Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PEUTZ-JEGHERS SYNDROME
Synonyms

PJS
ID

http://purl.bioontology.org/ontology/OMIM/175200
altLabel

PJS

POLYPS-AND-SPOTS SYNDROME

POLYPOSIS, HAMARTOMATOUS INTESTINAL
cui

C0031269
Gene Locus

19p13.3
Gene Symbol

LKB1

PJS

STK11
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU016111

http://purl.bioontology.org/ontology/OMIM/MTHU016092

http://purl.bioontology.org/ontology/OMIM/MTHU016098

http://purl.bioontology.org/ontology/OMIM/MTHU016096

http://purl.bioontology.org/ontology/OMIM/MTHU007934

http://purl.bioontology.org/ontology/OMIM/MTHU016094

http://purl.bioontology.org/ontology/OMIM/MTHU016088

http://purl.bioontology.org/ontology/OMIM/MTHU015030

http://purl.bioontology.org/ontology/OMIM/MTHU016102

http://purl.bioontology.org/ontology/OMIM/MTHU016108

http://purl.bioontology.org/ontology/OMIM/MTHU016106

http://purl.bioontology.org/ontology/OMIM/MTHU016100

http://purl.bioontology.org/ontology/OMIM/MTHU016104

http://purl.bioontology.org/ontology/OMIM/MTHU016114

http://purl.bioontology.org/ontology/OMIM/MTHU016110

http://purl.bioontology.org/ontology/OMIM/MTHU036458

http://purl.bioontology.org/ontology/OMIM/MTHU037105

http://purl.bioontology.org/ontology/OMIM/MTHU016095

http://purl.bioontology.org/ontology/OMIM/MTHU027394

http://purl.bioontology.org/ontology/OMIM/MTHU016087

http://purl.bioontology.org/ontology/OMIM/MTHU016105

http://purl.bioontology.org/ontology/OMIM/MTHU016093

http://purl.bioontology.org/ontology/OMIM/MTHU016099

http://purl.bioontology.org/ontology/OMIM/MTHU016097

http://purl.bioontology.org/ontology/OMIM/MTHU016107

http://purl.bioontology.org/ontology/OMIM/MTHU016103

http://purl.bioontology.org/ontology/OMIM/MTHU016109

http://purl.bioontology.org/ontology/OMIM/MTHU016113

http://purl.bioontology.org/ontology/OMIM/MTHU016101
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

175200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PEUTZ-JEGHERS SYNDROME
tui

T047
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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.bmicc.cn/ontology/ICD11CN/LD2D.0 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/D010580 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D010580 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 International Classification of Diseases, Version 10 - Clinical Modification CUI