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Summary Literature (0)
DOID:3389 - Papillon-Lefevre disease

Disease Ontology 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.

Synonyms: Papillon Lefevre syndrome, Papillon-Lefvre syndrome, Papillon-Lefvre syndrome (disorder)

Xenbase Genes : ctsc

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009490 - Papillon-Lefevre disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), ectodermal dysplasia (is_a), palmoplantar keratosis (is_a), periodontal disease (is_a), tooth disease (is_a)