FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term mitochondrial DNA depletion syndrome-21 ID (Ontology) DOID:0051029 (Human Disease)
Definition A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42.
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 mitochondrial DNA depletion syndrome-21       1
 for disease ribbon | mitochondrial DNA depletion syndrome-21       1
 model of | mitochondrial DNA depletion syndrome-21       1
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  mitochondrial metabolism disease
   |__mitochondrial DNA depletion syndrome
       |__mitochondrial DNA depletion syndrome-21  1 rec.
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MIM:621071