Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PEUTZ-JEGHERS SYNDROME
Synonyms

POLYPOSIS, HAMARTOMATOUS INTESTINAL
ID

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

POLYPOSIS, HAMARTOMATOUS INTESTINAL

POLYPS-AND-SPOTS SYNDROME

PJS
cui

C0031269
Gene Locus

19p13.3
Gene Symbol

STK11

PJS

LKB1
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

175200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PEUTZ-JEGHERS SYNDROME
Scope Statement

Caused by mutations in the serine/threonine protein kinase 11 gene (STK11, 602216.0001) [MOLECULAR BASIS]

Spots occur in 95% of patients but can be absent [MISCELLANEOUS]

Pigmented spots appear in infancy through childhood and fade in adulthood [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/54411001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D010580 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10034764 MDRGER CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000632483 PDQ CUI
http://purl.bioontology.org/ontology/CSP/1248-3971 CRISP CUI
http://purl.bioontology.org/ontology/CSP/2010-0179 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002382 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.89 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D010580 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10034764 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54411001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PK60. RCD CUI
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://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://www.owl-ontologies.com/NPOntology.owl#DOID_3852 NATPRO LOOM