Search Ontology:
Human Disease
Papillon-Lefevre disease
- Term ID
- DOID:3389
- Synonyms
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- 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
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- GARD:3100
- MESH:D010214
- MIM:245000
- NCI:C84992
- ORDO:678
- SNOMEDCT_US_2023_03_01:40158001
- UMLS_CUI:C0030360
- Ontology
- Human Disease ( DOID:3389 )
- is a type of
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Genes Involved
Zebrafish Models