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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://ghr.nlm.nih.gov/condition/noonan-syndrome#definition, https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome
Xrefs

GARD:10955

ICD10CM:Q87.19

MESH:D009634

NCI:C34854

OMIM:PS163950

ORDO:648

SNOMEDCT_US_2021_03_01:88327006

UMLS_CUI:C0028326

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Turner's phenotype, karyotype normal [EXACT]

Parent Relationships

is_a RASopathy

is_a monogenic disease

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