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ONTOLOGY REPORT - ANNOTATIONS


Term:Bart-Pumphrey syndrome
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Accession:DOID:0050658 term browser browse the term
Definition:An autosomal dominant disease 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. (DO)
Synonyms:exact_synonym: knuckle pads, leukonychia, and sensorineural deafness;   knuckle pads, leukonychia, deafness, and keratosis palmoplantaris
 primary_id: MESH:C537210
 alt_id: OMIM:149200;   RDO:0003000
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Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:7364821
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Bart-Pumphrey syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    Bart-Pumphrey syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.