Congenital Bile Acid Synthesis Defect
Disease ID: disease_node_16836
Connections displayed (default: 10).
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| Dbxref | ICD10CM:K76.8, ORDO:485631 |
|---|---|
| Subclassof | DOID_0080015, DOID_1701 |
| Data Source | DOID |
| Synonyms | 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, CBA, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency |
| Doid Label | congenital bile acid synthesis defect |
| Doid Description | A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predomitly in the liver. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_16836 |
| Doid Id | DOID_0050674 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Bile Acid Synthesis Defect |
- Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Bile Acid Synthesis Defect 6(ID:disease_node_16837) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Steroid Metabolism, Inborn Errors(ID:disease_node_11191) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Bile Acid Synthesis Defect 5(ID:disease_node_16838) (Disease)