congenital bile acid synthesis defect 4
http://purl.obolibrary.org/obo/MONDO_0008967
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. [ Orphanet:79095 ]
Term info
- DOID:0111068 (MONDO:equivalentTo)
- OMIM:214950 (Orphanet:79095/e)
- Orphanet:79095 (OMIM:214950)
- GARD:0010046 (MONDO:equivalentTo)
- MESH:C535444 (Orphanet:79095/e)
gard_rare, ordo_disease
https://github.com/monarch-initiative/mondo/issues/2632, https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/1196
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
http://purl.obolibrary.org/obo/Orphanet_79095, https://omim.org/entry/214950, http://purl.obolibrary.org/obo/DOID_0111068, http://identifiers.org/mesh/C535444
http://purl.obolibrary.org/obo/MONDO_0017753
AMACR deficiency
2-methylacyl-CoA racemase deficiency, congenital bile acid synthesis defect type 4, BAS defect type 4, BASD4, congenital bile acid synthesis defect 4, trihydroxycoprostanic acid in bile, Alpha-methyl-acyl-CoA racemase deficiency, intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid, CBAS4, bile acid synthesis defect, congenital, type 4, liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
Trihydroxycoprostanic acid to cholic acid, cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid, bile acid synthesis defect, congenital, 4, cholestasis, intrahepatic, with defective conversion of, Trihydroxycoprostanic acid in bile
MONDO:0008967
https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4