FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term mitochondrial DNA depletion syndrome 15 ID (Ontology) DOID:0080337 (Human Disease)
Definition A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.
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Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      26
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 Alleles Genes
 mitochondrial DNA depletion syndrome 15      26     15
 ameliorates | mitochondrial DNA depletion syndrome 15      13       --
 exacerbates | mitochondrial DNA depletion syndrome 15       8       --
 for disease ribbon | mitochondrial DNA depletion syndrome 15       --       2
 model of | mitochondrial DNA depletion syndrome 15       5      2
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 15  41 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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MIM:617156