Turner syndrome

Summary
Synonym
  • Bonnevie-Ullrich syndrome
  • Gonadal dysgenesis - Turner
  • Karyotype 45, X
  • Monosomy X
  • XO syndrome
  • monosomy X syndrome
Definition
A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
Super Class
gonadal dysgenesis
External Links
Disease Ontology
DOID:3491
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5226 PGD phosphogluconate dehydrogenase
6716 SRD5A2 steroid 5 alpha-reductase 2
7841 MOGS mannosyl-oligosaccharide glucosidase
9126 SMC3 structural maintenance of chromosomes 3
10329 RXYLT1 ribitol xylosyltransferase 1

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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