Term Name: Papillon-Lefevre disease
Synonyms: Papillon Lefevre syndrome, Papillon-Lefvre syndrome
Definition: An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Ontology: Human Disease [DOID:3389]   ( DOID:3389 )

Relationships
is a type of: autosomal recessive disease ectodermal dysplasia tooth disease