Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	Peutz-Jeghers syndrome
Synonyms	polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral 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://purl.obolibrary.org/obo/MONDO_0008280
disease has feature	http://purl.obolibrary.org/obo/MONDO_0020178 http://purl.obolibrary.org/obo/MONDO_0006365 http://purl.obolibrary.org/obo/MONDO_0020203 http://purl.obolibrary.org/obo/MONDO_0019289
has_exact_synonym	polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS
has_related_synonym	polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral polyps-and-Spots syndrome
label	Peutz-Jeghers syndrome
prefixIRI	MONDO:0008280
prefLabel	Peutz-Jeghers syndrome
seeAlso	https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome
textual 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.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017128 http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0015185 http://purl.obolibrary.org/obo/MONDO_0018188 http://purl.obolibrary.org/obo/MONDO_0021118

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008280	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008280	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008280	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_3852	DOID	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://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://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