Human Disease Ontology

Last uploaded: February 28, 2024
Preferred Name

Peutz-Jeghers syndrome

Synonyms

Peutz Jeghers polyp

Definitions

OMIM mapping confirmed by DO. [SN]. An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2023_03_01:157029009

OMIM:175200

SNOMEDCT_US_2023_03_01:53633000

UMLS_CUI:C0031269

UMLS_CUI:C0265323

ICD10CM:Q85.89

UMLS_CUI:C0456487

SNOMEDCT_US_2023_03_01:277161008

MESH:D010580

GARD:7378

NCI:C3324

NCI:C4733

NCI:C7755

ORDO:2869

definition

An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.

has exact synonym

Peutz Jeghers polyp

peutz-jeghers small bowel hamartoma

gastric Peutz-Jeghers polyp

Colonic hamartomatous polyp

Peutz-Jeghers polyp of small Intestine

Peutz Jeghers colon polyp

has_alternative_id

DOID:4133

DOID:4134

DOID:6252

DOID:6253

has_obo_namespace

disease_ontology

id

DOID:3852

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Peutz-Jeghers syndrome

notation

DOID:3852

prefLabel

Peutz-Jeghers syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_5295

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3852 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3852 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3852 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3852 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3852 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_3852 FNS-H SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.430.530.550.625 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D010580 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010580 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0011571 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9562 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_233 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.578.750 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17783 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_2869 ORDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA LOOM
urn:agi-folder:peutz-jeghers_syndrome BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.705 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008280 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008280 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008280 DOVES LOOM
http://www.gamuts.net/entity#Peutz_Jeghers_syndrome GAMUTS LOOM
http://purl.jp/bio/4/id/200906063779670692 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C3324 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54411001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/PK60.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3852 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3852 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3852 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_175200 CCO LOOM
http://identifiers.org/omim/175200 REXO LOOM
http://identifiers.org/omim/175200 GEXO LOOM
http://identifiers.org/omim/175200 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0000681 DERMO LOOM
http://id.nlm.nih.gov/mesh/D010580 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.705 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/PK60. RCD LOOM
urn:agi-pathway:uuid-f1a35eca-5871-4446-9029-c42475ab0e8e BPT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031269 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038156 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/175200 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3852 NATPRO LOOM
http://www.gamuts.net/entity#Peutz_Jeghers_syndrome GAMUTS REST