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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/612965
http://purl.bioontology.org/ontology/OMIM/612965
|
|---|---|
| Preferred Name | 46,XY SEX REVERSAL 3 |
| Synonyms |
46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE
DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
SRXY3
SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE
DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
SRXY3
SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE
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|---|---|
| prefLabel | 46,XY SEX REVERSAL 3
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| Gene Symbol |
SRXX4
SF1
SRXY3
FTZ1
POF7
AD4BP
SPGF8
NR5A1
FTZF1
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| notation | 612965
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| Scope Statement | Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1, 184757.0001) [MOLECULAR BASIS]
Familial cases may have affected 46,XX family members who exhibit premature ovarian failure (see POF7, 612964) [MISCELLANEOUS]
Patients are 46,XY individuals who may be phenotypically female [MISCELLANEOUS]
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| OMIM MimType Value | pound
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| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
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| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 9q33
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| tui | T019
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| cui | C3489793
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