Preferred Name | Androgen Insensitivity Syndrome | |
Synonyms |
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Definitions |
A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C27226 |
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ALT_DEFINITION |
Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene. |
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code |
C27226 |
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Contributing_Source |
Cellosaurus NICHD |
|
definition |
A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. |
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in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 |
|
label |
Androgen Insensitivity Syndrome |
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Legacy Concept Name |
Testicular_Feminization_Syndrome |
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Preferred_Name |
Androgen Insensitivity Syndrome |
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prefixIRI |
NCIT:C27226 |
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prefLabel |
Androgen Insensitivity Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0039585 |
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subClassOf |