Preferred Name | androgen insensitivity syndrome | |
Synonyms |
Feminisation - testicular testicular Feminization syndrome testicular feminization Androgen resistance syndrome Goldberg-Maxwell syndrome Goldberg - Maxwell syndrome Androgen-Insensitivity Syndrome |
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Definitions |
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. OMIM mapping confirmed by DO. [SN]. |
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ID |
http://purl.obolibrary.org/obo/DOID_4674 |
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comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD9CM:259.51 UMLS_CUI:C0039585 OMIM:300068 SNOMEDCT_US_2021_09_01:12313004 NCI:C27226 MESH:D013734 GARD:5803 ICD10CM:E34.5 ORDO:754 |
|
definition |
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. OMIM mapping confirmed by DO. [SN]. |
|
has narrower match |
MESH:D013734 |
|
has_alternative_id |
DOID:4672 |
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has_exact_synonym |
Feminisation - testicular testicular Feminization syndrome testicular feminization Androgen resistance syndrome Goldberg-Maxwell syndrome Goldberg - Maxwell syndrome Androgen-Insensitivity Syndrome |
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has_obo_namespace |
disease_ontology |
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IAO_0000115 |
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. |
|
id |
DOID:4674 |
|
in_subset | ||
label |
androgen insensitivity syndrome |
|
notation |
DOID:4674 |
|
note |
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. OMIM mapping confirmed by DO. [SN]. |
|
prefLabel |
androgen insensitivity syndrome |
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subClassOf |