Noonan syndrome

Summary
Synonym
  • Turner's phenotype, karyotype normal
Definition
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Super Class
RASopathy monogenic disease
External Links
Disease Ontology
DOID:3490
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
11285 B4GALT7 beta-1,4-galactosyltransferase 7
56994 CHPT1 choline phosphotransferase 1
64132 XYLT2 xylosyltransferase 2
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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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