Visualize Submit Comment

Metadata
ID	DOID:0080776
Name	partial androgen insensitivity syndrome
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. https://pubmed.ncbi.nlm.nih.gov/26303084/
Xrefs	GARD:5692 OMIM:312300 ORDO:90797
Subsets	DO_rare_slim
Synonyms	Reifenstein syndrome [EXACT]
Parent Relationships	is_a androgen insensitivity syndrome is_a X-linked recessive disease