FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Papillon-Lefevre disease ID (Ontology) DOID:3389 (Human Disease)
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.
Also Known As "Papillon Lefevre syndrome" ; "Papillon-Lefvre syndrome"
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 Genes
 Papillon-Lefevre disease       7
 for disease ribbon | Papillon-Lefevre disease       7
 model of | Papillon-Lefevre disease       7
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__ectodermal dysplasia_________|
mouth disease                    |
 |__tooth disease________________|
                                 Papillon-Lefevre disease  7 rec.
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Is a autosomal recessive disease
tooth disease
ectodermal dysplasia
Part of
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Synonyms
  • "Papillon Lefevre syndrome" EXACT
    "Papillon-Lefvre syndrome" EXACT
Secondary IDs
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GARD:3100
MESH:D010214
MIM:245000
NCI:C84992
ORDO:678
SNOMEDCT_US_2023_03_01:40158001
UMLS_CUI:C0030360