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Proteus syndrome

Disease Summary
Associated Targets (2)
Tchem

2


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

558

Tchem

165

Tclin

114

Tdark

63

Tbio

43

Tclin

27

Tchem

23

Tdark

1

Tbio

30

Tchem

12

Tclin

10

Tdark

1

Children
Target Novelty (Tin-x)