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Experimental Factor Ontology
| Preferred Name | Papillon-Lefevre disease | |
| Synonyms |
keratosis palmoplantar - periodontopathy hyperkeratosis palmoplantaris with periodontosis PAPILLON-Lefevre syndrome keratosis palmoplantaris with periodontopathia Keratoris palmoplantaris with periodontopathia palmoplantar keratoderma with periodontosis palmar-plantar hyperkeratosis and concomitant periodontal destruction Papillon-LEFèvre syndrome PALS Pls Papillon Lefèvre Syndrome keratosis palmoplantar-periodontopathy syndrome Papillon-Lefvre syndrome Papillon Lefevre syndrome PLS |
|
| Definitions |
Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009490 |
|
| database_cross_reference |
ICD9:759.89 SCTID:40158001 Orphanet:678 UMLS:C0030360 NCIT:C84992 OMIM:245000 MEDGEN:45306 MESH:D010214 DOID:3389 GARD:3100 NORD:1552
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|
| definition |
Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_3389 http://identifiers.org/medgen/45306 http://linkedlifedata.com/resource/umls/id/C0030360 http://purl.obolibrary.org/obo/NCIT_C84992 http://purl.obolibrary.org/obo/Orphanet_678 |
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| has_exact_synonym |
Papillon Lefèvre Syndrome keratosis palmoplantar-periodontopathy syndrome Papillon-Lefvre syndrome Papillon Lefevre syndrome PLS
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| has_related_synonym |
keratosis palmoplantar - periodontopathy hyperkeratosis palmoplantaris with periodontosis PAPILLON-Lefevre syndrome keratosis palmoplantaris with periodontopathia Keratoris palmoplantaris with periodontopathia palmoplantar keratoderma with periodontosis palmar-plantar hyperkeratosis and concomitant periodontal destruction Papillon-LEFèvre syndrome PALS Pls
|
|
| id |
MONDO:0009490
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Papillon-Lefevre disease
|
|
| notation |
MONDO:0009490
|
|
| preferred label |
Papillon-Lefevre disease
|
|
| prefLabel |
Papillon-Lefevre disease
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015978 http://purl.obolibrary.org/obo/MONDO_0017739 http://purl.obolibrary.org/obo/MONDO_0017666 http://purl.obolibrary.org/obo/MONDO_0002635 |
| Delete | Subject | Author | Type | Created |
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