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Metadata
DOID 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
Synonyms

CBAS1 [EXACT]

Xrefs

MESH:C535442

OMIM:607765

ORDO:79301

UMLS_CUI:C1843116

Relationships

is_a congenital bile acid synthesis defect

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