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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:aminoglycoside-induced deafness
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Accession:DOID:0111734 term browser browse the term
Definition:A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. (DO)
Synonyms:exact_synonym: streptomycin ototoxicity;   streptomycin-induced deafness
 related_synonym: Deafness, mitochondrial, modifier of
 primary_id: MESH:C564013
 alt_id: OMIM:580000
For additional species annotation, visit the Alliance of Genome Resources.


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aminoglycoside-induced 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 ClinVar Annotator: match by term: Aminoglycoside-induced deafness ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331 PMID:25741868 PMID:28049726 PMID:28492532 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      auditory system disease 908
        inner ear disease 645
          sensorineural hearing loss 605
            aminoglycoside-induced deafness 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1341
            auditory system disease 908
              Hearing Disorders 738
                Hearing Loss 734
                  Deafness 385
                    nonsyndromic deafness 277
                      drug-induced hearing loss 9
                        aminoglycoside-induced deafness 2
paths to the root