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;   Deafness (DFN-1) dystonia, mental deficiency and blindness;   Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency;   Deafness-dystonia-optic atrophy syndrome;   Jensen syndrome;   MTS;   Mohr-Tranebjaerg syndrome;   Mohr-Tranebjærg Syndrome;   Nerve deafness optic nerve atrophy, and dementia;   OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA;   Opticoacustic nerve atrophy with dementia;   Syndrome of opticoacoustic nerve atrophy with dementia;   deafness dystonia syndrome
 primary_id: MESH:C535808;   MESH:C537568;   OMIM:304700
 alt_id: DOID:0050867;   RDO:0001117;   RDO:0003431;   RDO:9004705
 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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  disease 14875
    syndrome 4220
      deafness-dystonia-optic neuronopathy syndrome 1
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  communication disorder 214
                    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.