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]. |
|
alternative label |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
|
database_cross_reference |
OMIM:149200 |
|
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. OMIM mapping confirmed by DO. [SN]. |
|
has exact synonym |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050658 |
|
label |
Bart-Pumphrey syndrome |
|
notation |
DOID:0050658 |
|
note |
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]. |
|
preferred label |
Bart-Pumphrey syndrome |
|
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 |