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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607765
http://purl.bioontology.org/ontology/OMIM/607765
|
|---|---|
| Preferred Name | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
| Synonyms |
CBAS1
3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CBAS1
3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
|
|---|---|
| prefLabel | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
|
| Gene Symbol |
HSD3B7
CBAS1
|
| Scope Statement | Favorable response to oral bile acid therapy [MISCELLANEOUS]
Neonatal onset [MISCELLANEOUS]
Caused by mutation in the 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase gene (HSD3B7, 607764.0001) [MOLECULAR BASIS]
Caused by inborn error in bile acid synthesis [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p12-p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607765
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1843116
|
| Moved from | 210450
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |