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partial androgen insensitivity syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
Uniprot Description A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.
Mondo Term and Equivalent IDs
MONDO:0010720:  partial androgen insensitivity syndrome
GARD:0005692: 
ICD10:E34.52: 
MESH:C538435: 
NCIT:C120192: 
Orphanet:90797: 
SCTID:122811000119101: 
UMLS:CN035075: