Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Preferred Name

Papillon-Lefevre syndrome

Synonyms

PLS

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.

ID

http://identifiers.org/omim/245000

altLabel

PLS

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.

id

OMIM:245000

notation

OMIM:245000

prefLabel

Papillon-Lefevre syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

Delete Subject Author Type Created
No notes to display