Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Disease data Classification Disease Synonyms BASD2 BASD2 Cholestaza z niedoborem delta(4)-3-oksosteroido 5-beta-reduktazy Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency ORPHA code 79303 OMIM code 235555 ICD10 code K76.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl