FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term mitochondrial DNA depletion syndrome 14 ID (Ontology) DOID:0080336 (Human Disease)
Definition A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
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 mitochondrial DNA depletion syndrome 14       1
 for disease ribbon | mitochondrial DNA depletion syndrome 14       1
 model of | mitochondrial DNA depletion syndrome 14       1
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  mitochondrial metabolism disease
   |__mitochondrial DNA depletion syndrome
       |__mitochondrial DNA depletion syndrome 14  1 rec.
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MIM:616896