has characteristic has characteristic congenital bile acid synthesis defect 4 https://github.com/monarch-initiative/mondo/issues/1196 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4069 https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 https://www.malacards.org/card/bile_acid_synthesis_defect_congenital_4 Trihydroxycoprostanic acid to cholic acid congenital bile acid synthesis defect 4 AMACR deficiency congenital bile acid synthesis defect type 4 MEDGEN:388039 liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome MESH:C535444 DOID:0111068 Alpha-methyl-acyl-CoA racemase deficiency OMIM:214950 bile acid synthesis defect, congenital, type 4 2-methylacyl-CoA racemase deficiency An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. bile acid synthesis defect, congenital, 4 BAS defect type 4 CBAS4 Orphanet:79095 GARD:0010046 cholestasis, intrahepatic, with defective conversion of BASD4 MONDO:0008967 UMLS:C1858328 alpha-methylacyl-CoA racemase deficiency obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation congenital bile acid synthesis defect congenital