androgen insensitivity syndrome

Summary
Synonym
  • Androgen resistance syndrome
  • Androgen-Insensitivity Syndrome
  • Feminisation - testicular
  • Goldberg - Maxwell syndrome
  • Goldberg-Maxwell syndrome
  • testicular Feminization syndrome
  • testicular feminization
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.
Super Class
disorder of sexual development
Disease Ontology
DOID:4674
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
367 AR androgen receptor
2288 FKBP4 FKBP prolyl isomerase 4
11143 KAT7 lysine acetyltransferase 7

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024