RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1; PAIS; Partial Androgen Insensitivities; Partial Androgen Insensitivity; Partial Androgen-Insensitivity Syndromes; Reifenstein Syndrome; Reifenstein's Syndrome; Reifensteins Syndrome
narrow_synonym:
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome