congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption
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Summary
congenital bile acid synthesis defect 1 is a rare disease[1]. It is known by 8 alternative names across languages and contexts.[2]
Key Facts
- congenital bile acid synthesis defect 1's instance of is recorded as rare disease[3].
- congenital bile acid synthesis defect 1's instance of is recorded as class of disease[4].
- congenital bile acid synthesis defect 1 is a type of congenital bile acid synthesis defect[5].
- congenital bile acid synthesis defect 1 is a type of genetic disease[6].
- congenital bile acid synthesis defect 1's genetic association is recorded as HSD3B7[7].
- congenital bile acid synthesis defect 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111071[8].
- congenital bile acid synthesis defect 1's exact match is recorded as http://identifiers.org/doid/DOID:0111071[9].
- congenital bile acid synthesis defect 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79301[10].
- congenital bile acid synthesis defect 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
Why It Matters
congenital bile acid synthesis defect 1 is known by 8 alternative names across languages and contexts.[2]