNPWL Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-7WAQTV Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-3I0UYH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-5F156W Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-6BMX01 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-4E2T4A Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-G0XRW0 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-AO1VS1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ICKLN1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-0HQVJC Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-1QFSGN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IM62IL Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IEY64X Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Y92RPN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZHLZCR Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-F50E8M Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-K97FCO Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LVNKCZ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-YTCMLY Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-G7CDFA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-OWJLJD Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-032GFV Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IF9QZP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NAMKZH Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-73ZUES Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-QY1T9M Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VBM30J Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PZA5OK Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NWH7Q5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-59HZ49 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-GEHUL9 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-5JGI2H Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-2E59W5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-BL9D46 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-YXAB18 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-0WBSIW Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-FKXGQ8 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-44ZMYA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-OLT12Y Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CUF8MA Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-HAT6B5 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CHDRDD Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-BNTQBS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PF5U6N Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-L92JJ4 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-PT2WW8 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-C7A8A2 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-F9JZ49 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IE8Q71 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-CAXOV8 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8UWJH7 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-5O1H48 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-G25QHQ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Z1BW1A Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-QBC6GI Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-UOJIS6 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-9ZMSS0 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LIALEN Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-8V9OYP Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EZHCK7 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-V2OU2D Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Z4BY0F Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZL0RPS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-3UYWTT Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-ZGVBVI Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-YC8CPZ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LMKZ6V Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-Q0NWB7 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-IJNCRS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-R7R0U6 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-NVRO2H Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-EE3ZSG Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-2459CI Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-RNQK6K Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-0M4J0K Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-391KD4 Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-KR8048 Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-MGJONI Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-ZMLT5F Hepatoblastoma 2C12.01 Cellosaurus C3728 TPD-391KD4 Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-2VQG7N Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-YC2BN5 Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-H5686H Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-J003G6 Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-A5XHGC Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-RFNGHK Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-CMMGXV Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-DPSMCP Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-N3GSDO Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-0V0VD7 Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-G6ZGDP Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-VOPKHB Adult hepatocellular carcinoma 2C12.02 Cellosaurus C7956 TPD-EEG1SI Melanoma 2C30.Z Cellosaurus C3224 TPD-P4BT36 Melanoma 2C30.Z Cellosaurus C3224 TPD-VHOCH9 Melanoma 2C30.Z Cellosaurus C3224 TPD-XYR6KP Melanoma 2C30.Z Cellosaurus C3224 TPD-CGCDCS Melanoma 2C30.Z Cellosaurus C3224 TPD-S1MRBK Melanoma 2C30.Z Cellosaurus C3224 TPD-8W58EV Melanoma 2C30.Z Cellosaurus C3224 TPD-8PSS6H Melanoma 2C30.Z Cellosaurus C3224 TPD-PD2CZM Melanoma 2C30.Z Cellosaurus C3224 TPD-U3SR81 Melanoma 2C30.Z Cellosaurus C3224 TPD-YQ94R9 Melanoma 2C30.Z Cellosaurus C3224 TPD-7OIFHG Melanoma 2C30.Z Cellosaurus C3224 TPD-AO1VS1 Melanoma 2C30.Z Cellosaurus C3224 TPD-Y92RPN Melanoma 2C30.Z Cellosaurus C3224 TPD-OWJLJD Melanoma 2C30.Z Cellosaurus C3224 TPD-032GFV Melanoma 2C30.Z Cellosaurus C3224 TPD-2E59W5 Melanoma 2C30.Z Cellosaurus C3224 TPD-EE3ZSG Melanoma 2C30.Z Cellosaurus C3224 TPD-JFVBR1 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-86YMG4 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-R9KGKL Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-U99ZS4 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-94F521 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-DM1J6Z Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-OXXT4X Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-Y2VINU Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-BO8A2K Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-1A34AB Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-92W2F5 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-W1W9EO Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-LDHDQJ Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-Z1AMWK Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-3EIU43 Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-5LBL8T Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-OSZXRS Breast ductal carcinoma 2C61.0 Cellosaurus C4017 TPD-E4F909 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8D2P1I Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-V3VU9H Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-VZ7FM2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QA0V78 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-RI0OBT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-9X6CFO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1H21BH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-TVMZU7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-CB1YHK Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-DQ1SOA Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WLOLNO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-LVADC6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-MKPU9Y Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-S0E7ON Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-BEFNZO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PINX2Q Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-677SKI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-TA8OBN Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2RLKY7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZC0KJF Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-N7E17M Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-U8IAA7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-O03KT4 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WH32R8 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-YIEFH2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8UDVWK Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2JR1N3 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-SKMAQC Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0QL98L Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0HM419 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WDW474 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-T903LM Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-17W8UL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PQR4T2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-LWZEED Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-NFKBVM Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8YUFDZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-35XKVO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-LJ4VQ2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PBXU1Y Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZBKXFZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-10IZT8 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-I7GILX Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3RN39W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-H9CTW2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-4F2WVV Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-84KJUD Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-5AJZZF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4SNPKN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-M1X10P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-WOWXB6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HPAVZI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZY6CB7 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-7POHLJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-K2A11O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Q5I9GE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4PHSFY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-JGJ18X Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-NXTZ5K Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1Z1KFC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-A3R1OB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-MGZU1G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BJ8JQS Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-L5CKTA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-L6RH6W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ILH1H2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3CH8Q6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-61J06P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YOPMZW Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6NNA5P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YJ0K0L Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BNSMZR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UM92S9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3FY2BE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-25EUOR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-23MVEW Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-2UIEQ6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HOOSCB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-R94K21 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-H6JO63 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CAE44E Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-C7XQ6O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-2TCP1F Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8NUE7X Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FRY1MT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-T4EVHY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FL20ZH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RYPV9T Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VOSF8R Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3A74YZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-S5HTQQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1D2ELF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6WKRZC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3PP3O9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XGGA99 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-DT6ZXF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4TOOQH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-K7152M Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-U2P6AF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XPKE50 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-0V4VKA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-EAO44C Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BHL4W5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-B3TKH2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FR0RWM Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1KMTZL Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4X399D Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-W4G8X1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FH5650 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RFG218 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XCVLMG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LGLZ3T Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CMYKZG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-PAAQPK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RH0DTO Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-EOEXQA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-WB3L59 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LANFLY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZZOI9X Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3TO4G0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KO0WD0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5H4Y6G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XSCZLR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1GAIMU Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-87SLBO Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RT79NG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZLY4N0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ROTUHS Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KEPWWV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-687WSX Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-DXSAHR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RAPHAS Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-207437 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-T6KK8X Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BXT69O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5J65L5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-L59H6W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VX0GO7 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KIZOWY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8N31CZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KULKHV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-G8K3JJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8JKFP4 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-NK3PT3 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-QM1CO5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YN3151 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BLGG5T Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-GZ9AVV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9U0JNK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4BI8XQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-NJULRF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1R8RAB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-2G6QXR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-J3JZ3U Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-NFPSAW Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZQB4ZI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-QQ9Z4W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RX9RE5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-7AH1WD Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HMJ1Q6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SBUZ0Q Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-M1RH5P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-D0DYAL Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LWVWC2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LDBAOV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RYEHEI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-X7PM89 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UPSCH8 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1RACKE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-4UYCRY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-MGWB7M Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-E9F4VJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-L8PDC0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-K73BI4 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-12UKRE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6WWM3D Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HV9E9K Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9O3CHK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-O8Y2AB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-X4SUMP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SCQAZO Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-49K5IQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ISC5UP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VGJJE3 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-IHP06P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1B6ZQX Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VBUNC5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-52BPZZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-U54D6S Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HP6ZOH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-W33ZZQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-J9T3X2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-492LPF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1LJ84O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5BBZ4O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UXZY2K Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ATSDUN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3KANGC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-JO5I36 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FZBZET Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CFGB8G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-DTPRRD Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-WRA7XB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-M4348P Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-AAEFA4 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VPR0BG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BQEJ7O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-580M95 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SIHB9J Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9H5DB7 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-JUKUHB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LLAAI2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-WMTJ2T Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-E3W6SB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VQH39B Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZIAHXN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-V8630H Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-542PB1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VO48OH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3VVXM9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5UF7MP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KQT5HQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-O45CSF Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1T7TNR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-H6IMFY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8YYLJH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BZGJHV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-S9Z7Z8 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SGMCU9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-AEYYIA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-T1WPMS Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-K7IS1L Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6VR4L6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FS3DGA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UAG2FJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SRM991 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UD9HMO Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-49Y098 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZPRSHJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-IP5TV6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-F0ODMV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ERUJK9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-A1FW0J Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZXASSR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-I0M336 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-BZC2K6 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6SYOGC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-M54695 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-OHCQDJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9E1DL7 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-FTK4MT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-LK8GJE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XF382G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SMK7E5 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XNZP2Q Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SNWXR8 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZZMSJK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-OELVJN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YTOFJP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-TKMQV8 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-GVNOAA Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-X1TLHO Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-JHFJML Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-29K6DC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-D89IN4 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-48F7OB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-K6J1AT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-WWLSI9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HO8YMZ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-EGVTJ9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-N6561N Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-6XAHXI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SWSKEN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5P1GOR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9CRPUN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VAOOU0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-M2F6CY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UUAPCB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RB28MW Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5QPVXN Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-7S830T Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-FN69NU Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-MWCE6Q Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-DKV4EK Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-5Q1MKT Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-2R3DF6 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-51ZWFR Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-GWW5I3 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-OVD6IG Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-IANANS Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-VE74ZR Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-EAJUJA Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-NUOUQ2 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-G3KLMG Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-KVQXDU Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-6E08RN Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-DEAYNW Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-CG7KXQ Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-17C4OW Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-GOSO2T Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-4713ZU Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-Y0ZLJN Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-GS7WPR Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-CH5OBX Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-JWXZNY Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-OUHNG7 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-5QCOGG Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-9NPOXV Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-VBUA47 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-QISNF4 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-QH29Y4 Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-G7FHZG Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-4QNBIN Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-S4YXYL Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C9110 TPD-JFVBR1 Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-DM1J6Z Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-LDHDQJ Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-OSZXRS Human papillomavirus-related endocervical adenocarcinoma XH0GS9 Cellosaurus C27677 TPD-VO0OTD Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-TO9J8L Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-JN8KJE Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-95AJZT Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-PMUOQ3 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-N7LN1T Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-OIOUNF Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-AWV5FK Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-69N22M Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-22IC2R Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-WJY6M2 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-KKCI08 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-RQOG46 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-8WGVWM Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-E9GU2W Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-N5ZTQQ Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-39VLK3 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-5IMXC8 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-8BCSIT Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-94JQ23 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-Q87AQ5 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-9M2R8G Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-YLIC6B Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-BQTKFS Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-TYOGSK Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-O99714 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-LA9M59 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-OEH72M Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-0KJES2 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-U6E4EH Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-DYAG9M Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-GYRBSS Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-MA9MKF Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-O3Q81F Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-E73S6U Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-31A8QH Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-GG8DGM Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-KMD6OE Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-04SYJS Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-TVLRTK Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-L0H1GJ Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-F7DPZZ Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-IHCKMY Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-K77GL2 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-D9SW7A Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LI42K3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OBZI76 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-ZOYRZX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-G11OBI Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-RNZWLE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FFH55M Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-MPIBLG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U3N2KA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-28XF5J Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-BSSSQL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-Q27B1D Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-BV0MW8 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FDS5K6 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-V2G5E0 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AK97PZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OB83V9 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-EWJOFX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HTOA42 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-6JKJPB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-T8X8TP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-W0WZ8X Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4FFP8K Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8BC4TH Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-NSPKPD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-666F1G Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8237O2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JE0GJU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-DTD9YP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-C4IFOG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-16G5IO Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-FJJPY5 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-JGKEYW Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-IX5NQ3 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-BGLZ6F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5PZCT9 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-UHP7PD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-WD4HWE Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-58OZ6D Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-1G7CZ7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QM36HU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LWM151 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HDU8KA Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-P5WAL7 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-AROEIR Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-D6BQN2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QZHAET Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-G41Y9B Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-G9B6NJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-LF384X Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VRY5VK Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-82B28C Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-5OXU4U Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U6E20F Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-836LTU Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-D3OZVL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-9X1YLZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-W86CGB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VOKHS2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-K8H6HP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-L12WVQ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-8Y3A4W Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2KW4AP Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-OVFSMD Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-QMSGH2 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-U30EXG Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-KR89CB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HVMU8E Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-VNBACB Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-IGTKVZ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2Q4592 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-F1S9AI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-7GKJDD Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-HKIFF8 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8GTRXM Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3Z3RPC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UCOFRI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CVLBAG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-Y0OFLI Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-5B8XOV Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-OWWJWQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RPQUQC Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-W4EEAY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-YP1OBQ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-V5KN1E Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-QVB13G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-93RBJ1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-RXG75T Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-1KVSNH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-F5UQ3V Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-GXXYEY Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-29V7GP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZPST33 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-COJU0A Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3QZ01W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-EK1K4G Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-KPYTNK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-A3B9FN Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SDGG3V Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-E1TLSX Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-UTPUCD Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-PS6S6O Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9RIX0C Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SC764K Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-AMX2ME Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-PRQPM9 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-OF2RUB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CUV3XJ Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-DWY2O1 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-B8SCGH Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZNGP23 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-CHAXHT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-AUFME0 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8R1J3E Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-L3DJF2 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-8HGPOG Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-9HBJG3 Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-3FKZDS Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-H2BLPR Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-XLGIZP Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-ZDYUCT Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-7E2TTE Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-24ROLB Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-VEFD4W Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-AZQZMK Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-SX3Z7M Childhood T acute lymphoblastic leukemia 2A71 Cellosaurus C7953 TPD-883S5A High grade ovarian serous adenocarcinoma 2C73.03 Cellosaurus C105555 TPD-B8LKUW High grade ovarian serous adenocarcinoma 2C73.03 Cellosaurus C105555 TPD-1V6CR1 High grade ovarian serous adenocarcinoma 2C73.03 Cellosaurus C105555 TPD-HDR8DR Childhood acute myeloid leukemia with maturation 2A60.32 Cellosaurus C9381 TPD-9ROWSY Childhood acute myeloid leukemia with maturation 2A60.32 Cellosaurus C9381 TPD-P68ZDC Childhood acute myeloid leukemia with maturation 2A60.32 Cellosaurus C9381 TPD-EE3ZSG Pancreatic adenosquamous carcinoma 2C10.Y Cellosaurus C5721 TPD-H9CT48 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-R1DCJB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ZGAWNB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-IUDH3X Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-OY7R5J Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-DZ1NBE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R8ABHW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9OEZJ0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0PI4OQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RYS0YC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BC7Q10 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BKFLHQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E8EIC1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1N93PU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NNATRU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UPZ4FZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-004EZ5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2GRWSG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZOAAXB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HZ8BH7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MJAUU1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7DW01Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S46ZHD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NIS401 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7M05HA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DOEGT7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EOA0Z1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A55JM8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9VMKT0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B3IQ04 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7315QN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MAVBMH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W9ORP2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UQ1N53 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EMW1Q1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QJTDSP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T4H4SQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M2BU7J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G2775F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GBVVV2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XKVWFV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2JJBJC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZRZAPF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EOPSNP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PN2H5H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UD3YLC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9TKRUC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SG524T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B6PLNS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7WDZ01 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1AGN0W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9CBLBF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UBC1Y9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WUTW8J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S8HAF6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FWIJ48 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DBUQU4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BHMH1V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EUVVV4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HS7THX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6E6CSI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XCGXF2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZHSC1S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y86TKW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4SVI2F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-94XNRL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4OCFSY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-USZ6ZK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6166VC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6EIXPG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OJ1LCY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O69Y9F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0BBMXD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z77XC9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TD7TWT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GX0X56 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5BIFAJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FSLBHX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QJHUV8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BY67MM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6TDBQ9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DYSPUB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H683NI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FDKRO1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KC9832 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A6RRP0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WRK41H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DD49NA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CQQ88E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-42NQCD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EBVIK3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1Y1HZ5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QNWTZA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F7FIFO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZAX8FK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZRGZVD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H5T59G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NJ0FNF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AXLB88 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OYWEH4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QQ6BXN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7YWMB8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZT2ORX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L81KV8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ECFTAM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y0JTE7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YYHQ5E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y7QO6T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GWN0P9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IOQT0R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NCUJI4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X52H79 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7BO4UW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B99HGC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LCGG6T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BUJCH4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N237VU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-934CHS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-99IJ35 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X2Y0U9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PTZGVX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-53YT2K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0XQLNR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PEWO50 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M3LJ7O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z2VFBG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LPY21B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2KZHNJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RNLTAV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZWYK6R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QF5LF4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V60PUM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3SRZEJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D910XJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C8DVIF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YT4TAQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S8JGK1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EG4485 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4VY0I0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9NY1AW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3BRCEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2A0YIS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JXBBII Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HTC439 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KNGYEK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5DCEJV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-284Y5X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4DR899 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9UL8LB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HC14L8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-46JT3C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-07QDLI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K9SGBX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ITUTZ6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O4NV86 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G3YD2T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7QPC9C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5BYWN3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OB2IG5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HEFDL2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0UYRNP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GCNKRH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O44L43 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T04RJV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VXDHIT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M67VON Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y4USCF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X8TQHK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LSBPAG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6TLTDB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1JMZE8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M5S3ZW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MIK67G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XDUE1N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1Y5V74 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I2MO8H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2VK7RF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J3LGIK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KBW29Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ENU68C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5M8C71 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OPGVL5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KX25FQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MLDFKB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TR2BPA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WU45KJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JFF0OL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P3NEY2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LG8SQN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KEP7E6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FJEBEW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X22ZTU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L1MFK8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QOWN8C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F8U8P5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5E33NT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8L7OPM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EAHZSA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2AGBTP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GYVJHW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RA3F8P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PL6FTK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AXNGZW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4T0FUI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A7C8BC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TRZWMX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BFH475 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZJM4H9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CW513M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K6YYSC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9BSD54 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WL5YPK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VMA20T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CBKQMB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PY2AGN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FOQ45G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F84VOJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TI1I8D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CMPSD6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LNMCDQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H2L85U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P1TIIW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JL0YZE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E9TRCC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-33NYNV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DRTSW0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IRSH1L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D2XR50 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V32RD1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6Z3J6A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TFH8QZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SA4TR5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CGDGS9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9J9F83 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CA5HUD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M0M92M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q5AEQV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5WZBTJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-21G322 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-421VCT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XB6XKK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WL030A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XB6KYR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HNNRVB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4K7XQJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6IMYLS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AK3CGP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZPD7CB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6Q283P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FKPDVW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q7Q2GY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W4FTRO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CLOB7A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VAU3R3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZUDGZY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-89Q7D8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DEP7HO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IXFF6R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IRD4CU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AVWZHM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L6L7SF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZTALXD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TWEWXL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-40QP90 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9VJOW7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TLX38R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PYNE6F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4440EH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O2FX1K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A82IM1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OHN5WU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q5TQ2L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6YUTCX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8KKTS6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QIFM3S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-409HNN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z7D68E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JNWWWD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MN3Y5G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MCTKAI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HCS21K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8TLEAJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NOEILQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8TI7CK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZYD4AT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H30979 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MD79PH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JRM0UV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WLX8SA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DBMTQI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NSG9XY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4B4HYF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DF4UEU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5QEGPO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CBVFOY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XF7LHU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H8S6JP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2XUEI2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T48IJJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RT0HGF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C9VVV9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KTMQB6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XV0FY6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EPYJAM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OGRJ66 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IGT9BG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K78P88 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZQS4R6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2CR044 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7PXBE5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XCIK5J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B14L3D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-078MM9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V1W32O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HG437P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2GEAXX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TWIK4D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-202JO6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FLE5MM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B0X7PS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W1X555 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8SV5GK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AT9YDK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HV202J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N4MR9M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6K60NO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7OIGGO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SLBZPJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZZQMMJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7D1BDX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LN7C6K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z6XYMK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IEAP6J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T9AL66 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YD11G2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NQCG77 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MPHU0C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PFFG86 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5YS4WN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N8017P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PI99IW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F9H2ZQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SM6EHV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DVRYBI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ECWYN5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UVQQGN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GTQXW4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SP5UXL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q615M2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PPUO5O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z45R6C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SMJWH2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BB8I3B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-31WJRY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1NDUZD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V2AUMX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-30Z5CI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CH02JY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K0LAG9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GW5XH6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-000ICQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N85XX8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-63JEEE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OZHP5O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4M1JKU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OE9AQI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YFJ0DJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P1PY45 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7YPHJ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VY9IRP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZI6HL1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q4F021 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2JVVRH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1073U5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZMY2EZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RFIJBM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-42SCBM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0R3KF3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UNB6PX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4ZF21X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EUDANG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E9RD8U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D7WU6U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CLBYGU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WR7D5K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TWJ0YY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CH6TU7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TSPVGO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WJ4G8B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KT3I4M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M9VI1N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3J1IL7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LDB71M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K5AFTO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LWL38I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2AM12Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TJHD3U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VFL2SZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A4Q4R6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J96NZF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-576XBX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U1LUIV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MUA3T2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U5PL2H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9MPCBR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JUQN8G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S1VBGN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IPR07B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-74GE03 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WXFTM3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W9M4UF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1EY8OA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JPRAFE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BUWRCI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HHSAZC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OJJMKK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HL2APC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J9NKAE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7FBYRQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UXRU3T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1GP5MF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MEYUDF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ONK8WG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ROG0GJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6HZFZN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B7WX40 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FS5MG0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J7AREZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YPHSA9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VQB4NH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JPANGK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NPNFQX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GALFI5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-II8NVP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FEZE1I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9E87TE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UXOJBS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-08F4E4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-09N7H8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OEC2EB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AP24CN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ORVYFN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D0XJ4H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9PMRMT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7AG1D2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZRSBAZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4JKLAK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-52BDBQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MQ9KOB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TMUMCR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JGSA3L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NTYJ8I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4VVE88 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VRTJP6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WET8LU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MK3J4I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-05FFW0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-43KBBU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FW80DE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DSUJ5W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0RCF9L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I6LXEJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C2U45H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RQ7U7F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2ZZX4K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-05GZ1I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6C35LE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SPHYFH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EZTNUF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-58XF8R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DCVHGH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-15M7HN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BCZ4LA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8TUQSZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W1VRTS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3G4L1X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EXXH28 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AW0DDM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3TB4GA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UGBYID Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BCV2R8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AGDU8H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CWB2LZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XZ9D8U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MDNC7S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UE5IFX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ELA06I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XGQ3EI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JR8VEV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LYMSIW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N6802I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3Z65CU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J9CMRK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1RFIX5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5H0CQ2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TQ6IIM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VS60RZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E6QALQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7DI8BB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BUC3KM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EJVZAO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I34YJC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZAG340 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IWU8TU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J63H8G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K155N9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MU4K24 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GC8VTV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WXZBA2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7WPKJK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OTUXYE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YTBCR4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5HVG2K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-26EO5D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M7V4GI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WA7FA7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GYQZWM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FNXEQL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E7ZWX1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BOVZG3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C7UMZA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BMS3US Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CRA36G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G6BBIO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J3QFWZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BIZ13N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J4R8W4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NS3LPJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JHSMZO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JOYP1W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GQJR7X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O40NQO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-306Z1J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5LTCEY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OIAIOM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0318B6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WT5ZK1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0PGMC5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IW03GQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MNPWVI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EF0FG6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KOCI3V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QTFD73 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-15WWFF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LIXMXB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A09RBC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-387CY9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q21RUP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KMCGPU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HYV64R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7BHO3C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OKJTZM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JHMGPI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-33QRW7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JXGVXG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I8O98K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X1E41H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HF29M7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SM414V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QNIPCL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NLX336 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LP1AHX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9LN0BF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XY1WL8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W9MAOD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PLFSD1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J9011V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X7JF5L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R84XN1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EK57B3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3M71HR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GO96FT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3ZL5OP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VKGE2S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3DJYEW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AP2AGK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TJP7G3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7G5ZFK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KGGCY5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VPCUIH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RA7WON Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E5301T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YKOPSV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CNMPMP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JWJE4Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B1RW7N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EEVR2V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KBGBXJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NJ26VH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LD1H6Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6G9N5X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3S177R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8LWC64 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-15VUP4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G53YS7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RJ6SYA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YD2SWH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1RLJJ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-49ED3L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5MBJ6Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NA74GP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NMZA9E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0O5URK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9HUKRO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YLA3ZB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LIGJN4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GF9TLH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U7CJK6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2JM681 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KZDQ6N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BZTMYG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LKAOCG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KKSBS8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y37Y2B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VW9FH3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UEAOO8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BDE4O5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LJAKH3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3YBWUF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LQTPYE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TZ4HSQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6US0ST Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2TQYEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9J6MHQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PKWX16 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IGAR4N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KXI6S3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X4ZL6G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0FSCSW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-94LRQ3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BSRWVA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6KQJQF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ON69QL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NQC3OR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y0PD9R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W16FCW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K9SO30 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TULKL6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LUY8W2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OY5X99 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2Y7XAW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V8MMSD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P94ZRY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F03UDH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D419OY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PMSQBB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZB3RCR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JOEYTU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SDX2ON Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I1SRO7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4CG2UG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q8615W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FI8G56 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TK3PYN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N1ITRX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D57RWM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1T30R1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-814GCQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QIS1IV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-09F328 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EOCU32 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M6JG3S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-180S5S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K4L81X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AYIU41 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WHRHSR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S2CRHU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HYL4OU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-16ALZJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3JNK0X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NLEKKX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2UBFJL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PASGCK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UDZP7H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1PNMNW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AE6XJ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LQG0KN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QYM79M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q38KNG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BWICZS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-583QIR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WXM1KK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2PPUTK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P4RIXX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IJQ5GI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QJNXZU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-38Y2LV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W5AX37 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W014LK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3UX8NK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AXLPOM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SLYXHB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WJJ86Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NK14H4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7XUDOW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S3BX57 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KRVPXI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HVO7WH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-60SFZW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MLFDUO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KZ81OM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BI17H4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RNRC80 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UF4E1Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-28UKSX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A79JPV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P6YOLK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-824TTA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5U467L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MZDDD8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XV6OIA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BITELX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EWXDAI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VF8Z3P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-INYPO2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GQ2UGM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M8MBMU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D976CA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L2M7OD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7GJ4M6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z221D8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RRGYKX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-66YQNW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KTFTYK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H8QLWE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-57NYNE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8KOAKK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LY4LCY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4K1D18 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WWHBR1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3ZVLNO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GWVUR7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QHMLT7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-17KNTK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JL2PW1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4KMUUR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DKLW1W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q2GYI6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y866J5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AK6RYG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-752D54 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JKLZBM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L3VW0T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TQIHMG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IF08QI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4LY02X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0YK4F9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KXEE4Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H17CES Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IYFWPH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-26UX3J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1ZK0N9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z2F58H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T0WFS3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XOXIIP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KUUB56 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZT4S7K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3870VB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UARODO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-37FW84 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S5YGG3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-75OIL8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N40HX2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I1E9NZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T8009T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QZODOU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4KTJ90 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8VWIDM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8G1T2A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YOLOP2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3VKYC0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X9XWIU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-71D5YL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R727ND Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F43UH4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TBEL7W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E7F5C7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MZ142C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EHNUL7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I7G8UJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z4E72Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K0O9JP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DJN393 Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-VTM4ME Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-9VB11C Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-HFFAET Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-RKWK2G Mouse colon adenocarcinoma 2B90.Y Cellosaurus C120044 TPD-CE0QWQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9ZMSS0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LIALEN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8V9OYP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EZHCK7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V2OU2D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z4BY0F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HD1N0F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YMAC5H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZVL961 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QUMN6O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I1QE0G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZPCV3N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y6Y6LY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UEGE2H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PIRS8N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-62QN8U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S60OUY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HZLUXG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AESTJ6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A8OE38 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X0P7GE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NHAWBD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-94ICBI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RVS501 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WPO527 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TYZP2O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DRV2KB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EKXDS4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-33AALU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MVAOMO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GFT7II Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CS2H1X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JHWX8J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6L1OCN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X3DCAA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PXSMUR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QUX91G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5E2J68 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CMSEZ0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T27CRP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HVD13O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VNMCYN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6PDP1K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0HNU3L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6VHGA9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N5F4TI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JN5QZ9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HM6T0E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P7UO5O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TSUPGY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3V9LTW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C1WJ8K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KJL9O2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4BY2WL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6WIT7A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-20AQ9V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-34TXOP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AXR1K7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F0X0XS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-39FWU1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-30OYE9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G2LHZD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VTK8RW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-49GJFX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P93B6S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NZ5HR7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EHQNHT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G2SMTN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-43KLRO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H86KFT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JS9IN4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IV1YRF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-78XGWR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XIH6LZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1E5A3R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3YLQ8G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QQYN43 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HBLRS5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-81NW2Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1V691G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PYVCO0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y9J4R5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5JHTYI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CW6L6F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5O1PWA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VP87QO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NAFP38 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KK5DQT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3IA2VN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M503EE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3FR75E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JR1PXI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OF8JPD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IKYFWV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7PAI7H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XKQMS5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JAH3CR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H324MG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9JQN02 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G39VHL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CR7ZJ1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EEU9H4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W7AG76 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-URMMZT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-161JWY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0YBFDG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZHMFYH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YIITA5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DEZWUQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A9P88G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ABOA6W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VR81ZP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-52WNFN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z5WG9D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PZNIZ6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T56LHN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6FZ0NA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FL0WCS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-37DSFB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U06AUI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7LSTHX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CPPCYR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EUUIBA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HOM9OU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2LJEQ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J7L01Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QRDDPT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RJX2FC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0RTQUU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XUWYPA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V6PLWP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KPSXKY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RM5J4Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8MPDI5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-16SIKY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-POG3L1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CUIXNR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EXDB9F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0NSBRA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HR6SQX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-92ILM9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-23CYQH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OZ7BL3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RI3DDA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H9TNOG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NR5TN7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XB4HD6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TQU5NB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FU5GX8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-04E2CM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KECYM9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-42FBXW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7AF0QN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IUTY8J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5DJS2Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SVZV4S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RKRPV2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y240KH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9NYN3I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DE2CZH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9IFP6U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V2WG6Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-42QQ0D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8MP5NN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3OES5D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HX2G28 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ITRZSQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2HS95D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FGP8LY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P3OLZY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DJVS8U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OVQVQJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-25Q7M3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NIK3TL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZR803V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0R9J1D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K4Y01K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0KK29Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2Z1T3V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y7NOCC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R2WZ0C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4N68ZT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IJHVMM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N0DRXB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SFRMUL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LQCN5P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DKF9CD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-91HC5X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E3208Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2326Z1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3AOF8A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AFRAGX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S6PTYR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JDHOBJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TJBFJ4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G9TER5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S0J9YX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DBF5U9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZCAWYI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9KGQXP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8A21CC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B4JCPC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T8414J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y6T5O2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V4FXD5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L7CRWR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9AXXSF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LS05XX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UZPVZ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NYSER3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J9JQPJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1K5TTP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9W89ML Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BHN7L8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZVGXQX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VQXWWO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TC99Z4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y0YU2F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4G4L3R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ELLJS1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RBV8SM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RDBUYP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H2ERRZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X5MSQ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8KI8WK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0U8GYM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IYXWM8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9R7NGO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FRE1SM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KTNU7X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S3KCT7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XOLYAU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V1WCHZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OHNMD9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QUSM35 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y99JUC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1XGWDL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7R6JNN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WHZHZC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ERNMAA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-44RY43 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KD3I8V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3XJHKC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T5KXXQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JMKL5C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RGS5TX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VAVAPP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-35O6IF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3FMIN7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1HEXBC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XPCX6P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DPBY0U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LKGR0A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TNFR3R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GXE0QU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GTB72V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BMJGPU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W53QUT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O4CAGX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K3JUPE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J4PTX7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YEBK6H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-202M5X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CTVA4Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JY0YLD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KHP6HF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SJJHIG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-21SEZP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M8R4C4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QFZHMZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AJAD6Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3QWGH3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N287GP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JS80D8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YGHJJ1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-90KTS8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JX8HBR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SRRADW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MPS2JC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2NTY54 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JH725M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7OF9OP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R5DVI8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P60614 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KLOMH0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9RKUBO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EWS7G9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W029IW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W7Z7C6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4WBB1C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FAA9U5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TAHK9I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RY9AHV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EAMDOK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GW3TOO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L3Y1PN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W69OW2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R83M7Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4O7V7C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P460S3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6JOFN1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DNJMG7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DEZZV3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-52077I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HZS998 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NHOVUS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PKXGZZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-861RU6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NPZX65 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J955FL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O4D708 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FNUAYP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-24I4GO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TNQXA5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S7GN95 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FLB22X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EKBK5K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MJRBPW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C08ZN9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SX1T3F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4AZBKK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PJN4PL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EIE1DJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B70RJL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LY0XN2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TDS0UY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KE2ELD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D0H2AF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VXAWFA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8DBZ3B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RFQXW5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-67NSE1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4BT8BD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZNTKIP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G2DRBK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FPEBFF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MCUL71 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TD54R5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IT1JD0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GX7RLX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IEC8SD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6AFRR4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-30VVED Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IU2J6E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y3FFKE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2CIYEK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4AK0M8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3Q1P9N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J147ED Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HR6M5N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6LVE1J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6NT5HP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N6FL6L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QF5QEG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4LN5QK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OV572U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PWZ7TJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RSTHXY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QSLP0V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KJJ6X9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-217NZY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9XSJGR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9O6O0M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M341KS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TCDO8I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X0W368 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XLV24R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-018BAC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C095TX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FUP8NO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4ERTB3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H2NT3E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BFF8NM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MU9FVC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J3KJF1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MQQXZ1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-METUDW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZT8ESJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ESREXD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0C2S51 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FI0ZZU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IOFY0J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1MD5A2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WNDWST Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CILLGM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LOC8SD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LGA0A7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O0Y75F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T5HWIX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A5O91X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H3F6I9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4G7BTK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z9IAEZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M5USCD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6ZDXST Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P8LTKS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AD5MR0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VIW08E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6O1UKH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SAJEH4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2U6LD0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-11DHEG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6NYVAE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-39EX3A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6LSDYP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WLMEGK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-342Z3Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S9D1QZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D8U707 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GCWNCS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NPNCT7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZP7E6N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PO7Q6X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BQTL6I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UAUUX6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1D3NQX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NTUS9M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9H0CMR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K59VT2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-937LRU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PVNUD9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NZYK8E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2TDISQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WC7NHK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QX03RD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3ULC83 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OP74FR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FC634U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DL2X8T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CUKASD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OP77NC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M3TK88 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3ADSJB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R8IJAG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SSIP8H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FZO633 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZT2W98 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1OWYPK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J7L5RY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z08Z6J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JL4664 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A6NCVD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YU77OK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FO8E4W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6PK3X5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6DU4G9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HW0WI7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R8UKX8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KKZ2VC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5O85EG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K2A4NX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K204FS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XZN82P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E5KWUB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4D25E3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VH8RMK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4YAFR4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LGMDNP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R25259 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QAUVCU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NPRH35 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RQHOTZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1EM6OB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SHBHAG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1SLO08 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W5AWLP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I5YGP3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T55BEX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-THRX1B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G9A2M8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q2WW0I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8N0EAX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0NFO30 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4OYO47 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TIQ0EW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4NSF2V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PMGU7T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EUV98X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CML6OX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X923CX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LRGRIY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HH996P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BR21F0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2QLITZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X4S0EF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M1MG4H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V5GNMG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NKFEVA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LVHC1P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-51P05A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DUZTIF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TH3G0Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W0JIFG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J3IPRA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-COJFOW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6ROAYD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CQNERX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ES3Z8O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BU5CZ2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F90WW8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TJYVJ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J3JAH3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-95A80P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ITNZUV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-02LF4N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J0JWPM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B0ZBVP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KSXJBC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KUHSMY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EHULFJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0XLKDI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-95O9NI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BP5JK0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UHT665 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N0RZCW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LPHFME Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H8PVB3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E7PSVO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4QWL6Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WFO22E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BYKV5F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PSUJ02 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0R289H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4YPGT6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IM5D1N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q27UQM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JOM7YL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AGJ5HA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XUZH8E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AUKHEE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9WXTDA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OHQ2DX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4ETDNI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N50SO4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AG7N90 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T1OT9X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QL7V2P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GHL25W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C6YOD9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TTNRSF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HORUQ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HE8VL9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K2GEBV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ORH35Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-72NPI1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y64NZY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CNANTR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SMIWCX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O3VO1B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NWMI6I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HXSC2V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L8CMSB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-151O2G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0N433H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GUIKIK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5A2TDQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-775V6L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GB3K30 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RJ64QJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6DTOCX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1Z7024 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U5VGPR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QBSANH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7NFSSH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9ZHE1D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IFCL4V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZRPZKQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D15Z7B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KJLMTT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZHE74P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3LXFAR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XEO3TK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G4LF0X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N6UHI7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6QC97K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RS4QU9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KEGLL7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C09DZY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DA54T7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HEEGM4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2I7K4O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PMY7DE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UJXKNL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3JF3PB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IOQBVX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HGFP89 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G6L47J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FAVOB6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AIKZBS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6U8DPO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C7QV47 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A3QL35 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B9Y7KM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SVVDJJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F3RV2B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-75WTUK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LPOWRY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8HXJND Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S4P839 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PQFQ0N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O5LSFY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q2JV75 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M39BDS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NBPKXM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E8D80K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MU9G5F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U2Z09R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9I4H3Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KOHXA3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-909TOM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LRCTDS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5BW355 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C2FWOJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GK92F1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NNUVW1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GKCVA4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6CFG28 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XWFF3B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q1YH6K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6KBG3X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BU0LDB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IV4IJI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FPABXZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8OMM0K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OQTO8F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WSP8PA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1PRF32 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SLIM7R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NE4VW3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CEVA9Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X42FJ5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RDNHCJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F1NLKE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W027Z8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5IOIAO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QX8UKP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-02MMWJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-44BTXE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AB171K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DCG357 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U6X6TJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IT958P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OY2ZL9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O3QHHC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HU6XO5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AGVWWK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IA4KEY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5BU0KF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QXXCVT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9PN5DB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0SPKV6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2AF2O9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N5KPCG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NYJJOZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-95PYGN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FQPLO0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-88S6EB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TKI4QK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TWTLGN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-05O45I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U3OHF6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GKDLPB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ABOIAQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JPCVN4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TPPHQK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DIQXGJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UXMM8R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2ZVEEG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S479CS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DCBQGH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2QVHGR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HLNBVW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2DINR9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7OOYXU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RI03YA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P74NPC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UW72HH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T523PH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-23D30O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E5QBVA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-18X2TX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-021U2D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SMKUQ6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QXV3K8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YZNNRC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NI8OF0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MIXG1P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z58A3M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NSGO8O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-38BA3J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EDEYWF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OZ9VL1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WR9VK4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BLI1WJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SH5V0E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OHZXTA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YEZ2VB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IYMNJ4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WSI4AA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H5BOBW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SGNSHE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OFD9CV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0NNPVN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LP37OC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JIPFF1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UMC1E3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PBCLBB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-253C6I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WX8KAQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LF19WH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NMGG4F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QTAKE7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PJW23Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ALQDVH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MW7Q2I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LRX5HA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MF60RE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2S7DKD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZTFSHF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HE83F1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0SOT1G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L6Y6FK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MSN50I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8KS6G0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MZDQ5G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1W1LVR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3IBKF2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PDDXMB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GRSFRM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RUN2N4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CTN5JX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GASAZM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y01UK5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7J8VOF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZN68V5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1JDCQE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-020FXK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T6H1ID Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UP2BTM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PW7RFK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YAE3HA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W324HF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q6NF0F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YZV3P5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0HOM0O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SYRLZH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XO7A1S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F6HIEG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X4R25N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HXK3RG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-48WYIP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FMKB82 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NY2G2V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SCZT01 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CWIC0Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BBARKK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DMO7SH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XC62LK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BFAZ5U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B6NDDH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KR1WQ0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7E3VUJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TJ7L1B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FDRYH1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-905Y6C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1RC6G6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AZ8V24 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VSQPCU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CV4MIY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MM6A9W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-165ONM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-909EOJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SHDMX0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IY8ROV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WZ3U6A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IMINMT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O7JMJM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8OV0RJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QI2PI3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D767QT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AZWQRQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1XU9D1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q6Q90O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6KSTZ2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C3OYBH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6H7CS7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E3GU75 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5AU2MB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XP0E6L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TMUJXT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3TCYZT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LOZR68 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7G6CPH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LF7EDS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9DD1TR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HR3U8W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MZ5U3I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U2LML7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GQXWKR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EV0R3W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A51K3O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KLQQVF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MNGW3U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XX0XVD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LMHLFU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-878IJ7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4CB17O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LZUCUZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VQ4QTK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M8NHYO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CQN0FF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JFVBR1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-86YMG4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R9KGKL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U99ZS4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-94F521 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DM1J6Z Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OXXT4X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y2VINU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BO8A2K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1A34AB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-92W2F5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W1W9EO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LDHDQJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Z1AMWK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3EIU43 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5LBL8T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OSZXRS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DFPT5G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-26VRBT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZH0XLP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K1WMAH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZQJSKE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-86WV1E Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J8749V Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-05GX7I Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AGWRD9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7RI6OZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H5F9QZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A5GUOU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XTCKWX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-42ESG4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-D08IIJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SYVNMU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RROGMK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-I9DKL8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ITNT9D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y5WJK8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B02D15 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-URGQ98 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W5HZ6L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XK5WXE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HQKKW7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MTUBIH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H7VVGR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A1D40N Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-73VTC0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-557YNP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T1J9OG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-24MJP6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WVQ3WO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6FA8UV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RGZ34T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-X85W0C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SO82IG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RDJ3PF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-D5D2S8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5LM36G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8RSS4T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AY8EVA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5FWPPW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4DWUDW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AMOFZC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5Z3LSH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VTUA02 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SVRWLW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XAHJOI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1BN8YW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3N77SW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R9TITU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CPQJGX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HQDK1D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2B79AH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NQWLUH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5I8XPJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2VWTRU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-58XF1S Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CML1VP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4CJL6F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YIDES9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P6E9V3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W2P4LP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AB89VQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IYZWCR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3W1I2W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-82MW9L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RIXIHP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6VJVRY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KT3I4M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LDB71M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U5PL2H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9MPCBR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JUQN8G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-S1VBGN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IPR07B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-74GE03 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W9M4UF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1EY8OA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JPRAFE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BUWRCI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HHSAZC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OJJMKK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XL708D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EX6FM4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0OJC2T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K3UIXG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1XJ60L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-M040VP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1EWCRY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FSAPQN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HT89V9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CMGNPU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-78RWKC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XYUHVS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YNWQW2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y4TQDS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9MGQOX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AUZ6AU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J3OUDR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T5JBC3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7EFUJV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P6RDQP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TCTT6A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MICMW5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LKR1T7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MRI21Z Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VU093B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4QBAA1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VESFJC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KYCXPZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BI5HUO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-I4J6I5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6SYX7K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L3DEVA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MBDEJB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FUCLGS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NHC4E5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OSMX1L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P3A2NH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VLLJBK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3AB9X7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U2S21F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HCDI5W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JKMBGW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6TT4UZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-N0FTGH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XD9BGO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IX38DI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T9CK08 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GCRV9T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UQTZ18 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8OP4Z2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B36S1B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7N3SD5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZGV6V7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CHXEIS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HYCB0R Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q9413J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MVEJ3E Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Z96QD2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QA5BQZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y8Y8HX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EDQT17 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LB871B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7AMAUX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QPCGK3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RLPEW5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8BFZNF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P9CAME Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0SOXT7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-59L0WI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T074GG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BAANPM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4KPA9L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LACECZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2LI73I Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MV5223 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5MIVTY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-V1PLQM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-APCGS1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ARNZKO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B4T20T Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T6J4IH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JFV51J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7E70CI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BAKKET Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GBTRDQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0U73VO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J5UI4O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FNCT8Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A6D5GL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-799D5C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GTUZDD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L3ZN3U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7VK6BZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WPMAZV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CYHA8G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HS3SIA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F57ALN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TH8NEE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-79UAAX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2AH9VB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LKK76Z Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K8AJN8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AXHVUS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LDCG0C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XTJGJS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0DXMG8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ND5CIP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LFWQNP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-I1B7VE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JDBIPZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9TNHCO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IH5RIU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F98UMV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4Q397G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WJPMXR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JX3WNK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B8A6N9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UT13IB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1RJ1H0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-D4L0IT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-S24JEZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8Q4BKG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7Z1UOA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2316NK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SZ4L8W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AIEB8S Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SLSK8X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NNNWTC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VX9GKS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HQOIB3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EIHKOL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WSBNW1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IHSTRA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PGLCMD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T4ZW92 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P93ZXU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WL8GJB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-X5RG0W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CNWZ6G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MTRBCE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-56QUSH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9Q8H5O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0ZML57 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YOHUEE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8EX9B7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SDAGOG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YKYMI8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PTY3VB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NOMA16 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-49076K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LXR494 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T2OH9V Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GVWZGH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0ISBGS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZA8I1B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NV6O2U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ONHENJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YW2HBZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SQNNXC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7DEO5R Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QSVT0F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WQFVWB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F5AL8D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OALBP7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6SZW8G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J3CLWS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W8YVDO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KLULFT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L1WU83 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WP8I8W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CV7S5J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2QK5BL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OWEWC7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IWUSKN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QXB531 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JMEZYZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GZQBM4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-I70NOG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K2U5XB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FU560C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y9FYDI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5ZRJ81 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4KHOA7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TVQ7WV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LS6R1C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-35YGU6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LOV9BG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VFV7T8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3486ST Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XRN80Z Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K8RTCO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MZS3AJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y8VQU2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LSB7XL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K0XWRB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-96VAIY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ITQHLQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4QTW7L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H8WDY8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZFAHSR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-C8CYHB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QXXPG2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZESS7F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IB054M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J9RNCJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y9DOLR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6XJTFJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5E6GME Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SUHOR9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZXCJFU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MT4CJH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IN3JCH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OS0HLB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-883S5A Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-B8LKUW Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-1V6CR1 Ovarian endometrioid adenocarcinoma 2C73.01 Cellosaurus C7979 TPD-BYII1J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OQG9UV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6B7IKY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TEONLH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L4MWOF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HQPUMB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KH3KK9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ITHY1L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HMXGNS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8IRMUT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CL8SEE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GMYM1J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YQ9CB6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8DQC6N Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H0POCF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RVRDM1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DBEPRP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L1V5DV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SWPS43 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5SZSVH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8593VO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7LAMDQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FSVU4U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1YB1T2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UUZJGB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-02T8GS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FMYXWD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RC4X8R Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9KSJOO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BJQZNS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YHCB4I Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OYQZKN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K8TWVD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6JFMDE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FG36HB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U70EMW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FML7OH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CAOCPJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LEGRI0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SW3RAO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-J1Q5S9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5LJA64 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BMRH9K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9R3NRH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GIDZ4D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NOYNEM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GEAUXG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F24N3W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-755WVN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P8T0CR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1PR6RP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QOS1Y0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8RN0AH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6ZGPA9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-E4OKCE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MW73HF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JJMCXR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QHJZ18 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OP297L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PCDZE8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7637WG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-S2HG5H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YQB7BA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZVYQ6F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-813O3U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WU3QVP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W47W8N Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-N94K47 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UKCB15 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q39D2H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NJ6R5X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DTEATC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TIZ4EY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CXOE4M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P4ND6Y Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W5B2SX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P19EWV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VX04MV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MR18OE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9OJC87 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VUKXMX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NADQH7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SL7PNU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TV5IYC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7VB9OZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LLPPHI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MRMGAT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AKUKF6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EGMJ13 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7VH4DQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BJKQZT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QCO464 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MI4ON4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Z3POVO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-48SO6Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZK6R5J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6HC15X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YP61TF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0EJTIQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1CWV99 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-49RS5U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QZVKOR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YBSLLS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T2I2VG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YFG1DF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H942ZA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DRKO2J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MOBLER Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P7CC4H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XS1VMU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HXESI2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TVYMNB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-H7SEI9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U935PN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-52G0AS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2RDVSR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4NZ0F6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K1D495 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F9CZS1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-O3MDOK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6TLI6A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B41YJ7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-711PT4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-93Q8WO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ACJ036 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P8KLIE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0850V7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IZ0AWL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2SFQA1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-USADBW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RRP67V Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-614UDB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EN3MN1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R98EM7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Z7UVBO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YXBZC5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QEREW6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JGSUPV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-12S75X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PFOF24 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RCK5YP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5QTLOL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K4N2W9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XZL05Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-M02KOL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1XZRUE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-X8ANQB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RQWTMA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8Q8TTT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L4QZWQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BN5ID1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WWDGBC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LL1289 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QHYM7Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8YPO9C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UA4LNK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A3EJ8F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UEBV5L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q0R2ZC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VVPEWF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1TS0NP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XEEYBI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3VPEXG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q7HW45 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4EZYIA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UGWULZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5BBMDT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9FFMGU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DKJ4PJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XCTCV9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ASU6WY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9M4EVY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VCS18D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QM9IFR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1ZW5LF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZRRDQV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HPAVZI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MDYB3J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZY6CB7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-K2A11O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q5I9GE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JGJ18X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BJ8JQS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L5CKTA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L6RH6W Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ILH1H2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3CH8Q6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-61J06P Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YOPMZW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6NNA5P Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YJ0K0L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BNSMZR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UM92S9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LE5ECE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-E1IVF5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-G9LRXD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PWUGYO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6FNKEF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PIP7CZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F2EBIC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CK6NV7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DC273Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NOKBMZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QDPV3V Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5LQZUY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R8XHGY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NWYELV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TDQ0VT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q7C68U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3XYN9C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2SFJRW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-V13JB9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-E19Y1C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ERAGRA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-38DQMS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BVTURY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZN0AX6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MFOOV9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9XZON7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1PDRJ3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9B6DM4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-30LQON Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HOXLFN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6M9SJA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KBMGZ0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7GV0W6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YDT73C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3538GF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OFA19E Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4M0UHF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-TKTQVR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0N0FYU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4BTL0J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CUYXRW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DPUM9Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4KDX76 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ONJGJ8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GPRGF3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3YTVNC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PJJDVV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DV3SS6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B90O5K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HD1N0F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YMAC5H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XQA78B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4M7M70 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EHCM3B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KVVPTZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MQZZEJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y3OHUP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VTD25G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3WGRAG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U9H2V3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A4S89R Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SE5V82 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6TICK0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PUYITD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7Q9V8O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VUU5ZJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UHMGTQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YUPO2H Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YHZN6I Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6FNH75 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-XW9T2U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R8WDXS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Y2E838 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-E7V888 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-PQOEZN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LK894A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-51AS8A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B4I5VB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8YJPQG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VT54LB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NPUVBU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B483R0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DULHCD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0BM9RN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4U7KMJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UUDU3V Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A2J34C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KDQZPN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YMUYD4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JTCE60 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6IWRNI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ECN4KZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0PS2X5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UGF1L2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-C9P7CQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R1FIIJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-0FCPYO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AEI0XC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LW96MO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-144JMZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-9L5A3Q Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-32MBS8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-S1G2OE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MK3TY5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-321XEF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-M4YOX2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-38LKWK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-93BUB0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LJFFE3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NZOIVO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8PON7R Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5NQ1PR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-49MQGB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HFIVW3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5M1V3N Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VTDE3C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6QL265 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q8C6B2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QDRLHQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-URIK96 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FYTUV5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ESWPR9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6DE47M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EZAEKG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BVMJYM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UY5LVR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OMVLB1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UIAUDH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-71DGJV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R9RV4A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L76OP4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A3ANKS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3XN9WE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FLIPPC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YYP0NA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-M1J15I Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AQ99J8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KGP3YE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QTA3PX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SJVRFO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BLCKHN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WX9QZJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P4IF91 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YRXZMA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HBU2AJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NYKDPE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HU8H03 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-VDUQQS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2BQHXL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L5NC1J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-P1INIC Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UMHEN9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-A66OLQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SF9QIK Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KSDKSX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7JIS22 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4RTXJ7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FHNVOR Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1564WG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GGZB1L Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3SUJ23 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8V5SEV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WMT23J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BNVST7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CQUMCM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L6WUR6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FWCHOB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6JMUTZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8NJFF7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-V40D8N Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7H5YYV Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AASDLD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-S9KN8U Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ON6SHY Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FYW3FF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W68C66 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JG3DC8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YXZFWB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-C3QKHS Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U3TRWX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2PS6G1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3RGGBM Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T8AA57 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YDYLJH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5SV8EB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4VYS4O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-R2MD8B Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-SWC51O Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YPKJWF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-31H1BX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L6DVJQ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NFX5UZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-THTT9F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T7RSTT Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YU870S Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-F0VT42 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-KLWJSX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DH9YI7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-GPD14G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1S9TYI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-7FUHFI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JT72JO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U5RVH9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EEWWQ4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-45SS23 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-YEKK2E Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-2S4QI4 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-L0TK6E Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-38QAAN Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-883S5A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Z0KF9Z Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-N07DGJ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-B8LKUW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1V6CR1 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-NSPKPD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-D9SW7A Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-LI42K3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OBZI76 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ZOYRZX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-G11OBI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-RNZWLE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FFH55M Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-MPIBLG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-U3N2KA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-28XF5J Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BSSSQL Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-Q27B1D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-V2G5E0 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-AK97PZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-OB83V9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-EWJOFX Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-HTOA42 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-6JKJPB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-T8X8TP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-W0WZ8X Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-4FFP8K Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8BC4TH Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BV0MW8 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FDS5K6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-666F1G Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-8237O2 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JE0GJU Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-DTD9YP Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-C4IFOG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-16G5IO Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-FJJPY5 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-JGKEYW Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IX5NQ3 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-BGLZ6F Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-5PZCT9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-UHP7PD Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-WD4HWE Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-58OZ6D Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-1G7CZ7 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-IGTKVZ Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-CQN0FF Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-860JFX Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-2SAJF8 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-EIQXFM Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-LOLUZ4 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-3VXER5 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-KWY9I0 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-6QUG6P Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-9FGLUB Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-8GS4CW Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-XDR765 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-MLZB57 Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-TU1PTY Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-645JYO Childhood B acute lymphoblastic leukemia 2A70 Cellosaurus C9140 TPD-FZU6JQ Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-X74G3T Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-BOY65K Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-CXR516 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-2LA86T Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-XYL4L5 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-KXITQY Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-ZZN4BE Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-KKZOW0 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-GFA97Y Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-EH2I6I Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-PTSXGR Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-UVUWNJ Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-6OVBDR Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-4879XC Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-JYK5KB Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-6RC7TJ Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-Z68HVD Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-5WWEEV Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-8VZ8W0 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-X46UUY Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-YC7P0P Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-3QR5A8 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-B9SZSM Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-XSRCBA Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-4UVSI4 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-V2CC7W Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-PJZAU4 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-BWDB5O Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-9KSXH2 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-GPD14G Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-1S9TYI Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-JT72JO Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-U5RVH9 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-EEWWQ4 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-45SS23 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-YEKK2E Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-2S4QI4 Pancreatic undifferentiated carcinoma 2C10.Y Cellosaurus C5722 TPD-L1V5DV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SWPS43 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5SZSVH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-8593VO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7LAMDQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FSVU4U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1YB1T2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UUZJGB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-02T8GS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FMYXWD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RC4X8R Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9KSJOO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BJQZNS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YHCB4I Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OYQZKN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K8TWVD Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6JFMDE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FG36HB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-U70EMW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-FML7OH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-CAOCPJ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LEGRI0 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SW3RAO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-J1Q5S9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5LJA64 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BMRH9K Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9R3NRH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GIDZ4D Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-NOYNEM Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-GEAUXG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-F24N3W Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-755WVN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P8T0CR Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1PR6RP Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QOS1Y0 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-8RN0AH Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6ZGPA9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-E4OKCE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-MW73HF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JJMCXR Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QHJZ18 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-OP297L Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PCDZE8 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7637WG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-S2HG5H Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YQB7BA Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZVYQ6F Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-813O3U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-WU3QVP Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-W47W8N Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-N94K47 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-UKCB15 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Q39D2H Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-NJ6R5X Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DTEATC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-TIZ4EY Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-CXOE4M Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P4ND6Y Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-W5B2SX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P19EWV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-VX04MV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-MR18OE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-9OJC87 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-VUKXMX Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-NADQH7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-SL7PNU Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-TV5IYC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7VB9OZ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LLPPHI Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-MRMGAT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-AKUKF6 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-EGMJ13 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-7VH4DQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BJKQZT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QCO464 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-MI4ON4 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Z3POVO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-48SO6Q Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ZK6R5J Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6HC15X Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YP61TF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0EJTIQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1CWV99 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-49RS5U Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QZVKOR Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YBSLLS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-T2I2VG Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YFG1DF Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-H942ZA Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-DRKO2J Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-MOBLER Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P7CC4H Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XS1VMU Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-HXESI2 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-TVYMNB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-H7SEI9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-U935PN Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-52G0AS Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2RDVSR Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-4NZ0F6 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K1D495 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-F9CZS1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-O3MDOK Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-6TLI6A Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-B41YJ7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-711PT4 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-93Q8WO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-ACJ036 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-P8KLIE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-0850V7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-IZ0AWL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-2SFQA1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-USADBW Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RRP67V Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-614UDB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-EN3MN1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-R98EM7 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Z7UVBO Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-YXBZC5 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-QEREW6 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-JGSUPV Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-12S75X Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-PFOF24 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RCK5YP Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-5QTLOL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-K4N2W9 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-XZL05Q Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-M02KOL Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-1XZRUE Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-X8ANQB Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-RQWTMA Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-8Q8TTT Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-L4QZWQ Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-WWDGBC Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-LL1289 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-BN5ID1 Gastric adenocarcinoma 2B72.0 Cellosaurus C4004 TPD-Y5MR4E Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HDR8DR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9ROWSY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0JIF10 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-AJU5HD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-P68ZDC Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LWEP3Q Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QHYM7Q Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8YPO9C Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UA4LNK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-261DWQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-A3EJ8F Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UEBV5L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z9FFEZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q0R2ZC Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VVPEWF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1TS0NP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-XEEYBI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3VPEXG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q7HW45 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q24CCD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4EZYIA Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UGWULZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VF0I1E Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5BBMDT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9FFMGU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-86DZC3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZC9RJX Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z7LMA1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IYQZTE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-YNYH3W Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DKJ4PJ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-XCTCV9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BPCEXQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ASU6WY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9HYF0L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9M4EVY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QM9IFR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1ZW5LF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-R0UV2X Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SOE3UI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZRRDQV Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CPBZ6R Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HPAVZI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-MDYB3J Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZY6CB7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7POHLJ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-K2A11O Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q5I9GE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4PHSFY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JGJ18X Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NXTZ5K Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1Z1KFC Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-A3R1OB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-MGZU1G Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BJ8JQS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-L5CKTA Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-L6RH6W Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ILH1H2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3CH8Q6 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-61J06P Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-YOPMZW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6NNA5P Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-YJ0K0L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BNSMZR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UM92S9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BSDGZZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EIAYD0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-TKN4C1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q2N9NM Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ATN7U8 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-C1TA2E Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WQCYQN Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1F4CUS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-U1GRC1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q1D03S Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3I21CD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0JUP4L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-S5T74N Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-648XEH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CA5S74 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-PMLPXL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FMSJUH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8EX2O2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8PN5C6 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SGUJ4P Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-MIUKLQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ICRUBE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-B97PN5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VQSF6Z Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QBM23F Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7CFULQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-ZQJZHB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-28EZ7W Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-K99G9L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WDQ5LU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-W5MKVB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7F8LET Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1FE4SQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-775S35 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8CTGRT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QEDN3X Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VNMGHY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5BB8TU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-AC6NGF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-331ZPA Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6JQR97 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-B88XVF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z6HVHH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UIKWNL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CNDYFL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0QZP2F Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WKOJAL Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-P60Q7W Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0FKNQX Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7RLEZE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Z5VSAE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-0P3G9G Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-X0EIM0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-W9L5ZI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SXDGHZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WYYCTP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2B1H0S Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UH234B Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-O1VKQP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-7XGCJQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HY1CA2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JMGZ0H Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-XDOO1I Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3ABZG4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-79HGDO Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2LTC5K Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1F7S3W Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-AI43N9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WC0GTG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EIJ2D7 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-93L5UZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-PIK6IT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CGQSK1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5Z7KUT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-D96VDK Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-UT5E5Q Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-668G5I Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EJ25SZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IUALFP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-S7LY81 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EP0AF4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3FY2BE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LWMNJB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JSSCIS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VAI5F5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-A6IDLN Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-92KFFB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-25EUOR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DF6JT3 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-23MVEW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2UIEQ6 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-HOOSCB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BHZ2L5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-R94K21 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-H6JO63 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CAE44E Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-GE80LT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-C7XQ6O Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EQHNIO Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2TCP1F Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8NUE7X Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FRY1MT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-T4EVHY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-FL20ZH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-RYPV9T Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VOSF8R Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2XE3QX Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3A74YZ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1FQJ6L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-SPP94V Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-S5HTQQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1D2ELF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6WKRZC Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CPFXWG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-D9OJIS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-XRHTSQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EOL5BI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8IIO95 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OFAIH5 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JMNCLG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DOGJ1O Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-GOGQQ6 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4V0BZR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WQ99V4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JWQOI4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8F4Y0G Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9YX9V9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-5Q1MKT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OVD6IG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IANANS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-VE74ZR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-EAJUJA Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-NUOUQ2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-KVQXDU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OAXDJU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6E08RN Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DEAYNW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-CG7KXQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-17C4OW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-GOSO2T Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-4713ZU Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Y0ZLJN Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-GS7WPR Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-U4JWQH Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-2YUTN9 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JXRRIS Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-BZZ8IQ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Q0DKYW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DNSYE4 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WTBIRT Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-U023BW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QG37PF Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1DTX9E Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-6A98IE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-1X80OI Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-JR5VLP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-65AJ2R Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-OU1BKC Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-P429Z8 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-9RLR2B Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QTDOTG Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-16CLT8 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Y798LW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-IKUWQ0 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-THHD7V Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-QFK67L Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DPFGZD Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-59VEBW Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-8HOEB1 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-78JMRB Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-3W14WY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LQ4P76 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-X272KJ Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-DSSYWE Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-W5CC9K Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-WMM0F2 Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-LQRHPP Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-Y4KSIY Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-TX9RJA Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-AVN0IQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EZV37J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q50N2Y Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G3XSNE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GUOPPU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6R8XJM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MHZGNV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-USFLU5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BNX6T3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T31ZUP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MZDD5P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OBDLJ9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-36YRCV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CSCL1U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F2VJFT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-496KYD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-06YIYX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NUI2AX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EJW325 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-57K0OM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IQJU45 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1G1UTL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TAUSV3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-P0IK1B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UQ05UU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-E82NIN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Y1XEVO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GKTUWA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T5SQCV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4RSTUN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-31G2CR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3HY3RS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-L71FY2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FMQYKH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ERYDAS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OKJ3HM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5DX6YE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ST8R51 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SM98S5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-L1HHGZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-80IQYW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-O9M9DG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G7FYC8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CP8MPC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9OOJ9Y Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NVA4W1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LPZMVP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MFGJKR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-R0CNVU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-C13441 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3TU1DS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DSKQ27 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8FYERZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZK9QDG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HIHATZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1VEG8D Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T4TUNA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PJR1TF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M6EZQA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z9BWZG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UNVRD0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1TF9CY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S35TUN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RQFBGE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DAO2ZX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RV2LKS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9MJEBD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5C2SIK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0OB1I4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JYBU0U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AA160M Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SI5XM4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NFLBEC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AYM85G Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7NXWDO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LD3QOP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UM760P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DFF77Q Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8NVLOJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UZ1LS4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0JHHXT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-X887T6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JV1IM8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZWVDE0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q8T0BG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-68K3OE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QKBY6C Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TB597B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9OH9EW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FD034M Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A41QE7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SZ8HMJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4CXI0B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q1MVTR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XXLZ1K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TAR0FA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EELFRK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-21W490 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SSJ5RF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-42KVOQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NAL1JV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-POZB1J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CIB77K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EBBQWJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ARJRFT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5Y8MX9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D5I8NM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2M5ERT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CDE52I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NH0CAA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NZG9G2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DA1R1N Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A0PVDD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z9W8OM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JPJTBM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VCR8KN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8QMI5F Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W0VFEV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-H1EDOQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VLCM8I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M2LVXD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K8V2FL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SDXCQC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KV8VOJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7XUR3Y Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZGH71J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9QHGOZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QYW5SN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-182MK7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PFDGKF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z5T8RY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-X27M5L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JF2ZC3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D16PSV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VI9J0P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-55UCEU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0IICFL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PKZFIH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WJXQEM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-61CT4M Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8MULYI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RBEFTY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BWQ25F Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IHDCLC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YGCZ3V Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KL7OZU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EUQDOZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2EIIVK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TSU77L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BN8UBI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T5QYNN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LGXSZ0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PC1DJP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M65WMR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1Z9YVZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FW6SQ3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BPGPPK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6ZB45Z Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JIPGDU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4I2NWY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HRX4LQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PUQI7G Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SUYSV1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-X8JJ19 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6N79GG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OYIUTC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YR8YVA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LQJCXE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-97Q67F Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-E73UG1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1OV8QZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BCEBG6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SKC5VA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XP13T0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WEEL4V Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UEBON4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MFTHZI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D7UVST Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HAN9JK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HN0UTL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LG6UWZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5COJ8O Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BNCXZ7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-39VDPE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UA8UTG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3ZLYF9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-736TPG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KVX6WQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ICWOIE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TPFRJ3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JA9C4O Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TYP0YV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-O27VFZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NMWZOG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-80XO4K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YBQ7ZM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-59VO3R Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KKT1QX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FQX8HG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9PTM3U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-78S72J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JMO65T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-H66EBD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1X0RKD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WPRLB1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MHN17X Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UNJOZQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DFJV68 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7RY16W Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4YYT7E Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-353XLM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3DCFD7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FI523I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-254HA4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G4SKXM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XOMMCV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QT6NKC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PVGUQX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DAHNJW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8F9WF1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2S82OT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F5GWLO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W2L1OK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q9B173 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J8WA8I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AOIRL6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-USYXFJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HASP97 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-62MMYS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F0ZQYD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IHFYNB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S3F2L3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RAVDPB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HIHBMD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LP92YP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TV97VM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8P2M5W Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GFON3V Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EV3TM0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HHDSRW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-34KYQW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OW6OXK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QPIM20 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QX9BT6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7VOCD9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LEA0KR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HWUBLE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DM5SV4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KASHYW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9YOJ2T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7CBWVK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-92LXPC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OKFF82 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PP2NPL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WMCCXN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RA3WOK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JQHGJL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OUYASE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FR4KXG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A0V5WP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PP8X6U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UDDWQF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0IOQB0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KT1ESX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4UOEH3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4ER6PS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SVHSFF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W9QKJA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YHA4YO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MZX5FM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CCL03L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-47HZSB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G06XL5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GKVHOR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M23AEW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZD09I1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0QHCFM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QKNC7B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HBKO7K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-E2Y5FM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D3HSBF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5MAFCS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F4LNUC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YUH2DR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A8L8MT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CR1WEV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9YU0WS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KQLUV9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MUIJCT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-05ZWX9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-C851LE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8DJ6W7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K79F5F Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B625BK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-14T5B5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OUKJIH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FVD80Q Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DUF8XV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZXHV9W Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CQH73R Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GBF5D9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BIKNQS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CA9QXP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-32EOCM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5V0YPR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-L1JMRE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RUE0G8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MDWUOE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ANF8V6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NOT6RZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5LMDFC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AXLEJ0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LJADVL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CVW3RT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SBCRCW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I00L7W Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0SEAZ8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z2KLQX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XMKN9P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CEA3VR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RH2FFM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5ZHWMA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4HQOZ7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OL88PQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PBGLY3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XPPPKT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4N5UXP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9K6WI9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZNFVW9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6ZMGPZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4QFLY5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W5RCZ5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W0OT8W Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6K2OID Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J26IKL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-94LT5I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2F9YXK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4DXDAM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T43D00 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JB3YBQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UE2OR8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J2G2YR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QP51YF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LPQLKF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OKXSYU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9KBQKA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EW75SA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VXA7QZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2ECBND Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8RWEGZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-71OM4I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TXEPMK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D5IBFV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LOJ8C9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9TRM8L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Y9IE4H Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2YP6AV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0UYHKY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G4ZIZR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GGVVXI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0QFCJN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LDDV8L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-V7QPJJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FM08J6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KML6XM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-28LZ47 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z4QA41 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UT3PQI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZTG3VN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UGYR3S Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OCU7C6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J6TITQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-INNLAO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4TTNJE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SISSOR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K8HYMW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4VAYS9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4580MD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ONKODU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YQNJKT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1W68FA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JOWMCX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XG7SF9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CITZS0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HMU8K7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6AYEJE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5SIPB8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9YZC5T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-81ZCF5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BEEHKW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1PR60T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-37W6GD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9WQFUH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YUEMGD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B7NNI2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9WLBF2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-64K3VI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S1MIQO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VVOHRN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6XN806 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TW13WQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UI83BR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CVXLW4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KQJYLA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OR7ANC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4V6Z8L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CX636V Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MUWF2E Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q051WV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1XIAMG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HSYQJM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HZP6ZY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OE1WDN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T2N3Z4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F74NM9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NTSX7X Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CJFD34 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZBSP3H Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KM3814 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-54IDVT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JR2JPX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WD25KP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XPLIIZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NWCQPZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9CJSXV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IZS3F2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6WS2HR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QI8LI4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZLJ7NL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PS6VW6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NOAWTZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8YDCA9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3XYTHL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AWM3MM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2738IY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-N2TRP6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0ZJHPW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TGGO0Q Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I26UVS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YOO8TL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RTD7I7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-16WE0P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FO3BYC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5GARR6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-U9U6P1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0JHJO3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2DTRFT Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IQYO9K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S2RHSJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KF63TX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PF6L2E Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4574L1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9S75AH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z5B4SA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AAAGPM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S4C56X Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4DSEVY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-EXDVTJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J4GB0E Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3VFUM5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IEI4CP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-H46PMA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IEO9OB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XRX29S Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3BYJKH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YTN7XU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HQQ1OW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I5I6ML Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5NQ0HR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-70NLHH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B13D9P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8PZ4BY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A7W81J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NG8FHL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z4LY26 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UIAN0C Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YSYKTB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8D8474 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3W2HIA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K84OTB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5K156I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5DF9HK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5TKQAM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MXXSS0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GC0KCE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-12CPAZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8X3AOW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OADQJM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I6ZI5F Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UWAMM4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-P96VFV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DBZUKE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K3T3M7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-A2PA8N Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z91JST Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SIYMQK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-D7CR5P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DYZDBD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1D64R9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I1CLO5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0XGXGD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0SPC34 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WJG4XA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VSM2ZA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-T6VAYX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9MDN3M Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HTOE4A Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RSY1ZG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8QX0HD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MN0CG5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RQZLCF Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-34IDI9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4CU130 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CZCKQE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-L5SAJD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CR19GY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PND18P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2PHCI0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9ZOM0M Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MDHIG0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6TLNFV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PN28KY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BQIPD0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-67UXU2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QI1202 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Y8VLYY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BJCB8I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HSEK6K Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GWFS7E Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TNHFG7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-E4WV5Q Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7AB86Z Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-X2ENH2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1JBG51 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-DJLVIN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HMFP4U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OMMEGW Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FZTDZL Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RXTXG7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KX4A7I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MIV4Y4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JL0YEH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5R3K29 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-09HEC7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FBRZ0L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0RDGHA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B7B7AO Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PSEQHH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Z6WNLN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-R3SW4Y Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0VPTW0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TJWSGB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HLSGM2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-C05V63 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-UJQ3E3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IQ63MI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1R7V48 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B60A55 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7AUB9I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GYP0U7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2W8NRK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3Y0GMM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KF9V38 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-K5SZTK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B52SP7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JYGYAV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-O6FSG3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZJAST4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HEINHJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J32W5G Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PEZEHY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TBH0V9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-22CZI1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IORT80 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AWVJT7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AZDLJY Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W3K53V Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CS6068 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-31MSWP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PLX1P2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WXVN72 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B0K4S1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PS1RE2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-78BRR2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q77D0T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M4EOEU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2JYEBQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LUPK2L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WEJ29J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-48G27T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-PAK2O0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6B9Q68 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NDZ0WH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GCUE4P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-W9IWG3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G8GRLH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9N4689 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-U2FN9Y Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4JD6VJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2BAV7P Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WQGS3J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F4UCUJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6AV78L Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QWEF2N Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1OPKQC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-GHHGQG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZJBPZ1 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JEJ5K8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-R1GH77 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-QI5TYA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-4MGRSN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-C1EGYJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VYYLKJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KMFET7 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-S1IL49 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q8B3LQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-V2AKND Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-B2ZQKE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-I8PQD5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CR0WM3 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JIF1XD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-WDTGCE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FVM5ZH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-H06MZ9 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HL860C Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0ICRYH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YEJIZV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-6M0QJ5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IXW61J Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-JG9CSH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8M4IP5 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-KTVPNP Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CTXL8S Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HPFFV6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-476Z49 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-J2CJZE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OQBKI6 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-M83JFD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SXKPUQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VTG3Q8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ASDOOC Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8Z052B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-68ETPX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-3VXAGD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-0DFZNS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2T32YJ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-NPX2DN Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F4IJME Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5IKGQK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZZP56Q Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CSOKNQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LA9X60 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-G25NHE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-5QCOGG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9NPOXV Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YDC7C4 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HFV5ED Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-BJRBA8 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8LL7YD Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RIO69B Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-Q9GJID Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-9V2FTA Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LY8S6I Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-C39Q59 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-FR0V2A Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-VH99FS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-MQK9UG Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-09BRXM Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-F9IRKQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TIO2IQ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-HAL5FZ Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-IEL8Y0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-XQ0G76 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-X4EOKX Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7I0ZDB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-2ZNJLR Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-TT5YLU Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-552OGS Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-SQPVON Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-LYB14X Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-8IWSDK Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OS4CSI Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ZJ66CE Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-OQL8WB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-ETES22 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CMJPNB Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AK3I39 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-RMD1J0 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-1U4Q04 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-CORC6U Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-YIAEEH Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AVN0IQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EZV37J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q50N2Y Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G3XSNE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GUOPPU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6R8XJM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MHZGNV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-USFLU5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BNX6T3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T31ZUP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MZDD5P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OBDLJ9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-36YRCV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CSCL1U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F2VJFT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-496KYD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-06YIYX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NUI2AX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EJW325 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-57K0OM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IQJU45 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1G1UTL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TAUSV3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-P0IK1B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UQ05UU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-E82NIN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Y1XEVO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GKTUWA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T5SQCV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4RSTUN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-31G2CR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3HY3RS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-L71FY2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FMQYKH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ERYDAS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OKJ3HM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5DX6YE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ST8R51 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SM98S5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-L1HHGZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-80IQYW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-O9M9DG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G7FYC8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CP8MPC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9OOJ9Y Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NVA4W1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LPZMVP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MFGJKR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-R0CNVU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-C13441 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3TU1DS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DSKQ27 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8FYERZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZK9QDG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HIHATZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1VEG8D Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T4TUNA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PJR1TF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M6EZQA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z9BWZG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UNVRD0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1TF9CY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S35TUN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RQFBGE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DAO2ZX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RV2LKS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9MJEBD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5C2SIK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0OB1I4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JYBU0U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AA160M Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SI5XM4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NFLBEC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AYM85G Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7NXWDO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LD3QOP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UM760P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DFF77Q Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8NVLOJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UZ1LS4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0JHHXT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-X887T6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JV1IM8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZWVDE0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q8T0BG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-68K3OE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QKBY6C Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TB597B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9OH9EW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FD034M Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A41QE7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SZ8HMJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4CXI0B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q1MVTR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XXLZ1K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TAR0FA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EELFRK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-21W490 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SSJ5RF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-42KVOQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NAL1JV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-POZB1J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CIB77K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EBBQWJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ARJRFT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5Y8MX9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D5I8NM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2M5ERT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CDE52I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NH0CAA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NZG9G2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DA1R1N Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A0PVDD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z9W8OM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JPJTBM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VCR8KN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8QMI5F Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W0VFEV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-H1EDOQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VLCM8I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M2LVXD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K8V2FL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SDXCQC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KV8VOJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7XUR3Y Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZGH71J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9QHGOZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QYW5SN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-182MK7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PFDGKF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z5T8RY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-X27M5L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JF2ZC3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D16PSV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VI9J0P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-55UCEU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0IICFL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PKZFIH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WJXQEM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-61CT4M Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8MULYI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RBEFTY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BWQ25F Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IHDCLC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YGCZ3V Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KL7OZU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EUQDOZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2EIIVK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TSU77L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BN8UBI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T5QYNN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LGXSZ0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PC1DJP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M65WMR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1Z9YVZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FW6SQ3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BPGPPK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6ZB45Z Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JIPGDU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4I2NWY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HRX4LQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PUQI7G Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SUYSV1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-X8JJ19 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6N79GG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OYIUTC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YR8YVA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LQJCXE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-97Q67F Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-E73UG1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1OV8QZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BCEBG6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SKC5VA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XP13T0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WEEL4V Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UEBON4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MFTHZI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D7UVST Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HAN9JK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HN0UTL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LG6UWZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5COJ8O Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BNCXZ7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-39VDPE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UA8UTG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3ZLYF9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-736TPG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KVX6WQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ICWOIE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TPFRJ3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JA9C4O Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TYP0YV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-O27VFZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NMWZOG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-80XO4K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YBQ7ZM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-59VO3R Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KKT1QX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FQX8HG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9PTM3U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-78S72J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JMO65T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-H66EBD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1X0RKD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WPRLB1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MHN17X Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UNJOZQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DFJV68 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7RY16W Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4YYT7E Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-353XLM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3DCFD7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FI523I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-254HA4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G4SKXM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XOMMCV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QT6NKC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PVGUQX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DAHNJW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8F9WF1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2S82OT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F5GWLO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W2L1OK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q9B173 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J8WA8I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AOIRL6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-USYXFJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HASP97 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-62MMYS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F0ZQYD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IHFYNB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S3F2L3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RAVDPB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HIHBMD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LP92YP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TV97VM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8P2M5W Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GFON3V Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EV3TM0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HHDSRW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-34KYQW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OW6OXK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QPIM20 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QX9BT6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7VOCD9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LEA0KR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HWUBLE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DM5SV4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KASHYW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9YOJ2T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7CBWVK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-92LXPC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OKFF82 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PP2NPL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WMCCXN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RA3WOK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JQHGJL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OUYASE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FR4KXG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A0V5WP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PP8X6U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UDDWQF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0IOQB0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KT1ESX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4UOEH3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4ER6PS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SVHSFF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W9QKJA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YHA4YO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MZX5FM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CCL03L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-47HZSB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G06XL5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GKVHOR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M23AEW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZD09I1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0QHCFM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QKNC7B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HBKO7K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-E2Y5FM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D3HSBF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5MAFCS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F4LNUC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YUH2DR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A8L8MT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CR1WEV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9YU0WS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KQLUV9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MUIJCT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-05ZWX9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-C851LE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8DJ6W7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K79F5F Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B625BK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-14T5B5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OUKJIH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FVD80Q Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DUF8XV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZXHV9W Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CQH73R Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GBF5D9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BIKNQS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CA9QXP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-32EOCM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5V0YPR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-L1JMRE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RUE0G8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MDWUOE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ANF8V6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NOT6RZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5LMDFC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AXLEJ0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LJADVL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CVW3RT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SBCRCW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I00L7W Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0SEAZ8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z2KLQX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XMKN9P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CEA3VR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RH2FFM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5ZHWMA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4HQOZ7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OL88PQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PBGLY3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XPPPKT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4N5UXP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9K6WI9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZNFVW9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6ZMGPZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4QFLY5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W5RCZ5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W0OT8W Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6K2OID Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J26IKL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-94LT5I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2F9YXK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4DXDAM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T43D00 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JB3YBQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UE2OR8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J2G2YR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QP51YF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LPQLKF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OKXSYU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9KBQKA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EW75SA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VXA7QZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2ECBND Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8RWEGZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-71OM4I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TXEPMK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D5IBFV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LOJ8C9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9TRM8L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Y9IE4H Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2YP6AV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0UYHKY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G4ZIZR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GGVVXI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0QFCJN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LDDV8L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-V7QPJJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FM08J6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KML6XM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-28LZ47 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z4QA41 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UT3PQI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZTG3VN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UGYR3S Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OCU7C6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J6TITQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-INNLAO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4TTNJE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SISSOR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K8HYMW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4VAYS9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4580MD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ONKODU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YQNJKT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1W68FA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JOWMCX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XG7SF9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CITZS0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HMU8K7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6AYEJE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5SIPB8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9YZC5T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-81ZCF5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BEEHKW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1PR60T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-37W6GD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9WQFUH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YUEMGD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B7NNI2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9WLBF2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-64K3VI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S1MIQO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VVOHRN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6XN806 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TW13WQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UI83BR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CVXLW4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KQJYLA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OR7ANC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4V6Z8L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CX636V Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MUWF2E Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q051WV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1XIAMG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HSYQJM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HZP6ZY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OE1WDN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T2N3Z4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F74NM9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NTSX7X Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CJFD34 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZBSP3H Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KM3814 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-54IDVT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JR2JPX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WD25KP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XPLIIZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NWCQPZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9CJSXV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IZS3F2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6WS2HR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QI8LI4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZLJ7NL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PS6VW6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NOAWTZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8YDCA9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3XYTHL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AWM3MM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2738IY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-N2TRP6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0ZJHPW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TGGO0Q Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I26UVS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YOO8TL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RTD7I7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-16WE0P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FO3BYC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5GARR6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-U9U6P1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0JHJO3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2DTRFT Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IQYO9K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S2RHSJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KF63TX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PF6L2E Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4574L1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9S75AH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z5B4SA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AAAGPM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S4C56X Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4DSEVY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-EXDVTJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J4GB0E Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3VFUM5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IEI4CP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-H46PMA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IEO9OB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XRX29S Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3BYJKH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YTN7XU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HQQ1OW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I5I6ML Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5NQ0HR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-70NLHH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B13D9P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8PZ4BY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A7W81J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NG8FHL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z4LY26 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UIAN0C Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YSYKTB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8D8474 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3W2HIA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K84OTB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5K156I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5DF9HK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5TKQAM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MXXSS0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GC0KCE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-12CPAZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8X3AOW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OADQJM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I6ZI5F Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UWAMM4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-P96VFV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DBZUKE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K3T3M7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-A2PA8N Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z91JST Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SIYMQK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-D7CR5P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DYZDBD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1D64R9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I1CLO5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0XGXGD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0SPC34 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WJG4XA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VSM2ZA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-T6VAYX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9MDN3M Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HTOE4A Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RSY1ZG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8QX0HD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MN0CG5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RQZLCF Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-34IDI9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4CU130 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CZCKQE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-L5SAJD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CR19GY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PND18P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2PHCI0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9ZOM0M Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MDHIG0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6TLNFV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PN28KY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BQIPD0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-67UXU2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QI1202 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Y8VLYY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BJCB8I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HSEK6K Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GWFS7E Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TNHFG7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-E4WV5Q Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7AB86Z Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-X2ENH2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1JBG51 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-DJLVIN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HMFP4U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OMMEGW Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FZTDZL Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RXTXG7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KX4A7I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MIV4Y4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JL0YEH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5R3K29 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-09HEC7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FBRZ0L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0RDGHA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B7B7AO Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PSEQHH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Z6WNLN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-R3SW4Y Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0VPTW0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TJWSGB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HLSGM2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-C05V63 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-UJQ3E3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IQ63MI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1R7V48 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B60A55 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7AUB9I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GYP0U7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2W8NRK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3Y0GMM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KF9V38 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-K5SZTK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B52SP7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JYGYAV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-O6FSG3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZJAST4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HEINHJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J32W5G Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PEZEHY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TBH0V9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-22CZI1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IORT80 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AWVJT7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AZDLJY Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W3K53V Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CS6068 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-31MSWP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PLX1P2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WXVN72 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B0K4S1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PS1RE2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-78BRR2 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q77D0T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M4EOEU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2JYEBQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LUPK2L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WEJ29J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-48G27T Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-PAK2O0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6B9Q68 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NDZ0WH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GCUE4P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-W9IWG3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G8GRLH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9N4689 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-U2FN9Y Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4JD6VJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2BAV7P Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WQGS3J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F4UCUJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6AV78L Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QWEF2N Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1OPKQC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-GHHGQG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZJBPZ1 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JEJ5K8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-R1GH77 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-QI5TYA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-4MGRSN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-C1EGYJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VYYLKJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KMFET7 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-S1IL49 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q8B3LQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-V2AKND Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-B2ZQKE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-I8PQD5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CR0WM3 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JIF1XD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-WDTGCE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FVM5ZH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-H06MZ9 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HL860C Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0ICRYH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YEJIZV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-6M0QJ5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IXW61J Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-JG9CSH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8M4IP5 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-KTVPNP Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CTXL8S Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HPFFV6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-476Z49 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-J2CJZE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OQBKI6 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-M83JFD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SXKPUQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VTG3Q8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ASDOOC Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8Z052B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-68ETPX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-3VXAGD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-0DFZNS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2T32YJ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-NPX2DN Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F4IJME Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5IKGQK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZZP56Q Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CSOKNQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LA9X60 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-G25NHE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-5QCOGG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9NPOXV Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YDC7C4 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HFV5ED Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-BJRBA8 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8LL7YD Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RIO69B Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-Q9GJID Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-9V2FTA Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LY8S6I Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-C39Q59 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-FR0V2A Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-VH99FS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-MQK9UG Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-09BRXM Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-F9IRKQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TIO2IQ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-HAL5FZ Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IEL8Y0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-XQ0G76 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-X4EOKX Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-7I0ZDB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-2ZNJLR Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-TT5YLU Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-552OGS Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-SQPVON Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-LYB14X Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-8IWSDK Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OS4CSI Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ZJ66CE Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-OQL8WB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-ETES22 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CMJPNB Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-AK3I39 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-RMD1J0 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-1U4Q04 Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-CORC6U Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-YIAEEH Myelodysplastic syndrome 2A3Z Cellosaurus C3247 TPD-IGDBCE Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-CXNOC0 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-B9CGEO Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-VY2YRU Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-NRWH8E Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-26585G Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-Q1FSPC Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-8D8KF9 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-X774TC Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-6E4V3J Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-3HGBX2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KW5UMU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3V2A7F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RXHUV7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VUQCMQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YHP8GU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A7EE0R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7NR9EC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-V3BOVZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RWAHFB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OQS5KS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TB7D6I Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9L90O5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PO1F7D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-41BB04 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QK6FHZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M6CR00 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CQZBY0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WPFH4C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-N3YPBR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2Z7CNI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KBHUF3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2K4LU7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E9GSXB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6S5H0H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-H7DU5O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZXT98S Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1AD6D4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SHU7VC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EX00XO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GIQPTN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YVWFR5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AC9J21 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UVURQL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q9SI7Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E9U5CH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QSKL4U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KMZALF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0NABRV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-X26GCW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HLMPXJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HZ96OL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XKFEOH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7PU1OE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-COM23J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WBXK2Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YDLWEP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VAPV5W Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MTI97B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7IUF3T Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6G1Z4N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5R0YMU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3XX5NU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-93R69I Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8S97B0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EESWEK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1P2JB5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OKSQWW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EG11GT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-99T8TR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8SN5HE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P18CC8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G4MPM9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3MO1DT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TUX5I8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P1375F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WZJIYM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3XSV65 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WD14LI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CB73YM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MM561R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KRHDMS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FN50XT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-005QZQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AE0M3J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JHBSGM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-N4VUA6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NIW5JA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W0BKIR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-K1WZLR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ONSH3L Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TPJEYR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7247WU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-645C8U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7SULNY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Z9XSCM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2RZIVN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-H81UNK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5IIVAN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1GFLU0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8EUASZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IDZ4L1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VIF5JE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D6VBT9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W3PGEH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LWEP3Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QHYM7Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8YPO9C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UA4LNK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-261DWQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A3EJ8F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6LD0I1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UEBV5L Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Z9FFEZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q0R2ZC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VVPEWF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1TS0NP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XEEYBI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3VPEXG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q7HW45 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q24CCD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4EZYIA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UGWULZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VF0I1E Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5BBMDT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9FFMGU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-86DZC3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZC9RJX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Z7LMA1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IYQZTE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YNYH3W Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DKJ4PJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XCTCV9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BPCEXQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ASU6WY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9M4EVY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VCS18D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QM9IFR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1ZW5LF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R0UV2X Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SOE3UI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZRRDQV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CPBZ6R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HPAVZI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MDYB3J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZY6CB7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7POHLJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-K2A11O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q5I9GE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4PHSFY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JGJ18X Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NXTZ5K Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1Z1KFC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A3R1OB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MGZU1G Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BJ8JQS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L5CKTA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L6RH6W Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ILH1H2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3CH8Q6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-61J06P Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YOPMZW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6NNA5P Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YJ0K0L Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BNSMZR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UM92S9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LE5ECE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E1IVF5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G9LRXD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PWUGYO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6FNKEF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PIP7CZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-F2EBIC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CK6NV7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DC273Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NOKBMZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QDPV3V Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5LQZUY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S4RJSY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R8XHGY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NWYELV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TDQ0VT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UT4LTP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q7C68U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3XYN9C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6SVD4J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2N0Q4Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2SFJRW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-V13JB9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E19Y1C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ERAGRA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-38DQMS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BVTURY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D4ZDLS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZN0AX6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MFOOV9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Y9FN39 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9XZON7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1PDRJ3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-H7OH2V Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9B6DM4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-30LQON Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HOXLFN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6M9SJA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WD6P95 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KBMGZ0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7GV0W6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YDT73C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SGW32V Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3538GF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OFA19E Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4M0UHF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4M7M70 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EHCM3B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KVVPTZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MQZZEJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Y3OHUP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VTD25G Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3WGRAG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-U9H2V3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A4S89R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SE5V82 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6TICK0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PUYITD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7Q9V8O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VUU5ZJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UHMGTQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YUPO2H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YHZN6I Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6FNH75 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XW9T2U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R8WDXS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Y2E838 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E7V888 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PQOEZN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LK894A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-51AS8A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B4I5VB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8YJPQG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VT54LB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NPUVBU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B483R0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DULHCD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0BM9RN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4U7KMJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UUDU3V Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A2J34C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KDQZPN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YMUYD4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JTCE60 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6IWRNI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ECN4KZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0PS2X5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UGF1L2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-C9P7CQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R1FIIJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0FCPYO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AEI0XC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LW96MO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-144JMZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9L5A3Q Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-32MBS8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S1G2OE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MK3TY5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-321XEF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M4YOX2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-93BUB0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LJFFE3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NZOIVO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8PON7R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5NQ1PR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-49MQGB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HFIVW3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5M1V3N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VTDE3C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6QL265 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q8C6B2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QDRLHQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-URIK96 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FYTUV5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ESWPR9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6DE47M Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EZAEKG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BVMJYM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UY5LVR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OMVLB1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UIAUDH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-71DGJV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R9RV4A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L76OP4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A3ANKS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3XN9WE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FLIPPC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YYP0NA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M1J15I Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AQ99J8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KGP3YE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QTA3PX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SJVRFO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BLCKHN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WX9QZJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P4IF91 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D3G4BA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EXME68 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8MEOXO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-68OVTN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-14LPQD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NZ51FX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9RZI8D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VP2KT6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CYC76Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D20P7Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1EKCCO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NCCFBE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UW6CCJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8U767N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6315VK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XJZ2O7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-95I4GE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M5ACCX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XXP74O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ER1A4Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EFN6AM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Z8TDDS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-T7463Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W0WAW1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XOJY8A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8DCH6B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TDDBA0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OFTA5Z Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0TGYUC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SGQDH1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-V3O4ZQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ICHLEB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IBZNF1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XHWM6V Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-99NMNA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-73BXUX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3XY5ST Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P4A66B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2ABPE8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q435TX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W52F4J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SJCZH2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PZ083E Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5NQTR6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XBU4JP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZVEZHA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4O9H1N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DQ7X7T Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-URJI7Z Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1QAF5L Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FAFTSA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OX8UPJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QGCA74 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GSWTOG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-494N05 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S3GZIN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FRCWQD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-U5G8NQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1DWCZY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VLNG4C Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8OYVI4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GL5XWQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QT9JGU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PHOZEP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S2DNAO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CNP9K9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9V9IVK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AA7LBE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BDHPAI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JSS38D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EFF0MS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZGOM8T Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0UNDSF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4H2WL4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6CUD44 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-APR68F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CTZ1B6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G7KBHH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CZHIIH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B0ZH7T Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QMHPPX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AL359A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-94154U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8QYT5B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IGAI5N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6LDI7F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-89YHBN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZOH2L9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HQGKOY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LP5NVO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M0BNH8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Y9LFXU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-53BA38 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-N178OI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PKZGAX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VWGFAV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UQCJ6D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5HI5NO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1K7NCS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8JEEFT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8NT8TH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BAX85H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FLNLX2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IY164P Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0O13E0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OZWVSX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WSNV7U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VVLEZQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P1OGAS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-97BT5H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-19LBHB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6B27FL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G8XO19 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LT00QR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RQJAFT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GE6UT1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-T9NKMW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3TMLDN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-U19L9U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9B3UYA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2P9FAR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7WSKKG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RHZNQG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZHBLOB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WFTBAC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E4BV8N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SBJSNU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PEYRV9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5T9RB8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XAG96S Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DCV1UR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-94OKU3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RZVQJF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-64I6K3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZJ7LBW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HW0RA6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EGREEY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YRXZMA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HBU2AJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NYKDPE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HU8H03 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BEPSZI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DPIYL8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VDUQQS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2BQHXL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UMMCE1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L5NC1J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P1INIC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E49KWV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UMHEN9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A66OLQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SF9QIK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KSDKSX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7JIS22 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4RTXJ7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FHNVOR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1564WG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7QOWEZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GGZB1L Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EHX5FY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CUWYDQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3SUJ23 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7LA90M Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8V5SEV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A98YMY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GG8H6N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-22F109 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZPIXDH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VDMO92 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WMT23J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZFZ99R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BNVST7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CQUMCM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L6WUR6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FWCHOB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6JMUTZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8NJFF7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ATBX61 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-V40D8N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7H5YYV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2O7YLO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DGQ8SR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q1UJPB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-AASDLD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1LB4QO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G1RWL0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-91HQAP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6SQ779 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S9KN8U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ON6SHY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FYW3FF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NGZUD1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EC39SU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4AILRZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MZILT4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W68C66 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JG3DC8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A9JVQC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YXZFWB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TNCVLU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IPXL9A Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E4FQ68 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-652ZCD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-Q9YCT3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G5R544 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-THGLP7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GQS18G Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HH5YWW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HE5KOR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UN0QEE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SSQRVX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NCU5O0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HFTVY7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FQ06GO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7437GD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-I810CT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W3DMF5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PK51B0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZMSFSS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L5QVXN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QTGYY6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EA61GY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UWI22M Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-C3QKHS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-U3TRWX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2PS6G1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3RGGBM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-T8AA57 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YDYLJH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5SV8EB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4VYS4O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-R2MD8B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SWC51O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YPKJWF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-31H1BX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L6DVJQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NFX5UZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-THTT9F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-T7RSTT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YU870S Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-F0VT42 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KLWJSX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DH9YI7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0JFZ3T Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MO3N3R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-45B6IB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2098UL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-E1QCWJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EAIADF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5VQYY0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OB3AQP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IYG8I6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MBHNO7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-OUIAFO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7CGXWW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-C2UODY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P50F1B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MEW03I Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RXZKTG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YHGDKG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PDWV7B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4CK2K6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-368GK6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TBL3S5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1PIJS5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PTSMPH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6D90BF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XF9UEE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6THIYS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VFLODS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UIMYSB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TTYD5H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NPU78E Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-89KT64 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GHNOV9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TLRZ12 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZUNETX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-USLYHX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WL2JNS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SRW0D5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-N9U153 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XBMLTT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-P9QHWQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TA8HWR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6KLKKD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JTHQJR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4MLHK6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8487NG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CZDTO0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NJWY7O Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S3JRYC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BJB54Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YS8ULN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B873XM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3ZUES5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DID6LS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DH3OBB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8RF7MR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PHTPKQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W64JLC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LXXUPN Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LTVH73 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D4YGJG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SM79KQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6C1RFE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EXI8LH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5FWC6S Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PI5DLS Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YVR69D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-194EVB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FRHUBF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-48U3EG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0OSIS3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-VCHYJX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-F9YXGZ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-K2HKNI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9GIBXM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1V4B2D Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LYCIOI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-79BPQ6 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GI60ZT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B61EJ1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MSNIOK Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5AAN1B Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-X9UD0F Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SQG3SX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-D5U24J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0P2CNP Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9S05V0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HACZHU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HBCJT7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PSP6UA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RL2H35 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8MZGED Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0CGC8K Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0EU6PY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9TWBZJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PPJWGG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0TN5HA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GU4QGB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B6PPX8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-M76GNX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ABJ33Z Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0W5T9H Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EVK1IA Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RQST5R Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TLUMDB Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DSYX3J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JZ61SX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XJAJX9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-2GD2V1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1XB3XW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PZRY7E Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L1ESQH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-B0ROAG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-56HPIM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GSJ3SV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GSNSQ2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-S1L5SG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CTGEQ2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-L3DB83 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NJLZE2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LUYXO4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-IBREF0 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KODQEU Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WVARXV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-V5R6I9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1R9SII Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BCOMRT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0PMGM2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-41C1NC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FNC886 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7U5ANE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UJ2ARF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WT9J3N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4WIWN8 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0IDNWT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-EPGWED Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-C7BL6K Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XTNTND Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0Z037N Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-8B3P3Y Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-MERMPE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-4A3RX9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WSNTVT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YF0PMV Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LLR5FR Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZDMI29 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1TY9B7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-I92MI5 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TFR030 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1DTE58 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YUSHSO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CFMZ7X Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DFZFTT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-1TO1TW Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-DQ51VL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-A077ZM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-25A18S Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NSIURM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-YWFUJC Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9DQWCO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-H4F1SG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-CUCJJF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BCKJ44 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XXJNZH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QX56Z7 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XB49X9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SD9TC3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-6WDUI3 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-G6D9UH Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-5CPCIX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ZK1CN4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PRIJBJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-RZP9DD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-GEZK4J Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-KQLYQ9 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ATGCGX Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-BJL3PF Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-H60OPY Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-TY8KXT Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-PMF9CG Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-LMNQN4 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3RVP1K Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-WJ7YFJ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-T31S4K Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-X4YPZI Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-QYZF73 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3T37SM Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-JEVKI1 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-7DGT8W Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-FA1TSL Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-SVG845 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-XIB0KO Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-0DOSBE Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-HFDQ6U Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-UV8599 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-9C1CH2 Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-NDVJ5P Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-3T05RQ Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-W19QYD Adult T acute lymphoblastic leukemia 2A71 Cellosaurus C9142 TPD-ILAPM8 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-4F30PR Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-YLX48B Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-94FVN1 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-JP8MDJ Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-XWBHYJ Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-CQYQ3I Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-UATD3B Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-W7KB66 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-0UJOP7 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-J4LCJS Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-OTQZX5 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-2TB6XI Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-CXQXMU Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-37G2A9 Chronic myelogenous leukemia, BCR-ABL1 positive 2A20.0 Cellosaurus C3174 TPD-3HGBX2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YOP33B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MR1TFK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8I7DSU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BD649Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EX4VZ6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-860JFX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2SAJF8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EIQXFM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3VXER5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KWY9I0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6QUG6P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9FGLUB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XDR765 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MLZB57 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TU1PTY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GKTUWA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T5SQCV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4RSTUN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-31G2CR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3HY3RS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L71FY2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FMQYKH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ERYDAS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OKJ3HM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5DX6YE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ST8R51 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SM98S5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L1HHGZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-80IQYW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O9M9DG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G7FYC8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CP8MPC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9OOJ9Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NVA4W1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LPZMVP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MFGJKR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R0CNVU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C13441 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3TU1DS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DSKQ27 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8FYERZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZK9QDG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HIHATZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1VEG8D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T4TUNA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PJR1TF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M6EZQA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z9BWZG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UNVRD0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1TF9CY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S35TUN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RQFBGE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DAO2ZX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RV2LKS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9MJEBD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5C2SIK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0OB1I4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JYBU0U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AA160M Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SI5XM4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NFLBEC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AYM85G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7NXWDO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LD3QOP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UM760P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DFF77Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8NVLOJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UZ1LS4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0JHHXT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X887T6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JV1IM8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZWVDE0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q8T0BG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-68K3OE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QKBY6C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TB597B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9OH9EW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FD034M Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A41QE7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SZ8HMJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4CXI0B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q1MVTR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XXLZ1K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TAR0FA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EELFRK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-21W490 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SSJ5RF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-42KVOQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NAL1JV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-POZB1J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CIB77K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EBBQWJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ARJRFT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5Y8MX9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D5I8NM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2M5ERT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CDE52I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NH0CAA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZG9G2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DA1R1N Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A0PVDD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WQCYQN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1F4CUS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U1GRC1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q1D03S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3I21CD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0JUP4L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S5T74N Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-648XEH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CA5S74 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PMLPXL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FMSJUH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8EX2O2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8PN5C6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SGUJ4P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MIUKLQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ICRUBE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B97PN5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VQSF6Z Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QBM23F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7CFULQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZQJZHB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-28EZ7W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K99G9L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WDQ5LU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W5MKVB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7F8LET Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1FE4SQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-775S35 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8CTGRT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QEDN3X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VNMGHY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5BB8TU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AC6NGF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-331ZPA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6JQR97 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B88XVF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z6HVHH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UIKWNL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CNDYFL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0QZP2F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WKOJAL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-P60Q7W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0FKNQX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7RLEZE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z5VSAE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0P3G9G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X0EIM0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W9L5ZI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NSRPL2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OHJI7D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IC3KHJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1B33Z9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z3CYZE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G87VI6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UA38MJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6FUF7B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QGNFVH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UR5LBI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PU2IB5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z181M2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TJN9QB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5YLYBZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZYH91 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SR4T9C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LO3A9S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-11KEVG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3B25EW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0M4QME Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y13RFL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q6BIJG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GLOG5W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T5P0IR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-N32UR1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MBQ46H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BDFQ0G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7VTYFO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZS72S0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T7A42Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JIEAOI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DNY38I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NO47Z4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DXVRKM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OI0Y4F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3D38V9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KEKXTC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-298GID Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VE69PZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6MP9CP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-V8437G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DDOBJR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D4HKW2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3VRYGW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HO7WLG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DSBLIB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OVM1WJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MVORFI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GFTX4R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9H0AQO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TR6PXN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S6JQX5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-14J3N0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JZ0TT8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RB1YWT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RVJ5YW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WS6FIA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-57IP9L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q0UAXK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YHDAFD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QT1D2S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JTA8NY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z5THTG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZB4KMY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BQSAAJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z9W8OM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JPJTBM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VCR8KN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8QMI5F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W0VFEV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-H1EDOQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VLCM8I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M2LVXD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K8V2FL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SDXCQC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KV8VOJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7XUR3Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZGH71J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9QHGOZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QYW5SN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-182MK7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PFDGKF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z5T8RY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X27M5L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JF2ZC3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D16PSV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VI9J0P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-55UCEU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0IICFL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PKZFIH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WJXQEM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-61CT4M Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8MULYI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RBEFTY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BWQ25F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IHDCLC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YGCZ3V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KL7OZU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EUQDOZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2EIIVK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TSU77L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BN8UBI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T5QYNN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LGXSZ0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PC1DJP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M65WMR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1Z9YVZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FW6SQ3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BPGPPK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6ZB45Z Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JIPGDU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4I2NWY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HRX4LQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PUQI7G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SUYSV1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X8JJ19 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6N79GG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OYIUTC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YR8YVA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LQJCXE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-97Q67F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E73UG1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1OV8QZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BCEBG6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SKC5VA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XP13T0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WEEL4V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UEBON4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MFTHZI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D7UVST Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HAN9JK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HN0UTL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LG6UWZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5COJ8O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BNCXZ7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-39VDPE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UA8UTG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3ZLYF9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-736TPG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KVX6WQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ICWOIE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TPFRJ3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JA9C4O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TYP0YV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O27VFZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NMWZOG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-80XO4K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YBQ7ZM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-59VO3R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KKT1QX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FQX8HG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9PTM3U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-78S72J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JMO65T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-H66EBD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1X0RKD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WPRLB1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MHN17X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UNJOZQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DFJV68 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7RY16W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4YYT7E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-353XLM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3DCFD7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FI523I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-254HA4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G4SKXM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XOMMCV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QT6NKC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PVGUQX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DAHNJW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8F9WF1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2S82OT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F5GWLO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W2L1OK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q9B173 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J8WA8I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AOIRL6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-USYXFJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HASP97 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-62MMYS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F0ZQYD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IHFYNB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S3F2L3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RAVDPB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HIHBMD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LP92YP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TV97VM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8P2M5W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GFON3V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EV3TM0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HHDSRW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-34KYQW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OW6OXK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QPIM20 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QX9BT6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7VOCD9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LEA0KR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HWUBLE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DM5SV4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KASHYW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9YOJ2T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7CBWVK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-92LXPC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OKFF82 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PP2NPL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WMCCXN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RA3WOK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JQHGJL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OUYASE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FR4KXG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A0V5WP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PP8X6U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UDDWQF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0IOQB0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KT1ESX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4UOEH3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4ER6PS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SVHSFF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W9QKJA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YHA4YO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MZX5FM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CCL03L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-47HZSB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G06XL5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GKVHOR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M23AEW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZD09I1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0QHCFM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QKNC7B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HBKO7K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E2Y5FM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D3HSBF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5MAFCS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F4LNUC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YUH2DR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A8L8MT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CR1WEV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9YU0WS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KQLUV9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MUIJCT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-05ZWX9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C851LE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8DJ6W7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K79F5F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B625BK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-14T5B5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OUKJIH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FVD80Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DUF8XV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZXHV9W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CQH73R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GBF5D9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BIKNQS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CA9QXP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-32EOCM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5V0YPR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L1JMRE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RUE0G8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MDWUOE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ANF8V6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NOT6RZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5LMDFC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AXLEJ0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LJADVL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CVW3RT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SBCRCW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-I00L7W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0SEAZ8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z2KLQX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XMKN9P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CEA3VR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RH2FFM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5ZHWMA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4HQOZ7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OL88PQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PBGLY3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XPPPKT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4N5UXP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9K6WI9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZNFVW9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6ZMGPZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4QFLY5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W5RCZ5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W0OT8W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6K2OID Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J26IKL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-94LT5I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2F9YXK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4DXDAM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T43D00 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JB3YBQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UE2OR8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J2G2YR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QP51YF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LPQLKF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OKXSYU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9KBQKA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EW75SA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VXA7QZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2ECBND Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8RWEGZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-71OM4I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TXEPMK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D5IBFV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LOJ8C9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9TRM8L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y9IE4H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2YP6AV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0UYHKY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G4ZIZR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GGVVXI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0QFCJN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LDDV8L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-V7QPJJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FM08J6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KML6XM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-28LZ47 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z4QA41 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UT3PQI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZTG3VN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UGYR3S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OCU7C6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J6TITQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-INNLAO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4TTNJE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SISSOR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K8HYMW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4VAYS9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4580MD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ONKODU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YQNJKT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1W68FA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JOWMCX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XG7SF9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CITZS0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HMU8K7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6AYEJE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5SIPB8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9YZC5T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-81ZCF5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BEEHKW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1PR60T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-37W6GD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9WQFUH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YUEMGD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B7NNI2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9WLBF2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-64K3VI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S1MIQO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VVOHRN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6XN806 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TW13WQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UI83BR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CVXLW4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KQJYLA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OR7ANC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4V6Z8L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CX636V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MUWF2E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q051WV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1XIAMG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HSYQJM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HZP6ZY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OE1WDN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T2N3Z4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F74NM9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NTSX7X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CJFD34 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZBSP3H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KM3814 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-54IDVT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JR2JPX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WD25KP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XPLIIZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NWCQPZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9CJSXV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IZS3F2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6WS2HR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QI8LI4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZLJ7NL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PS6VW6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NOAWTZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8YDCA9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3XYTHL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AWM3MM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2738IY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-N2TRP6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0ZJHPW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TGGO0Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-I26UVS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YOO8TL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RTD7I7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-16WE0P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FO3BYC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5GARR6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U9U6P1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0JHJO3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2DTRFT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IQYO9K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S2RHSJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KF63TX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PF6L2E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4574L1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9S75AH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z5B4SA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AAAGPM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S4C56X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4DSEVY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EXDVTJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J4GB0E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3VFUM5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IEI4CP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-H46PMA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IEO9OB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XRX29S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3BYJKH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YTN7XU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HQQ1OW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-I5I6ML Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5NQ0HR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-70NLHH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B13D9P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8PZ4BY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A7W81J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NG8FHL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z4LY26 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UIAN0C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YSYKTB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8D8474 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3W2HIA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K84OTB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5K156I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5DF9HK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5TKQAM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MXXSS0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GC0KCE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-12CPAZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WYYCTP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2B1H0S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UH234B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O1VKQP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7XGCJQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HY1CA2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JMGZ0H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XDOO1I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3ABZG4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-79HGDO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2LTC5K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1F7S3W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AI43N9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WC0GTG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EIJ2D7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-93L5UZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PIK6IT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CGQSK1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5Z7KUT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D96VDK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UT5E5Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-668G5I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EJ25SZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IUALFP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8X3AOW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OADQJM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-I6ZI5F Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6CNM9W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IAVN2T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UWAMM4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HBSZ2W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EOP5ZD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U7L64B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SNLRYH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-77SLEG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C8X901 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E5QQTK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YIMLNA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2MPCJ2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5DY5HM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HMU1A7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O1I4HX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JVALT8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZE14VS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GMZLPB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SCDWR6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BE1013 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TSRFVY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7P7BXA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z3RZS2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FTWXEM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4D55HT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-P96VFV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7Y0LF1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1RNLVY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DBZUKE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-449017 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OKP1IR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U8NMOJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DJCWF1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ONY97C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WVDN6X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NFJ7MR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y2X1Q9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SCD8OP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KLHO95 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4U6JUA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VLQKLO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BN0A9L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K3T3M7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6QFTUW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AO8MQZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TOF79O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1S1Q4Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UPO929 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A2PA8N Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EZNB3E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z91JST Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6Y281P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NIVFSG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SIYMQK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8Z70QF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XUA44A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J9AELZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KIRYVB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3FNTIR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OIXV5K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S830D4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8G269C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R9Z70L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D7CR5P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DYZDBD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XOZYRZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M1PTM4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U1VHZE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G47O2H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IG4MQY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5X5SLO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-INQZAG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CJMHX3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VDJ2D1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IE0GLU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YSLX8X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2WL3VF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9EBM3C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EILI11 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KDK0LU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TM91GK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WUADLH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-09MIDA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2XTMJH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8OFBK7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FDMKY8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VG303R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-750P9H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AIZNF1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5M0C8U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5EKPHP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0DMWO5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-021VZ6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OC3SJ4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2KPKJP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CUYTUM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ERSV5H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3LBR3Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3PII47 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T0HC81 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4QZO6G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3PP3O9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ARBYZX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XGGA99 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-96AM6B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZTMSMG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1U4VHB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YDJC71 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DT6ZXF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4TOOQH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1D64R9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4CU130 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-67UXU2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1JBG51 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-48G27T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GHHGQG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZJBPZ1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JEJ5K8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XWAJII Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TSY1BY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S2RV6J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ETU6TA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WN5OX3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZDE8H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CBGL5S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SWGXE9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5JP3A6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JEAEYC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4M7M70 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EHCM3B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KVVPTZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MQZZEJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y3OHUP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VTD25G Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3WGRAG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U9H2V3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A4S89R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SE5V82 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6TICK0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PUYITD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7Q9V8O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VUU5ZJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UHMGTQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YUPO2H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YHZN6I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6FNH75 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XW9T2U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R8WDXS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y2E838 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E7V888 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PQOEZN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LK894A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-51AS8A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B4I5VB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8YJPQG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VT54LB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NPUVBU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B483R0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DULHCD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0BM9RN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4U7KMJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UUDU3V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A2J34C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KDQZPN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YMUYD4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JTCE60 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6IWRNI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ECN4KZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0PS2X5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UGF1L2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C9P7CQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R1FIIJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0FCPYO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AEI0XC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LW96MO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-144JMZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9L5A3Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-32MBS8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S1G2OE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MK3TY5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-321XEF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M4YOX2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-38LKWK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-93BUB0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LJFFE3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZOIVO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8PON7R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5NQ1PR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-49MQGB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HFIVW3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5M1V3N Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VTDE3C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6QL265 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q8C6B2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QDRLHQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-URIK96 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FYTUV5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ESWPR9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6DE47M Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EZAEKG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BVMJYM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UY5LVR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OMVLB1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UIAUDH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-71DGJV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R9RV4A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L76OP4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A3ANKS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3XN9WE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FLIPPC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YYP0NA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M1J15I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AQ99J8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KGP3YE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QTA3PX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SJVRFO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BLCKHN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WX9QZJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-P4IF91 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D3G4BA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EXME68 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8MEOXO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-68OVTN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-14LPQD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZ51FX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9RZI8D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VP2KT6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CYC76Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UW6CCJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6315VK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XJZ2O7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-95I4GE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M5ACCX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XXP74O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ER1A4Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PSOU1B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3OKFU2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HPVDWL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6HPN9T Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-221712 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NYSJ8Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G944Q2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VR9YFZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JT8R5E Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-P3MRWZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A4M313 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GLQCHK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G8E9O2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AXNOEH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S8G5SZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9YV8U7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BR7ZZW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MD4GIX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9VN333 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XI8KVQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-77JWUD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-STYHS1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W3AAU9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZAZ4Q4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M7CKYX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L38XHY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-88ROJG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W8OAWK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-27Q6Z0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FC8OVC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7AV07V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JTPGCG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E071S5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZNJ1AL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6UH7L6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9SUQ4D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KFR2OQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C6BD54 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IV83JA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-92DGPY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AGTN8J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-B1BX2H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7N9OT7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UMPQ21 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S7XSN3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O7DDGQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RCZRKN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TI9OIZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XNR1WZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AWV6MF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-81XV3P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BLVGCE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3C8H0Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BL1SSF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IFKJSA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8VL3PL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NJMI53 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0310NA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZF2K0A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DK16EI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-H4H7GS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FU40EK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TAMI0U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WTEDJY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GEGJKF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-38ZHLN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CH5OBX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DO9LXD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JWXZNY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OUHNG7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AO5RK8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HQ01VD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZTNIFN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WWLFCG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FVEW43 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YDC7C4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BJRBA8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8LL7YD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RIO69B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q9GJID Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9V2FTA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EXDI8Z Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4AAWQ7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-64PGTI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X75RQL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EAYABE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4AQTCJ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LY8S6I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C39Q59 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FR0V2A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VH99FS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MQK9UG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-09BRXM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F9IRKQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TIO2IQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-HAL5FZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IEL8Y0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XQ0G76 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X4EOKX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7I0ZDB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2ZNJLR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TT5YLU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-552OGS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SQPVON Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LYB14X Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8IWSDK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OS4CSI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZJ66CE Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OQL8WB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ETES22 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CMJPNB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AK3I39 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RMD1J0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1U4Q04 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CORC6U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YIAEEH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SJT3DV Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WQCYQN Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1F4CUS Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-U1GRC1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Q1D03S Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3I21CD Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0JUP4L Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-S5T74N Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-648XEH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-CA5S74 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PMLPXL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-FMSJUH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8EX2O2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8PN5C6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-SGUJ4P Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-MIUKLQ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ICRUBE Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-B97PN5 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-VQSF6Z Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QBM23F Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-7CFULQ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZQJZHB Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-28EZ7W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-K99G9L Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WDQ5LU Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-W5MKVB Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-7F8LET Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1FE4SQ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-775S35 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8CTGRT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QEDN3X Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-VNMGHY Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-5BB8TU Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-AC6NGF Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-331ZPA Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-6JQR97 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-B88XVF Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Z6HVHH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-UIKWNL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-CNDYFL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0QZP2F Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WKOJAL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-P60Q7W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0FKNQX Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Z5VSAE Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0P3G9G Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-X0EIM0 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-W9L5ZI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Y158Z5 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XRPEIZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-6JQDPL Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-SXDGHZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WYYCTP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2B1H0S Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-UH234B Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-O1VKQP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-7XGCJQ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-HY1CA2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-JMGZ0H Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XDOO1I Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3ABZG4 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-79HGDO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2LTC5K Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1F7S3W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-AI43N9 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WC0GTG Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-EIJ2D7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-93L5UZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PIK6IT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-CGQSK1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-5Z7KUT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-D96VDK Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-UT5E5Q Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-668G5I Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-EJ25SZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-IUALFP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-DX6WUZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3G9NYR Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-RMTKPT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-RKR5K7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-39XTD6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WRUT4H Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8WLKM1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-I3NEHJ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-0CXXUP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-RG497H Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-OD31S6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3FYI3N Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-5MOGFI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-F5W02X Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-N66OMA Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-MQ0HXV Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1D4YYZ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WD2GFS Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XNXGQC Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-7YS79A Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-CVAUWR Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QXVHB4 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-BMZ8OX Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-GYAMM5 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-TZFYH1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-6WHRDM Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZHYZH5 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-MTBVJ6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-D76FB1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Z59TJ8 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-PQLJ6T Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QIX40W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-H34HBI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2HWF4W Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-RYS484 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3X4KFS Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-V1II6I Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-YM4J02 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XQ42QJ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XHM35C Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3B28BG Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-9TA4U3 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Z5SU8D Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZT6Z2M Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-KU2ZOT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-E72EI0 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-253ZXH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-S4P7QI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3CUGE2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-C8BJHO Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-ZJR7L6 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QKLET1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-K8QNT9 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WXT05P Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-34WXS1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-29AR17 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-UGPB3Q Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-FHRSFA Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3BRPMN Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-NXSE1E Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-01I4G0 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2ERCSC Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-693BH1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-P9VPCB Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-9MAQI1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-SE44OS Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-H2CNMG Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-OBJEHD Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-04TC66 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-XVMGX2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1DH8ST Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-4PTMYJ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WXHM88 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-U4JWQH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2YUTN9 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-JXRRIS Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-BZZ8IQ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Q0DKYW Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-DNSYE4 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WTBIRT Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-U023BW Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QG37PF Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1DTX9E Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-6A98IE Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-1X80OI Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-JR5VLP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-65AJ2R Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-OU1BKC Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-P429Z8 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-9RLR2B Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QTDOTG Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-16CLT8 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Y798LW Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-IKUWQ0 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-THHD7V Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-QFK67L Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-DPFGZD Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-59VEBW Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-8HOEB1 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-78JMRB Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3W14WY Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-LQ4P76 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-X272KJ Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-DSSYWE Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-W5CC9K Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WMM0F2 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-LQRHPP Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Y4KSIY Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-TX9RJA Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-3QD15V Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-155KW7 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-WPCX9F Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-Y9BUOH Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-9XJF14 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-L4B7H0 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-9EM6AI EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-J5K807 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-CGO2NU EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-MQR5Y6 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-O9AAF5 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-HEJK75 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-SUOPI3 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-MG2WPK EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-19Q570 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-3KK4S0 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-MNEW8J EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-8F9UX4 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-4THP5A EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-D2VM6N EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-SDH52Q EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-KSSSYT EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-WCU1J0 EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-G2Q8KL EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-K7NHEO EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-ENY4CV EBV-related Burkitt lymphoma 2A85.6 Cellosaurus C27694 TPD-QKR72G Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-MS0IDH Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-58GBEZ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-S1EVER Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-O6RNNR Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-D0HYCL Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-4VAV9G Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-ZUQSU2 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-M9TVVV Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-5C1L0B Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-GCXVRB Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-4MDSSG Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SV52YJ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SIEU8E Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-0MRK4C Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-UG0KDY Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-ENWE0U Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-J8MTI9 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-3A3WWA Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-3U0FSN Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-35INJS Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-TFG5IN Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-CR3VWN Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-II9YUS Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-CV1XG2 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-DY9C8N Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-8XMZ9P Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-T5M671 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-AB3SXS Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-DUL83T Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-9TB2IT Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-94BQWZ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-VRJY4X Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-0ZNQ5U Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-HPYIZK Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-3OPVMT Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-3AW4QY Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-QU3REP Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-7QO7RB Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-VGTTF3 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-MRW834 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-683VLE Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-IKCMIN Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-RGAN6W Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-6CNM9W Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-IAVN2T Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-UWAMM4 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-HBSZ2W Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-EOP5ZD Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-U7L64B Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SNLRYH Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-77SLEG Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-C8X901 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-E5QQTK Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-YIMLNA Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-2MPCJ2 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-5DY5HM Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-HMU1A7 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-O1I4HX Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-JVALT8 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-ZE14VS Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-GMZLPB Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SCDWR6 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-BE1013 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-TSRFVY Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-7P7BXA Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-Z3RZS2 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-FTWXEM Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-4D55HT Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-P96VFV Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-7Y0LF1 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-1RNLVY Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-DBZUKE Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-449017 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-OKP1IR Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-U8NMOJ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-DJCWF1 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-ONY97C Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-WVDN6X Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-NFJ7MR Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-Y2X1Q9 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SCD8OP Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-KLHO95 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-4U6JUA Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-VLQKLO Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-BN0A9L Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-K3T3M7 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-6QFTUW Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-AO8MQZ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-TOF79O Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-1S1Q4Q Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-UPO929 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-A2PA8N Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-EZNB3E Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-Z91JST Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-6Y281P Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-NIVFSG Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-SIYMQK Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-8Z70QF Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-XUA44A Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-J9AELZ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-KIRYVB Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-3FNTIR Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-OIXV5K Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-S830D4 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-8G269C Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-R9Z70L Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-D7CR5P Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-DYZDBD Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-XOZYRZ Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-M1PTM4 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-U1VHZE Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-G47O2H Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-IG4MQY Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-5X5SLO Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-INQZAG Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-CJMHX3 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-VDJ2D1 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-IE0GLU Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-YSLX8X Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-2WL3VF Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-9EBM3C Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-EILI11 Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-KDK0LU Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-TM91GK Acute promyelocytic leukemia with PML-RARA 2A60.0 Cellosaurus C3182 TPD-XE8DVI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-YQMHH4 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UDOJ6J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-NB688C Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-56GZZK Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-L32OYB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-2FW73Z Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-PVY6HU Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-72EK28 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-DDS6U7 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-910ANF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K5X68L Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-79F8J5 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-H5J0EQ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-Y80K8J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-H1LXF8 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-E5YLS5 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-GE92RT Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-3F5V93 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-NDM17B Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BSKQ0V Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-PPD01C Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VA49GG Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UCPWWL Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-8AVQ2M Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-YNZ9H9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-QUBQUB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UI5N55 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-2CA3R1 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-5D0KYM Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-T54R13 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-1PV88G Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K4JWPV Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-D01DA3 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-EYQG1W Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BST6RV Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-EPIPA6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-TDAD7W Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-PCC8CB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-Z55SKU Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BDO75Q Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-E82NIN Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-Y1XEVO Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-Z5RKPL Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-0TLOAR Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-BBGRBL Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-N76G5L Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-0JF90O Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-VF5C6F Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-KMD5EP Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ECHE5W Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-R8HX47 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-YCQSKD Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ZA9MQ2 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-EMU4A5 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-JVVO7W Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-WO0YLH Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-RHZQLA Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-GTLQQ4 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-LV9F6V Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-BUUCEI Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-GFX0D5 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-BR6S8A Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-QGD7C0 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-DWYBZD Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-PIY4DN Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-BV1XGN Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-PK5TI4 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-CLVQJB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-4806AE Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-XUW2XL Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ZSGS23 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-VJ4QLX Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-XP9OE9 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-EVEG1M Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-N0FTGH Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-T9CK08 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-Q9413J Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-Y8Y8HX Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-QPCGK3 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-RLPEW5 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-8BFZNF Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-P9CAME Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-0SOXT7 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-59L0WI Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-T074GG Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-BAANPM Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-4KPA9L Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-LACECZ Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-5WJ2YM Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-IYABXH Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-2LI73I Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-MV5223 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-35RKUA Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-5MIVTY Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-V1PLQM Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-APCGS1 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ARNZKO Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-B4T20T Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-HEEEOA Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-WVX5WR Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-FHVM3R Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-EK6TC6 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-PKV84E Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-YGB3A0 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-SVICVQ Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ZF8IQ0 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-HZQFFV Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-C2UVH1 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-HMYNZI Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-L1GSTZ Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-QAIFIB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-5JSF0J Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-QKR72G Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-MS0IDH Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-D0HYCL Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-4VAV9G Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ZUQSU2 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-M9TVVV Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-5C1L0B Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-4MDSSG Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-SIEU8E Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-UG0KDY Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ENWE0U Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-8XMZ9P Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-T5M671 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-DUL83T Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-VRJY4X Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-HPYIZK Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-3OPVMT Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-3AW4QY Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-QU3REP Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-7QO7RB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-VGTTF3 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-683VLE Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-RGAN6W Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-9KKPOB Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-ES6X6S Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-EZLVXI Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-TJZ66I Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-E7JZB3 Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-1NUH9M Lung large cell carcinoma 2C25.3 Cellosaurus C4450 TPD-2AXVWP Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-IFNSNA Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VU1Q85 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-3CRB83 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-40C3UI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-M4YFQ5 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZBYMGX Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-NE392E Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ROFUO9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VW0SPM Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-XSTHPE Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-V6DDGX Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-T4YCPK Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-B715Z4 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-2N5QUL Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-RGNZU6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-XZVELY Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-P12RAI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-8KEXVI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-4VNGMC Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K79PIM Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-AYAXM5 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-NPUJDM Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ABQ6BY Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-CB6BNX Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-NXH4RK Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-Y00ONR Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-EGY9L9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-YSBDR6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-AE60JW Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-HTSCWY Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K85LBD Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UYFE2J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-R7YUEX Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-5TQTW1 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-KKZY4E Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-RQFULJ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-CWJVNQ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-1M52UL Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-MSELR3 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UO71X2 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-Y0IJ13 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K3PLEO Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-PEZB26 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-AJSMDE Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-OX6DTR Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-M6C3QA Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-KU4WLQ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UXDFAF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-56GNBG Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-SVDP6J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-67WBZC Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-E56WDN Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BH8JQ8 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZUNETX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-USLYHX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WL2JNS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SRW0D5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N9U153 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XBMLTT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-P9QHWQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S3JRYC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BJB54Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YS8ULN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3ZUES5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5FWC6S Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YA4C4T Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7638BK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OIE71Q Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BIREK2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-98XV6X Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C6BOOY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QQ3ZHL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PZLASM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YVR69D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-F9YXGZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PSP6UA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RL2H35 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0CGC8K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0EU6PY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PPJWGG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0TN5HA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GU4QGB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B6PPX8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ABJ33Z Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0W5T9H Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EVK1IA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RQST5R Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TLUMDB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DSYX3J Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PZRY7E Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-L1ESQH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NJLZE2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V5R6I9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1R9SII Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BCOMRT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0PMGM2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-41C1NC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FNC886 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7U5ANE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WT9J3N Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4WIWN8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0IDNWT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EPGWED Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C7BL6K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XTNTND Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0Z037N Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8B3P3Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MERMPE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4A3RX9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WSNTVT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S1HFV9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YF0PMV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LLR5FR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZDMI29 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1TY9B7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TFR030 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1DTE58 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K2HKNI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9GIBXM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1V4B2D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LYCIOI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-79BPQ6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1TO1TW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DQ51VL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-25A18S Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-X9UD0F Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NSIURM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YWFUJC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9DQWCO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-27S09T Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SQ4BT1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UZ56K7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EESM2G Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MBHHFZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S2HZEC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5LDU64 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-T2O1RN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YL1DY3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N31QMR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XAS5OF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NDWSWK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-R7536K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4S6P7W Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8RF7MR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PHTPKQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-W64JLC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LXXUPN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LTVH73 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PI5DLS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NQ9E9L Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IVMBU6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PZS86I Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SU39UL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ADYYWI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JRYKS0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5AFP0C Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MV0HGN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NI2G1F Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XQB5GY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VWJZQW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HMB3B7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FRT1DY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1OY5ZJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-D19600 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RMGUJP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MAVGA3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-308UO9 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-A4X07E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-D1Z2H8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6HW2C6 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XSDBKS Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9VWGU2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-QB16A8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PIV3F1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FN6HTR Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-9M0I9K Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-HF3D1B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-6CRFAK Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EDP7ZW Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PKDTLN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-VQ194E Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-V8A8Q1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SX8PA0 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-J65UL3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-P3XP0B Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-5QHNM8 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-SF5NVU Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-J9N6J2 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-GSW519 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-PCC4P3 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-FMTR83 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-98CDJA Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-BSEH5Y Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-56DMYN Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-EE3ZSG Lung sarcomatoid carcinoma 2C25.Y Cellosaurus C45540 TPD-QLKGGI Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-XFJWJ1 Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-93OD2F Lung adenocarcinoma 2C25.0 Cellosaurus C3512 TPD-N76G5L Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-0JF90O Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VF5C6F Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-KMD5EP Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ECHE5W Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-R8HX47 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZA9MQ2 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-JVVO7W Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-RHZQLA Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-GTLQQ4 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-LV9F6V Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BUUCEI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-9KKPOB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-EZLVXI Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-TJZ66I Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-E7JZB3 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-1NUH9M Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UQ05UU Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BYII1J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-OQG9UV Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-L4MWOF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-KH3KK9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ITHY1L Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-HMXGNS Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-8IRMUT Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-CL8SEE Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-GMYM1J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-YQ9CB6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-8DQC6N Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-H0POCF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-RVRDM1 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-DBEPRP Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-52BPZZ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-U54D6S Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-HP6ZOH Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-W33ZZQ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-J9T3X2 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-492LPF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-1LJ84O Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-5BBZ4O Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UXZY2K Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ATSDUN Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-3KANGC Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-JO5I36 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-FZBZET Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-CFGB8G Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-DTPRRD Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-WRA7XB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-M4348P Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-AAEFA4 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VPR0BG Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BQEJ7O Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-580M95 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-SIHB9J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-9H5DB7 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-JUKUHB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-LLAAI2 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-WMTJ2T Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-E3W6SB Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VQH39B Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZIAHXN Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-V8630H Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-542PB1 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-VO48OH Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-3VVXM9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-5UF7MP Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-KQT5HQ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-O45CSF Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-1T7TNR Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-H6IMFY Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-8YYLJH Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-BZGJHV Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-S9Z7Z8 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-SGMCU9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-AEYYIA Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-T1WPMS Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-K7IS1L Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-6VR4L6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-FS3DGA Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UAG2FJ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-SRM991 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-UD9HMO Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-49Y098 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZPRSHJ Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-IP5TV6 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-F0ODMV Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ERUJK9 Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-A1FW0J Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-ZXASSR Lung small cell carcinoma 2C25.1 Cellosaurus C4917 TPD-GUXSDJ Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-YTQJQ2 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-BSCJ7R Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-5KWJQR Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-XILW5Q Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-MZ15CR Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-YAO9KF Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-IY59BI Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-F9IXT3 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-KWKLMR Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-P8NIZQ Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-XHF3LW Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-BAYLQY Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-DWH235 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-OWVDD8 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-KLFZ1E Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-JCJFBP Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-YNJ821 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-LRC8SY Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-MBZST2 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-B6Z6F3 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-7ROZQ4 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-QZ4WF9 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-4G8EYD Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-0BRIGF Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-KOHFI1 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-J7A3HY Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-7LAIPP Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-718IXQ Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-HYF0AU Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-JO8DSE Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-2X2B5T Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-03AUEX Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-PVFOJN Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-NPFC0O Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-8L704I Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-6CK6N2 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-SW9JFK Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-3YHMMM Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-09NRO5 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-J3ADNO Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-O75JPC Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-JFVBR1 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-86YMG4 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-R9KGKL Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-U99ZS4 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-94F521 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-DM1J6Z Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-OXXT4X Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-Y2VINU Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-BO8A2K Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-1A34AB Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-92W2F5 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-W1W9EO Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-LDHDQJ Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-Z1AMWK Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-3EIU43 Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-5LBL8T Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-OSZXRS Gastric tubular adenocarcinoma 2B72.0 Cellosaurus C5473 TPD-SJT3DV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7S830T Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-UWAMM4 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-P96VFV Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-DBZUKE Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-K3T3M7 Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-A2PA8N Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-Z91JST Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-SIYMQK Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-D7CR5P Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-DYZDBD Adult acute myeloid leukemia 2A60 Cellosaurus C9154 TPD-7S830T Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-UWAMM4 Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-P96VFV Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-DBZUKE Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-K3T3M7 Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-A2PA8N Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-Z91JST Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-SIYMQK Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-D7CR5P Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-DYZDBD Acute myeloid leukemia with t(6;11)(q27;q23) KMT2A-MLLT4 2A60 Cellosaurus C132105 TPD-263U1M Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-57QO9Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-C4L460 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DLWSET Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UQ2NFS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-94KQNH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BZPG9Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CB2UT6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8P50ED Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UO9R40 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6VXFA4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RBOCQN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y05ZO3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RWNK89 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KK7H0G Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UU0MT1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HDN9LL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VMVNQ8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-H0W06Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9I7HKG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7KGCUF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HFI5FO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1U96FT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RED0B0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MWJZ6N Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EKLET3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3W86RA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MFQHIW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8BYUWM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F4HJL6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-50KLMB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZSYWH8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-S1C4TO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-340DM1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M5O58Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JWXHL5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OB631U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-H79607 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G55UC3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-R46XZD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VC3FO3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GJLVWA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-64CL3V Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-69M8HQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-71WOH1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AMNTPI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AG1JC1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5CLO3R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6X71T2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GQ63T0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZL3BRW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2YZNY1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-H0AK6J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TKBKNH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FN11FF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G3PCH6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1VAOXL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SHA66D Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EA2YAI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FN2E1W Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5FD05O Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9K3J9F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UAZY3E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U14J3F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GQ7OW3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8W43D4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-J06IYX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VRVCKC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QBVI1I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-THTEN8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4AC7EQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GGDBMC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-A3UABG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZNEKRS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JKXVSH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y2C869 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-01L2AW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AJUSCE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-B2F9T7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BVME2A Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0AABHY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-32OV2R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-X18S72 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BX1LLH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TJ3EIW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XIU8U1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-I1VZ4K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-S89RHJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LTR09R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CNV9OG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DE5QQJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-958L22 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RGAWJ8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-STGW77 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XD5ZLF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SDSP13 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-D3WVTP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PZ88EL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DDAQPX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9GVRZU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DUQRBZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MWCE6Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-51ZWFR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OVD6IG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NUOUQ2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KVQXDU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CG7KXQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-17C4OW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GOSO2T Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U4JWQH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2YUTN9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JXRRIS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BZZ8IQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q0DKYW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DNSYE4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WTBIRT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U023BW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QG37PF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1DTX9E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6A98IE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1X80OI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JR5VLP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-65AJ2R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OU1BKC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P429Z8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9RLR2B Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QTDOTG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-16CLT8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y798LW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IKUWQ0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-THHD7V Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QFK67L Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DPFGZD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-59VEBW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8HOEB1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-78JMRB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3W14WY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LQ4P76 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-X272KJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DSSYWE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-W5CC9K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WMM0F2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LQRHPP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y4KSIY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TX9RJA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SJT3DV Diffuse large B-cell lymphoma 2A81 Cellosaurus C8851 TPD-TGN2WG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-S3G434 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5IUI2C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1W9OWM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-72HDPW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6FQNEE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RDUOVC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CACG1S Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1N19AC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6Y96IV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HBYALR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-K8OU97 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0U8NNZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3Y1AOE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WIL7M2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HZ5MA1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P9VVR9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WHD175 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LFZ3YH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q9QO7Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XU5YAA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZQKSW5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9RZ5QK Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6WKI6K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8S937U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-V3TE14 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-96ZT5D Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QKCJ16 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OYKGFL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2NUT7S Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JFVBR1 Esophageal adenocarcinoma 2B70.0 Cellosaurus C4025 TPD-86YMG4 Esophageal adenocarcinoma 2B70.0 Cellosaurus C4025 TPD-G1IE4T Ovarian clear cell adenocarcinoma 2C73.00 Cellosaurus C40078 TPD-7662BG Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-GIRHV3 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-V7CM1G Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-AKRE9J Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-WZ602Z Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-QM0YY7 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-RH5RU7 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-FJRQU1 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-KLUID1 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-9VTWWV Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-VFPYPP Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-9WV5LZ Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-MPW2ZF Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-LJM95Z Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-0224RB Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-0I99U6 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-9LQZ1L Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-AZ4GCP Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-ZXOYEB Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-PHQ5A2 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-8G09RL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WQON8E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JLRWQN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2SA4KG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DDTC92 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YC5F4J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3WHUQZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7O5D0O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6ITJYU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PFCQOU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RZLI6W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DQTZ66 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8XFQYH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EE4RUB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CP6JJ0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-74ICJ6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X7NG9E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LP6I55 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IIWCIL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q51CKH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7SRF41 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9DPMHD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z8J3ZW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RN7UE3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q3SMAE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z0BMUW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WVOY8Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JTDJFM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G1IE4T BRCA2 syndrome 2C65 Cellosaurus C36101 TPD-G1IE4T Ovarian cystadenocarcinoma 2C73.Y Cellosaurus C5228 TPD-W2HR7T Primitive neuroectodermal tumor 2A00.11 Cellosaurus C3716 TPD-XBKJLP Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-OAO512 Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-D533FA Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-PNVLIV Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-7Y1SXL Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-6T9M2D Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-0XIA1L Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-B7PYK5 Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-RHHPGM Pancreatic carcinoma 2C10.Y Cellosaurus C207229 TPD-KJCNEJ Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-2LKCWL Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-GC2IY1 Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-4JUUCX Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-I8NK5J Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-7MZP9B Pancreatic ductal adenocarcinoma 2C10.0 Cellosaurus C9120 TPD-HDR8DR Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-9ROWSY Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-0JIF10 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-P68ZDC Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-P8WOLT Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-L0SJDG Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-Z7GNMT Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-KHA99P Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-THB87U Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-TY5Z3G Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-EVUFW7 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-A8YKRR Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-4MZPK5 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-JV59W1 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8YH8IC Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-EJ6CYL Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8U99RT Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-2K8JE6 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-5HGR7P Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-NS5P5F Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-P32ZJE Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-BN4TJS Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-WD3OQQ Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-JWI5PV Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8JJTW8 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-K1FT9B Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-54QCFY Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-6CN922 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-EGJXMO Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-MZCVMA Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-SVKCV9 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-E0HCGR Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-MWVMCL Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-TWEQXE Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-XVX95X Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-QM2QCU Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-TRH818 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-K03Z89 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-RZ1X2D Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-XCKVOL Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-Q9GK9E Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-QGDG39 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8HEDZN Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-UIHBWG Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-O2WDA3 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-Q6TO58 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-1W74JC Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-T2JO07 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-9L8I8I Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-IY1Z55 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-UZF162 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LQ7II4 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-NELJ94 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-OUPQ9B Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LH4ZV6 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-VRUYTR Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-FE9B6W Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-7Y7750 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-VETUGT Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-K0Z0KJ Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LM125T Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8D1296 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-YRENF3 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-DLT37G Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-MNXZNB Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-0MQOQP Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LT31SD Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-YZT2TD Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-31LHRD Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-OMP8M6 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-QTRU02 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LQK17X Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-L2AF40 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-12FJYJ Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-CVDB6N Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-1QQQMV Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-KBUZPI Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-7DN8RZ Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-DVIL0V Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-GXGC5U Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-7G637K Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-LDFZNY Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-2OXQM9 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-XS0SAF Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-XYO3Z9 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-DMCZO0 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-GCIPAN Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-T6A60H Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-09VA30 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-IPPULD Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-YKRJNH Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-IDL3QN Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-P63BD8 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-PAGQSH Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8F5TLV Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-IX9V1Y Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-8RBI83 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-443349 Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-0NDH7H Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-KKSNGB Burkitt lymphoma XH4KA9 Cellosaurus C2912 TPD-4BAM0Q Clear cell renal cell carcinoma XH46F1 Cellosaurus C4033 TPD-Q90952 Colon carcinoma 2B90.Y Cellosaurus C4910 TPD-7MZP9B Endometrial adenosquamous carcinoma 2C76.4 Cellosaurus C114656 TPD-D3G4BA Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-EXME68 Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-8MEOXO Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-68OVTN Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-14LPQD Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-NZ51FX Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-9RZI8D Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-VP2KT6 Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-CYC76Y Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-UW6CCJ Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-6315VK Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-FI0Z1O Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-NQ661A Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-XJZ2O7 Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-95I4GE Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-M5ACCX Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-XXP74O Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-ER1A4Y Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-LP5NVO Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-M0BNH8 Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-Y9LFXU Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-53BA38 Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-N178OI Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-EUWLWO Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-PKZGAX Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-VWGFAV Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-6D244L Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-UQCJ6D Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-C4YO8K Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-T4Y5FL Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-5HI5NO Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-3E5HDO Adult B acute lymphoblastic leukemia XH8NN2 Cellosaurus C9143 TPD-D3G4BA B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-EXME68 B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-8MEOXO B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-68OVTN B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-14LPQD B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-NZ51FX B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-9RZI8D B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-VP2KT6 B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-CYC76Y B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-UW6CCJ B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-6315VK B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-FI0Z1O B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-NQ661A B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-XJZ2O7 B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-95I4GE B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-M5ACCX B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-XXP74O B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-ER1A4Y B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-LP5NVO B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-M0BNH8 B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-Y9LFXU B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-53BA38 B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-N178OI B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-EUWLWO B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-PKZGAX B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-VWGFAV B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-6D244L B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-UQCJ6D B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-C4YO8K B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-T4Y5FL B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-5HI5NO B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-3E5HDO B acute lymphoblastic leukemia with t(v;11q23.3) MLL rearranged XH8GG0 Cellosaurus C80342 TPD-6G8JR6 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-D2288Z Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-K7OHH2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RWF9EE Osteosarcoma 2B51 Cellosaurus C9145 TPD-X0GEZ4 Osteosarcoma 2B51 Cellosaurus C9145 TPD-BKN68Q Osteosarcoma 2B51 Cellosaurus C9145 TPD-D8QJPM Osteosarcoma 2B51 Cellosaurus C9145 TPD-9G7O4H Osteosarcoma 2B51 Cellosaurus C9145 TPD-USC7II Osteosarcoma 2B51 Cellosaurus C9145 TPD-X2K31J Osteosarcoma 2B51 Cellosaurus C9145 TPD-HOG5AT Osteosarcoma 2B51 Cellosaurus C9145 TPD-BR7PWR Osteosarcoma 2B51 Cellosaurus C9145 TPD-I6CH1L Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-T4OZ3A Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-NMPGMF Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-JHXRQ9 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-SJ3VL9 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-OU9NBT Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-N5IWUB Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-Y0KW1C Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-UR6RAN Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-RQRTG3 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-Q74KHE Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-BMHCQ9 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-Y6KE6M Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-6UO6DG Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-1CX2JH Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-KSKMPO Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-SKKYH3 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-LU51P1 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-SEWDI4 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-HD1N0F Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-KGV2SS Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-YMAC5H Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-24N3G8 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-01M164 Liver and intrahepatic bile duct epithelial neoplasm 2E92.7 Cellosaurus C7106 TPD-DSHR21 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-R5B9ST Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7MAH7K Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-JR8Q5F Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-C6LIWU Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-MYXYG9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4BNU24 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OXT2AB Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-2EC1E7 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9W2K2P Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-Z68623 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CRYR4I Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-5BX1XC Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-IN7SUV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-XIVA36 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-KMRP8Z Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-NJ8567 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OIZY75 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZC3780 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6VN3JU Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-U86JZK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-G8CF9L Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-SC2KXY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OZOBLG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-IGPHRD Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EDYLNQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-PON4QQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6TBX0Z Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6TXZ42 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-8457DC Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7QUTKX Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-U3WSW8 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9WDXLM Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-LQO0ST Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-I39NFU Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4F4450 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-26Q52P Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-SOENDL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ASUUAI Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EPHHGI Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AWMPZP Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-3TRGF4 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-2L65YG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ACNFLC Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AQI59K Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-TJCKRS Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-MIPSV3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-C1Z9SO Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-MSJML3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-TS0243 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-DN41XY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-YOSWL3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4SPA5D Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-VRS0AQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4GUVPG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-2DJGT1 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-1GVCLR Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-PG55U9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EI0ZIL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-VZMKYT Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-2RY6JP Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-62XQL7 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-J24DD2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4BQLBM Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-QR1QIH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-MKGNH2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-NH432C Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZKZY32 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-3FX0LB Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-KEJNPE Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9KTNPT Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EEG1SI Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-P4BT36 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-UL82OC Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-NPS9IT Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RNA6C5 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-Q3V1P9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6WVD8O Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZZS6EK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-C92GQP Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-VHOCH9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-IT8C4Y Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-KKQGG9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-E8BPBV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-P32AHT Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RS8AFQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6A0207 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-XYR6KP Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-0V0QW0 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-492ELL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-PU2X6J Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EIB4CN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-DOT6M2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-O40K7D Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RIQPOI Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6VI6BH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-IDALL0 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-HQVILG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-WO8VK4 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9GUWGH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CJ4VCU Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZCPEYA Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CGCDCS Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-J3WO6Z Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-E8F1X2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-JPSEIN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-S1MRBK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-8W58EV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-36EG9Y Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7IDODH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZDPRUN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RAI29I Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-QH0VM3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-WDQ42O Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-FNRZEF Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-8PSS6H Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-JUXS5G Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-1RY1D6 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AAUTT3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-BFS0S8 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EEW8IS Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-04LHMB Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-1QZGJ9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7RHVGK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-XES8Z6 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-5ONUSV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ABERKW Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-8B0RBY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RWUJWO Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-HLFQR3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-PD2CZM Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-U3SR81 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-YQ94R9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-33OQRA Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-KB0FO1 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7OIFHG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-DK5O7K Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-Y1ARCW Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-87DSVR Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CNZ6XY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-0DHH92 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-1IT9WF Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-TC7QQN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-8MISFF Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-534B4F Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OTZD3X Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4KWLSH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6M3RVJ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AHXXXW Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-L0VXJQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-L1WQSB Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZVUWQG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-SWGL23 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-3LUF53 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-HNYB0D Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-C5G7YR Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-R8NC9W Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-72NS9Q Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-0ZNPWL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7WAQTV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-3I0UYH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-5F156W Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6BMX01 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-4E2T4A Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-G0XRW0 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AO1VS1 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-Y92RPN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OWJLJD Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-032GFV Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-2E59W5 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-BL9D46 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-YXAB18 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-0WBSIW Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-FKXGQ8 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-44ZMYA Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-OLT12Y Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CUF8MA Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-HAT6B5 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-CHDRDD Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-EE3ZSG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-PSOU1B Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-3OKFU2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-HPVDWL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6HPN9T Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-221712 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-NYSJ8Q Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-G944Q2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-VR9YFZ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-JT8R5E Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-P3MRWZ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-A4M313 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-GLQCHK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-G8E9O2 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AXNOEH Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-S8G5SZ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9YV8U7 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-BR7ZZW Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-MD4GIX Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9VN333 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-XI8KVQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-77JWUD Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-STYHS1 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-W3AAU9 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZAZ4Q4 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-M7CKYX Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-L38XHY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-88ROJG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-W8OAWK Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-27Q6Z0 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-FC8OVC Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7AV07V Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-JTPGCG Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-E071S5 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-ZNJ1AL Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-6UH7L6 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-9SUQ4D Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-KFR2OQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-C6BD54 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-IV83JA Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-92DGPY Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-AGTN8J Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-B1BX2H Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-7N9OT7 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-UMPQ21 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-S7XSN3 Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-O7DDGQ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-RCZRKN Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-TI9OIZ Cutaneous melanoma 2C30 Cellosaurus C3510 TPD-53JFN0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5LO5GV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PG1TBF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JX7FW5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TM9LYG Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-N89R4E Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JR375V Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1PPZ8B Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RWNHP5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-LDGXUA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FRXDD2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CT4E9I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4V4IK1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-M9N91P Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PFX2B7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MQ578F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OVL24J Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3NP4NB Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CWZGI7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-90E30F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V8I7QG Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-U46WTX Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8IRFVT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8RWIZJ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-36470U Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-98O5NW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QP31M3 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HVG1X3 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3Y0ZTH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EZP0E6 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-K0K3AH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DSVPLC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QQBHHM Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V2A7TY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BC1R84 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NPSE62 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZOWC9O Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TPEJ6Q Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GUB688 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-2HD0Q5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8RZJ2C Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KACMP0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-7XFJ90 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-UOTT6F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BDM0CF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5YKTS2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3ZX3AI Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-XEMLYI Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0O4YO9 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VWOKOL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AEMMRJ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5XIOIA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CARXFF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JCE33C Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BRLPXI Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-29B0WK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-AS0FI1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PZ2SI9 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9H1S6Q Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OH6PMT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OS61A3 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-K5Y3NP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FKHNKF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-6937SP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CXHLAN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-RATL65 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KN6N0K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DO0K7F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-2JFBDJ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FA59K3 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ETC4Y1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-6M2DZ4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-I04YY1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9ICHIR Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MLC3L1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZPK6HC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-H62EE7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-LFJBFH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PF7G5K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NUPMD7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WOIW1B Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VU3VON Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WBHZXM Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QSJ610 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WEM6UF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-7GVA2K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-A2C12A Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-57BJ4E Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-U5OTJE Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CP060B Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-Z3W511 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0A989U Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1UF9O7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-N8ET7K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-YKIZ6D Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZZQTPF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-O85Z6A Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PUGLQT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-F6ER55 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3ZCK2H Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0UILNJ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3TAPDS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OAUYSH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PKQPVU Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NVFIPD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VSDA0K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DDRHHF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-C3W7J8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9HCWC3 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FG4SA5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4WH6AR Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PPV1UY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NNMGTN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-JR6OD0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MWGE2M Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-SQRRAU Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4MK0OZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-3IF61P Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FNLK21 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-P3NRYY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-D1CR94 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-XBD7ME Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-A6PARC Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MGPBBL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-S30715 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-M7OYXZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-W3KE5F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4T4OY4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0TMDLB Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8H18F2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CJ5N5B Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZUEZIE Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9PEZZ2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-DYD6RB Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WRITSA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-F1PCHV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-00OJ37 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-H17ZE0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9FCDF5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-UDHPNB Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-YNHJGS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PMDZQR Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-SP195U Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EVH84I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-2UTCTU Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V966KP Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-55AB1F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9AOOO4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-P4B9EN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-T8NJ8F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-13LFPZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VEOHZH Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-HLX1H6 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-X7ZBMW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4892BO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-OVOQM5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZNZB31 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0YD1GV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-I6VTPA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V4BYKO Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0A7OPZ Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZLGVSF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-80P4XB Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5TYPZD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-L6TM0O Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GP8W5I Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KGTEQY Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-IUC7PT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QWO9W8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ZI4GRV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CT769C Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8SX701 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PRHP0S Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BWE32T Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-CJSFK7 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-BPXQHS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NVOQL2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-0YL3QV Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-LXQ3YW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-W25SLS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QTW6ST Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9ET03F Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TEB6YD Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-1Z45DE Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FASD1Z Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QPLIC5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-ICY4Y4 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-PNW0RK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NUNW60 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-WTR0CK Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-9RSZ0K Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-5O9UE5 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-02NQT0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-KE5UHS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-NTJ7LX Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-FA6MM1 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-X4OAQT Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4CENZA Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-S3JG04 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EMB6FF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TQ4781 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-GNMH2Z Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-VWGQZN Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-8EDU9U Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-4ASKD0 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-QVYZLS Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-2XUHH2 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-MBYBZ8 Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-EQM8VL Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-M1JCZW Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-V920PF Neuroblastoma 2A00.11 Cellosaurus C3270 TPD-TEONLH Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-L4MWOF Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-HQPUMB Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-KH3KK9 Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-ITHY1L Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-HMXGNS Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-8IRMUT Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-CL8SEE Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-GMYM1J Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-YQ9CB6 Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-8DQC6N Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-H0POCF Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-RVRDM1 Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-DBEPRP Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-0I7LR2 Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-HD1N0F Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-YMAC5H Ovarian serous cystadenocarcinoma 2C73.Y Cellosaurus C7978 TPD-H276AB Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3HZ92C Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-70TTKA Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-63KPB6 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-N3PTV9 Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-ONBVRI Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-3SZKIG Breast adenocarcinoma 2C62 Cellosaurus C5214 TPD-QHYM7Q ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-UA4LNK ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-UEBV5L ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-VVPEWF ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-1TS0NP ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-XEEYBI ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-3VPEXG ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-Q7HW45 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-4EZYIA ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-UGWULZ ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-5BBMDT ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-9FFMGU ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-86DZC3 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-Z7LMA1 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-YNYH3W ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-DKJ4PJ ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-XCTCV9 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-ASU6WY ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-9M4EVY ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-VCS18D ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-QM9IFR ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-1ZW5LF ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-ZRRDQV ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-S7LY81 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-3FY2BE ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-25EUOR ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-R94K21 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-H6JO63 ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-CAE44E ALK-positive anaplastic large cell lymphoma 2A90.A Cellosaurus C37193 TPD-ALMY1U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1PRG54 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NTU385 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WU2I8A Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OAUODU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GNJ79Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HV4BFM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XLVW5F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QUIA54 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FCKU8I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KO6OAU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-V8CJU4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FW8ANC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XFFQEA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9L41C3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QUU8B4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LEV2CT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2904TH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0Z029K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KT3FD6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZEQEKV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1MFS6Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QA11OR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AXZ8HP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-80O7RH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-USAHDW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EXATTH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8HREA3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F70OGS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3G0PPV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8ALXZD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9QFEDL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5V7WDZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QUS6ER Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-C6L6BV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TLDHBB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-07GBTE Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-T54D9I Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-RLSV1X Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-P066CE Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-41C3Q8 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SSKRBQ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-C4IDN8 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-QVL0RN Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-F60FNW Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-E8ODKV Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-K14DRE Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-S5YX3X Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-W2WYJ0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-WVOCNW Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FXVYI0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-NBMB0L Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-LQ4042 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-RJBSYO Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6EQR31 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-XG2X40 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-OAK10D Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-TWZLH2 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-YMG9SD Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-BK39I9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-ABHHLG Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-ST2G09 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FP3H5S Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-77Q0D7 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-QEK9DT Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-9925SQ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FVB501 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-AWOJ57 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-MCV9KL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-N910AN Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-QW4GCF Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-DF8QQ9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3NXE89 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-ZT2TNQ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-638NWK Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-A0AKX5 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-49OXW9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3UIZZI Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-A83X0R Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-1Z6K7B Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SU7L4B Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-5DPS33 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-4PEP2L Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-7A8IQY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-34UAM2 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-WBEFIP Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-YQND6C Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-QUU4WK Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-Y7IW8P Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SZYDNY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-ANWCIX Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-DYENBY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-C9HWME Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-GJRVOF Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-YDJALG Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-QZT1OA Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-DD2B3V Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-MXX0J9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3RGH5S Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-JGUHLC Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SANNVD Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6WRGKL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-W4ENJT Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-DZZG26 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-ETRIAE Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-5DDVBW Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-05OTN0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-TN143D Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-OXLWQ9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3TQ35X Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-0YMV6K Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-BSV3IA Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-O4OA68 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-Y9XT6C Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-8YV6IG Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-S9XNS1 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-RF9034 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-WFIAR6 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-GSV6DB Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-B4JBE3 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-KOJZ8S Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-4FUWTM Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6BIR3L Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-8E88QX Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-MDTODL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-2ZG7WS Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-AVWL5L Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-4GYM55 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-AE2L52 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-V2NQQ0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-EHSB8X Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-J1F07H Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-1ZOFYN Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-PH6546 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-33ZI24 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-F4X21C Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-IMW1Y0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-43QIDL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-TEBLH2 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-G3QDDG Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-M3BN7S Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-J2LEOF Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-RHA5L3 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-WSFYH1 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-5NFYXF Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-TJM27Q Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-SA3GZ9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-PQ02QS Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-U20RTY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-XC062Z Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-OJXRNV Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-YP4ZLY Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-PJCA2K Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6932HJ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3UB0UO Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-MQGWL7 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-EH4MDN Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-O6QMXR Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-NHH52B Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-Y9NA5P Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FEZGDI Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-VI5Y5V Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-XO7EDJ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FYK3ZT Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6THABL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-IJHPDC Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-1BYTS4 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-X9CDAI Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-D6KVMF Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-55OQET Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-03TJEJ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-S57YBU Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-TTPYW0 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-KHHZSD Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-6Y7F3U Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-IFO2CH Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-P9BOF9 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-Q58NAG Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-EIHW58 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-HLU46H Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-2MVJJN Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-CVVFHS Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-98323L Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-N4VI01 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-EHU4PL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-M0SGX1 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-G0YHFA Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-K90EP6 Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-FTP3XL Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3LXVGZ Diffuse large B-cell lymphoma germinal center B-cell type 2A81 Cellosaurus C36080 TPD-3XHHTX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5XH0EA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BOY65K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CXR516 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0WKJEJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2LA86T Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XYL4L5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KXITQY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZZN4BE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KKZOW0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GFA97Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EH2I6I Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PTSXGR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UVUWNJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6OVBDR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NCNXCU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4879XC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KR9P9M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JYK5KB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-U22MOO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6RC7TJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-E5H24U Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Z68HVD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KQH4VJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5WWEEV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8VZ8W0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K10R7M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-X46UUY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YC7P0P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BFOEKU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TY5RTH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S86ANV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3QR5A8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RG4ZJU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9MOVR9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B9SZSM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XSRCBA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4UVSI4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MM48PT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QMGNA4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2OH7NP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TAX1UU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H1Z8GE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V2CC7W Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PJZAU4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QWTYYQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YWKWSR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ROTBMJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-U7B8JD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BWDB5O Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9KSXH2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FXZ0QA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EVTVIV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BCYN0V Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Z8WTMN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AUK5P8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XZ7535 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XE1QKE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H71B5B Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-55QU5L Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZRCJK3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DNZCPR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0LREBG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5UN166 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IEAAD5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I4KLIN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QBLMXE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TP75OG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DN09UB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UZSGEC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NA4EQC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Z3Z1Z9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4W3D30 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ETEC69 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-RWARID Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AB1B3H Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y16MKP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WGIG32 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-99ZEJA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S406R2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8MACRJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K2YUNM Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1YOFBE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GOBNPI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4ZHN4Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XKO3BX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NGOHQ3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B1VDSA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0CVG3E Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JLNENU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C5X9UG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y1N81B Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2QFODT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NUMPB4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-UGAAEO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OXPBIJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KK018M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PZYHR4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SIQA6C Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q9RG8Y Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3AKBJX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-818V6D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ET27IU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V9LOTK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YLK6HT Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-74P2QK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3MB0TH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LNMTSO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CZ52XK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ALQ6EY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MLNZSL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DAIGN6 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BW4NQB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K9AZ63 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-35WOIH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3R8FFG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EPYBXF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N5BGTO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0Z478W Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-757YAK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-W51OQJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AQG3FB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-X7H2UF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-P0UYNI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LN3R3J Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H64L67 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VG2GNZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6B276H Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7CHQKE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZBJ15A Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I9E2TC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8M7W91 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9IOJW9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8UO8W9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6JOMTX Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3GECMO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-P2T5KS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6GUO9N Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6SMNSQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0D2NGD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NSH27W Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-45AFBG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-DU0YSJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Z8K8N5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SI5W5I Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6B425C Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-V4AMV8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QAYYN7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GEKBP4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7EHRSF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-88U1TW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5ZFNLK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XR9D6F Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YIIFSA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QNFHO8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GMPMQQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AP7RHE Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LFYMNF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZUKNF3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-JDJ0S8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-B6K6O4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0LTWMZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2N6N0Q Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-PV880P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0CXJZO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6SL8QF Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9PUK7K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-S9HMIL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GZUK0T Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LEZQ96 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7C6YWH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3RA0SV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CNUN15 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SI3CI4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7KKO3P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-60YR05 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8HEQWI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HMUNZ0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HLDS2R Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3MMO6M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CX8YHS Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FELIUL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NBM2XO Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IAS91E Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9GFGOZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-8QRKFL Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OW8JHZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-AIR1IY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-53R9N7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ABBCY4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IKTC4Z Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NVIB93 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IAHFPP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-YTKW85 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0W744A Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-9EDE2M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-VE8G6S Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C7M8FD Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WFR1JV Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1E2LLY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-NTMV3M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CAAR99 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CRDALY Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-R46LA3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C1ADGQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GH5YLB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0VV4SQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QTD8Y2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1BTVXI Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-I0V819 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-7I7AB1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GB07OC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-K2LLGQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-XMDLJP Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6PDMRU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OBM1CJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EA22J0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IDSVVU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FDT2J8 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KW7XSH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-H3BSTJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Y2IWSB Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N6UOT7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-144VFG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-12VB7D Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-Q5RGQK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-KEQQSZ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-TZHY29 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SO808H Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WTDW5K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-SXG1M1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HZ6XGN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ANX3PW Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-HSGB66 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OAMKCR Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-WQMDR5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6NB2PQ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-X0Q962 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-57TDPH Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZHP4MA Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C8SVCU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-MF6CL0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OGGYM3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-4BCV9K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-5TEZWG Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-013DLN Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-QJMG1U Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-U06O6H Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IRYBWU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-0PPBFJ Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-R9H567 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6KWEN3 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZS4JX4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-N74AWU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-FDOKKC Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-13B8QU Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-J877W4 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-F9FA2N Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-CD7E23 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-L55IK1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-OOTOI7 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-EYBXM0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-GZYPYK Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-3CW4M9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-J5LES1 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ITQ38R Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2LWEY9 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-IHX8W2 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-6JMKW5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-C7019M Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-ZIAF2P Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-BLSD4Q Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-29EDS5 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-1C2RV0 Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-LRZT2K Minimally invasive lung adenocarcinoma 2C25.0 Cellosaurus C2923 TPD-2UN1RU Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-KRMQCJ Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-G5VJ0C Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-PKPKGM Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-ZP71MA Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-EW05DO Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-I8DEMX Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-1GUIKN Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-3CYAL2 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-DT2OFM Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-JIY8V7 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-OS3T1J Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-TVBT13 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-FBH3OH Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-QWT9EL Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-4X35DT Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-PKDI3W Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-01E67F Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-8LKJXS Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-C31VQV Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-E6B6YH Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-FWIBTM Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-8K0O8T Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-AI4FTL Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-PQVQUK Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-GQ7KAX Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-ZB5KH5 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-QD40BT Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-VGPZLG Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-T6TCFY Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-V7I2WM Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-K56VML Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-6OJA3R Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-9FS2K7 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-ROJWC3 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-CB461N Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-OMKS0Z Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-6RLL4D Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-O9G3ZB Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-7KZ6LE Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-AKAEQ5 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-Q0GL7U Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-PPJMKT Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-HEM71P Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-R97O5I Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-Z06K1K Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-QTS3OL Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-7XE4D9 Pancreatic adenocarcinoma 2C10.0 Cellosaurus C8294 TPD-HDR8DR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9ROWSY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DGK6M9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5XAALX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-X0PWQP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RDB6ER Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-T6OSGN Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QHYM7Q Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8YPO9C Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-UA4LNK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-261DWQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-A3EJ8F Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-UEBV5L Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Q0R2ZC Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VVPEWF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1TS0NP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XEEYBI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3VPEXG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Q7HW45 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4EZYIA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-UGWULZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VF0I1E Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5BBMDT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9FFMGU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-86DZC3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZC9RJX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Z7LMA1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-YNYH3W Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DKJ4PJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XCTCV9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ASU6WY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9M4EVY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VCS18D Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QM9IFR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1ZW5LF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-R0UV2X Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SOE3UI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZRRDQV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CPBZ6R Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BQ150D Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9XSJ8Y Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DLT0T4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-R83R2R Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OGBO1S Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-G187XP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8U29S2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AEL6U8 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-6CN5HD Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-MF6BEJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SL69LM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TIT6MP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4P8A8G Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SQ41HW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-K1YMW6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5JK9OV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IQ9QFJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-6TXT5H Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DBOTW7 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-45W0ZN Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BAOSIP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XGNEWB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WT5HGI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-M9LBJB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RSNXU1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-005PQR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TIB6JP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OCUDME Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GISOXX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-V4V8YB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TKWPHA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-M2ID1P Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4KRR41 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1K1U33 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-K83UI7 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GR2BW3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RUAH9S Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ERHOYL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-G14E0Y Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-YA70J0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VTPRUE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-89LDO2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HL1H74 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-YH8VNE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZRAHP5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HSD4RG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-0RBGDP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GH6UYR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OYIDEO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-D3BAW4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-I55PYG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-G186BO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-23R6B6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-T8QRS2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4HBOOA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GLY2LJ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PXHAZW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-6JM77B Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-D7370B Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VKVQKV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-MU7CNG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SISUK9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OFIZQT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7LUWTX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CZI6E9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CA9NAR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7390S0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FYY7RL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FCKVJ7 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KFM8G9 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3BE5HP Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RB60PB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PYS8FN Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-X6NZ4Z Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TUTWRI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-LP0LTC Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TZOZ67 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PZPSKU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-63ERXV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4LEJ1T Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WWI61E Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-E2KJE6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1NMN8F Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WD13Y3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-01NOZS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VIYJZU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9L9W1I Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-U7UOGY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N0F07F Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HFP3MW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-MTDCZF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3DXNQ4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AEPZI2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-NFLJJL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XBHDJU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-EMOYYL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OC5C4D Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CHDJSH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WPVVWX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-16RAKZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5QMCZN Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Q7MMVY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-WPNWGI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DNO862 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-I3N42E Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VBFMMV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AO3QCR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1MFXJZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-TFWHNY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IOKZSZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AAA3ND Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7FIWIT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-444A25 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-8VR9J6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-EQQB3Y Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4W1N2P Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-A0EJAW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XA4ENY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-NDORSN Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PVMTFT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-OGINSV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ABZ486 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9O5PO3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N6NZ3G Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZVPYY4 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FA2EUQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VB3ZQ0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5IOSWT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N9FBAC Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-CNGNH2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-O7MOER Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-58IT12 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-C5YFVD Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-FWJAE3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-C5D1EK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-JDG9MM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QM115D Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1HPEBX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HBLGRK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Q7SAM2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GNHMBV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ABNWQU Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RHMXGL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Q6LEZ6 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XETW0K Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BF9EO8 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-I4L9NA Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-E9BESW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AMNFTF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-VSB4VF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-KIIN77 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-I3P1DZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-H1T1IQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7V29I5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-T5GEQ0 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9EKMBR Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-G4PQAS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-L55472 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-INIARF Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5G6AE3 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XKP2BH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-A9P1X2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-48D0MW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9UIYUG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HWXGHY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PT1KNC Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-9DSXA7 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-S5F3K5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HEZ5J8 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-0KOO23 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QM7QN8 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GMUPSD Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7JM3MK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3VNEDZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZEBP8P Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-R4A41F Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-PNVLIV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7Y1SXL Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-1S65YG Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QHWSEE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-JE3RT2 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-HGRHAX Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-B926Y8 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-6T9M2D Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BAM6IS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-U8H5PK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DII5OI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-4BXAM1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BHA336 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-0XIA1L Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-GCYZ75 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-2UWUDE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RHHPGM Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-RPJTOK Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-22WAUW Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-7PU7GS Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IRHHK5 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-XYEPCO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-IS2FPE Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-K8CGLH Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-P5FH0I Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-5PL934 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-Z82P8C Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-183QCO Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-DFTQOY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-SBG8CB Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-BNWB8J Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-ZLEYU1 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-91E982 Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QSBV6E Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-N99M9A Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-S02GRI Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-QXSHWQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-2MR0CZ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-S55QZV Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-0GF9AQ Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-3JWNUY Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-UFQ5FT Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-S4ZQ6F Colon adenocarcinoma 2B90.Y Cellosaurus C4349 TPD-AUWDCY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I9340T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q1FUBU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-26E6ST Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-69FUS0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZEB4HO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KE275T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3DKFS6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YM3LZU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D4UHO1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LP87G8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YUW156 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D6QAH6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G13744 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U9TE5R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SJZTMO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R0OU89 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XJZ0A3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9HJ9DU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YJANWL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9JSNF4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3FRJLE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O034XS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SNRLIM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RICQG7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0D7HA6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RPJO2Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1EA7I4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GN8Q57 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FGNFJE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MWBNWL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W7NU71 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LZLTCM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MHG1M6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RLR8JN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-233AVI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I98LU2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KDTK7J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G3RAJA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MA9RFQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T91S51 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EVPIUI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MUTYBF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EVIPTH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0I6DE8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T3WS99 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8BM51G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6UXYRY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TJA1EE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GZ5YAD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0RHO40 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-17PDWZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FGH1BT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KMHXV5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0Q7VRZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C16ZT9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CWWC5B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z5MVUZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V8MZIO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DED6WQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HTUHQU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8DWL4C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DC21MU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OSMM8E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XK0AMS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5QCKLN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SNF2EZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-61JYM8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PKV8DW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XTL94C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4MFXFS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5GOYF5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K1HHXQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-82TSZH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z9P0W1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YJJ99X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-61RMU5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HPV8AU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FE8BB1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7LV4R0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3XS9YX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ENI833 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9EZ7S3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P0SUC7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ADLPNZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HOWZ9N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6HJXBA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AM37AF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MM5LR1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5IQ3W5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FHH3TU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1PKMU8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R7ULCX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-29E6C9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S3HH0Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SX78TO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0Q5KJT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GOH8E5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AFKFV9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P4POM3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SNIT29 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J0SMPG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q97FQE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DBHJ9E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5ULVAY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KJQIFQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G9II0W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IWXSAN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IJZLI8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-694Z42 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C5EEED Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-321JYB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-25N404 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ODX3PN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DDLO3O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9HLXMV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R5R1WM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QB5KEI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4ZVJBG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4SQHTH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2XX431 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZZ18MF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MEYHJR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9NB1V8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FH408O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IGNMJL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q071TY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KX5SJ3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YILHH8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CJO7YG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BFA1BI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KX36M0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-69R49M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BR9FK5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y9CDFN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XSQOTI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GPTZER Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1JR1NR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZNVFZS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0JRVAI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BF4ZVA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PRG6CB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0ZP30J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I3UH4M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EEFMKX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-294AAJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6AN6RR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M7W2EB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z8K8Z7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-517O2K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HW75UE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XJMX02 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MH3BO1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7V5LV7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F6PH2K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F4KF61 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AZFR9H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZFJPM2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H5S9C8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MCDFQT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-62UOK7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YL10PI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TV078A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YAPZB1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OB154R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3ISWAD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OSR0HP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WPV1LT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XT1Y55 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T7AXM4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PT6Q56 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TQJTBQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R963A0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CLCQSZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1LQTYU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TMJ655 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZN3CXG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0WPCNK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-06VM69 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D180UH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WVDAGX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D5EE4F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IES75Z Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XKOEJO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O5UMUE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VPKM4W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GVHIPN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MMMA0Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MTV03W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZYSR1W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7NWKDG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NAT7V2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LZDYM6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V152NC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GRYFLT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PQ6LID Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SCNZVG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GL06L5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DUK14W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6SH68A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-27OWZV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JFX72R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BJKFWC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3UXH3G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YUHWK7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RKV9WS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X4R7D8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XV6NTW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6MZ8JS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QY5Q1B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9BRQVG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YKVB7I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OK1J70 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-48ILJZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-II4LMW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FRF58D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-99C2QX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R82EML Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O85564 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-61DABQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U03ED7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X1U5GP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5DDS3Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IX44SP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GQYCUO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SA5JWC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UOJ4ZC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PFG5FV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UP3O8V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L1XRR1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0AY0I6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q9EAGB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BN625B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1GA5CJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CD5L4Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XTLV6O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H31F3F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-59CZ66 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-72PVIH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0PDE4D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0WADC4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V1UQF9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z90RG9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IA5MAQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BI7K6O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NHRLXC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QDZKW8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZVKGWI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-94RRGV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EKCEIL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SC11NY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MQONB9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8DOI13 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OPIF2K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DK9RO1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S25OK6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A290F6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CIIFRC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JICBL2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B42X4T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LPHLK4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S4ROO7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OUD2F7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O1UINP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B754VH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UME1HT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AIR7BI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HJJNJ0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SIHQP5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BLQSSQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T1LA3Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-25EMG6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PN97KF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TYBSAG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UKNHMK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FLR1VB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BMT4NS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2BG8FA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UGTRIS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8UM9FE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XJ6J54 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I1Z9DW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C8X74K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1D1VRO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LO3LVS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NLVPWS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K04O2S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PWC16X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V7TYZH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VIK2GT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5QLO5P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OAA5DN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ABPIYS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z11TTM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CCKAPO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1ZQQM3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OTR932 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AL503U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RW1AEN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H6IV9V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L50P84 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-05JIT8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9SMP5V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UECBLN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AO7Z6P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YQOLGW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TEY6AU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VN6JZ3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3O9Y8X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2TK7O6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SD06T0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-06KROW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FSFTJU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JGUI7N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MVPF5U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OWVGGV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q3K2HN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AIIKFT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MRBKKK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XADWDG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EUU3FP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OQP1S6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DNBQM5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X09P6O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IKL6TD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ULPLW2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A6LX5V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QSRGDE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4FA5DQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1816HA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5GCS8E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L6XAFJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CREMPE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1CAHL3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PB3195 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AFNC5V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SMGP7M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QDSUIS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MCPENM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FB01AJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0MLT6L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YJIKK4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KQOIAH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EKE08Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2SNXC4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UH22ZN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8TMAFP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N4U6TT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-96I27S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BF40HK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CNAQU6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XFXYKJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CNCMLX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6TX9FB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LZKLDD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DL1VIT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PVU2SB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XK5AKM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NBY8JE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-95799B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0T2HRH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YMTA9F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QLUK3D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AE7K3C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EALAOM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YDII27 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-894GEZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F9B834 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KFHXD8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0PXFUV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-STQAN8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SFJ8FM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TVVNH0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1YZ24I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1HZYBC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9P5LXL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5LJA8L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YCMWU3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UHAWWZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C1IERN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QY04QH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-570I5N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RSCIHI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UQ6AYR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MWBSOZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZURIU4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CLTDE2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S2GIYM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AO0F5E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XQG2NF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FS88J7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T4EXHS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9N60HD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O4TSYS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EGEBVL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JHVDO7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-45VYEK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H476TB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YWJMR8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M5N0E6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-38RUGX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PK8X21 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MDVLC2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I0RMNV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R000O1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R4YPMJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8XCOSH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9KK8VX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZK20M9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2JKSGQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IH96HJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7Y7FK9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YZQT2S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NM316B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0BX4BQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7EDRMF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RAJ0E0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0VJSAA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0XW9WT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CZVO2E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WR7NDP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O3T5C8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4SHHXD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OT3D8O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5UALFP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4MIDRN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-204GEE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8B0F7P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZGE92C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8A8G6W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2KBT4K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0YXV0F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S777RS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X788FF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CFTKQF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OSL9PX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TQLABD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IBXB1E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NTMYRY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0SX6IF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CU5UQD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MU0KVK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9ULC6A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PCQMSM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XK3ZI6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8OI1JP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-16UOBC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5MGBLO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5Z9NNB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U7MCG5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H1BFY0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-COE74A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NTYKPW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SAFMPG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-73RYBX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YU4S7I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QVOJAY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PBL2IK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6DQEZA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QWZHWZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1WT0A0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GLHVW3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3LH6TB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S15SUM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K7N9FF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-89843P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0Y6M1X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NW5GPR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-25YI0W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YCS3CX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C6BJO7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MRGUS4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YCYGTP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QMJR2N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QVXQKN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6AUBKE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-96YDP9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LVJZX7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MVJMTI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4305VM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7GXYK7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U00FNA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2I1VRL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1SSLFJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BPRG2K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KJH70S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z5FZNU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8VTOV2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UPN229 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HXDGGS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HB2BIU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TDVRN5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F7GA9T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B4RPBA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DFD7XZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EX6LJM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B80ODV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-USQXNW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-40469G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IE3EZH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VWH3ND Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ADVQKO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B9HSW7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R7VI8H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S956HM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2SZHBJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KYC0LU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1OLW70 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-28OJT2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TE3EIK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D61CIB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PFWD9M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ICZA1U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CRPSX6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GT89OF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R3BBIN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CUVUAV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BFU8XQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GEXC5E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O17H7F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I772S8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ODODF6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XF67I3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0WXEWF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IV4FJK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CF2HP4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-621ZMV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C56CDX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FUNFXB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HV1JYP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J41XFQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VKT01B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TPQB2G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-04Q0EN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9IICDJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W0J3E5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-229EOM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VUAA2D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GDQRAW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LYLY37 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-568UNP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QCI18W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RA5CVV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DYA594 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B63XJU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TTN51N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E2Y14C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IEBFDH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-74XKFD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O4YAHW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NNYLVT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2EJ1YV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CGVEO8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9X7OSF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3ZPZ2Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RJDRNM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0TDIHX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RCC7AS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V6RYOO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MMW5OF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I4BCEN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9CGZCY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7EUDMV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-79RWN2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KD5K8X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OLA3WF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WTUHAH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NYWKKZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EALEME Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3MA94O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T0WFZ2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T1Z292 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HQYBE5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A42EA4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6Q1RXE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0U0Z0H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L8V8GK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4OWT58 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2VSQQC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MYBWMK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0DSKH5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YK3D01 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F7OZXS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DXUA5E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RQK7SR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8THSYQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F120W4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KHK46J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HCA597 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-62NOJS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TUA9KG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JBZZHA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RCVACX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HK1ZT0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K5ORG7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2NCJB6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A8ONI9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C1ZDXQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-83B8MM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H19NZR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V1AD0P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HV0M8P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FLZ93D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TTEZCR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FOKUYO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IINWNR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AL8W3O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WP1OHT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-974TV0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WTK3OJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ATWVMX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E9QA8V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LVXERQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CJE6D1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RI444E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8NINNM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FQWEX1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-69JZ37 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DA69NT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SMZF86 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0WOBVO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MJM6BS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IFWGM7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7D4XYL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ALEYTK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KUKU7S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-27STP8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M5WJL5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PLJMG5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7HVXML Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SRX7RV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OXO4Y1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9G3ASD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-56XABI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DJ2C51 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YFSVAP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9PPEQC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WX2QNI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-07VA8M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3I85QH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JA9QOD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TU3I4J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W4F3AM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AHQ3CR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IVN2VA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1FP2DJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LRPYC7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ND1HSE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ID0OES Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UQXY6S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2AWUPM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-93C97G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ETQ1X3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZOOR07 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2TD8FA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9659O7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N6DNMS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MRSHGR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SIZXBT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DIC546 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EATDKZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WY4ELP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6X9QXP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y6RI4R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-17J5GA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7SNPVV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WZ6JLE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VQP6EI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ESF97E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1QYK39 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L459X8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7LNS29 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5S1BLF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5VAX2P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LHUEXF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WBKFSR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QU2J07 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0J7VAG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CRM3DN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZRKZMC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CDG3Y8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DZ4HIW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z49J39 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BWBBZA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I1LOAT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5NEQGE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WAEH3E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N7LBQE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AG8EQH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KGKZO8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DJ5JN1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4647VG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RVUCQF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PMJEUL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AS35U1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-68RN3R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W7EBL3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FI8LH1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1469V0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-47GN5D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W0LYAE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SM5QPK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0C96HH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z6M7XN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0IHSWM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GZFYIW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EUVFT5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-79HICP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UHH58Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9TY9ZE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-933Q8D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JU9KGQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K5PS83 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PIMTVZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3T9JNZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BK5DKF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YTA7QZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QHDMP2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QTPN01 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GR2GZ4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DX4W8O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VUGZE2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2UTXJE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3A1GTX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-49XD5O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8L5VJ3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3SO8EU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-08LETR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2PB2PD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CSDGK7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U6813J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-47HWAU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KNQGCT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0RZF1F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UA318H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3649V5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4PZHXV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J43LVS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LS5KMO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-897PCM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BVULWL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-76BUYV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z6TK5R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W9BQVS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MMUGH7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BO7TTD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SEB7LB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HDX1UJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O58XJP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8A81W8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VD8OO5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6W5ICK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PBN63Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OKYSZ4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KNJ3CZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BWWHD4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C6WJ0P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8FBKV5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-S0XE43 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DS1BKI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-68XZD0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BKSZ6G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HCH4JN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y1E4S5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YQHGI1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OK3HOY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KNFYKA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AH227H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-24DQAO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1R3EJC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BD8L8V Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VCW9NA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9FVYQI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-U02QNJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VDNLM9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FSJWOA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H6RUU4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6KUIM8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K9QICT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OP1B37 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P9ZA6N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VC2XZG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WFR99C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QIZTRK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0K91VU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UD6SQJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BRSP09 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V52N6M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-53OQMW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I46JYR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-P6OL2T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GTH0A1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6EDJUT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-10MOD9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AREUJG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R75DGE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W0MZP5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LXX6YL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-98AXB2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2R8PV8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MBG2D1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4OIEMO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7TYBO3 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-54X7OS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UXDZJ4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8PFXKF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MRTCER Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YT8HXC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0R0R72 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KFSG64 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-64HV8Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-O52QEB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TUEHVB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BYKAGH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AQOE7N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4DYOKX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2UHP1Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J0T9QL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GXT89C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2WW4VR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-C4R3PC Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-I1917C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XA8DE9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SI83GQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-USMVP6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BP6PZM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DP7VJ0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CPRI7H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D2BBUG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XATKGV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-X4XXI6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E9F7PU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HTCTRG Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GA9FX5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7TOBRE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JFVKRF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BGHHO6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G3QNBI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AM5H3L Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Y76XZZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SM01DD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8O38Z2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AR6980 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1XHYB7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G8HOYY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8KWBKB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QPN4RO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IPOYSE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-66YCEW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7EQDMQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-L4O28P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4R1BFA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SUJY1F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-F2TK3A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SKIE0R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DHWH3C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5Y8HJ8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RP726D Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FWCAIX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T9KP9Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JB2ZA1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T2O5G0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PCORJ9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-CATR4F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-53J7Q8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7BR5RJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9STXLD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RBJ6F5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RHB1YD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-T91ICM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5WT8QP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KER110 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PFFLXK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FBIGBX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-295J6N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HWHFDH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3SEZQA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YALVB9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7XDBWE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-W2QBTO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WJIM6M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J6AV0R Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MU44Y5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3YFDA6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7AZZ06 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-XUX8I0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5YUT8P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E530IR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MYY1LJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-HA3HD7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0P6PB9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D4S8OF Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OE62FM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-4PF81J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-YW2W5X Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1NR07Y Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MRJESV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-38TUF9 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PBS359 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q2HITS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5YW9VV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M75T8G Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-B3QTZB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-8IZ0Q8 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AP0FXT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5NF1IL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M62PS6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SKT58H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-M1HCCT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-FM4P9I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-63BXGU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DXX0VK Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BD7EK2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-38KNH2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-V1QZT5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PW59M0 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JT49NN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PXED6S Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3JCTR7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VNEHUV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-87JLYN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NQNV7U Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RJD0LZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G98HK5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H0S19N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-N7CI0W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-62DYWI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E3QWYT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-A32PRB Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D18KX7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GH0EJ1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-G8586A Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-BQ7ZOX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IBSA98 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AFMSMH Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0KQBOQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-25G3RN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-DL107W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LRC5YO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IQS5CQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R6RM0P Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0EUBU4 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IJZSFU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0VGZPN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MSASQE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TDEKKD Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UPLSVI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZUBUWV Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-1T0QEO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-36RIF2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-7338LU Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-9E4OQN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WM9IN6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VVU5C2 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-50D6UL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-32LR5Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WKW6RY Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5YHG7T Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TQE3UN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-31TU8Q Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TM6QLN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MLLZ5C Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GLH23K Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MAT2X5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0R6WFA Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-VUMGTJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K44NNT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MQ0KFQ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-MU9R9F Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-0YVQP7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-TZZ65H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-87I8QM Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-GXOGG5 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-QMH392 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-72J82N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-3CG5MS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-JPI08E Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-KIRA2B Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-2X3C8I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ICDVR7 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5OI53I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-H2JI0N Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-AC0JVL Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Z8M6B6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q9QKYN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-R3A9BX Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-5Z1D8J Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-UCN9QS Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-IHPQNE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-Q284CE Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-WUE78M Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-ZUKZZ1 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LWCRR6 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-68IFFP Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-6RZBSZ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-PK2ZQJ Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-J25QHR Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-LNIE9O Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-EF6P6I Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-E7Y3TI Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-RG8D34 Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-D0RCHW Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OYNAOO Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-SY8CCT Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-US816W Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-OZ629H Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-K49KSN Invasive breast carcinoma of no special type 2C61.0 Cellosaurus C4194 TPD-NNKN2W Bladder carcinoma 2C94.Y Cellosaurus C4912 TPD-Z7GNMT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KHA99P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-THB87U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FJIIQD Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UC6HTY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OEYD1A Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8G0NZN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FWSKSI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A3PBCX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ND0W2P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-48GVQP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y2DF95 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G8ZC41 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ETKOOU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZSIOAF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MMU82V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JDL4C9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-907B5D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QIHRYY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UXMMPZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CX4IK8 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J8WPWV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0RK4YX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IIBCFL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-66CMVH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-O56OJB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-3F386C Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BAY5FQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RWX9XZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BLQMSV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1DIW1Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-5UI842 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SKPZF9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T2Z0GA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4FGHOT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-988EH4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-AEWO72 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GMEBA5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EE7UXR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6S3MVO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-MKARL5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Z84OR6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-V8J3RN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9OTH6W Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-8CI1PN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9GXK66 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K61E4B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-A6D11Y Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YM5BL6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XIIHCV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YDZ6E0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C838T7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NZXO2V Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-386PPX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-97J7SI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GRYCMW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-YLINKF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UWNFQ9 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-51W0GW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DGZSLH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IQMFBY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-REXWOT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BD92SX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-44ZHUO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RVJXY2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LOP1D3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-XZQROY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-D4KEJO Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-4Q0OWR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6MKE64 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9NDL04 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DECEQF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-12XU93 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-16W1SL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-F5LAAI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6L5EKX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EJREOB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FJ1GFF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GHPWEZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EKGKWL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UX6XRF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-JCYN7N Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7PD554 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UD1WUV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ABI2ED Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SDNOYT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1GQCCF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-77837I Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S7MG7Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6QI5YL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EKPCRX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OX2V3Z Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-6UWHDK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T89WUU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2XWAEG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K3IYGI Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZXZ398 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VW4T2P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-EOTCME Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-FJHZ3P Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-G1GYIK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J2S35O Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DFFN7M Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-9JXZ7S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-04D8SU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GHONSZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-M6AH5J Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-BL00TC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-7TT5TN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-85XUGA Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CUX7I5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E2FDSP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K4FYET Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-793XT3 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-X25JDM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IEB7ER Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-N414WR Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0O4SU0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RDGLKM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CVJF7Q Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-59ZO0H Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KRVGZU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TW5C1L Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-W5R6AC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0GU8CZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-CV55FH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1S40DV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-2PV4CM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GEMWQS Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VYCSWX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UQRP5K Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-P3UNR5 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q0NW5R Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-E5KVVV Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-V54OIG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-I23FFL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-N1WFEP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VB4CDZ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-SP5N87 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WPUL0S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q0OACW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-OD9CLQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RKMCWG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-POXXVU Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-R08J55 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Y2QIQT Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-J18RN7 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-99K1Z0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-KSCNAH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-64HK2Z Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RO0JRL Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-GGARKW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-Q49XZM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-WQ7NNG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UZHWBB Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VQZ43B Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-V51HHY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PO2GE4 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-PB6UAW Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-VN00OX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-95XZDM Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-096V09 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IA6O5U Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-83LYO1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-0H20UG Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-C135OX Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LJSPHN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-U7BWWQ Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-QCF1E1 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-DF2N5D Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-IU0VYK Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-RDHTMN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-UVS853 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-NDRQ1S Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-S0FHNY Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-64VJHN Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZAE7Z2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-TCMXXF Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-K7F3BH Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-T5OPGC Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-LISID0 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-1FT2G6 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-L0GDB2 Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-H36FEP Childhood acute monocytic leukemia 2A60.34 Cellosaurus C9163 TPD-ZR06I6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EIAYD0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DJKXMF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y5MR4E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q2N9NM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ATN7U8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HDR8DR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9ROWSY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JID038 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G07JHJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0JIF10 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TM8077 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-C1TA2E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZJMPIP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VFYX60 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MU0B11 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y158Z5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UJ9L4F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DGK6M9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5XAALX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-X0PWQP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RDB6ER Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LE5ECE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E1IVF5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G9LRXD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PWUGYO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6FNKEF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PIP7CZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F2EBIC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CK6NV7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DC273Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NOKBMZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QDPV3V Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-R8XHGY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NWYELV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TDQ0VT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q7C68U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3XYN9C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2SFJRW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-V13JB9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E19Y1C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-38DQMS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BVTURY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZN0AX6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MFOOV9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1PDRJ3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9B6DM4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HOXLFN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6M9SJA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KBMGZ0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7GV0W6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YDT73C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OFA19E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4M0UHF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5HPRWD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3YFAKW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U606A8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-30WY6C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E5R1M4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TQN26T Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5JZUQ7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U6QK56 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-K89O95 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-N0GQDX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-89IG33 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GN1PPE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EQKVLT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZW3YZD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-A2ZBSQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ARM1UK Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6O1P9K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TZ49J3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GN3G8L Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F4FVY6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NXHFY3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XQ3J5R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MR50TK Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VLAT5H Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WBNB8B Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0IF6DK Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BXNBCH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1PHE6O Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y3Z06F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QK8QWO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VBS5FH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9G1R0T Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CPRX8Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y62IQ3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4Q018U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FTEVTA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-24OPD1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LZR6HD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-UXGRJW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-B3I4QX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TDOTF4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DKO6OG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-95641H Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RPOR54 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VDSU3X Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EYLQUD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SFAFK1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M2H8YC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-T4WNUV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y5HPPI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5OJK3E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KRI9CT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-00MKD6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3JKR2P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VCSMGW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HKO21Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RPAIFS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U2XQRY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OESHCQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XG5BSA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YA2U8Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M0KVMJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0PM9UB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZXDPCU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-94FIQD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MF2GJ9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4VNR4X Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WIYGP6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6PYZZL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FW64P4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8C66Y6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-W7JTC1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BH2BH9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M0VNUB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LM9LFQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DC8LIT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-60X0NB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4YOC6F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9Z79WK Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KL7Y1I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-U9YKZI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-K6VL61 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-K0YOI4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CS1E8E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QDXBTT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7J392T Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TTSDSU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-12FBZX Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-82L0V4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-420W5X Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XT4S7I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Z6AZHG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WD0TNT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9YW6W8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y6HVAL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P5OJ6K Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SBD5EF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SL9PU9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AZ96AL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SBJC3J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IQJIY5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F5AQKT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PQM8I7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FIWO8Y Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-I9KTY1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Z0G65I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1E53JD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EYNJXB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G33PHC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-92MVC8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-25X57G Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7VRDJG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-27TCG0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1BTTZP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AFZGWI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ACOAUW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QE7ZW2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0W7M1N Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ONQLFB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-B30O21 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YH2U1M Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G7TCNU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9H32M1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8BSYXG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-K2DJ6G Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KG3ROD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WDY5N9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BGCUTN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LILPF4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y4ODIZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GYSLII Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-A6WDLH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TIIISA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XXBD6E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NK7VFR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3VTYHA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-S8164J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Z0LVI6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EXPH3C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LB31M6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-73IENL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1K3IAD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-X63QHQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-H9ZDEO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-605JW7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QTKG7F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YRM8WT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-8W8Y6E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TC6UBY Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7SR6AF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-773QF3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1KS36P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5AOPV3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KBJBT3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-J6MU79 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E9ZMYM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6DDGGQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KV0GR5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OT4VE6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-66PL0A Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-J8XFB0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1ZPNWU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1QZGWG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GAM0P6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XF0D8P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-O399MR Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FI2JEZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YIAJVM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DZTTWF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3YI3C2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IGM43J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SXQ2DM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-MGW94W Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9L1GWD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5B8C72 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-16TTW6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KW4OLL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7DC14I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3RZ903 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BDOFWH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-66Q3LA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-I5A0MH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VER8MF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-94WOCI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-T78VAO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y0EOY4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4K9FOI Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2MRZD2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IA962T Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JVXONA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KFZY6G Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-I9J9Y4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FLZDB8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BQK2UO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9MLTB2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6E2VVO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0JSQ69 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9IREMU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VIVYSA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-B0OFU4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CKDRJF Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FTU75R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JMR026 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1ENR4H Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CG5C8F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y9I4FN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CAK7Y1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1R08AO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-97H4E2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QS3LIL Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-6626PZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QYAHYA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-L2GY11 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FEBIRJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-D32WV7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-92ULE7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-56VC57 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4LHB1J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q1T21C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EL6TWQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7DI00M Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-23N1IV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DMQFPD Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-89R3D9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TKBXMH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-R3AYM8 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BBP984 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Z43UYJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DF7H8J Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BZB89P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KU2P61 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FB0QKP Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M9WGF6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P3MG20 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-N7B5VC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-HBNXL0 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CU9MLQ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GLXTNU Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-88NCG4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KMI0F1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YKZPYT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-YTRU9O Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NSDZO7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9J77DO Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-51AC9Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-3KWDN9 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-15NHIB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1CSJHT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WM7KP3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GOGNN3 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5FAJJ6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WZW35U Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BX6PCZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-IG9773 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LGI7A6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-W0C5J1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SWCMQW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-FH5HOZ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-LR4S0Q Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GON90A Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-I5XVGH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-XMW1IA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1XSR4F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-BL3I3E Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZXVFY7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5J43PW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GSCZ4Z Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-EUYZ72 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-QONBJ5 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NRCMV1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7MB3BB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-JMT19G Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7R4MV6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-2P8H6R Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-SB7MTE Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-AI4ANA Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-5GUB3V Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GWS61C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-GTXBUT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WX2B81 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E0T6C4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ESYIJM Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-S8E77F Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CIFICV Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DVYYV2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E8N24M Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-41YII2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-G3SFDS Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-NLRMQ2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-TYZQFN Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Q7D0PG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-OVV52X Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-0SM67W Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-7S830T Plasma cell myeloma 2A83.1 Cellosaurus C3242 TPD-J5C2HB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-56ONXC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-4CIEOJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E2NWFC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ER35J7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-55B1DB Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-F7LSJ7 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-PPOVQ1 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1CWTDT Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-CPLM1P Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-36YV82 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-Y2Z1T2 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-P70P2I Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-1EVGJH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-RF2HK6 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ILLLK4 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-VK0VOJ Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-KZFC9C Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-DVISGW Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-WO5PLC Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-M1I471 Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-E2WUEH Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-ZFPXTG Diffuse large B-cell lymphoma activated B-cell type 2A81 Cellosaurus C36081 TPD-9Y0C12 Osteosarcoma 2B51 Cellosaurus C9145 TPD-3HGBX2 Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-7S830T Adult acute monocytic leukemia 2A60.34 Cellosaurus C8263 TPD-AVN0IQ Acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) GATA2, MECOM XH2KE3 Cellosaurus C82426 TPD-IWF3XD Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-ADNGPX Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-XGHYQA Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-4ZQKJP Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-W4XA96 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-DXKP1A Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-CTODPZ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-7K8VFN Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-G7E3JD Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-RMH490 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-ZAH07I Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-EBL4OH Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-AW9YU8 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-C2V1Y7 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-7AAF5Q Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-9H0VIN Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-9QFC0O Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-ID01JZ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-R7UJ38 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-853TQQ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-HZI0RC Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-GFQJC7 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-LIEC0C Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-8NZKCX Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-778UXY Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-B4BZOQ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-BXYB7G Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-AKW2AO Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-E3T5S9 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-9EUCF1 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-BL563T Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-IO0FHR Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-C09V2Z Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-RDOX1K Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-18OLFO Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-4MDVGV Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-VYBHI0 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-1US7QU Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-JD6YBJ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-6AKPBJ Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-ANOAL3 Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-Z0GUAL Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-C5HQ1X Renal pelvis carcinoma 2C91.0 Cellosaurus C6142 TPD-DGK6M9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5XAALX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X0PWQP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RDB6ER Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T6OSGN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LWEP3Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QHYM7Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8YPO9C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UA4LNK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-261DWQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A3EJ8F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UEBV5L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q0R2ZC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VVPEWF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1TS0NP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XEEYBI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3VPEXG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q7HW45 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q24CCD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4EZYIA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UGWULZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VF0I1E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5BBMDT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9FFMGU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-86DZC3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZC9RJX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z7LMA1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IYQZTE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YNYH3W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DKJ4PJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XCTCV9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BPCEXQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ASU6WY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9HYF0L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9M4EVY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VCS18D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QM9IFR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1ZW5LF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R0UV2X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SOE3UI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZRRDQV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CPBZ6R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6VMZRD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WRS8VZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YPTE64 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8Q7RWY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3VB0BW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GFYJDZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4ESIRA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0U5Y7I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2VIMGK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BUG8WV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-72057P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-19IDFY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LJ5WOO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8NNVVG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WR4JYM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XU8APD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SPS2A3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-68FO0Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3037X8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IXTYN8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PVDDQG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TU6DA8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MN4SLV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y582QR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2UBU1P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YPILVW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1AO5O4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LY70KV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z0AO4R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E9XXGH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PE186U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5Z60A6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0PCBE2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JZYZDM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LUQE9D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GCER6Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P76MFC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4UY5W0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1FVWDB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U5PEO8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IFY78A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AA9FCS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W9RSBE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-42LEKZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q2T40C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CNZX68 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PKRTMJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L2UFYU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RLS0YU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F0587S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KCYCGN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C6XWTD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P6BVC0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D5STU7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FUA2GW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X2DY75 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D0B2MH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DO829B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-98WXEQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1XVHGY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MU9855 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A7MV6F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0676SU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PV3Z7W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z27SFH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EJ6D6H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YGCVVZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-47VSV6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZZZVZR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8I5CTA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JJXSVI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RZM4T4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-67N5XN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MWZ2L6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7FU38Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IE89BZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6L3YR9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-85BEQ2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T260NU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-INBR8D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WC2T7H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GVG58P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1BSXY0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7425QN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2U0GZD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BZHXQ1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2UV6UF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WHCCDI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0T44J4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7PL83Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TLKSZW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2FCBYI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DFP7LI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HXZ0L5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UYPSXG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KS4M34 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AKB3B0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8237LF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OLAGO1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-96MJNA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TQV9S1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3528SC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O68RDE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T0D6JP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DMT53O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U8E4CR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q71E9X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JDIA8J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3GOXEE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4GLPP6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BGL4DB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MRSA7J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-12IWBC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RML06U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-59YST6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0B67MC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OVTIBW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NEVVR4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6TAO0V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LTL5WL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VRAANV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KHCDF0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2PFK0Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9UDHEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VKB8MH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PDSUCS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FXJH4V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G04ODZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FU92EU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RUVTG7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-39HCP1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IWRY4C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EIFGU4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KNZLME Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OMQQD6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EZ2Y6P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L4PQHY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DVZUVT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RLNUHD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VU3APV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R6Q0OA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XFRBBE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-11NTCP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D4SRVG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GMG1GY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GDAM5H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YR8EZE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4WQ6WK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MGF68W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0DEW1I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q3O34H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H0CK6E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T0BW8A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VHRJFR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EVT8K4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WD2CZT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2WI0HQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FRKOS1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-67CE7S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EWSR5G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ODDTC9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D8ZS65 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CSO8OT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JGEM76 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JRUH92 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A1Z0JU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PBA2FL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4FM4DV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1SNGJF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BLUBX2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C9A28Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E63Z0T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P5L1WN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6QSLM0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VPYNML Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T7YC4O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4UWFTT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L0C43V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U0WDPH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E6ENE6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CA4FY1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EB0BZ0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X36479 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XEP9JN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3QBJAM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S8NN7F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S5IPNM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ME4V7F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-55H4OP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CT45CL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NRTT0N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H9EA0U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9H5EF0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FE2QCH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z774RM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-47FHHB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8XGN7Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X3E7IA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KE9LAE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T4APVA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YA8NHG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZH4I3L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7H7HCO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9CO2CY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JQQ791 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S8BWQC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SGS5OG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6YBO46 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CTFZDC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UV8QUR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5FL7MZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8K9MDQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RSCY5A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0TRT9Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AB5GRD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V7XNF3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K9V8O0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NBL0W2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9YV0H8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4MSXTR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q34D7R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A56H4Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JPPR8X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2WZWM5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-100I4H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WCYNU2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B91PKG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-S6G1S2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PHODQO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q3A7IM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NNS0KX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J4VHCG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7H9K43 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E3G7AR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FFR1WJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J4L0VR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IPIVF3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G39ALE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3FAAO6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CH7GCI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VBIR8N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SHV6AX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D9ANRM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZAPBO7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-04OHF1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RS0CPY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YUHAYI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U48Y6X Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZH2NBR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0LKZ2L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M1COCA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GQZ125 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ROVPHS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VZ9A03 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K1DI8U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4AKYUL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GRPK5P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KWC0KG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BUPJH5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZVQRL7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BHF20W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4JZGIL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O3QGWL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O1CV2R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MFGRFP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0DKAI5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZF4JDQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FWMEOM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4HG6V0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D18GJU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-36H6KR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A1HHZ9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5OJXOA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FZUMRL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SW1CSL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LZQJNN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EFN1EL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8DZ5E0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y5I5HS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4R415U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U1BOPU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TXFJL8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D6A8NM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YIP31Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R0WA47 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JR4EE4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PH38JM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0B56X4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WJ3HUT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YJUCUP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O0IYZ2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1TY4EA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LR590C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SO0QLG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-71HTN0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XHWQPP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1VBYIN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6IHC7Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NO4QVK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VXQMFB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6Y6UY2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4KRMAB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IJQ3ZY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H21V2A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J16UYO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JD2MIX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZK3O8E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-91G6DX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3W6TMJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6LLZ5Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-97SYC6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E7Z03S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CARXOZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B5FCRT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PFY21G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-22GTR8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OTOY2N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-89ZKDY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O19Y2F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1C11XD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7985Y1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y7UAA2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N5MZX1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V2DYE1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DA3WDT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OR979Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VWXZ5L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DCJHBY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M8K59N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NDIQLO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TT4TVP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RGN9QJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IJLNK9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P5YII5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LRL8C9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R43G3B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LYDAOT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B5G8PK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V7F5ZR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VZ3QI2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P7PMYZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-88CF6W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8JLOAZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-37JDST Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VXA1LO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J6UUEV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XESGB7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7LOV3I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1J6ML7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AHOJP7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2NHWL9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U5H3OZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IJ3TPJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IKFCH0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NK0F92 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YBPR3I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XMDFK2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N3X2GM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2CUKWI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I501VU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U5J7I8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6O7TTS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IFB22Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2L30IC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BI8R73 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E8RZ8B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HQXDVW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E49WVD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YLZ3WT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3E5SF7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HEIPES Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7T15WK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6UZTQG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VAD4JD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O8TNYW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4F9GXD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-96ASB2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VK30I0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y8JFQP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ABR97V Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FLMX03 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7XWTCL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J1Q2ON Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J2H94T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4RUA55 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KJOIYT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0HYNL0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8IHFDP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6VUEY6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DKG85I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-57C15T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C2736L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GNKGFK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GDAQ1I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QX1866 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1PIJFF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-68B2PJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2CYM7K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9FY27U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SMI0WX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E7W07E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LNOU9Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZGYN7K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-20Z8J9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TG5IL4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0MS4XR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4WZPJ2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5U6R39 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2RUVG1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L385XI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3FJMRY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NOGXV7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SFP8DJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XREP05 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-87T0KV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SYL4EE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PH149A Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VM6XOY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7QNUUW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PUFYTZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IDQROL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O6YC4K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FUD6A9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CSB9VH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GAFVFL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z6EY2C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6REMJ9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZQJNLM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-37JB4E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XW1QEV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KFQ200 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3SEA4B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KS75ZP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4FC4TS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1OZCMH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K9PAKE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X6GMY0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XIO6OT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-563UWP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KKRA2T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H4E0GX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PRV0MU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N2YH6B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MB7E1T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9B7OKR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E1N1S7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1YKNHP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SUWXOM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F7T33C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OUDBRC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8VCN8K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WNT88M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-84YIUD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9XZ7DG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-D5DJF2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I0IH9I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XQ4GPP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DDD1P3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GJFWPX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SVCVP6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R5MK50 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SLD7UX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7RKOYK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P9N44N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EC6V2Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NIDDXM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1YMBM6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PMGP6I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N5I1IZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R9S5X4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YFETI4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SPEP7J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-75P0IW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0JSPQV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SQHKB1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EM17WY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EBWG5W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-90DLJP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E79KPH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CVM8QW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V8AX76 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DHSFYR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6CSZBL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TWZVOB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NGXZ8P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0T9EQL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JZJ7S7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VAG4R6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NIOCU4 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SKTYLJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IIK4BP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4OX28R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5GJ6X0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EYRX53 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OKR1GF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NAUIMS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5A9MQ7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U466YH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U4IVPQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8O2KLG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9YBGYT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZMVX41 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QWJGTK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TW6SRZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0QTXB2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0K8P80 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2MH2SI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GFUTG9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MEG385 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JMEW2R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TQVA57 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FTOY0H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I1N4W8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ENGGX1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OIQGGH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q3W2UY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BEWWHB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QUTGUO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EWX4QK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JNAV5R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FZ98TW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-53GJDJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TNANKJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PXQ8P6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8KN6SP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NZZGW5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BNDJCU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZCKEIQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OHNONC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EAQMRX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G7K3FY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RYXC7W Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SG3UMI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OA1EMI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-51CVC1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z4DDU7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EF4DRM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7BDL5P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6UIIEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3UGTYI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CNM166 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3EMNAP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1M1M28 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B71PJW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I99C77 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9FLRR7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XJDOL7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FYKCN1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NRE4RF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CM828Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O9HDRX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VOZIL6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SBNUOG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZQB8BR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YEEQXD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7TB7IH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5843VV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GTOWRD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A03QQ9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TYRB12 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-63NE76 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RN2ALH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H2KUCT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KTRHDN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-09S867 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3WL19K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZNYZI3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-241NSS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IPEKE2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-36TA33 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XPJW11 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1X8NMV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FJC0LO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M8M55G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TXSHDV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J9N7A2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K3XS9M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y48ASE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8Z7PGB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7OMC9Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1XP5E2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OYWID7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-93OJIO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-54YMX6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K0BHEK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U9KA8J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T1TPU8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3USL9Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YL2AAA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Q8ZXF2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B511PY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PHJVK3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZZ5Y51 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V0N747 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-55JSJX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RR36FH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HPVBHG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EA9915 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XES8LN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3FDLXK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3OHMNK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L4MVGG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0FMIDP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8QLHPU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KJFRCR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-URWP48 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PO9KEU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JE0JZ3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QZ903D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B5SZSC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7A97F8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CZK1IG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RJTBJO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-59DVDH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J0O32U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X9G04Z Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WPGRFO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KVR17M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6OB3ZR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H1HFWJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-437CDF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VC9ZVO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-X338IL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C3VKKU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PUB39B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2ECBWP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-J7L0VF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3UETE1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FLNNNN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XJYUBB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YQKZ5G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FE1H10 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IBFG50 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G5JXTF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CMMBHW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N382CP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-43SQL9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BBSGSH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UQVL71 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HN5I4C Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6W8KHC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MCHKPD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-F38UGC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5CGFWU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CCYPYI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GAUI8M Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TARBHZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DX0XP2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-9KOY6I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H75DYE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PFLK0D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2DU67U Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G2R3RB Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TRTK2K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-K9OR6N Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NV9PRO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-24K75B Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NQYRMU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FOTZH6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EKQMHM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XBNYQ1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-TGEI5P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5R4922 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DDL42O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CGPO5Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HY5TE1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OHD9FC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6UDSN3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QENPEC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z32HJR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-FTADPY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HB298H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BEBXAQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DXJXQ9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZEP93S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NDZM03 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7YX3P6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HJYEHI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5YPMGO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A8GP63 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YN2QQT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1BLT58 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-IOOOEQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C0U2VG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HTK65R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OPOYCK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RIO074 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8D9VYU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1M439P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W23EPT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1EPF22 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YVB1YT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ODCERZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OVMZXM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-62ZNEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0YS981 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R6L3SZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GMPK2P Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2LG5SX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Z8RFTC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GQ2RRS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-HIYMT5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B3QMH2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L0PC5I Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PEWHFN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UGQYOC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-VNF1WU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BHX2T2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O4OGEM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B8KIFN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-XHV8ED Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-B51V4Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-25VH4L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GLO7Y3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8N4QE2 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C2FCE8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-O48N7K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-T92TZJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-R704FJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SWX50O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1G1UYQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-E6GRXJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AALPXG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2TG1MX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-71Z4BD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-N8IF01 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GQS9LW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MUQW2K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BQEHUK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-0FIELA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JBP525 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NC43Z1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3SW0CR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-DAZ5P9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WCF77H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OE7QC8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CYU6D9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-KUVUOC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-23PZTC Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-U7Z593 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BIERVJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PO2I44 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W6HF2L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M750NL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1PKTVZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-EC5FVP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ABKAUZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GZ67CA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ELFCGU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1QM7ET Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YSYI4D Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YOZXFH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1BWN2S Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6LC7QH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P56T45 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RLP0EJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4TKS2R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-I9TNQF Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WDEAXX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LAYRP0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-L25PB0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-NS3RBR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AV4JV9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UW56VZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PZ6HI9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OW7KNE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GII9Z5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P9MLKN Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-A9MF5L Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2W62GL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5JHYJT Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-5FQPRZ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-G8RYET Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JENNOW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-W0SVOI Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LJUBB9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-8QGRAK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZZHLLD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-QKDTIA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-Y3HBOY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-UHCEBD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SC34OG Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C5QLY5 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6LNSGJ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZPA711 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-4XCF5K Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-362CDP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SFYJSX Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OOO22Y Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CTIRTE Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CC5W5G Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-3Q1UAM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-64GYE0 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-ZXFVBU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P4I55T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P4W63E Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JVZDK3 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7TPJJR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-H7ATR6 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-20GQEL Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-WZZLL7 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-GYYGY1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-OA553Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-7ZNX9J Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AL7ARM Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-1AFY66 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-MQ9WX8 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LVMLQV Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CX4LXK Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-STDA20 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-RX2E0O Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SLFAOR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-771MNU Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-65W42F Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-LAL0GY Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6JF9S1 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-6WGEDO Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CQTD5Q Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-C5BE3R Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YD7A6T Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-JYBCBW Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-AAR4FR Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-SAFKG9 Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-2E4AIS Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-BX4TMA Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-V1P3AH Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-PZHFZD Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-M5E79H Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-CWVEMP Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-YOEOBQ Prostate carcinoma 2C82.0 Cellosaurus C4863 TPD-P5MJV4 Mantle cell lymphoma 2A85.5 Cellosaurus C4337 TPD-2FKJHL Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-6VCCK1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-35VEV0 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-ECUACK Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-32V6SG Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-ZCBC57 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-P03N3P Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-J5P9GJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-Y43GDL Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-19QF8H Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-Y3E299 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-NV5WIZ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-H044TS Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-W2CVQL Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PCU2W2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TJJW8R Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-VK4WO8 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-1B638C Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-IP9NQU Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-L54W2O Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-MHWYHY Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-RXPYCI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-61T8A1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-DG2MWI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-LH3R81 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-6C1MTU Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-CPPM20 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8MWIGE Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TNP7IJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-XE8D7C Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-WWLKUM Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-EQOU54 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-I5P12Q Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-O8RNX2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-H4OO60 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-WBZQRH Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-M90VUJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-O05P7R Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-XILTN7 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-HOI4SL Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TGIKJA Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-69MVBG Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-DGORDS Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-OSZFW2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-MHQN66 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-HECKWP Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-WKFIM9 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-QFBW6S Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-247R54 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-HKMHVF Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-VI0KBX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-A4ECSW Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-JY6I5E Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-GWL0BV Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-VD1VQX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-95PH1L Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-KWIFE7 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-5TQLG1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PAQL7J Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PMPHX5 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-IRYJQW Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-QLGN9K Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-JNK8OD Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-7PGQFA Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-V7GBBP Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-101IGH Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-6PNR78 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-RKH4SJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-9QOLU9 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-2XWUF1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-UN8XN5 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-DMF9NX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-IK80I8 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-NE0M31 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TFXVGA Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-MRHKXN Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-NR4708 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-RPTWP2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-0TH3ER Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-97WCBI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-GOXY46 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TEI5DO Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-FG2FUJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-QQDT60 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-A5CQPR Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-GY0KNW Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-X7LVDT Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-JEN5W4 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-F1KEIU Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PZAEO9 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-EMYPFD Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-2VOJOZ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-IKONGU Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8SRTK1 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-RH9H8E Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-25G3QJ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-X1FA1V Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8IOBJN Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-DTANN2 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TWPWNI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-OI6YT3 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-M81BI5 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8V42YD Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TFA9WZ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-E9VMEL Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-LAM27X Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-ZJ31B3 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-2XZRVZ Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-EEOLWH Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-P4UX5T Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-GZ7315 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-MOYE41 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-NUPMTR Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-VUFTG4 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-W1XS5Z Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-A46X6O Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-16U0QF Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8W4CMH Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PU02GX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-4Y108M Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-4WZHYM Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-IZLD3S Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-ZWI19S Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-95SD74 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-SOA2EF Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-J90B98 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-ANZBVV Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-GXJLQE Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-Q47OVY Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PTWF7C Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-8YTENG Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-PU5HX7 Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-WQSRTN Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-UBTUDI Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-2QBOXX Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-EN6J9Q Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-1Z0C8N Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-TGKH4R Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-YM56TF Homozygous familial hypercholesterolemia 5C80.00 Orphanet 391665 TPD-04W1C4 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-05Q017 Constitutional megaloblastic anemia with severe neurologic disease 3A02.Y Orphanet 319651 TPD-0PGK2O Peters anomaly 9C61.42 Orphanet 708 TPD-0PGK2O Congenital glaucoma 9C61.40 Orphanet 98976 TPD-0PGK2O Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-0RP7MW Peters anomaly 9C61.42 Orphanet 708 TPD-0RP7MW Congenital glaucoma 9C61.40 Orphanet 98976 TPD-0RP7MW Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-11DXZN Peters anomaly 9C61.42 Orphanet 708 TPD-11DXZN Congenital glaucoma 9C61.40 Orphanet 98976 TPD-11DXZN Juvenile glaucoma 9C61.41 Orphanet 98977 TPD-1GGOKB Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1GGOKB Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1GGOKB Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1GGOKB Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1GGOKB Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1GGOKB Polycythemia vera 2A20.4 Orphanet 729 TPD-1GGOKB Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-1N1KXE Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1N1KXE Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1N1KXE Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1N1KXE Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1N1KXE Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1N1KXE Polycythemia vera 2A20.4 Orphanet 729 TPD-1N1KXE Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-1ON5W5 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1ON5W5 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1ON5W5 Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1ON5W5 Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1ON5W5 Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1ON5W5 Polycythemia vera 2A20.4 Orphanet 729 TPD-1ON5W5 Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-1Q6GFB Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1Q6GFB Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1Q6GFB Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1Q6GFB Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1Q6GFB Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1Q6GFB Polycythemia vera 2A20.4 Orphanet 729 TPD-1Q6GFB Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-1UHJGA Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1UHJGA Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1UHJGA Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1UHJGA Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1UHJGA Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1UHJGA Polycythemia vera 2A20.4 Orphanet 729 TPD-1UHJGA Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-1VJ9RL Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 4A00.2 Orphanet 574957 TPD-1VJ9RL Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-1VJ9RL Budd-Chiari syndrome DB98.5 Orphanet 131 TPD-1VJ9RL Essential thrombocythemia 3B63.1Z Orphanet 3318 TPD-1VJ9RL Primary myelofibrosis 2A20.2 Orphanet 824 TPD-1VJ9RL Polycythemia vera 2A20.4 Orphanet 729 TPD-1VJ9RL Familial thrombocytosis 3B63.0 Orphanet 71493 TPD-22GCC8 Retinitis pigmentosa 9B70 Orphanet 791 TPD-2DLEU2 Retinitis pigmentosa 9B70 Orphanet 791 TPD-2FOQWN Retinitis pigmentosa 9B70 Orphanet 791 TPD-2GTCYU Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-2GTCYU STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-2GTCYU Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-2GTCYU Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-2GTCYU T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-2GTCYU Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-2GTCYU Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-2HBB74 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-2HBB74 STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-2HBB74 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-2HBB74 Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-2HBB74 T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-2HBB74 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-2HBB74 Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-2MSKM0 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-2MSKM0 STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-2MSKM0 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-2MSKM0 Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-2MSKM0 T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-2MSKM0 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-2MSKM0 Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-2OZGKM Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-2OZGKM Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-2OZGKM Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2OZGKM Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2OZGKM Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-2OZGKM Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-2P0YAN Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-2P0YAN Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-2P0YAN Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2P0YAN Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2P0YAN Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-2P0YAN Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-2TE3Q0 Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-2TE3Q0 Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-2TE3Q0 Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-2TE3Q0 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-2TE3Q0 Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-2TE3Q0 Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-3625EW Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-3625EW Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-385K5Y Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-385K5Y Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-3A0F62 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3A0F62 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3A0F62 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3DQXJ3 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3DQXJ3 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3DQXJ3 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3I8DKX Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-3I8DKX Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-3I8DKX Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-3KDBRD Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-3KDBRD Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3KDBRD Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3KDBRD Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3KDBRD Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3KDBRD Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3KDBRD B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3KDBRD Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3KDBRD Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-3SP7WJ Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-3SP7WJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3SP7WJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3SP7WJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3SP7WJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3SP7WJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3SP7WJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3SP7WJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3SP7WJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-3X1Q5B Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-3X1Q5B Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-3X1Q5B Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-3X1Q5B Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-3X1Q5B Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-3X1Q5B Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-3X1Q5B B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-3X1Q5B Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-3X1Q5B Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-416BO3 Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-45FBJT Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-4C3QIB Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-4E3AIG Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-4FHXDG Distal 22q11.2 microdeletion syndrome LD44.NY Orphanet 261330 TPD-5E44I7 Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-5FDTGB Hereditary sensory and autonomic neuropathy type 4 8C21.2 Orphanet 642 TPD-5FDTGB Hereditary sensory and autonomic neuropathy type 5 8C21.3 Orphanet 64752 TPD-5FDTGB Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-5FDTGB Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-5FDTGB Infantile epileptic spasms syndrome 8A62.0 Orphanet 697160 TPD-5FDTGB Congenital mesoblastic nephroma 2C90.Y Orphanet 2665 TPD-5HUB73 Weaver syndrome LD2C Orphanet 3447 TPD-5HUB73 Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-5K5TC4 Weaver syndrome LD2C Orphanet 3447 TPD-5K5TC4 Endometrial stromal sarcoma 2B5C Orphanet 213711 TPD-5R4XSV Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-5R4XSV STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-5R4XSV Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-5R4XSV Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-5R4XSV T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-5R4XSV Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-5R4XSV Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-5RDTWD X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-5RDTWD Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-5SJ5F5 Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-5SJ5F5 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-5SJ5F5 Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-5SJ5F5 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-5SJ5F5 Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-5SJ5F5 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-5SJ5F5 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-5SJ5F5 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-5SJ5F5 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-5VBZUS Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-5Z69OJ Seckel syndrome LD24.D Orphanet 808 TPD-5Z69OJ Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-60X8GJ Seckel syndrome LD24.D Orphanet 808 TPD-60X8GJ Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-62729G Hirschsprung disease LB16.1 Orphanet 388 TPD-62729G Multiple endocrine neoplasia type 2B 2F7A.0 Orphanet 247709 TPD-62729G Multiple endocrine neoplasia type 2A 2F7A.0 Orphanet 247698 TPD-62729G Renal agenesis, bilateral LB30.00 Orphanet 1848 TPD-62729G Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-62729G Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-62729G Renal agenesis, unilateral LB30.00 Orphanet 93100 TPD-62729G Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-62729G Haddad syndrome LD2F.1Y Orphanet 99803 TPD-6I85WD Hirschsprung disease LB16.1 Orphanet 388 TPD-6I85WD Multiple endocrine neoplasia type 2B 2F7A.0 Orphanet 247709 TPD-6I85WD Multiple endocrine neoplasia type 2A 2F7A.0 Orphanet 247698 TPD-6I85WD Renal agenesis, bilateral LB30.00 Orphanet 1848 TPD-6I85WD Sporadic pheochromocytoma/secreting paraganglioma 5A75 Orphanet 276621 TPD-6I85WD Hereditary pheochromocytoma-paraganglioma 5A75 Orphanet 29072 TPD-6I85WD Renal agenesis, unilateral LB30.00 Orphanet 93100 TPD-6I85WD Isolated familial medullary thyroid carcinoma 2D10.4 Orphanet 99361 TPD-6I85WD Haddad syndrome LD2F.1Y Orphanet 99803 TPD-6SPER9 Werner syndrome LD2B Orphanet 902 TPD-6TDE0A Werner syndrome LD2B Orphanet 902 TPD-6TEJ0K Diamond-Blackfan anemia 3A60.1 Orphanet 124 TPD-6VY8QH Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-6VY8QH Crouzon syndrome LD24.G1 Orphanet 207 TPD-6VY8QH Apert syndrome LD24.G2 Orphanet 87 TPD-6VY8QH Familial scaphocephaly syndrome, McGillivray type LD24.GY Orphanet 168624 TPD-6VY8QH Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome LD27.0Y Orphanet 1555 TPD-6VY8QH Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-6VY8QH Pfeiffer syndrome type 3 LD24.G0 Orphanet 93260 TPD-6VY8QH Pfeiffer syndrome type 2 LD24.G0 Orphanet 93259 TPD-6VY8QH Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-6VY8QH Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis LD24.GY Orphanet 596008 TPD-77UIZ0 Saethre-Chotzen syndrome LD24.GY Orphanet 794 TPD-77UIZ0 Crouzon syndrome LD24.G1 Orphanet 207 TPD-77UIZ0 Apert syndrome LD24.G2 Orphanet 87 TPD-77UIZ0 Familial scaphocephaly syndrome, McGillivray type LD24.GY Orphanet 168624 TPD-77UIZ0 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome LD27.0Y Orphanet 1555 TPD-77UIZ0 Lacrimoauriculodentodigital syndrome LD27.0Y Orphanet 2363 TPD-77UIZ0 Pfeiffer syndrome type 3 LD24.G0 Orphanet 93260 TPD-77UIZ0 Pfeiffer syndrome type 2 LD24.G0 Orphanet 93259 TPD-77UIZ0 Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-77UIZ0 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis LD24.GY Orphanet 596008 TPD-792LVA Helicoid peripapillary chorioretinal degeneration 9B70 Orphanet 86813 TPD-7CBLT3 Helicoid peripapillary chorioretinal degeneration 9B70 Orphanet 86813 TPD-7K6DT8 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-7KS0JL Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-7PBYL1 Oligoarticular juvenile idiopathic arthritis FA24.0 Orphanet 85410 TPD-7PBYL1 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis FA24.1 Orphanet 85408 TPD-811VN3 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-811VN3 STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-811VN3 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-811VN3 Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-811VN3 T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-811VN3 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-811VN3 Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-82FK9I Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-82FK9I STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-82FK9I Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-82FK9I Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-82FK9I T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-82FK9I Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-82FK9I Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-89NA0G Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-89NA0G STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-89NA0G Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-89NA0G Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-89NA0G T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-89NA0G Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-89NA0G Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-8KJM6M Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-8KJM6M STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-8KJM6M Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-8KJM6M Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-8KJM6M T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-8KJM6M Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-8KJM6M Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-8T3RGR Lynch syndrome 2B90.Y Orphanet 144 TPD-8W7A35 Lynch syndrome 2B90.Y Orphanet 144 TPD-8WE7TG Lynch syndrome 2B90.Y Orphanet 144 TPD-97W5IF Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-97W5IF Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-97W5IF Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-97W5IF Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-9C53XQ Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-9C53XQ Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-9C53XQ Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-9C53XQ Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-9F3LRK Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-9F3LRK Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-9F3LRK Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-9F3LRK Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-9JYL49 Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-9JYL49 Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-9JYL49 Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-9JYL49 Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-9LQHLK Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-9LQHLK Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-9LQHLK Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-9LQHLK Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-A8UGWU Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-A8UGWU Non-hereditary retinoblastoma 2D02.2 Orphanet 357034 TPD-A8UGWU Hereditary retinoblastoma 2D02.2 Orphanet 357027 TPD-A8UGWU Feingold syndrome type 1 LD2F.1Y Orphanet 391641 TPD-BDGORK Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BHHCB7 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BQ1E8Z Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BQ2XJ6 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-BZO74I Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-BZO74I STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-BZO74I Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-BZO74I Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-BZO74I T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-BZO74I Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-BZO74I Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-BZO74I Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 4A00.2 Orphanet 319595 TPD-C0OM6T Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-C0OM6T STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-C0OM6T Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-C0OM6T Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-C0OM6T T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-C0OM6T Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-C0OM6T Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-C0OM6T Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 4A00.2 Orphanet 319595 TPD-C2M6JE Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-C2M6JE STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-C2M6JE Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-C2M6JE Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-C2M6JE T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-C2M6JE Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-C2M6JE Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-C2M6JE Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 4A00.2 Orphanet 319595 TPD-C6CDWQ X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-C6CDWQ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CEN42H X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CEN42H Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CH9LA2 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CH9LA2 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CIPZZM X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CIPZZM Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CTO7BY X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-CTO7BY Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-CYJZPS Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-CYJZPS Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-CYJZPS Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-CYJZPS Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-CYJZPS Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-CYJZPS Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-CYJZPS Semantic dementia 6D83 Orphanet 100069 TPD-CYJZPS Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-D94MHK Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-D94MHK Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-D94MHK Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-D94MHK Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-D94MHK Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-D94MHK Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-D94MHK Semantic dementia 6D83 Orphanet 100069 TPD-D94MHK Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DA9HOR Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-DA9HOR Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-DA9HOR Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-DA9HOR Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-DA9HOR Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-DA9HOR Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-DA9HOR Semantic dementia 6D83 Orphanet 100069 TPD-DA9HOR Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-DB3L10 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-DB3L10 Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-DGXHF7 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-DGXHF7 Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-DU6ONM Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-DU6ONM Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-DVKJC9 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-DVKJC9 Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-DXUP51 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-E0ILKN Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-E1VB0L Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-E2TCJT Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-E2YK33 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-E6O531 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-EBPGAT Noonan syndrome LD2F.15 Orphanet 648 TPD-EBPGAT Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EBPGAT Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EBPGAT Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EBPGAT Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EBPGAT Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EBPGAT Lynch syndrome 2B90.Y Orphanet 144 TPD-EBPGAT Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EBPGAT Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ECGPPX Noonan syndrome LD2F.15 Orphanet 648 TPD-ECGPPX Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ECGPPX Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ECGPPX Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ECGPPX Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ECGPPX Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ECGPPX Lynch syndrome 2B90.Y Orphanet 144 TPD-ECGPPX Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ECGPPX Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-EE5MZK Noonan syndrome LD2F.15 Orphanet 648 TPD-EE5MZK Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-EE5MZK Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-EE5MZK Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-EE5MZK Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-EE5MZK Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-EE5MZK Lynch syndrome 2B90.Y Orphanet 144 TPD-EE5MZK Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-EE5MZK Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-F1PPT3 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-F1PPT3 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-F2934C Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-F2934C Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-F5FVI3 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-F5FVI3 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-F6RN6J Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-F6RN6J Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-FI1G21 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-FI1G21 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-FR2WES Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-FRU3Y7 Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-FS1E8D Autosomal dominant non-syndromic intellectual disability LD90.Y Orphanet 178469 TPD-FU6I4W Noonan syndrome LD2F.15 Orphanet 648 TPD-FU6I4W Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FU6I4W Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FU6I4W Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FU6I4W Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FU6I4W Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FU6I4W Lynch syndrome 2B90.Y Orphanet 144 TPD-FU6I4W Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FU6I4W Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FVGQX1 Noonan syndrome LD2F.15 Orphanet 648 TPD-FVGQX1 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FVGQX1 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FVGQX1 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FVGQX1 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FVGQX1 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FVGQX1 Lynch syndrome 2B90.Y Orphanet 144 TPD-FVGQX1 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FVGQX1 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-FW0XJQ Noonan syndrome LD2F.15 Orphanet 648 TPD-FW0XJQ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-FW0XJQ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-FW0XJQ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-FW0XJQ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-FW0XJQ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-FW0XJQ Lynch syndrome 2B90.Y Orphanet 144 TPD-FW0XJQ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-FW0XJQ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G1MD3X Noonan syndrome LD2F.15 Orphanet 648 TPD-G1MD3X Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-G1MD3X Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-G1MD3X Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-G1MD3X Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-G1MD3X Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-G1MD3X Lynch syndrome 2B90.Y Orphanet 144 TPD-G1MD3X Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-G1MD3X Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-G24IDJ Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G2V4A8 Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G6U5YF Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G7ZIAG Estrogen resistance syndrome 5A90 Orphanet 785 TPD-G9YEKE Estrogen resistance syndrome 5A90 Orphanet 785 TPD-GU7P55 Cowden syndrome LD2D.Y Orphanet 201 TPD-GU7P55 CLAPO syndrome LD2C Orphanet 168984 TPD-GU7P55 Meningioma 2A01.0 Orphanet 2495 TPD-GU7P55 CLOVES syndrome LD2C Orphanet 140944 TPD-GU7P55 Lynch syndrome 2B90.Y Orphanet 144 TPD-GU7P55 Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-GU7P55 Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-GU7P55 Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-GU7P55 Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-GU7P55 Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-GU7P55 Hemimegalencephaly LA05.1 Orphanet 99802 TPD-GX8I04 Cowden syndrome LD2D.Y Orphanet 201 TPD-GX8I04 CLAPO syndrome LD2C Orphanet 168984 TPD-GX8I04 Meningioma 2A01.0 Orphanet 2495 TPD-GX8I04 CLOVES syndrome LD2C Orphanet 140944 TPD-GX8I04 Lynch syndrome 2B90.Y Orphanet 144 TPD-GX8I04 Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-GX8I04 Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-GX8I04 Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-GX8I04 Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-GX8I04 Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-GX8I04 Hemimegalencephaly LA05.1 Orphanet 99802 TPD-H17L2V Cowden syndrome LD2D.Y Orphanet 201 TPD-H17L2V CLAPO syndrome LD2C Orphanet 168984 TPD-H17L2V Meningioma 2A01.0 Orphanet 2495 TPD-H17L2V CLOVES syndrome LD2C Orphanet 140944 TPD-H17L2V Lynch syndrome 2B90.Y Orphanet 144 TPD-H17L2V Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-H17L2V Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-H17L2V Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-H17L2V Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-H17L2V Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-H17L2V Hemimegalencephaly LA05.1 Orphanet 99802 TPD-H7U3X7 Cowden syndrome LD2D.Y Orphanet 201 TPD-H7U3X7 CLAPO syndrome LD2C Orphanet 168984 TPD-H7U3X7 Meningioma 2A01.0 Orphanet 2495 TPD-H7U3X7 CLOVES syndrome LD2C Orphanet 140944 TPD-H7U3X7 Lynch syndrome 2B90.Y Orphanet 144 TPD-H7U3X7 Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-H7U3X7 Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-H7U3X7 Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-H7U3X7 Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-H7U3X7 Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-H7U3X7 Hemimegalencephaly LA05.1 Orphanet 99802 TPD-H83BE5 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-H83BE5 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HACQO3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HACQO3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HBOTK3 X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HBOTK3 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HHRU9Q X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HHRU9Q Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HIAWHR X-linked agammaglobulinemia 4A01.00 Orphanet 47 TPD-HIAWHR Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 4A01.00 Orphanet 632 TPD-HT07UU Noonan syndrome LD2F.15 Orphanet 648 TPD-HT07UU Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HT07UU Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HT07UU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HT07UU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HT07UU Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HT07UU Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HT07UU Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HT07UU Craniopharyngioma 2F9A Orphanet 54595 TPD-HT07UU Cushing disease 5A70.0 Orphanet 96253 TPD-HT07UU Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-HXJ0J3 Noonan syndrome LD2F.15 Orphanet 648 TPD-HXJ0J3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HXJ0J3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HXJ0J3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HXJ0J3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HXJ0J3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HXJ0J3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HXJ0J3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HXJ0J3 Craniopharyngioma 2F9A Orphanet 54595 TPD-HXJ0J3 Cushing disease 5A70.0 Orphanet 96253 TPD-HXJ0J3 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-HZ1O71 Noonan syndrome LD2F.15 Orphanet 648 TPD-HZ1O71 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HZ1O71 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HZ1O71 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HZ1O71 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HZ1O71 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HZ1O71 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HZ1O71 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HZ1O71 Craniopharyngioma 2F9A Orphanet 54595 TPD-HZ1O71 Cushing disease 5A70.0 Orphanet 96253 TPD-HZ1O71 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-HZ2VQ3 Noonan syndrome LD2F.15 Orphanet 648 TPD-HZ2VQ3 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-HZ2VQ3 Noonan syndrome with multiple lentigines LD2F.1Y Orphanet 500 TPD-HZ2VQ3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-HZ2VQ3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-HZ2VQ3 Langerhans cell histiocytosis 2B31.2/2B31.20/2B31.2Y Orphanet 389 TPD-HZ2VQ3 Syringocystadenoma papilliferum LC0Y Orphanet 840 TPD-HZ2VQ3 Classic hairy cell leukemia 2A82.2 Orphanet 58017 TPD-HZ2VQ3 Craniopharyngioma 2F9A Orphanet 54595 TPD-HZ2VQ3 Cushing disease 5A70.0 Orphanet 96253 TPD-HZ2VQ3 Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-I1KOG3 Noonan syndrome LD2F.15 Orphanet 648 TPD-I1KOG3 Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I1KOG3 Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I1KOG3 Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I1KOG3 Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I1KOG3 Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I1KOG3 Lynch syndrome 2B90.Y Orphanet 144 TPD-I1KOG3 Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I1KOG3 Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-I4AU8J Noonan syndrome LD2F.15 Orphanet 648 TPD-I4AU8J Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-I4AU8J Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-I4AU8J Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-I4AU8J Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-I4AU8J Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-I4AU8J Lynch syndrome 2B90.Y Orphanet 144 TPD-I4AU8J Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-I4AU8J Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IABSWZ Noonan syndrome LD2F.15 Orphanet 648 TPD-IABSWZ Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IABSWZ Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IABSWZ Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IABSWZ Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IABSWZ Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IABSWZ Lynch syndrome 2B90.Y Orphanet 144 TPD-IABSWZ Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IABSWZ Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IM1IDO Noonan syndrome LD2F.15 Orphanet 648 TPD-IM1IDO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IM1IDO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IM1IDO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IM1IDO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IM1IDO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IM1IDO Lynch syndrome 2B90.Y Orphanet 144 TPD-IM1IDO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IM1IDO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-ITVPSO Noonan syndrome LD2F.15 Orphanet 648 TPD-ITVPSO Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-ITVPSO Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-ITVPSO Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-ITVPSO Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-ITVPSO Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-ITVPSO Lynch syndrome 2B90.Y Orphanet 144 TPD-ITVPSO Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-ITVPSO Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IVWCKU Noonan syndrome LD2F.15 Orphanet 648 TPD-IVWCKU Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IVWCKU Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IVWCKU Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IVWCKU Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IVWCKU Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IVWCKU Lynch syndrome 2B90.Y Orphanet 144 TPD-IVWCKU Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IVWCKU Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-IX474L Noonan syndrome LD2F.15 Orphanet 648 TPD-IX474L Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-IX474L Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-IX474L Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-IX474L Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-IX474L Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-IX474L Lynch syndrome 2B90.Y Orphanet 144 TPD-IX474L Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-IX474L Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-J899AV Noonan syndrome LD2F.15 Orphanet 648 TPD-J899AV Linear nevus sebaceus syndrome LD2D.Y Orphanet 2612 TPD-J899AV Cardiofaciocutaneous syndrome LD27.0Y Orphanet 1340 TPD-J899AV Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-J899AV Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-J899AV Oculoectodermal syndrome LD27.0Y Orphanet 3339 TPD-J899AV Lynch syndrome 2B90.Y Orphanet 144 TPD-J899AV Familial pancreatic carcinoma 2C10.Z Orphanet 1333 TPD-J899AV Juvenile myelomonocytic leukemia 2A42 Orphanet 86834 TPD-JFOLOC Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-JFOLOC Sotos syndrome LD2C Orphanet 821 TPD-JFOLOC Weaver syndrome LD2C Orphanet 3447 TPD-JFOLOC Deletion 5q35 syndrome LD44.50 Orphanet 1627 TPD-JFOLOC 5q35 microduplication syndrome LD41.40 Orphanet 228415 TPD-JFOLOC Beckwith-Wiedemann syndrome due to NSD1 mutation LD2C Orphanet 238613 TPD-JV6286 Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-JV6286 Sotos syndrome LD2C Orphanet 821 TPD-JV6286 Weaver syndrome LD2C Orphanet 3447 TPD-JV6286 Deletion 5q35 syndrome LD44.50 Orphanet 1627 TPD-JV6286 5q35 microduplication syndrome LD41.40 Orphanet 228415 TPD-JV6286 Beckwith-Wiedemann syndrome due to NSD1 mutation LD2C Orphanet 238613 TPD-JW93KH Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-JW93KH Sotos syndrome LD2C Orphanet 821 TPD-JW93KH Weaver syndrome LD2C Orphanet 3447 TPD-JW93KH Deletion 5q35 syndrome LD44.50 Orphanet 1627 TPD-JW93KH 5q35 microduplication syndrome LD41.40 Orphanet 228415 TPD-JW93KH Beckwith-Wiedemann syndrome due to NSD1 mutation LD2C Orphanet 238613 TPD-K7QHEH Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-K7QHEH Sotos syndrome LD2C Orphanet 821 TPD-K7QHEH Weaver syndrome LD2C Orphanet 3447 TPD-K7QHEH Deletion 5q35 syndrome LD44.50 Orphanet 1627 TPD-K7QHEH 5q35 microduplication syndrome LD41.40 Orphanet 228415 TPD-K7QHEH Beckwith-Wiedemann syndrome due to NSD1 mutation LD2C Orphanet 238613 TPD-KCR4U8 Wolf-Hirschhorn syndrome LD44.41 Orphanet 280 TPD-KCR4U8 Sotos syndrome LD2C Orphanet 821 TPD-KCR4U8 Weaver syndrome LD2C Orphanet 3447 TPD-KCR4U8 Deletion 5q35 syndrome LD44.50 Orphanet 1627 TPD-KCR4U8 5q35 microduplication syndrome LD41.40 Orphanet 228415 TPD-KCR4U8 Beckwith-Wiedemann syndrome due to NSD1 mutation LD2C Orphanet 238613 TPD-KD5MJH Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-KMC9J8 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-KUFE7T Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-L0H65K Weaver syndrome LD2C Orphanet 3447 TPD-LDSQRR Marfan syndrome type 2 LD28.01 Orphanet 284973 TPD-LDSQRR Multiple self-healing squamous epithelioma 2C31.1 Orphanet 65748 TPD-LDSQRR Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-LDSQRR Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-LGTKIE Cowden syndrome LD2D.Y Orphanet 201 TPD-LGTKIE CLAPO syndrome LD2C Orphanet 168984 TPD-LGTKIE Meningioma 2A01.0 Orphanet 2495 TPD-LGTKIE CLOVES syndrome LD2C Orphanet 140944 TPD-LGTKIE Lynch syndrome 2B90.Y Orphanet 144 TPD-LGTKIE Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-LGTKIE Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-LGTKIE Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-LGTKIE Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-LGTKIE Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-LGTKIE Hemimegalencephaly LA05.1 Orphanet 99802 TPD-LGTKIE Isolated focal cortical dysplasia type IIb LA05.51 Orphanet 269008 TPD-LGTKIE Isolated focal cortical dysplasia type IIa LA05.51 Orphanet 269001 TPD-LU8Z54 Lissencephaly due to TUBA1A mutation LD20.1 Orphanet 171680 TPD-LU8Z54 Fetal akinesia deformation sequence LD2F.1Y Orphanet 994 TPD-LU8Z54 Congenital fibrosis of extraocular muscles 9C82.2 Orphanet 45358 TPD-LW2EMJ Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-LW2EMJ Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-LW2EMJ Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-LW2EMJ Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-LW2EMJ Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-LW2EMJ Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-LW2EMJ B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-LW2EMJ Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-LW2EMJ Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-M3TMC4 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-M3TMC4 STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-M3TMC4 Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-M3TMC4 Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-M3TMC4 T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-M3TMC4 Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-M3TMC4 Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-MMHVXJ Cornelia de Lange syndrome LD2F.1Y Orphanet 199 TPD-MMHVXJ Wilson-Turner syndrome LD29 Orphanet 3459 TPD-MOWGC5 Li-Fraumeni syndrome 2B51.Y Orphanet 524 TPD-MOWGC5 Familial prostate cancer 2C82.Y Orphanet 1331 TPD-MOWGC5 Hereditary breast and/or ovarian cancer syndrome 2C65 Orphanet 145 TPD-MOWGC5 Osteosarcoma 2B51/2B51.0/2B51.1/2B51.2/2B51.Y Orphanet 668 TPD-MOWGC5 Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-MYWLEB Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome LD2F.1Y Orphanet 444077 TPD-MYWLEB X-linked intellectual disability due to GRIA3 mutations LD90 Orphanet 364028 TPD-MYWLEB Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 8C21.Y Orphanet 320385 TPD-MYWLEB Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-MYWLEB Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-MYWLEB Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 8C20.2 Orphanet 93114 TPD-MYWLEB Leber hereditary optic neuropathy 8C73.Y Orphanet 104 TPD-MYWLEB Isolated complex I deficiency 5C53.2Y Orphanet 2609 TPD-MYWLEB Early-onset autosomal dominant Alzheimer disease 6D80.0 Orphanet 1020 TPD-MYWLEB Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-MYWLEB Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-MYWLEB Semantic dementia 6D83 Orphanet 100069 TPD-MYWLEB Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-MYWLEB Cystic leukoencephalopathy without megalencephaly 5C55.2 Orphanet 85136 TPD-N9AVJM Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome LD2F.1Y Orphanet 444077 TPD-N9AVJM X-linked intellectual disability due to GRIA3 mutations LD90 Orphanet 364028 TPD-N9AVJM Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 8C21.Y Orphanet 320385 TPD-N9AVJM Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-N9AVJM Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-N9AVJM Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 8C20.2 Orphanet 93114 TPD-N9AVJM Leber hereditary optic neuropathy 8C73.Y Orphanet 104 TPD-N9AVJM Isolated complex I deficiency 5C53.2Y Orphanet 2609 TPD-N9AVJM Early-onset autosomal dominant Alzheimer disease 6D80.0 Orphanet 1020 TPD-N9AVJM Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-N9AVJM Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N9AVJM Semantic dementia 6D83 Orphanet 100069 TPD-N9AVJM Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N9AVJM Cystic leukoencephalopathy without megalencephaly 5C55.2 Orphanet 85136 TPD-N9LWAT Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome LD2F.1Y Orphanet 444077 TPD-N9LWAT X-linked intellectual disability due to GRIA3 mutations LD90 Orphanet 364028 TPD-N9LWAT Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 8C21.Y Orphanet 320385 TPD-N9LWAT Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-N9LWAT Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-N9LWAT Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 8C20.2 Orphanet 93114 TPD-N9LWAT Leber hereditary optic neuropathy 8C73.Y Orphanet 104 TPD-N9LWAT Isolated complex I deficiency 5C53.2Y Orphanet 2609 TPD-N9LWAT Early-onset autosomal dominant Alzheimer disease 6D80.0 Orphanet 1020 TPD-N9LWAT Familial isolated dilated cardiomyopathy BC43.00 Orphanet 154 TPD-N9LWAT Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-N9LWAT Semantic dementia 6D83 Orphanet 100069 TPD-N9LWAT Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-N9LWAT Cystic leukoencephalopathy without megalencephaly 5C55.2 Orphanet 85136 TPD-N9QMPR Ataxia-telangiectasia 4A01.31 Orphanet 100 TPD-N9QMPR Familial prostate cancer 2C82.Y Orphanet 1331 TPD-N9QMPR Hereditary breast cancer 2C6Y Orphanet 227535 TPD-N9QMPR Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-N9QMPR B-cell chronic lymphocytic leukemia 2A82.0 Orphanet 67038 TPD-N9QMPR Mantle cell lymphoma 2A85.5 Orphanet 52416 TPD-NCCR6L Spondylometaphyseal dysplasia, Sedaghatian type LD24.5Y Orphanet 93317 TPD-NFD959 Large/giant congenital melanocytic nevus 2F20.20 Orphanet 626 TPD-NFD959 Neuroblastoma 2A00.11/XH85Z0 Orphanet 635 TPD-NFD959 Inflammatory myofibroblastic tumor 2E92.1/2F30.Y Orphanet 178342 TPD-NFD959 ALK-positive large B-cell lymphoma 2A81.8/XH1EB9 Orphanet 364043 TPD-NFD959 ALK-positive anaplastic large cell lymphoma 2A90.A/XH9484 Orphanet 300895 TPD-NLRITT Aromatase excess syndrome 5A92 Orphanet 178345 TPD-NLRITT Aromatase deficiency 5A9Y Orphanet 91 TPD-NXJKZ0 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-OAJPRR Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-OCOT52 Seckel syndrome LD24.D Orphanet 808 TPD-OD0JLT Cowden syndrome LD2D.Y Orphanet 201 TPD-OD0JLT CLAPO syndrome LD2C Orphanet 168984 TPD-OD0JLT Meningioma 2A01.0 Orphanet 2495 TPD-OD0JLT CLOVES syndrome LD2C Orphanet 140944 TPD-OD0JLT Lynch syndrome 2B90.Y Orphanet 144 TPD-OD0JLT Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-OD0JLT Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-OD0JLT Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-OD0JLT Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-OD0JLT Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-OD0JLT Hemimegalencephaly LA05.1 Orphanet 99802 TPD-OE7DDU Megacystis-microcolon-intestinal hypoperistalsis syndrome LD2F.1Y Orphanet 2241 TPD-OE7DDU Familial aortic dissection BD50.Z Orphanet 229 TPD-OE7DDU Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-OE7DDU Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-OM6SRS Megacystis-microcolon-intestinal hypoperistalsis syndrome LD2F.1Y Orphanet 2241 TPD-OM6SRS Familial aortic dissection BD50.Z Orphanet 229 TPD-OM6SRS Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-OM6SRS Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-OT3U5G Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-OT3U5G STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-OT3U5G Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-OT3U5G Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-OT3U5G T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-OT3U5G Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-OT3U5G Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-OUZXCD Rare autosomal dominant non-syndromic sensorineural deafness type DFNA AB50 Orphanet 90635 TPD-OYJS5K Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-P9D9BD Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 4A01.34 Orphanet 2314 TPD-P9D9BD STAT3-related early-onset multisystem autoimmune disease 4A01.22 Orphanet 438159 TPD-P9D9BD Acute promyelocytic leukemia 2A60.0/XH1A50 Orphanet 520 TPD-P9D9BD Chronic lymphoproliferative disorder of natural killer cells 2A90.2 Orphanet 512017 TPD-P9D9BD T-cell large granular lymphocyte leukemia 2A90.1 Orphanet 86872 TPD-P9D9BD Breast implant-associated anaplastic large cell lymphoma 2A90.B/XH05D8 Orphanet 667662 TPD-P9D9BD Isolated permanent neonatal diabetes mellitus KB60.2Y Orphanet 99885 TPD-PGL6EL Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-PGL6EL Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-PGL6EL Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-PGL6EL Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-PGL6EL Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-PGL6EL Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-PGL6EL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-PGL6EL Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-PGL6EL Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-PNEVKL Primary mediastinal large B-cell lymphoma 2A81.0 Orphanet 98838 TPD-POCAA2 Congenital diaphragmatic hernia LB00.0 Orphanet 2140 TPD-POCAA2 Pyruvate dehydrogenase E1-alpha deficiency 5C53.02 Orphanet 79243 TPD-PR14JW Moyamoya disease 8B22.B Orphanet 2573 TPD-PR14JW Multisystemic smooth muscle dysfunction syndrome BD50.Z Orphanet 404463 TPD-PR14JW Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-PSA84R Osteosclerotic bone dysplasia LD24.1Y Orphanet 1832 TPD-Q1KIQL Osteosclerotic bone dysplasia LD24.1Y Orphanet 1832 TPD-Q8TFNA Acute myeloblastic leukemia without maturation 2A60.31 Orphanet 98833 TPD-Q8TFNA Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-Q8TFNA Acute myeloid leukemia with minimal differentiation 2A60.30/XH90G0 Orphanet 98832 TPD-Q8TFNA Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-Q8TFNA Mixed phenotype acute leukemia with t(v;11q23.3) 2A61 Orphanet 589595 TPD-Q8TFNA Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 2A61/XH97B7 Orphanet 589534 TPD-Q8TFNA B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-Q8TFNA Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-Q8TFNA Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-Q9NLKB Cowden syndrome LD2D.Y Orphanet 201 TPD-Q9NLKB CLAPO syndrome LD2C Orphanet 168984 TPD-Q9NLKB Meningioma 2A01.0 Orphanet 2495 TPD-Q9NLKB CLOVES syndrome LD2C Orphanet 140944 TPD-Q9NLKB Lynch syndrome 2B90.Y Orphanet 144 TPD-Q9NLKB Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-Q9NLKB Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-Q9NLKB Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-Q9NLKB Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-Q9NLKB Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-Q9NLKB Hemimegalencephaly LA05.1 Orphanet 99802 TPD-QCCAZ9 Sialidosis type 1 5C56.21 Orphanet 812 TPD-QCCAZ9 Juvenile sialidosis type 2 5C56.21 Orphanet 93399 TPD-QCCAZ9 Congenital sialidosis type 2 5C56.21 Orphanet 93400 TPD-QE34HN Cowden syndrome LD2D.Y Orphanet 201 TPD-QE34HN CLAPO syndrome LD2C Orphanet 168984 TPD-QE34HN Meningioma 2A01.0 Orphanet 2495 TPD-QE34HN CLOVES syndrome LD2C Orphanet 140944 TPD-QE34HN Lynch syndrome 2B90.Y Orphanet 144 TPD-QE34HN Familial cerebral cavernous malformation LA90.0Y Orphanet 221061 TPD-QE34HN Macrodactyly of fingers, unilateral LB97.0 Orphanet 295239 TPD-QE34HN Macrodactyly of toes, unilateral LB97.1 Orphanet 295243 TPD-QE34HN Megalencephaly-capillary malformation-polymicrogyria syndrome LD2F.1Y Orphanet 60040 TPD-QE34HN Capillary-lymphatic-venous malformation with segmental distribution LD26.60 Orphanet 90308 TPD-QE34HN Hemimegalencephaly LA05.1 Orphanet 99802 TPD-RN5W8A X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome LD90 Orphanet 480907 TPD-RN5W8A X-linked dystonia-parkinsonism 8A00.20 Orphanet 53351 TPD-RN7RF1 Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-RN7RF1 Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-RN7RF1 Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-S60NSQ Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-S60NSQ Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-S60NSQ Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-S7YGQ2 Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-S7YGQ2 AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-SA4NUJ Papillary renal cell carcinoma 2C90.Y Orphanet 319298 TPD-SA4NUJ Hereditary papillary renal cell carcinoma 2C90.Y Orphanet 47044 TPD-SA4NUJ Rare autosomal recessive non-syndromic sensorineural deafness type DFNB AB50 Orphanet 90636 TPD-SCE04R Christianson syndrome 8A03.1Y Orphanet 85278 TPD-SCE04R Cystic fibrosis CA25 Orphanet 586 TPD-SCE04R Congenital sodium diarrhea DA90.1 Orphanet 103908 TPD-SGX7L7 Behavioral variant of frontotemporal dementia 6D83 Orphanet 275864 TPD-SGX7L7 Classic progressive supranuclear palsy syndrome 8A00.10 Orphanet 240071 TPD-SGX7L7 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 8A00.10 Orphanet 240112 TPD-SGX7L7 Progressive supranuclear palsy-corticobasal syndrome 8A00.10 Orphanet 240103 TPD-SGX7L7 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 8A00.10 Orphanet 240094 TPD-SGX7L7 Progressive supranuclear palsy-predominant parkinsonism syndrome 8A00.10 Orphanet 240085 TPD-SGX7L7 Semantic dementia 6D83 Orphanet 100069 TPD-SGX7L7 Progressive non-fluent aphasia 6D83 Orphanet 100070 TPD-SHKGS8 Plaque-form urticaria pigmentosa 2A21.10 Orphanet 158769 TPD-SHKGS8 Typical urticaria pigmentosa 2A21.10 Orphanet 158766 TPD-SHKGS8 Isolated bone marrow mastocytosis 2A21.0Y Orphanet 158778 TPD-SHKGS8 Smoldering systemic mastocytosis 2A21.0Y Orphanet 158775 TPD-SHKGS8 Nodular urticaria pigmentosa 2A21.10 Orphanet 158772 TPD-SHKGS8 Piebaldism EC23.2Y Orphanet 2884 TPD-SHKGS8 Testicular seminomatous germ cell tumor 2C80.2 Orphanet 842 TPD-SHKGS8 Bullous diffuse cutaneous mastocytosis 2A21.1Y Orphanet 280785 TPD-SHKGS8 Pseudoxanthomatous diffuse cutaneous mastocytosis 2A21.1Y Orphanet 280794 TPD-SHKGS8 Acute mast cell leukemia 2A21.00 Orphanet 566393 TPD-SHKGS8 Chronic mast cell leukemia 2A21.00 Orphanet 566396 TPD-SHKGS8 Gastrointestinal stromal tumor 2B5B/XH9HQ1 Orphanet 44890 TPD-SHKGS8 Telangiectasia macularis eruptiva perstans 2A21.1Y Orphanet 90389 TPD-SHKGS8 Cutaneous mastocytoma 2A21.1Y Orphanet 79455 TPD-SHKGS8 Acute myeloblastic leukemia with maturation 2A60.32 Orphanet 98834 TPD-SHKGS8 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 2A60.0 Orphanet 98829 TPD-SHKGS8 Systemic mastocytosis with associated hematologic neoplasm 2A21.0Y/XH5195 Orphanet 98849 TPD-SHKGS8 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2A60.0 Orphanet 102724 TPD-SHKGS8 Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SHKGS8 Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SHKGS8 Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SIRO9M Muckle-Wells syndrome 4A60.1 Orphanet 575 TPD-SIRO9M CINCA syndrome 4A60.1 Orphanet 1451 TPD-SIRO9M Familial cold urticaria 4A60.1 Orphanet 47045 TPD-SNLD42 Lethal brain and heart developmental defects LD2F.1Y Orphanet 580933 TPD-SW0D3T Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-SW0D3T Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-SW0D3T Neonatal inflammatory skin and bowel disease 4A6Y Orphanet 294023 TPD-SW0RSC Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-T4VBPW X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome LD90 Orphanet 480907 TPD-T4VBPW X-linked dystonia-parkinsonism 8A00.20 Orphanet 53351 TPD-T6YBZM Kleefstra syndrome due to a point mutation LD2F.1Y Orphanet 261652 TPD-T6YBZM Kleefstra syndrome due to 9q34 microdeletion LD2F.1Y Orphanet 96147 TPD-T7577B Familial prostate cancer 2C82.Y Orphanet 1331 TPD-T7577B Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-T7S1NH Familial melanoma QC61.Y Orphanet 618 TPD-T7S1NH Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TBRCYP Familial melanoma QC61.Y Orphanet 618 TPD-TBRCYP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TBRCYP Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-TCYO30 Familial melanoma QC61.Y Orphanet 618 TPD-TCYO30 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TDLU5M Familial melanoma QC61.Y Orphanet 618 TPD-TDLU5M Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-TDLU5M Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-TIU48A Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-TIU48A MODY 5A13.6 Orphanet 552 TPD-TJB6Z2 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-TJB6Z2 MODY 5A13.6 Orphanet 552 TPD-TJB6Z2 Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-TJB6Z2 Familial melanoma QC61.Y Orphanet 618 TPD-TJB6Z2 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LD24.3 Orphanet 93358 TPD-TJB6Z2 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-TJB6Z2 Williams syndrome LD44.70 Orphanet 904 TPD-TJB6Z2 Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-TJB6Z2 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-TJB6Z2 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-TJB6Z2 Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-TJB6Z2 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-TJB6Z2 Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-TJB6Z2 X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-TJB6Z2 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-TNBWMA Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-TNBWMA MODY 5A13.6 Orphanet 552 TPD-TNBWMA Familial melanoma QC61.Y Orphanet 618 TPD-TNBWMA Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-TNBWMA Williams syndrome LD44.70 Orphanet 904 TPD-TNBWMA Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-TW1Q2M Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-TW1Q2M B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-TW1Q2M Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-TW1Q2M Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-TW1Q2M MODY 5A13.6 Orphanet 552 TPD-TW1Q2M Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-TW1Q2M Familial melanoma QC61.Y Orphanet 618 TPD-TW1Q2M Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-TW1Q2M Williams syndrome LD44.70 Orphanet 904 TPD-TW1Q2M 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-TW1Q2M 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-TW1Q2M Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-TW1Q2M Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-TW1Q2M X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-TW1Q2M Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-U1H70Y Familial melanoma QC61.Y Orphanet 618 TPD-U1H70Y Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-U1H70Y MODY 5A13.6 Orphanet 552 TPD-U1H70Y Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-U1H70Y Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-U1H70Y Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-U2D2KF Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-U2D2KF B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U2D2KF Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-U2D2KF Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-U2D2KF MODY 5A13.6 Orphanet 552 TPD-U2D2KF Familial melanoma QC61.Y Orphanet 618 TPD-U2D2KF Williams syndrome LD44.70 Orphanet 904 TPD-U2D2KF Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-U2D2KF Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-U2D2KF Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-U2D2KF X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-U6DN51 Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-U6DN51 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-U6DN51 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-U6DN51 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-U6DN51 MODY 5A13.6 Orphanet 552 TPD-U6DN51 Familial melanoma QC61.Y Orphanet 618 TPD-U6DN51 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-U6DN51 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-U6DN51 Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-U6DN51 Frontometaphyseal dysplasia LD25.1 Orphanet 1826 TPD-U6DN51 Cardiospondylocarpofacial syndrome LD2H.Y Orphanet 3238 TPD-U6DN51 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-UBK7ES Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-UBK7ES MODY 5A13.6 Orphanet 552 TPD-UBK7ES Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-UBK7ES Familial melanoma QC61.Y Orphanet 618 TPD-UPRCJV Familial melanoma QC61.Y Orphanet 618 TPD-UPRCJV Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-UPRCJV Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-UPRCJV Retinitis pigmentosa 9B70 Orphanet 791 TPD-UPRCJV Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-UPRCJV Early-onset generalized limb-onset dystonia 8A02.0Y Orphanet 256 TPD-UPRCJV Williams syndrome LD44.70 Orphanet 904 TPD-UPRCJV Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-V1R691 Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-V1R691 Williams syndrome LD44.70 Orphanet 904 TPD-V2F6DX Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-V2F6DX MODY 5A13.6 Orphanet 552 TPD-V2F6DX Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-V2F6DX Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-VFMWS0 Williams syndrome LD44.70 Orphanet 904 TPD-VIWVK6 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-VIWVK6 MODY 5A13.6 Orphanet 552 TPD-VIWVK6 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-VIWVK6 Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-VKPMHH Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-VKPMHH MODY 5A13.6 Orphanet 552 TPD-VNXWCF Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-VNXWCF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-VNXWCF Familial melanoma QC61.Y Orphanet 618 TPD-VNXWCF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-VNXWCF Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-VNXWCF Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 2A52 Orphanet 168953 TPD-VNXWCF Encephalocraniocutaneous lipomatosis EF02.1 Orphanet 2396 TPD-VNXWCF Gliosarcoma 2A00.00/XH9RC8 Orphanet 251576 TPD-VNXWCF Giant cell glioblastoma 2A00.00/XH8UC5 Orphanet 251579 TPD-VNXWCF Pilomyxoid astrocytoma 2A00.0Y/XH29Q5 Orphanet 251615 TPD-VNXWCF Osteoglosphonic dysplasia LD24.2Y Orphanet 2645 TPD-VNXWCF Non-syndromic metopic craniosynostosis LB70.0Y Orphanet 3366 TPD-VNXWCF Septo-optic dysplasia spectrum 5A61.0 Orphanet 3157 TPD-VNXWCF Microform holoprosencephaly LA05.2 Orphanet 280200 TPD-VNXWCF Kallmann syndrome 5A61.2 Orphanet 478 TPD-VNXWCF Semilobar holoprosencephaly LA05.2 Orphanet 220386 TPD-VNXWCF Normosmic congenital hypogonadotropic hypogonadism 5A61.0 Orphanet 432 TPD-VNXWCF Pfeiffer syndrome type 1 LD24.G0 Orphanet 93258 TPD-VNXWCF Lobar holoprosencephaly LA05.2 Orphanet 93924 TPD-VNXWCF Oligodontia LA30.2 Orphanet 99798 TPD-VNXWCF Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-VNXWCF Seckel syndrome LD24.D Orphanet 808 TPD-VNXWCF Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-VXT82I Cowden syndrome LD2D.Y Orphanet 201 TPD-VXT82I Proteus syndrome LD2C Orphanet 744 TPD-VXT82I Meningioma 2A01.0 Orphanet 2495 TPD-VXT82I Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-VXT82I AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-VXT82I Hemimegalencephaly LA05.1 Orphanet 99802 TPD-VYUBZK Cowden syndrome LD2D.Y Orphanet 201 TPD-VYUBZK Proteus syndrome LD2C Orphanet 744 TPD-VYUBZK Meningioma 2A01.0 Orphanet 2495 TPD-VYUBZK Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-VYUBZK AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-VYUBZK Hemimegalencephaly LA05.1 Orphanet 99802 TPD-VYUBZK Familial melanoma QC61.Y Orphanet 618 TPD-WAV6BC Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-WBXAE3 Familial prostate cancer 2C82.Y Orphanet 1331 TPD-WBXAE3 Primary cutaneous anaplastic large cell lymphoma 2B03.0 Orphanet 300865 TPD-WBXAE3 Lymphomatoid papulosis 2B03.1 Orphanet 98842 TPD-WD5W5A Familial melanoma QC61.Y Orphanet 618 TPD-WD5W5A Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-WD5W5A MODY 5A13.6 Orphanet 552 TPD-WD5W5A Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WD5W5A Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-WD5W5A CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WEMKIB Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-WEMKIB X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-WMJI9V Familial melanoma QC61.Y Orphanet 618 TPD-WMJI9V Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-WMJI9V 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-WMJI9V 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-WNEV1Y Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-WNEV1Y X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-WOCGX0 Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-WOCGX0 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-WOCGX0 Familial melanoma QC61.Y Orphanet 618 TPD-WOCGX0 Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-WOCGX0 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-WOCGX0 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-WQM7YQ Familial melanoma QC61.Y Orphanet 618 TPD-WQM7YQ Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WQM7YQ Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-WRQ5US Familial melanoma QC61.Y Orphanet 618 TPD-WRQ5US Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-WRQ5US Pulmonary capillary hemangiomatosis BB01.0 Orphanet 199241 TPD-WRQ5US Heritable pulmonary arterial hypertension BB01.0 Orphanet 275777 TPD-WRQ5US Pulmonary venoocclusive disease BB01.0 Orphanet 31837 TPD-WRQ5US Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-X4E6TU Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-X4E6TU B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X4E6TU Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X4E6TU Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-X4E6TU MODY 5A13.6 Orphanet 552 TPD-X4E6TU Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-X4E6TU Williams syndrome LD44.70 Orphanet 904 TPD-X4E6TU Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-X5ITUK Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-X5ITUK B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-X5ITUK Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-X5ITUK Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-X5ITUK MODY 5A13.6 Orphanet 552 TPD-X5ITUK Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-X5ITUK Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-X5ITUK Early-onset nuclear cataract LA12.1 Orphanet 98991 TPD-X5ITUK Total early-onset cataract LA12.1 Orphanet 98994 TPD-X5ITUK Early-onset posterior polar cataract LA12.1 Orphanet 98993 TPD-X5ITUK Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-X5ITUK Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-X5ITUK 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-X5ITUK 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-X5ITUK Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-X5ITUK Frontometaphyseal dysplasia LD25.1 Orphanet 1826 TPD-X5ITUK Cardiospondylocarpofacial syndrome LD2H.Y Orphanet 3238 TPD-X5ITUK Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-X5ITUK Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-XGQDA9 Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-XGQDA9 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XGQDA9 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XGQDA9 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-XGQDA9 MODY 5A13.6 Orphanet 552 TPD-XGQDA9 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XGQDA9 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-XLIKL5 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XPH790 Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-XPH790 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XPH790 Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XPH790 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-XPH790 MODY 5A13.6 Orphanet 552 TPD-XPH790 Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XPH790 Williams syndrome LD44.70 Orphanet 904 TPD-XPH790 Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-XV1OTM Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-XV1OTM MODY 5A13.6 Orphanet 552 TPD-XV1OTM Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XY6KAL Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-XY6KAL MODY 5A13.6 Orphanet 552 TPD-XY6KAL Familial melanoma QC61.Y Orphanet 618 TPD-XY6KAL Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XY6KAL Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XZR9ZP Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-XZR9ZP B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-XZR9ZP Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-XZR9ZP Hypoinsulinemic hypoglycemia and body hemihypertrophy 5A4Y Orphanet 293964 TPD-XZR9ZP AKT2-related familial partial lipodystrophy 5A44 Orphanet 79085 TPD-XZR9ZP Hemimegalencephaly LA05.1 Orphanet 99802 TPD-XZR9ZP Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-XZR9ZP MODY 5A13.6 Orphanet 552 TPD-XZR9ZP Hereditary mixed polyposis syndrome 2E92.40 Orphanet 157794 TPD-XZR9ZP Generalized juvenile polyposis/juvenile polyposis coli 2B90.Y Orphanet 329971 TPD-XZR9ZP Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-XZR9ZP Juvenile polyposis of infancy 2B90.Y Orphanet 79076 TPD-XZR9ZP Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-XZR9ZP CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-XZR9ZP Familial melanoma QC61.Y Orphanet 618 TPD-XZR9ZP Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-XZR9ZP Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-XZR9ZP Familial prostate cancer 2C82.Y Orphanet 1331 TPD-XZR9ZP Vein of Galen aneurysmal malformation LA90.20 Orphanet 1053 TPD-XZR9ZP Meige disease BD93.0 Orphanet 90186 TPD-XZR9ZP Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-XZR9ZP Williams syndrome LD44.70 Orphanet 904 TPD-XZR9ZP Young-onset Parkinson disease 8A00.00 Orphanet 2828 TPD-XZR9ZP 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-XZR9ZP 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-XZR9ZP Retinitis pigmentosa 9B70 Orphanet 791 TPD-XZR9ZP Seckel syndrome LD24.D Orphanet 808 TPD-XZR9ZP Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-XZR9ZP Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-XZR9ZP Marfan syndrome type 2 LD28.01 Orphanet 284973 TPD-XZR9ZP Multiple self-healing squamous epithelioma 2C31.1 Orphanet 65748 TPD-XZR9ZP Loeys-Dietz syndrome BD50.Z Orphanet 60030 TPD-XZR9ZP Familial thoracic aortic aneurysm and aortic dissection LD28.0Y Orphanet 91387 TPD-XZR9ZP Autosomal dominant macrothrombocytopenia 3B62.01 Orphanet 140957 TPD-XZR9ZP Parkinson-dementia complex of Guam 6D85.Y Orphanet 90020 TPD-Y2GJ1H Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-Y2GJ1H MODY 5A13.6 Orphanet 552 TPD-Y2GJ1H CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-Y2GJ1H Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-Y2GJ1H Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-Y2GJ1H Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-YAEZZ2 Kallmann syndrome 5A61.2 Orphanet 478 TPD-YAEZZ2 Normosmic congenital hypogonadotropic hypogonadism 5A61.0 Orphanet 432 TPD-YHMMKO Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-YHMMKO MODY 5A13.6 Orphanet 552 TPD-YHMMKO Pediatric systemic lupus erythematosus 4A40.0Y Orphanet 93552 TPD-YHMMKO Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-YHMMKO Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 4A01.2Y Orphanet 529977 TPD-YHMMKO Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-YNDT9A Familial melanoma QC61.Y Orphanet 618 TPD-YNDT9A Williams syndrome LD44.70 Orphanet 904 TPD-YNDT9A Congenital fiber-type disproportion myopathy 8C72.1 Orphanet 2020 TPD-YQ1DHF Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-YQ1DHF MODY 5A13.6 Orphanet 552 TPD-YQ1DHF Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-YQ1DHF CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-YQ1DHF Familial melanoma QC61.Y Orphanet 618 TPD-YQ1DHF Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YQ1DHF Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-YQ1DHF Williams syndrome LD44.70 Orphanet 904 TPD-YQ1DHF Seckel syndrome LD24.D Orphanet 808 TPD-YQ1DHF Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-YQ1DHF Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851 TPD-YQJPNA Familial melanoma QC61.Y Orphanet 618 TPD-YQJPNA Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-YQJPNA Lennox-Gastaut syndrome 8A62.1 Orphanet 2382 TPD-YSZ869 Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-YSZ869 X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-Z3KHRH Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-Z3KHRH X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-Z4RCIY Amyotrophic lateral sclerosis 8B60.0 Orphanet 803 TPD-Z4RCIY Orofaciodigital syndrome type 2 LD25.00 Orphanet 2751 TPD-Z4RCIY Short rib-polydactyly syndrome, Majewski type LD24.B0 Orphanet 93269 TPD-Z4RCIY Nevus comedonicus syndrome LD2D.Y Orphanet 64754 TPD-Z4RCIY Coffin-Lowry syndrome LD2F.1Y Orphanet 192 TPD-Z4RCIY X-linked non-syndromic intellectual disability LD90.Y Orphanet 777 TPD-Z4RCIY Frontotemporal dementia with motor neuron disease 6D83 Orphanet 275872 TPD-Z4RCIY Herpes simplex virus encephalitis 1F00.21 Orphanet 1930 TPD-ZEIL94 Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-ZEIL94 46,XY complete gonadal dysgenesis LD2A.1 Orphanet 242 TPD-ZEIL94 46,XY partial gonadal dysgenesis LD2A.1 Orphanet 251510 TPD-ZHRB0P Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-ZI9VW8 Familial melanoma QC61.Y Orphanet 618 TPD-ZI9VW8 Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZIUHMY Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-ZIUHMY TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome LD90.Y Orphanet 488632 TPD-ZTC3A3 Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-ZTC3A3 MODY 5A13.6 Orphanet 552 TPD-ZTC3A3 Williams syndrome LD44.70 Orphanet 904 TPD-ZZB0NE Chronic myeloid leukemia 2B33.2/XH4XG8 Orphanet 521 TPD-ZZB0NE B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 2A70.1 Orphanet 585909 TPD-ZZB0NE Precursor T-cell acute lymphoblastic leukemia 2A71 Orphanet 99861 TPD-ZZB0NE Systemic lupus erythematosus 4A40.0 Orphanet 536 TPD-ZZB0NE MODY 5A13.6 Orphanet 552 TPD-ZZB0NE Hereditary mixed polyposis syndrome 2E92.40 Orphanet 157794 TPD-ZZB0NE Generalized juvenile polyposis/juvenile polyposis coli 2B90.Y Orphanet 329971 TPD-ZZB0NE Familial colorectal cancer Type X 2B90.Y Orphanet 440437 TPD-ZZB0NE Juvenile polyposis of infancy 2B90.Y Orphanet 79076 TPD-ZZB0NE Mosaic variegated aneuploidy syndrome LD7Y Orphanet 1052 TPD-ZZB0NE CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome LD90.Y Orphanet 646278 TPD-ZZB0NE Familial melanoma QC61.Y Orphanet 618 TPD-ZZB0NE Autosomal recessive primary microcephaly LA05.0 Orphanet 2512 TPD-ZZB0NE Autosomal recessive ataxia due to ubiquinone deficiency LD90.Y Orphanet 139485 TPD-ZZB0NE Retinitis pigmentosa 9B70 Orphanet 791 TPD-ZZB0NE Hereditary steroid-resistant nephrotic syndrome GB41 Orphanet 656 TPD-ZZB0NE Familial advanced sleep-phase syndrome 7A6Z Orphanet 164736 TPD-ZZB0NE Preeclampsia JA24/JA24.0/JA24.1 Orphanet 275555 TPD-ZZB0NE Transient predisposition to invasive pyogenic bacterial infection 4A00.2 Orphanet 70592 TPD-ZZB0NE Severe combined immunodeficiency due to LCK deficiency 4A01.10 Orphanet 280142 TPD-ZZB0NE Williams syndrome LD44.70 Orphanet 904 TPD-ZZB0NE Seckel syndrome LD24.D Orphanet 808 TPD-ZZB0NE Autosomal recessive chorioretinopathy-microcephaly syndrome 9B61 Orphanet 2518 TPD-ZZB0NE Hereditary thrombocytopenia with early-onset myelofibrosis 3B64.01 Orphanet 480851