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Peutz-Jeghers syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008280

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. [ Orphanet:2869 ]

Term info

database cross reference
  • UMLS:C0031269 (Orphanet:2869/e)
  • NCIT:C4733 (MONDO:relatedTo)
  • GARD:0007378 (MONDO:equivalentTo)
  • UMLS:C1333088 (MONDO:equivalentObsolete)
  • MESH:D010580 (Orphanet:2869/e)
  • NCIT:C3324 (MONDO:equivalentTo)
  • MedDRA:10034764 (Orphanet:2869/e)
  • OMIM:175200 (Orphanet:2869/e)
  • SCTID:54411001 (MONDO:equivalentTo)
  • Orphanet:2869 (OMIM:175200)
  • ICD9:759.6 (MONDO:relatedTo)
  • DOID:3852 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
PJS [ Orphanet:2869 OMIM:175200 NCIT:C3324 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10034764

definition

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.

exactMatch

http://identifiers.org/snomedct/54411001, http://identifiers.org/mesh/D010580, https://omim.org/entry/175200, http://purl.obolibrary.org/obo/DOID_3852, http://purl.obolibrary.org/obo/NCIT_C3324, http://purl.obolibrary.org/obo/Orphanet_2869, http://linkedlifedata.com/resource/umls/id/C0031269

has exact synonym

gastric Peutz-Jeghers polyp, hamartomatous intestinal polyposis, PJS, Jeghers-Peutz syndrome, Peutz-Jeghers polyp of small intestine, Peutz Jeghers colon polyp, colonic hamartomatous polyp, Peutz's syndrome, Peutz-Jeghers small bowel hamartoma, Peutz-Jeghers syndrome, polyps and spots syndrome

has related synonym

polyps-and-Spots syndrome, polyposis, hamartomatous intestinal, Peutz Jeghers polyposis, lentiginosis, perioral, periorificial lentiginosis syndrome

id

MONDO:0008280

seeAlso

https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome