. "disease_ontology"^^ . "NCI:C84992"^^ . _:vb50951882 . _:vb50951883 . . . "Papillon-Lefevre disease"^^ . _:vb50951882 . "Papillon-Lefvre syndrome"@en . _:vb50951882 . _:vb50951883 . "OMIM mapping confirmed by DO. [SN]."^^ . "ORDO:678"^^ . "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."^^ . _:vb50951883 . . "Papillon Lefevre syndrome"@en . "UMLS_CUI:C0030360"^^ . "OMIM:245000"^^ . _:vb50951882 . _:vb50951882 . _:vb50951883 . "SNOMEDCT_US_2021_09_01:40158001"^^ . . "DOID:3389"^^ . "GARD:3100"^^ . "MESH:D010214"^^ . _:vb50951883 . .