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Noonan syndrome

Disease Summary
Associated Targets (20)
Tbio

8

Tclin

7

Tchem

5


GARD Rare
Mondo Description Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.
Disease Ontology Description A syndrome that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Mondo Term and Equivalent IDs
MONDO:0018997:  Noonan syndrome
GARD:0010955: 
MESH:D009634: 
NCIT:C34854: 
OMIMPS:163950: 
Orphanet:648: 
SCTID:205824006: 
UMLS:C0028326: