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Peutz-Jeghers syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.
Uniprot Description An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer.
Mondo Term and Equivalent IDs
MONDO:0008280:  Peutz-Jeghers syndrome
GARD:0007378: 
MESH:D010580: 
NCIT:C3324: 
Orphanet:2869: 
SCTID:54411001: 
UMLS:C0031269: 
UMLS:C1333088: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)