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.
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
DNA:mutation:intron:IVS1-23A>C(human) DNA:deletion:cds:108delG(human) DNA:mutation:exon:116delT(Q38fsX64)(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness dystonia syndrome