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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/201750
http://purl.bioontology.org/ontology/OMIM/201750
|
|---|---|
| Preferred Name | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS |
| Synonyms |
ABS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ABS1
|
|---|---|
| prefLabel | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
|
| Gene Symbol | POR
|
| Scope Statement | Caused by mutation in the cytochrome P450 oxidoreductase gene (POR, 124015.0001) [MOLECULAR BASIS]
Some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis [MISCELLANEOUS]
See also Antley-Bixler syndrome (ABS) with normal steroidogenesis (207410) [MISCELLANEOUS]
Majority of POR deficiency patients have an ABS-like phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 7q11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 201750
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150099
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |