OBO ID: DOID:3389
Term Name: Papillon-Lefevre disease Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:3389)
OTHER Papillon-Lefevre disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTSC Papillon-Lefevre syndrome 245000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None