Noonan syndrome (DOID:3490)
Alliance: disease page
Synonyms: Turner's phenotype, karyotype normal
Alt IDs: ICD10CM:Q87.19, MESH:D009634, NCI:C34854, OMIM:PS163950, ORDO:648, UMLS_CUI:C0028326
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.