You are using an outdated browser. Please upgrade your browser to improve your experience.

Papillon-Lefevre disease

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009490:  Papillon-Lefevre disease
GARD:0003100: 
MESH:D010214: 
NCIT:C84992: 
Orphanet:678: 
SCTID:40158001: 
UMLS:C0030360: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)