Human genes for Papillon-Lefevre disease
Papillon-Lefevre disease [DOID:3389]
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.
Synonyms: Papillon-Lefevre disease, DOID:3389, PapillonLefevre disease, Papillon-Lefevre disorder, Papillon-Lefevre syndrome ...
Linkouts: OMIM