Noonan syndrome

Summary

DOID:3490 - Noonan syndrome

Disease Ontology 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.

Synonyms: Turner's phenotype, karyotype normal, Turner's phenotype, karyotype normal (disorder),

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: map2k1, rasa2, mras, lztr1, sos2, sos1, braf, rit1, rras2, a2ml1, kras, raf1, ptpn11, nras

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018997 - Noonan syndrome

MONDO:0018997 - Noonan syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): RASopathy (is_a), monogenic disease (is_a), syndrome (is_a)