Mondo Disease Ontology - Papillon-Lefevre disease - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0009490 http://purl.obolibrary.org/obo/MONDO_0009490
Preferred Name	Papillon-Lefevre disease
Definitions	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Synonyms	PAPILLON-Lefevre syndrome Keratoris palmoplantaris with periodontopathia keratosis palmoplantaris with periodontopathia keratosis palmoplantar - periodontopathy hyperkeratosis palmoplantaris with periodontosis palmar-plantar hyperkeratosis and concomitant periodontal destruction Papillon-LEFèvre syndrome PALS Pls palmoplantar keratoderma with periodontosis PLS keratosis palmoplantar-periodontopathy syndrome Papillon-Lefvre syndrome Papillon Lefevre syndrome Papillon Lefèvre Syndrome See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
label	Papillon-Lefevre disease
prefLabel	Papillon-Lefevre disease
database_cross_reference	NCIT:C84992 SCTID:40158001 UMLS:C0030360 Orphanet:678 OMIM:245000 MESH:D010214 DOID:3389 ICD9:759.89 NORD:1552 MEDGEN:45306 GARD:3100 See more See less
notation	MONDO:0009490
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
has_related_synonym	PAPILLON-Lefevre syndrome Keratoris palmoplantaris with periodontopathia keratosis palmoplantaris with periodontopathia keratosis palmoplantar - periodontopathy hyperkeratosis palmoplantaris with periodontosis palmar-plantar hyperkeratosis and concomitant periodontal destruction Papillon-LEFèvre syndrome PALS Pls palmoplantar keratoderma with periodontosis See more See less
id	MONDO:0009490
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_3389 https://omim.org/entry/245000 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 http://identifiers.org/mesh/D010214 http://identifiers.org/snomedct/40158001 See more See less
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 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0800465 See more See less
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	PLS keratosis palmoplantar-periodontopathy syndrome Papillon-Lefvre syndrome Papillon Lefevre syndrome Papillon Lefèvre Syndrome
treeView	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 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0800465 See more See less

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