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loading...| Preferred Name | Papillon-Lefevre Syndrome | |
| Synonyms |
Papillon-Lefevre Disease Papillon-Lefevre Syndrome |
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| Definitions |
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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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84992 |
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| code |
C84992 |
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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 Papillon-Lefevre Syndrome |
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| label |
Papillon-Lefevre Syndrome |
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| Preferred_Name |
Papillon-Lefevre Syndrome |
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| prefixIRI |
Thesaurus:C84992 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0030360 |
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| subClassOf |
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