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General Information
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| Term |
mitochondrial DNA depletion syndrome 5 |
ID (Ontology) |
DOID:0080124 (Human Disease) |
| Definition |
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. |
| Also Known As |
"succinate-CoA ligase deficiency" |
| Comment |
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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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mitochondrial DNA depletion syndrome 5 | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 5 | 1 | model of | mitochondrial DNA depletion syndrome 5 | 1 |
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Relationships