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Disease Ontology Browser
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory