Medical Subject Headings

Last uploaded: November 18, 2019
Preferred Name

Peutz-Jeghers Syndrome

Synonyms

Peutz Jegher's Syndrome

Definitions

A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

ID

http://purl.bioontology.org/ontology/MESH/D010580

altLabel

Peutz Jegher's Syndrome

Intestinal Polyposis, Hamartomatous

Polyps-and-Spots Syndrome

Polyps and Spots Syndrome

Peutz Jeghers Syndrome

Polyps-and-Spots Syndromes

Peutz-Jeghers Polyposis

Peutz Jeghers Polyposis

Periorificial Lentiginosis Syndromes

Syndromes, Polyps-and-Spots

Peutz-Jegher's Syndrome

Polyposis, Hamartomatous Intestinal

Hamartomatous Intestinal Polyposes

Hamartomatous Intestinal Polyposis

Syndromes, Periorificial Lentiginosis

Intestinal Polyposes, Hamartomatous

Perioral Lentiginosis

Syndrome, Periorificial Lentiginosis

Lentiginosis, Perioral

Polyposes, Hamartomatous Intestinal

Syndrome, Polyps-and-Spots

Polyposis, Peutz-Jeghers

Syndrome, Peutz-Jeghers

Lentiginoses, Perioral

Perioral Lentiginoses

Peutz-Jegher Syndrome

Periorificial Lentiginosis Syndrome

Syndrome, Peutz-Jegher's

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0031269

DC

1

definition

A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

DX

19650101

HN

65; was see under POLYPI (now POLYPS) 1963-64

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D061325

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D009396

http://purl.bioontology.org/ontology/MESH/D017253

http://purl.bioontology.org/ontology/MESH/D016864

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D006223

http://purl.bioontology.org/ontology/MESH/D058249

http://purl.bioontology.org/ontology/MESH/D004416

http://purl.bioontology.org/ontology/MESH/D003123

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D005097

http://purl.bioontology.org/ontology/MESH/D009377

http://purl.bioontology.org/ontology/MESH/D011125

Machine permutation

65; was see under POLYPI (now POLYPS) 1963-64

MDA

19990101

MMR

20180629

MN

C17.800.621.430.530.550.625

C06.405.469.578.750

C04.700.633

C16.320.700.667

notation

D010580

prefLabel

Peutz-Jeghers Syndrome

TERMUI

T769778

T031235

T769777

T031234

T530204

T530205

T031236

TH

NLM (2004)

NLM (2011)

NLM (1993)

NLM (1965)

UNK (19XX)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D007911

http://purl.bioontology.org/ontology/MESH/D044483

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http://purl.bioontology.org/ontology/CSP/2010-0179 CRISP CUI
http://www.orpha.net/ORDO/Orphanet_2869 EFO LOOM
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://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 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3852 BAO 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/NDFRT/N0000002382 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/54411001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9562 OCHV LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000632483 PDQ CUI
http://purl.obolibrary.org/obo/MONDO_0008280 MONDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10034764 MDRFRE CUI
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://purl.bioontology.org/ontology/OMIM/602216 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1248-3971 CRISP CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.578.750 RH-MESH LOOM
http://purl.bioontology.org/ontology/MSHFRE/D010580 MSHFRE CUI
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/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031269 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/175200 OMIM CUI
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 CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54411001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/PK60. RCD CUI
http://purl.bioontology.org/ontology/RCD/PK60. RCD LOOM