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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | Papillon-Lefevre disease | |
| Synonyms |
Papillon-Lefvre syndrome Papillon Lefevre syndrome |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3389 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| database_cross_reference |
UMLS_CUI:C0030360 SNOMEDCT_US_2023_03_01:40158001 MESH:D010214 GARD:3100 MIM:245000 NCI:C84992 ORDO:678
|
|
| 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.
|
|
| disease has location | ||
| has exact synonym |
Papillon-Lefvre syndrome Papillon Lefevre syndrome
|
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:3389
|
|
| in_subset | ||
| label |
Papillon-Lefevre disease
|
|
| notation |
DOID:3389
|
|
| prefLabel |
Papillon-Lefevre disease
|
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_1091 |
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