Papillon-Lefevre disease (DOID:3389)
Alliance: disease page
Synonyms: Papillon Lefevre syndrome; Papillon-Lefvre syndrome
Alt IDs: OMIM:245000, MESH:D010214, NCI:C84992, ORDO:678, UMLS_CUI:C0030360
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.