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 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
427 ASAH1 N-acylsphingosine amidohydrolase 1
847 CAT catalase
952 CD38 CD38 molecule
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3636 INPPL1 inositol polyphosphate phosphatase like 1
4153 MBL2 mannose binding lectin 2
4907 NT5E 5'-nucleotidase ecto

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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