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DO Term : congenital bile acid synthesis defect [DOID:0050674] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

synonyms:
CBA,
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency,
ICD10CM:K76.8,
cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency,
ORDO:485631

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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