If you’ve ever found our data helpful, please take our impact survey (15 min). Your replies will help keep the data flowing to the scientific community.


Take Survey

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://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome http://purl.obolibrary.org/obo/ECO_0007637 url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition ]

Synonyms: Turner's phenotype, karyotype normal

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS_CUI:C0028326
  • MESH:D009634
  • ICD10CM:Q87.19
  • OMIM:PS163950
  • ORDO:648
  • GARD:10955
  • SNOMEDCT_US_2020_09_01:88327006
  • NCI:C34854
Subsets

DO_FlyBase_slim, DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:3490