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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

MIM:312300

ORDO:90797

Subsets

DO_rare_slim

Synonyms

Reifenstein syndrome [EXACT]

Parent Relationships

is_a androgen insensitivity syndrome

is_a X-linked recessive disease

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