Search Ontology:
Human Disease
congenital bile acid synthesis defect 1
- Term ID
- DOID:0111071
- Synonyms
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- 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
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- GARD:9813
- MESH:C535442
- MIM:607765
- ORDO:79301
- SNOMEDCT_US_2023_03_01:238033007
- UMLS_CUI:C1843116
- Ontology
- Human Disease ( DOID:0111071 )
- is a type of
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Genes Involved
Zebrafish Models