| Syndrome | Synonym | Genes | |
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3-Methylglutaconic Aciduria and Myelodysplasia
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3-MGCA
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| Show details |
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ACTH-independent macronodular adrenal hyperplasia
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AIMAH, Cushing disease, Adrenal, Familial
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GNAS1
| Show details |
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Acute Myelocytic Leukemia with Polyposis Coli & Colon Cancer
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| Show details |
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Adenosine Deaminase Deficiency
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Severe Combined Immunodeficiency (SCID) due to ADA-deficiency
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ADA
| Show details |
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Alpha-1-Antitrypsin Deficiency
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PI
| Show details |
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Alpha-Fetoprotein, Hereditary Persistence of
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HPAFP
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AFP
| Show details |
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Alport syndrome with Diffuse Leiomyomatosis
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COL4A5, COL4A6
| Show details |
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Androgen Insensitivity Syndrome
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CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome
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AR
| Show details |
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Angiolipomatosis, Familial
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|
| Show details |
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Ataxia Telangiectasia
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AT, Louis-Bar syndrome
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ATM
| Show details |
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Ataxia-Telangiectasia-Like Disorder
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ATLD
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MRE11A
| Show details |
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Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy
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APECED
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AIRE
| Show details |
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Baller-Gerold syndrome
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Craniosynostosis with Radial Defects
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RECQL4
| Show details |
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Beckwith-Wiedemann syndrome
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BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS
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H19, LIT1/KCNQ1OT1, NSD1, p57/kip2/CDKN1C
| Show details |
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Birt-Hogg-Dubé syndrome
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BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis
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FLCN
| Show details |
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Bladder-, Ureter, Renal Pyelum Cancer, Familial Clustering of
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Urothelial Cancer, Familial, Transitional Cell Carcinoma of the Urinary Tract, Familial
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| Show details |
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Bone Dysplasia with Malignant Change, Hereditary
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Hereditary Bone Dysplasia with Malignant Fibrous Histiocytoma, Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma, DMS-MFH
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DMSMFH/BDMF#
| Show details |
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Breast Cancer, Pyloric Stenosis and Endometriosis
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|
| Show details |
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Byler disease
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PFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic Cholestasis
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FIC1/ATP8B1
| Show details |
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Cartilage-Hair Hypoplasia
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CHH, Metaphyseal Dysplasia/Chondrodysplasia McKusick type
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RMRP
| Show details |
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