Papillon-Lefevre Disease
Disease ID: disease_node_5863
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| Dbxref | GARD:3100, MESH:D010214, MIM:245000, NCI:C84992, ORDO:678, SNOMEDCT_US_2023_03_01:40158001, UMLS_CUI:C0030360 |
|---|---|
| Subclassof | DOID_0050737, DOID_2121, DOID_1091 |
| Data Source | DOID, MESH |
| Synonyms | Papillon Lefevre syndrome, Papillon-Lefvre syndrome |
| Disease Has Location | UBERON_0001091 |
| Mesh Id | D010214 |
| Mesh Label | Papillon-Lefevre Disease |
| Mesh Subclassof | D007645 |
| Doid Label | Papillon-Lefevre disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_5863 |
| Doid Id | DOID_3389 |
| Label | Papillon-Lefevre Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Tooth Diseases(ID:disease_node_7477) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)