congenital bile acid synthesis defect 4

congenital bile acid synthesis defect 4

http://purl.obolibrary.org/obo/DOID_0111068

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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/12512044 url:https://www.ncbi.nlm.nih.gov/pubmed/5064535 ]

Synonyms: trihydroxycoprostanic acid in bile intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid CBAS4

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database cross reference

UMLS_CUI:C1858328
GARD:10046
MESH:C535444
MIM:214950
ORDO:79095

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DO_rare_slim

acronym

CBAS4

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disease_ontology

DOID:0111068

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congenital bile acid synthesis defect
disease has basis in some structural_variant
disease has basis in some Abnormality of prenatal development or birth