congenital bile acid synthesis defect
steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver
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congenital bile acid synthesis defect
Summary
congenital bile acid synthesis defect is a class of disease[1].
Key Facts
- congenital bile acid synthesis defect's instance of is recorded as class of disease[2].
- congenital bile acid synthesis defect's subclass of is recorded as steroid inherited metabolic disorder[3].
- congenital bile acid synthesis defect's subclass of is recorded as bile acid synthesis defect with cholestasis and malabsorption[4].
- congenital bile acid synthesis defect's subclass of is recorded as congenital disorder[5].
- congenital bile acid synthesis defect's KEGG ID is recorded as H00628[6].
- congenital bile acid synthesis defect's Disease Ontology ID is recorded as DOID:0050674[7].
- congenital bile acid synthesis defect's Orphanet ID is recorded as 485631[8].
- congenital bile acid synthesis defect's health specialty is recorded as gastroenterology[9].
- congenital bile acid synthesis defect's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050674[10].
- congenital bile acid synthesis defect's exact match is recorded as http://identifiers.org/doid/DOID:0050674[11].
- congenital bile acid synthesis defect's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_485631[12].
- congenital bile acid synthesis defect's UMLS CUI is recorded as C5680095[13].
- congenital bile acid synthesis defect's ICD-10-CM is recorded as K76.8[14].
- congenital bile acid synthesis defect's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- congenital bile acid synthesis defect's Mondo ID is recorded as MONDO_0018841[16].
- congenital bile acid synthesis defect's Experimental Factor Ontology ID is recorded as 0009039[17].