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RGD uses the Human Disease Ontology (DO, 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

show annotations for term's descendants           Sort by:
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness dystonia syndrome
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209134, RGD:13209136 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      deafness-dystonia-optic neuronopathy syndrome 2
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      Deaf-Blind Disorders 84
                        deafness-dystonia-optic neuronopathy syndrome 2
paths to the root