- Concept UI
- M0015840
- Scope Note
- 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.
- Terms
-
Papillon-Lefevre Disease
Preferred Term
Term UI
T030200
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Papillon-Lefevre Syndrome
Term UI
T030201
Date04/03/1992
LexicalTag
EPO
ThesaurusID
-
Keratosis Palmoplantar Periodontopathy
Term UI
T746750
Date02/27/2009
LexicalTag
NON
ThesaurusID
ORD (2010)
-
Keratosis Palmoplantaris with Periodontopathia
Term UI
T746751
Date02/27/2009
LexicalTag
NON
ThesaurusID
-
Papillon Lefevre Disease
Term UI
T746752
Date02/27/2009
LexicalTag
EPO
ThesaurusID
ORD (2010)