Visualize Submit Comment
Metadata
ID DOID:0111071
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

OMIM: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

Add an item to the term tracker