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LEOPARD syndrome 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.
Uniprot Description A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0013380:  LEOPARD syndrome 3
DOID:0080550: 
UMLS:C3150971: