Orphanet Rare Disease Ontology

Last uploaded: August 20, 2019
Preferred Name

Peutz-Jeghers syndrome

Synonyms

Polyps and spots syndrome

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

alternative_term

Polyps and spots syndrome

PJS

Hamartomatous intestinal polyposis

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

hasDbXref

ICD-10:Q85.8

OMIM:175200

UMLS:C0031269

MeSH:D010580

MedDRA:10034764

label

Peutz-Jeghers syndrome

notation

ORPHA:2869

part_of

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

http://www.orpha.net/ORDO/Orphanet_79375

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_271835

http://www.orpha.net/ORDO/Orphanet_104010

prefLabel

Peutz-Jeghers syndrome

treeView

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

http://www.orpha.net/ORDO/Orphanet_79375

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_271835

http://www.orpha.net/ORDO/Orphanet_104010

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

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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 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2869 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_2869 HOOM 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 REST
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