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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:mitochondrial nonsyndromic sensorineural deafness
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Accession:DOID:0111751 term browser browse the term
Definition:A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. (DO)
Synonyms:exact_synonym: mitochondrially inherited nonsyndromic sensorineural deafness
 primary_id: OMIM:500008
 xref: NCI:C148321
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
mitochondrial nonsyndromic 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 ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      auditory system disease 1079
        inner ear disease 805
          sensorineural hearing loss 668
            Nonsyndromic Sensorineural Hearing Loss 28
              mitochondrial nonsyndromic sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          Otorhinolaryngologic Diseases 1676
            auditory system disease 1079
              Hearing Disorders 818
                Hearing Loss 814
                  sensorineural hearing loss 668
                    Nonsyndromic Sensorineural Hearing Loss 28
                      mitochondrial nonsyndromic sensorineural deafness 2
paths to the root