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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Papillon-Lefevre disease | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3389 |
|
| 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.
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| imported from | ||
| label |
Papillon-Lefevre disease
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| prefixIRI |
DOID:3389
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| prefLabel |
Papillon-Lefevre disease
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_1091 |
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