| Metadata | |
|---|---|
| ID | DOID:3490 |
| Name | Noonan syndrome |
| 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. https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome, https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome, https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition, https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:88327006 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Turner's phenotype, karyotype normal [EXACT] |
| Parent Relationships |
is_a RASopathy is_a monogenic disease |
| Subclass Logical Relationships |
has symptom some short stature has symptom some bleeding disease has basis in some gene |