loading...| Preferred Name |
46,XY SEX REVERSAL 3 |
|
| Synonyms |
46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/612965 |
|
| 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 |
|
| cui |
C3489793 |
|
| Gene Locus |
9q33 |
|
| Gene Symbol |
SRXX4 SF1 SRXY3 FTZ1 POF7 AD4BP SPGF8 NR5A1 FTZF1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019320 http://purl.bioontology.org/ontology/OMIM/MTHU068960 http://purl.bioontology.org/ontology/OMIM/MTHU005254 http://purl.bioontology.org/ontology/OMIM/MTHU050419 http://purl.bioontology.org/ontology/OMIM/MTHU050418 http://purl.bioontology.org/ontology/OMIM/MTHU068956 http://purl.bioontology.org/ontology/OMIM/MTHU068958 http://purl.bioontology.org/ontology/OMIM/MTHU068957 http://purl.bioontology.org/ontology/OMIM/MTHU068955 http://purl.bioontology.org/ontology/OMIM/MTHU032222 http://purl.bioontology.org/ontology/OMIM/MTHU058461 http://purl.bioontology.org/ontology/OMIM/MTHU068961 http://purl.bioontology.org/ontology/OMIM/MTHU068959 http://purl.bioontology.org/ontology/OMIM/MTHU068964 http://purl.bioontology.org/ontology/OMIM/MTHU068963 http://purl.bioontology.org/ontology/OMIM/MTHU035498 http://purl.bioontology.org/ontology/OMIM/MTHU007204 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
612965 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
46,XY SEX REVERSAL 3 |
|
| 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] |
|
| tui |
T019 |