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loading...| Preferred Name |
Papillon-Lefevre Syndrome |
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| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_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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| label |
Papillon-Lefevre Syndrome |
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| Preferred_Name |
Papillon-Lefevre Syndrome |
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| prefixIRI |
NCIT:C84992 |
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| prefLabel |
Papillon-Lefevre Syndrome |
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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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