Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Id	http://identifiers.org/omim/245000 http://identifiers.org/omim/245000
Preferred Name	Papillon-Lefevre syndrome
Definitions	(PLS) - An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.
Synonyms	PLS
Type	http://www.w3.org/2002/07/owl#Class

definition	(PLS) - An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.
altLabel	PLS
prefLabel	Papillon-Lefevre syndrome
notation	OMIM:245000
id	OMIM:245000
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031
type	http://www.w3.org/2002/07/owl#Class

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