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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Papillon-Lefevre Disease [Disease/Finding] | |
| Synonyms |
Papillon Lefevre Disease Papillon-Lefevre Syndrome Keratosis Palmoplantaris with Periodontopathia Papillon-Lefevre Disease Keratosis Palmoplantar Periodontopathy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002296 |
|
| altLabel |
Papillon Lefevre Disease Papillon-Lefevre Syndrome Keratosis Palmoplantaris with Periodontopathia Papillon-Lefevre Disease Keratosis Palmoplantar Periodontopathy
|
|
| cui |
C0030360
|
|
| MESH DEFINITION |
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
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|
| MESH DUI |
D010214
|
|
| MeSH name |
Papillon-Lefevre Disease
|
|
| MESH UI |
M0015840
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000002296
|
|
| NUI |
N0000002296
|
|
| prefLabel |
Papillon-Lefevre Disease [Disease/Finding]
|
|
| SNOMED CID |
40158001
|
|
| tui |
T047
|
|
| subClassOf |
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