Term Name: | Papillon-Lefevre disease |
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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 ) |