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Legius syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.
Uniprot Description A disorder characterized mainly by cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities and attention deficit-hyperactivity.
Mondo Term and Equivalent IDs
MONDO:0012669:  Legius syndrome
GARD:0010714: 
MESH:C548032: 
Orphanet:137605: 
SCTID:703541007: 
UMLS:C1969623: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found