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General Information
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| Term |
deafness-dystonia-optic neuronopathy syndrome |
ID (Ontology) |
DOID:0050757 (Human Disease) |
| 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. |
| Also Known As |
"Deafness Dystonia Optic Atrophy Syndrome" ; "Deafness Dystonia Optic Neuronopathy Syndrome" ; "deafness dystonia syndrome" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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deafness-dystonia-optic neuronopathy syndrome | 1 | for disease ribbon | deafness-dystonia-optic neuronopathy syndrome | 1 | model of | deafness-dystonia-optic neuronopathy syndrome | 1 |
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Relationships