ONTOLOGY REPORT - ANNOTATIONS


Term:Palmoplantar Keratoderma with Deafness
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Accession:DOID:9007211 term browser browse the term
Synonyms:exact_synonym: Diffuse palmoplantar keratoderma with deafness;   Focal palmoplantar keratoderma with sensorineural deafness;   Hereditary palmoplantar keratoderma with deafness;   Keratoderma palmoplantar deafness;   Palmoplantar Hyperkeratosis-Deafness Syndrome;   Palmoplantar Hyperkeratosis-Hearing Loss Syndrome;   Palmoplantar Keratoderma-Deafness Syndrome;   Palmoplantar Keratoderma-Hearing Loss Syndrome;   Palmoplantar keratoderma and sensorineural deafness;   Ppk with Deafness;   Ppk-Deafness Syndrome
 primary_id: MESH:C536152;   RDO:0001613
 alt_id: OMIM:148350
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Palmoplantar Keratoderma with Deafness 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:7364814
RGD:7364819
RGD:8554872
RGD:11568636
RGD:11097846
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    sensory system disease 4267
      skin disease 2270
        keratosis 125
          palmoplantar keratosis 28
            Palmoplantar Keratoderma with Deafness 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  sensorineural hearing loss 438
                    Palmoplantar Keratoderma with Deafness 2
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.