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
External Links
Disease Ontology
DOID:4674
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 46 of 46 in total
Gene ID Gene Symbol Description Source
51478 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7
64116 SLC39A8 solute carrier family 39 member 8
84649 DGAT2 diacylglycerol O-acyltransferase 2
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
148738 HJV hemojuvelin BMP co-receptor

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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: August 19, 2024