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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Papillon-Lefevre Syndrome | |
| 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 |
|
| 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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