loading...| Preferred Name |
46,XY sex reversal 3 |
| Synonyms |
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure sex reversal, XY, with or without adrenal failure SRXY3 46,XY sex reversal, partial or complete, NR5A1-related disorder of sex development, 46,XY, NR5A1-related |
| Definitions |
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111772 |
| database_cross_reference |
OMIM:612965 |
| definition |
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. |
| has exact synonym |
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure sex reversal, XY, with or without adrenal failure SRXY3 46,XY sex reversal, partial or complete, NR5A1-related disorder of sex development, 46,XY, NR5A1-related |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111772 |
| label |
46,XY sex reversal 3 |
| notation |
DOID:0111772 |
| prefLabel |
46,XY sex reversal 3 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/612965 | Online Mendelian Inheritance in Man | LOOM |