FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial DNA depletion syndrome ID (Ontology) DOID:0070329 (Human Disease)
Definition A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
Also Known As "mtDNA depletion syndrome"
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 mitochondrial DNA depletion syndrome       1      1      1
 model of | mitochondrial DNA depletion syndrome       1       --       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__mitochondrial DNA depletion syndrome  85 rec.
           |__Alpers-Huttenlocher syndrome 6 rec.
           |__mitochondrial DNA depletion syndrome 1
           |__mitochondrial DNA depletion syndrome 2 1 rec.
           |__mitochondrial DNA depletion syndrome 3 1 rec.
           |__mitochondrial DNA depletion syndrome 4b 2 rec.
           |__mitochondrial DNA depletion syndrome 5 1 rec.
           |__mitochondrial DNA depletion syndrome 6 4 rec.
           |__mitochondrial DNA depletion syndrome 7 1 rec.
           |__mitochondrial DNA depletion syndrome 8a 1 rec.
           |__mitochondrial DNA depletion syndrome 8b 1 rec.
           |__mitochondrial DNA depletion syndrome 9 3 rec.
           |__mitochondrial DNA depletion syndrome 11
           |__mitochondrial DNA depletion syndrome 12a 2 rec.
           |__mitochondrial DNA depletion syndrome 12b 2 rec.
           |__mitochondrial DNA depletion syndrome 13 2 rec.
           |__mitochondrial DNA depletion syndrome 14 1 rec.
           |__mitochondrial DNA depletion syndrome 15 41 rec.
           |__mitochondrial DNA depletion syndrome 16 1 rec.
           |__mitochondrial DNA depletion syndrome 16B 1 rec.
           |__mitochondrial DNA depletion syndrome 17 3 rec.
           |__mitochondrial DNA depletion syndrome 18 2 rec.
           |__mitochondrial DNA depletion syndrome 19 6 rec.
           |__mitochondrial DNA depletion syndrome 20 1 rec.
           |__mitochondrial DNA depletion syndrome-21 1 rec.
           |__Sengers syndrome 4 rec.
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Is a mitochondrial metabolism disease
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Synonyms
  • "mtDNA depletion syndrome" EXACT
Secondary IDs
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GARD:13643
MIM:PS603041
ORDO:35698