46,XY complete gonadal dysgenesis

Summary
Synonym
  • 46 XY gonadal dysgenesis
  • 46,XY sex reversal
  • Pure gonadal dysgenesis 46,XY
  • Swyer syndrome
Definition
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
Super Class
gonadal dysgenesis
Disease Ontology
DOID:14448
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57647 DHX37 DEAH-box helicase 37
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8IY37 Probable ATP-dependent RNA helicase DHX37

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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: March 31, 2025