Search Ontology:
Human Disease

Papillon-Lefevre disease

Term ID
DOID:3389
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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