DISEASES

Disease-gene associations mined from literature

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