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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/154230
http://purl.bioontology.org/ontology/OMIM/154230
|
|---|---|
| Preferred Name | 46,XY SEX REVERSAL 4 |
| Synonyms |
46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION
CHROMOSOME 9p24.3 DELETION SYNDROME
SRXY4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION
CHROMOSOME 9p24.3 DELETION SYNDROME
SRXY4
|
|---|---|
| prefLabel | 46,XY SEX REVERSAL 4
|
| Gene Symbol |
SRXY4
C9DELp24.3
DEL9p24.3
|
| Scope Statement | Contiguous gene deletion syndrome caused by deletion of 9p24.3 [MOLECULAR BASIS]
46,XY patients vary from complete female external genitalia to ambiguous genitalia to male-type external genitalia with hypospadias [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T019
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| Gene Locus | 9p24.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 154230
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2752149
|
| Moved from | 273350
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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