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Metadata
ID	DOID:0111071
PURL	http://purl.obolibrary.org/obo/DOID_0111071 Copy Copied!
Name	congenital bile acid synthesis defect 1
Definition	A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. https://www.ncbi.nlm.nih.gov/pubmed/11067870, https://www.ncbi.nlm.nih.gov/pubmed/3470305
Xrefs	GARD:9813 MESH:C535442 MIM:607765 ORDO:79301 SNOMEDCT_US_2023_03_01:238033007 UMLS_CUI:C1843116
Subsets	DO_rare_slim
Synonyms	CBAS1 [EXACT]
Parent Relationships	is_a congenital bile acid synthesis defect