BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Papillon-Lefevre disease

Synonyms

Papillon-Lefvre syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. 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.

ID

http://purl.obolibrary.org/obo/DOID_3389

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:40158001

UMLS_CUI:C0030360

OMIM:245000

MESH:D010214

GARD:3100

NCI:C84992

ORDO:678

has exact synonym

Papillon-Lefvre syndrome

Papillon Lefevre syndrome

has_obo_namespace

disease_ontology

id

DOID:3389

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Papillon-Lefevre disease

notation

DOID:3389

prefLabel

Papillon-Lefevre disease

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_1091

http://purl.obolibrary.org/obo/DOID_2121

http://purl.obolibrary.org/obo/DOID_0050737

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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