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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



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 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G LOC130068494 ATAC-STARR-seq lymphoblastoid active region 29808 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar PMID:8841189 PMID:15037720 NCBI chr  X:101,348,664...101,348,713 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP
EXP
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
RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209134, RGD:13209136 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      deafness-dystonia-optic neuronopathy syndrome 3
Path 2
Term Annotations click to browse term
  disease 40721
    Pathological Conditions, Signs and Symptoms 20960
      Signs and Symptoms 16039
        Neurologic Manifestations 15108
          sensory system disease 9668
            Otorhinolaryngologic Diseases 2265
              auditory system disease 1331
                Hearing Disorders 1131
                  Hearing Loss 1125
                    Deafness 635
                      Deaf-Blind Disorders 239
                        deafness-dystonia-optic neuronopathy syndrome 3
paths to the root