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Term:Wolfram syndrome 1
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Accession:DOID:0110629 term browser browse the term
Definition:An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)
Synonyms:exact_synonym: WFS1;   diabetes mellitus AND insipidus with optic atrophy AND deafness
 primary_id: OMIM:222300
 alt_id: RDO:9004228
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Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Wolfram syndrome 4
        Wolfram syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Deaf-Blind Disorders 52
                      Wolfram syndrome 4
                        Wolfram syndrome 1 1
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