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General Information
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| Term |
mitochondrial DNA depletion syndrome 12b |
ID (Ontology) |
DOID:0080335 (Human Disease) |
| Definition |
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. |
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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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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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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 | Human Disease Models |
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mitochondrial DNA depletion syndrome 12b | 1 | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 12b | 1 | -- | model of | mitochondrial DNA depletion syndrome 12b | 1 | -- |
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Relationships