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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal-mitochondrial sensorineural deafness
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Accession:DOID:0111752 term browser browse the term
Definition:A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. (DO)
Synonyms:exact_synonym: Sensorineural Deafness, Autosomal-Mitochondrial Type
 primary_id: MESH:C565637
 alt_id: OMIM:221745
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autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    sensory system disease 4969
      auditory system disease 713
        inner ear disease 506
          sensorineural hearing loss 468
            autosomal-mitochondrial sensorineural deafness 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          Otorhinolaryngologic Diseases 1119
            auditory system disease 713
              Hearing Disorders 577
                Hearing Loss 573
                  sensorineural hearing loss 468
                    autosomal-mitochondrial sensorineural deafness 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.