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 1 - 10 of 35 in total
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
142 PARP1 poly(ADP-ribose) polymerase 1
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1605 DAG1 dystroglycan 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