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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,
raf1,
ptpn11,
nras,
kras
| MONDO:0018997 - Noonan syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee