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Noonan syndrome with multiple lentigines

Disease Summary
Associated Targets (9)
Tclin

5

Tchem

2

Tbio

2


GARD Rare
Mondo Description Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
Mondo Term and Equivalent IDs
MONDO:0007893:  Noonan syndrome with multiple lentigines
GARD:0001100: 
MESH:D044542: 
NCIT:C84820: 
OMIMPS:151100: 
Orphanet:500: 
SCTID:111306001: 
UMLS:C0175704: 
UMLS:CN074218: