| 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/3470305, https://www.ncbi.nlm.nih.gov/pubmed/11067870 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238033007 |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant disease has basis in some Abnormality of prenatal development or birth |