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Peutz-Jeghers syndrome

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1570 (MONDO:NORD)
  • NCIT:C3324 (MONDO:equivalentTo)
  • DOID:3852 (MONDO:equivalentTo)
  • UMLS:C1333088 (MONDO:equivalentObsolete)
  • ICD9:759.6 (MONDO:relatedTo)
  • GARD:7378 (Orphanet:2869)
  • MESH:D010580 (Orphanet:2869/e)
  • MedDRA:10034764 (Orphanet:2869/e)
  • Orphanet:2869 (OMIM:175200)
  • SCTID:54411001 (MONDO:equivalentTo)
  • OMIM:175200 (Orphanet:2869/e)
  • UMLS:C0031269 (Orphanet:2869/e)
  • NCIT:C4733 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10034764

exactMatch

http://identifiers.org/snomedct/54411001

http://identifiers.org/mesh/D010580

https://omim.org/entry/175200

http://purl.obolibrary.org/obo/NCIT_C3324

http://purl.obolibrary.org/obo/DOID_3852

http://www.orpha.net/ORDO/Orphanet_2869

http://linkedlifedata.com/resource/umls/id/C0031269

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

https://search.clinicalgenome.org/kb/conditions/MONDO:0008280

Term relations