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ONTOLOGY REPORT - ANNOTATIONS


Term:deafness-dystonia-optic neuronopathy syndrome
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Accession:DOID:0050757 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)
Synonyms:exact_synonym: DDP;   DDS;   Jensen syndrome;   MTS;   Mohr-Tranebjaerg syndrome;   Mohr-Tranebjærg Syndrome;   deafness (DFN-1) dystonia, mental deficiency and blindness;   deafness dystonia syndrome;   deafness-dystonia-optic atrophy syndrome;   nerve deafness, optic nerve atrophy, and dementia;   opticoacoustic nerve atrophy with dementia;   opticoacustic nerve atrophy with dementia;   progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency;   syndrome of opticoacoustic nerve atrophy with dementia
 primary_id: MESH:C535808;   MESH:C537568
 alt_id: DOID:0050867;   OMIM:304700
 xref: ORDO:3213
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deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:13209134
RGD:13209136
RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 16021
    syndrome 6144
      deafness-dystonia-optic neuronopathy syndrome 1
Path 2
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  communication disorder 186
                    agnosia 20
                      cortical deafness 5
                        deafness-dystonia-optic neuronopathy syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.