National Cancer Institute Thesaurus

Last uploaded: August 27, 2019
Preferred Name

Peutz-Jeghers Syndrome

Synonyms

Jeghers-Peutz Syndrome

PJS

Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome

Peutz's Syndrome

Definitions

An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324

ALT_DEFINITION

A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer.

code

C3324

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156953

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159416

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

Contributing_Source

CPTAC

DEFINITION

An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome.

FULL_SYN

Jeghers-Peutz Syndrome

PJS

Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome

Peutz's Syndrome

label

Peutz-Jeghers Syndrome

Legacy_Concept_Name

Peutz-Jeghers_Syndrome

Maps_To

Peutz-Jeghers Disease

Preferred_Name

Peutz-Jeghers Syndrome

prefixIRI

ncit:C3324

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0031269

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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http://www.orpha.net/ORDO/Orphanet_2869 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_2869 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2869 ORDO LOOM
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://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