congenital bile acid synthesis defect 3
congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12
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congenital bile acid synthesis defect 3
Summary
congenital bile acid synthesis defect 3 is a rare disease[1].
Key Facts
- congenital bile acid synthesis defect 3's instance of is recorded as rare disease[2].
- congenital bile acid synthesis defect 3's instance of is recorded as class of disease[3].
- congenital bile acid synthesis defect 3's subclass of is recorded as congenital bile acid synthesis defect[4].
- congenital bile acid synthesis defect 3's subclass of is recorded as genetic disease[5].
- congenital bile acid synthesis defect 3's MeSH descriptor ID is recorded as C566340[6].
- congenital bile acid synthesis defect 3's OMIM ID is recorded as 613812[7].
- congenital bile acid synthesis defect 3's Disease Ontology ID is recorded as DOID:0111070[8].
- congenital bile acid synthesis defect 3's Orphanet ID is recorded as 79302[9].
- congenital bile acid synthesis defect 3's genetic association is recorded as CYP7B1[10].
- congenital bile acid synthesis defect 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111070[11].
- congenital bile acid synthesis defect 3's exact match is recorded as http://identifiers.org/doid/DOID:0111070[12].
- congenital bile acid synthesis defect 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79302[13].
- congenital bile acid synthesis defect 3's UMLS CUI is recorded as C3151147[14].
- congenital bile acid synthesis defect 3's UMLS CUI is recorded as C4304715[15].
- congenital bile acid synthesis defect 3's ICD-10-CM is recorded as K76.8[16].
- congenital bile acid synthesis defect 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- congenital bile acid synthesis defect 3's Mondo ID is recorded as MONDO_0013439[18].
- congenital bile acid synthesis defect 3's UniProt disease ID is recorded as DI-00331[19].