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Gene Expression Ontology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/245000
http://identifiers.org/omim/245000
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|---|---|
| Preferred Name | Papillon-Lefevre syndrome |
| Definitions |
(PLS) - An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.
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| Synonyms |
PLS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (PLS) - An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. |
|---|---|
| altLabel |
PLS
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| prefLabel |
Papillon-Lefevre syndrome
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| notation |
OMIM:245000
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| id |
OMIM:245000
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| subClassOf | |
| type |
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