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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

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  disease 14759
    syndrome 4210
      Bart-Pumphrey syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          Otorhinolaryngologic Diseases 1035
            auditory system disease 660
              Hearing Disorders 549
                Hearing Loss 545
                  sensorineural hearing loss 422
                    Bart-Pumphrey syndrome 1
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