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

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:3852 (MONDO:equivalentTo)
  • NANDO:2200917 (https://orcid.org/0000-0003-0011-764X)
  • NORD:1570 (MONDO:NORD)
  • GARD:7378 (MONDO:GARD)
  • SCTID:54411001 (MONDO:equivalentTo)
  • Orphanet:2869 (OMIM:175200)
  • MEDGEN:18404 (MONDO:equivalentTo)
  • ICD9:759.6 (MONDO:relatedTo)
  • MESH:D010580 (Orphanet:2869/e)
  • UMLS:C0031269 (MONDO:equivalentTo)
  • NCIT:C3324 (MONDO:equivalentTo)
  • MedDRA:10034764 (Orphanet:2869/e)
  • icd11.foundation:969253189 (Orphanet:2869)
  • OMIM:175200 (Orphanet:2869/e)
  • NCIT:C4733 (MONDO:relatedTo)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease

abbreviation
PJS [ Orphanet:2869 NCIT:C3324 https://omim.org/entry/175200 MONDO:Lexical ]

ClinGen label
Peutz-Jeghers syndrome [ icd11.foundation:969253189 DOID:3852 MONDO:Lexical Orphanet:2869 NCIT:C3324 https://omim.org/entry/175200 ]

closeMatch

http://identifiers.org/meddra/10034764

curated content resource

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

exactMatch

http://identifiers.org/snomedct/54411001

http://identifiers.org/medgen/18404

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

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/969253189

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