Medical Subject Headings

Last uploaded: November 5, 2019
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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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3852 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/602216 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD11CN/LD2D.0 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/175200 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/175200 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 International Classification of Diseases, Version 10 - Clinical Modification CUI