| Metadata | |
|---|---|
| ID | DOID:0111068 |
| Name | congenital bile acid synthesis defect 4 |
| Definition | A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/12512044, https://www.ncbi.nlm.nih.gov/pubmed/5064535 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS4 [EXACT] intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid [EXACT] trihydroxycoprostanic acid in bile [EXACT] |
| Parent Relationships |