congenital bile acid synthesis defect

congenital bile acid synthesis defect

http://purl.obolibrary.org/obo/DOID_0050674

A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. [ http://purl.obolibrary.org/obo/ECO_0007636 url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ url:https://www.ncbi.nlm.nih.gov/pubmed/12543708 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency

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This is just here as a test because I lose it

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database cross reference

ICD10CM:K76.8
ORDO:485631

Subsets

DO_rare_slim

acronym

CBA

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

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disease_ontology

DOID:0050674

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Subclass of:

steroid inherited metabolic disorder
physical disorder
disease has basis in some Abnormality of prenatal development or birth