Syndrome | Synonym | Genes | |
Byler disease
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PFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic Cholestasis
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FIC1/ATP8B1
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Hepatic Adenoma, Familial Clustering of
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incl. Maturity-Onset Diabetes of the Young type 3, MODY3
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HNF1A
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HRAS mutation somatic mosaicism
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HRAS
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Macrocephaly-Cutis Marmorata syndrome
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Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM
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Nasopharyngeal Teratoma and Diaphragmatic Hernia
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PALB2-associated Familial Breast and Pancreatic Cancer
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PALB2/FANCN
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Pancreatic Cancer, Familial Clustering of
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incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1
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ATM, BRCA2, PALB2/FANCN, PALLD
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