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
Disease Ontology
DOID:3490
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3845 KRAS KRAS proto-oncogene, GTPase
5781 PTPN11 protein tyrosine phosphatase non-receptor type 11
5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase
6654 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
54169 Kat6b K(lysine) acetyltransferase 6B

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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: April 7, 2025