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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
DNA:deletion:cds:108delG(human)
DNA:mutation:exon:116delT(Q38fsX64)(human)
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness dystonia syndrome
OMIM
ClinVar
CTD
PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:11601506, PMID:17471106 RGD:13209130, RGD:13209134, RGD:13209136 NCBI chr  X:105,351,714...105,355,722
Ensembl chr  X:105,352,402...105,355,716
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      deafness-dystonia-optic neuronopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    agnosia 23
                      cortical deafness 5
                        deafness-dystonia-optic neuronopathy syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.