ONTOLOGY REPORT - ANNOTATIONS


Term:Vohwinkel Syndrome
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Accession:DOID:9007986 term browser browse the term
Synonyms:exact_synonym: Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes;   KHM;   Keratoderma hereditarium mutilans;   Mutilating keratoderma;   Palmoplantar Keratoderma Mutilans;   Palmoplantar Keratoderma Mutilans Vohwinkel;   Ppk Mutilans Vohwinkel;   VOWNKL
 primary_id: MESH:C536457;   RDO:0002051
 alt_id: OMIM:124500
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Vohwinkel 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:7364824
RGD:8554872
RGD:11568635

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Vohwinkel Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Vohwinkel 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.