FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term mitochondrial DNA depletion syndrome 18 ID (Ontology) DOID:0070449 (Human Disease)
Definition A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.
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 mitochondrial DNA depletion syndrome 18       2
 for disease ribbon | mitochondrial DNA depletion syndrome 18       2
 model of | mitochondrial DNA depletion syndrome 18       2
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 18  2 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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MIM:618811