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Summary Literature (2)
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 : map2k1, rasa2, mras, lztr1, sos2, sos1, braf, rit1, rras2, a2ml1, kras, raf1, ptpn11, nras

Mondo Disease Ontology (on Monarch Initiative):
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)