BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Bart-Pumphrey syndrome

Synonyms

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS

Definitions

A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050658

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:149200

has exact synonym

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS

has_obo_namespace

disease_ontology

id

DOID:0050658

imported from

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

label

Bart-Pumphrey syndrome

notation

DOID:0050658

prefLabel

Bart-Pumphrey syndrome

textual definition

A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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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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