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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/400045
http://purl.bioontology.org/ontology/OMIM/400045
|
|---|---|
| Preferred Name | 46,XX SEX REVERSAL 1 |
| Synonyms |
XX MALE, SRY-POSITIVE
46,XX SEX REVERSAL, SRY-POSITIVE
OVOTESTICULAR DISORDER OF SEX DEVELOPMENT
46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE
OVOTESTICULAR DSD
46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE
SRXX1
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
XX MALE, SRY-POSITIVE
46,XX SEX REVERSAL, SRY-POSITIVE
OVOTESTICULAR DISORDER OF SEX DEVELOPMENT
46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE
OVOTESTICULAR DSD
46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE
SRXX1
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT
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|---|---|
| prefLabel | 46,XX SEX REVERSAL 1
|
| Gene Symbol |
SRY
SRXY1
SRXX1
TDY
TDF
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| notation | 400045
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| Scope Statement | Phenotypic variability, with some patients presenting as 46,XX males and others as 46,XX true hermaphrodites [MISCELLANEOUS]
Caused by translocation of a segment of the Y chromosome containing the sex-determining region Y gene (SRY, 480000) to the X chromosome [MOLECULAR BASIS]
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| OMIM MimType Value | pound
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| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 235600
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| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | Yp11.3
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| tui |
T047
T019
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| cui | C2748895
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