| Term Name: | Noonan syndrome |
|---|---|
| Synonyms: | 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. |
| Ontology: | Human Disease [DOID:3490] ( DOID:3490 ) |