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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Preferred Name | Papillon-Lefevre Syndrome | |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Papillon-Lefevre_Syndrome |
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| 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.
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| FULL_SYN |
Papillon-Lefevre Disease
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| 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.
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| label |
Papillon-Lefevre Syndrome
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| prefixIRI |
Thesaurus:Papillon-Lefevre_Syndrome
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| prefLabel |
Papillon-Lefevre Syndrome
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| Synonym |
Papillon-Lefevre Disease
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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