OBO ID: DOID:4674
Term Name: androgen insensitivity syndrome Search Ontology:
Synonyms:
  • Androgen resistance syndrome
  • Androgen-Insensitivity Syndrome
  • Feminisation - testicular
  • Goldberg - Maxwell syndrome
  • Goldberg-Maxwell syndrome
  • testicular feminization
  • testicular Feminization syndrome
Definition: A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. (3)
References:
  • GARD:5803
  • ICD10CM:E34.5
  • ICD9CM:259.51
  • MESH:D013734
  • NCI:C27226
  • OMIM:300068
  • ORDO:754
  • SNOMEDCT_US_2023_03_01:12313004
  • UMLS_CUI:C0039585
Ontology: Human Disease   ( DOID:4674 )
Relationships
is a type of:
has subtype:
OTHER androgen insensitivity syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AR Androgen insensitivity 300068
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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