Experimental Factor Ontology

Last uploaded: September 16, 2019
Preferred Name

Peutz-Jeghers syndrome

Synonyms

Peutz-Jeghers small bowel hamartoma

Peutz's syndrome

polyps-and-Spots syndrome

Polyps and spots syndrome

Peutz-Jeghers syndrome

periorificial lentiginosis syndrome

Jeghers-Peutz syndrome

polyposis, hamartomatous intestinal

colonic hamartomatous polyp

PJS

gastric Peutz-Jeghers polyp

Peutz Jeghers polyposis

Hamartomatous intestinal polyposis

polyps and spots syndrome

Peutz-Jeghers polyp of small intestine

hamartomatous intestinal polyposis

Peutz-Jeghers syndrome; PJS

lentiginosis, perioral

Peutz Jeghers colon polyp

Peutz Jeghers polyp

Definitions

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.

ID

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

closeMatch

http://linkedlifedata.com/resource/umls/id/C0456487

http://identifiers.org/snomedct/277161008

http://purl.obolibrary.org/obo/NCIT_C7755

http://identifiers.org/snomedct/157029009

http://linkedlifedata.com/resource/umls/id/C0265323

http://identifiers.org/snomedct/53633000

database_cross_reference

SCTID:54411001

ICD9:759.6

MSH:D010580

OMIM:175200

UMLS:C1333088

DOID:3852

UMLS:C0031269

MESH:D010580

GARD:0007378

MONDO:0008280

NCIT:C3324

ICD10:Q85.8

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.

definition_citation

orphanet

disease has feature

http://www.orpha.net/ORDO/Orphanet_98615

http://www.orpha.net/ORDO/Orphanet_183466

http://www.ebi.ac.uk/efo/EFO_1000470

http://www.orpha.net/ORDO/Orphanet_98587

exactMatch

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

http://identifiers.org/omim/175200

http://identifiers.org/mesh/D010580

http://identifiers.org/meddra/10034764

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

http://identifiers.org/snomedct/54411001

http://linkedlifedata.com/resource/umls/id/C1333088

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

http://purl.obolibrary.org/obo/Orphanet_2869

has_exact_synonym

Peutz-Jeghers small bowel hamartoma

Peutz's syndrome

Polyps and spots syndrome

Peutz-Jeghers syndrome

Jeghers-Peutz syndrome

colonic hamartomatous polyp

PJS

gastric Peutz-Jeghers polyp

Hamartomatous intestinal polyposis

polyps and spots syndrome

Peutz-Jeghers polyp of small intestine

hamartomatous intestinal polyposis

Peutz Jeghers colon polyp

Peutz Jeghers polyp

has_related_synonym

polyps-and-Spots syndrome

periorificial lentiginosis syndrome

polyposis, hamartomatous intestinal

Peutz Jeghers polyposis

Peutz-Jeghers syndrome; PJS

lentiginosis, perioral

id

Orphanet:2869

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#clingen

label

Peutz-Jeghers syndrome

notation

Orphanet:2869

prefLabel

Peutz-Jeghers syndrome

see also

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

subClassOf

http://www.orpha.net/ORDO/Orphanet_98615

http://www.orpha.net/ORDO/Orphanet_183466

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_363314

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_98587

http://purl.obolibrary.org/obo/MONDO_0015185

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2869 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_2869 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_2869 HOOM SAME_URI
http://www.orpha.net/ORDO/Orphanet_2869 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_2869 ORDO SAME_URI
http://purl.obolibrary.org/obo/DERMO_0000681 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.705 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_233 HRDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PK60.00 RCTV2 LOOM
http://www.gamuts.net/entity#Peutz_Jeghers_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_3852 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3852 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3852 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3852 NIFSTD LOOM
http://identifiers.org/omim/175200 RETO LOOM
http://identifiers.org/omim/175200 GEXO LOOM
http://identifiers.org/omim/175200 REXO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0008280 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.430.530.550.625 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17783 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.578.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.705 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010580 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/175200 OMIM LOOM
http://purl.jp/bio/4/id/200906063779670692 IOBC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3852 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54411001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D010580 MESH LOOM
http://purl.bioontology.org/ontology/RCD/PK60. RCD LOOM