A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. [ url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome http://purl.obolibrary.org/obo/ECO_0007637 ]
Synonyms: Turner's phenotype, karyotype normal
Term information
- MIM:PS163950
- SNOMEDCT_US_2023_03_01:88327006
- MESH:D009634
- ORDO:648
- UMLS_CUI:C0028326
- NCI:C34854
- GARD:10955
- ICD10CM:Q87.19
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
Term relations
- RASopathy
- monogenic disease
- disease has basis in some gene
- has symptom some short stature
- has symptom some bleeding