loading...| Preferred Name | Androgen Insensitivity Syndrome | |
| Synonyms |
Testicular Feminization Syndrome Androgen Resistance Syndrome Androgen Insensitivity Syndrome |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27226 |
|
| ALT_DEFINITION |
Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene. |
|
| code |
C27226 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| 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. |
|
| FULL_SYN |
Testicular Feminization Syndrome Androgen Resistance Syndrome Androgen Insensitivity Syndrome |
|
| label |
Androgen Insensitivity Syndrome |
|
| Legacy Concept Name |
Testicular_Feminization_Syndrome |
|
| Preferred_Name |
Androgen Insensitivity Syndrome |
|
| prefixIRI |
Thesaurus:C27226 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0039585 |
|
| subClassOf |