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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/400044
http://purl.bioontology.org/ontology/OMIM/400044
|
|---|---|
| Preferred Name | 46,XY SEX REVERSAL 1 |
| Synonyms |
46,XY TRUE HERMAPHRODITISM, SRY-RELATED
46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY
SRVX, FORMERLY
SRXY1
TDFX, FORMERLY
SEX-REVERSING LOCUS ON X, FORMERLY
46,XY SEX REVERSAL, SRY-RELATED
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
46,XY TRUE HERMAPHRODITISM, SRY-RELATED
46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY
SRVX, FORMERLY
SRXY1
TDFX, FORMERLY
SEX-REVERSING LOCUS ON X, FORMERLY
46,XY SEX REVERSAL, SRY-RELATED
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|---|---|
| prefLabel | 46,XY SEX REVERSAL 1
|
| Gene Symbol |
SRY
SRXY1
SRXX1
TDY
TDF
|
| notation | 400044
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| Scope Statement | Highly variable intrafamilial penetrance, with many 46,XY carriers developing into normal fertile males [MISCELLANEOUS]
Includes report of 1 patient designated as having true hermaphroditism [MISCELLANEOUS]
Some patients exhibit stigmata of Turner syndrome [MISCELLANEOUS]
Caused by mutation in the sex-determining region gene (SRY, 480000.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 306100
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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
|
| cui |
C2748896
C2748897
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