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| Term | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | ID (Ontology) | DOID:0070463 (Human Disease) | |||||||||||||||||||||||
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. | |||||||||||||||||||||||||
| Also Known As | "MC5DN5" | |||||||||||||||||||||||||
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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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autosomal genetic disease |__autosomal recessive disease________________________ mitochondrial metabolism disease | |__mitochondrial complex V (ATP synthase) deficiency__| mitochondrial complex V (ATP synthase) deficiency nuclear type 5 7 rec. |
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autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency |
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External Crossreferences & Linkouts
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| MIM:618120 | |||