| 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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Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation
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Familial AML
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CEBPA
| Show details |
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Adrenocortical Cancer, Multiple Primary Malignancies in Patients with
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| Show details |
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Alcohol intake
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Ethanol intake, Alcohol addiction
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| Show details |
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Alport syndrome with Diffuse Leiomyomatosis
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COL4A5, COL4A6
| Show details |
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Anal Cancer, Multiple Primary Malignancies in Patients with
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| Show details |
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Arrhenoblastoma and Thyroid Adenoma, Familial
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incl.: Arrhenoblastoma, Familial Clustering
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| Show details |
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Asthma
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| Show details |
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Atopic Disease
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incl. Atopy, Eczema, Hay Fever, Asthma, Allergy
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| Show details |
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Autoimmune Lymphoproliferative syndrome, type I
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Canale-Smith syndrome, ALPS type I (incl.: ALPS1A, ALPS1B), incl. Autoimmune Lymphoproliferative Disease (ALD)
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APT1/FAS
| 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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Bannayan-Riley-Ruvalcaba syndrome
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subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.
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PTEN
| 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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Biliary Tract Cancer, Multiple Primary Malignancies in Patients with
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| 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 Cancer, Multiple Primary Malignancies in Patients with
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| 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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