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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:Multiple mitochondrial dysfunctions syndrome 9A
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Accession:DOID:9003451 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades. (OMIM)
Synonyms:exact_synonym: ANOA;   Auditory neuropathy and optic atrophy;   FDXR-RELATED CONDITION;   MMDS9A
 xref: MIM:617717;   MONDO:0060582


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Multiple mitochondrial dysfunctions syndrome 9A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      multiple mitochondrial dysfunctions syndrome 20
        Multiple mitochondrial dysfunctions syndrome 9A 1
Path 2
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Signs and Symptoms 11167
        Neurologic Manifestations 10421
          sensory system disease 7330
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1051
                Hearing Disorders 840
                  Hearing Loss 835
                    sensorineural hearing loss 642
                      cortical deafness 40
                        Auditory Neuropathy 37
                          Multiple mitochondrial dysfunctions syndrome 9A 1
paths to the root