loading...| Preferred Name | complete androgen insensitivity syndrome | |
| Synonyms |
androgen insensitivity syndrome, complete complete androgen resistance syndrome CAIS |
|
| Definitions |
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0021023 |
|
| database_cross_reference |
DOID:0080775 NCIT:C120191 SCTID:368851000119102 Orphanet:99429 MEDGEN:183188 ICD10CM:E34.51 UMLS:C0936016 GARD:10597 |
|
| definition |
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. |
|
| exactMatch |
http://identifiers.org/snomedct/368851000119102 http://purl.obolibrary.org/obo/DOID_0080775 http://purl.bioontology.org/ontology/ICD10CM/E34.51 http://www.orpha.net/ORDO/Orphanet_99429 http://linkedlifedata.com/resource/umls/id/C0936016 |
|
| has_exact_synonym |
complete androgen resistance syndrome CAIS |
|
| has_related_synonym |
androgen insensitivity syndrome, complete |
|
| id |
MONDO:0021023 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
complete androgen insensitivity syndrome |
|
| notation |
MONDO:0021023 |
|
| preferred label |
complete androgen insensitivity syndrome |
|
| prefLabel |
complete androgen insensitivity syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome |
|
| subClassOf |