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ONTOLOGY REPORT - ANNOTATIONS


Term:palmoplantar keratoderma-deafness syndrome
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Accession:DOID:0111505 term browser browse the term
Definition:An autosomal dominant disease characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11. (DO)
Synonyms:exact_synonym: Focal palmoplantar keratoderma with sensorineural deafness;   Hereditary palmoplantar keratoderma with deafness;   Keratoderma palmoplantar deafness;   PPK with deafness;   Palmoplantar Hyperkeratosis-Deafness Syndrome;   Palmoplantar Hyperkeratosis-Hearing Loss Syndrome;   Palmoplantar Keratoderma with Deafness;   Palmoplantar Keratoderma-Hearing Loss Syndrome;   Palmoplantar keratoderma and sensorineural deafness;   Ppk-Deafness Syndrome;   diffuse palmoplantar keratoderma with deafness
 primary_id: MESH:C536152
 alt_id: OMIM:148350
 xref: GARD:3094;   ORDO:2202
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palmoplantar keratoderma-deafness 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: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 15553
    sensory system disease 4596
      skin disease 2462
        Genetic Skin Diseases 760
          palmoplantar keratosis 28
            palmoplantar keratoderma-deafness syndrome 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 460
                    palmoplantar keratoderma-deafness syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.