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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/612964
http://purl.bioontology.org/ontology/OMIM/612964
|
|---|---|
| Preferred Name | PREMATURE OVARIAN FAILURE 7 |
| Synonyms |
POF7
ADRENAL INSUFFICIENCY, NR5A1-RELATED
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
POF7
ADRENAL INSUFFICIENCY, NR5A1-RELATED
|
|---|---|
| prefLabel | PREMATURE OVARIAN FAILURE 7
|
| Gene Symbol |
SRXX4
SF1
SRXY3
FTZ1
POF7
AD4BP
SPGF8
NR5A1
FTZF1
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|
| notation | 612964
|
| Scope Statement | Familial cases may have affected 46,XY family members who exhibit sex reversal (see SRXY3, 612965) [MISCELLANEOUS]
Caused by mutation in the nuclear receptor subfamily 5, group A, member-1 gene (NR5A1, 184757.0011) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 9q33
|
| tui | T047
|
| cui |
C4479664
C2751825
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