loading...| Preferred Name |
46,XY sex reversal 3 |
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| Synonyms |
disorder of sex development, 46,XY, NR5A1-related 46,XY sex reversal, partial or complete, NR5A1-related sex reversal, XY, with or without adrenal failure 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure SRXY3 |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111772 |
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| alternative label |
disorder of sex development, 46,XY, NR5A1-related 46,XY sex reversal, partial or complete, NR5A1-related sex reversal, XY, with or without adrenal failure 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure SRXY3 |
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| 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. |
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| has exact synonym |
disorder of sex development, 46,XY, NR5A1-related 46,XY sex reversal, partial or complete, NR5A1-related sex reversal, XY, with or without adrenal failure 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure SRXY3 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0111772 |
|
| label |
46,XY sex reversal 3 |
|
| notation |
DOID:0111772 |
|
| note |
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. |
|
| preferred label |
46,XY sex reversal 3 |
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| prefLabel |
46,XY sex reversal 3 |
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| subClassOf |