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General Information
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| Term |
mitochondrial DNA depletion syndrome 2 |
ID (Ontology) |
DOID:0080120 (Human Disease) |
| Definition |
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. |
| Also Known As |
"TK2-related mitochondrial DNA depletion syndrome, myopathic form" |
| 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 2 | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 2 | 1 | model of | mitochondrial DNA depletion syndrome 2 | 1 |
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Relationships