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Proteus syndrome

Disease Summary
Associated Targets (2)
Tchem

2


GARD Rare
Mondo Description Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Uniprot Description A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes.
Mondo Term and Equivalent IDs
MONDO:0008318:  Proteus syndrome
GARD:0007475: 
MESH:D016715: 
NCIT:C85032: 
Orphanet:744: 
SCTID:23150001: 
UMLS:C0085261: