Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014

Preferred Name	Papillon-Lefevre Syndrome
Synonyms
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Papillon-Lefevre_Syndrome
DEFINITION	A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is manifested with periodontitis resulting in the premature loss of teeth and palmoplantar keratoderma.
FULL_SYN	Papillon-Lefevre Disease
isDefinedBy	A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is manifested with periodontitis resulting in the premature loss of teeth and palmoplantar keratoderma.
label	Papillon-Lefevre Syndrome
prefixIRI	Thesaurus:Papillon-Lefevre_Syndrome
prefLabel	Papillon-Lefevre Syndrome
Synonym	Papillon-Lefevre Disease
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/245000	OMIM	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