loading...| Preferred Name | 46 XY gonadal dysgenesis | |
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| Definitions |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14448 |
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| comment |
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
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| definition |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. |
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| hasDbXref |
OMIM:607080 OMIM:612965 OMIM:613080 OMIM:614279 UMLS_CUI:C0018054 OMIM:613762 OMIM:400044 NCI:C120198 OMIM:154230 MESH:D006061 OMIM:616067 OMIM:300018 OMIM:233420 |
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| hasExactSynonym |
Swyer syndrome 46,XY SEX REVERSAL Pure gonadal dysgenesis 46,XY |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:14448 |
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| imported from | ||
| label |
46 XY gonadal dysgenesis |
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| prefixIRI |
DOID:14448 |
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| prefLabel |
46 XY gonadal dysgenesis |
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| subClassOf |
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