Preferred Name |
partial androgen insensitivity syndrome |
Synonyms |
Reifenstein syndrome |
Definitions |
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
ID |
http://purl.obolibrary.org/obo/DOID_0080776 |
database_cross_reference |
OMIM:312300 ORDO:90797 GARD:5692 |
definition |
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
has exact synonym |
Reifenstein syndrome |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0080776 |
in_subset | |
label |
partial androgen insensitivity syndrome |
notation |
DOID:0080776 |
prefLabel |
partial androgen insensitivity syndrome |
subClassOf |