Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

PAPILLON-LEFEVRE SYNDROME
Synonyms

PLS

KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA

PALS
ID

http://purl.bioontology.org/ontology/OMIM/245000
altLabel

PLS

KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA

PALS
cui

C0030360
Gene Locus

11q14.1-q14.3
Gene Symbol

CPPI

CTSC

PLS

HMS

PDON1

PALS

JPD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012007

http://purl.bioontology.org/ontology/OMIM/MTHU012004

http://purl.bioontology.org/ontology/OMIM/MTHU011991

http://purl.bioontology.org/ontology/OMIM/MTHU012005

http://purl.bioontology.org/ontology/OMIM/MTHU012003
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

245000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PAPILLON-LEFEVRE SYNDROME
Scope Statement

Caused by mutation in the cathepsin C gene (CTSC, 602365.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/40158001 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X20QB RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002296 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D010214 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/2716-7025 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D010214 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10082856 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/0828-4592 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-40137 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40158001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10082856 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10082856 MDRFRE CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Papillon-Lefevre_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/DERMO_0000052 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84992 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/X20QB RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0030360 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84992 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-40137 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17782 DERMLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082856 MEDDRA LOOM
http://identifiers.org/omim/245000 REXO LOOM
http://identifiers.org/omim/245000 GEXO LOOM
http://identifiers.org/omim/245000 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_245000 CCO LOOM