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ONTOLOGY REPORT - ANNOTATIONS


Term:Bart-Pumphrey syndrome
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Accession:DOID:0050658 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BAPS;   knuckle pads, leukonychia, and sensorineural deafness;   knuckle pads, leukonychia, deafness, and keratosis palmoplantaris
 primary_id: MESH:C537210
 alt_id: OMIM:149200
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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

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Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Bart-Pumphrey syndrome 1
Path 2
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  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          Otorhinolaryngologic Diseases 1123
            auditory system disease 717
              Hearing Disorders 581
                Hearing Loss 577
                  sensorineural hearing loss 472
                    Bart-Pumphrey syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.