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 | ||
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 |
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.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.