congenital bile acid synthesis defect 1

Term ID

DOID:0111071

Synonyms

• CBAS1

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. (2)

References

• GARD:9813
• MESH:C535442
• MIM:607765
• ORDO:79301
• SNOMEDCT_US_2023_03_01:238033007
• UMLS_CUI:C1843116

Ontology

Human Disease   ( DOID:0111071 )