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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      auditory system disease 908
        inner ear disease 645
          sensorineural hearing loss 605
            autosomal-mitochondrial sensorineural deafness 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          Otorhinolaryngologic Diseases 1342
            auditory system disease 908
              Hearing Disorders 737
                Hearing Loss 733
                  sensorineural hearing loss 605
                    autosomal-mitochondrial sensorineural deafness 1
paths to the root