FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial metabolism disease ID (Ontology) DOID:700 (Human Disease)
Definition An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
Comment
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Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      30
Human Disease Models (FBhh)  DOID      12
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 mitochondrial metabolism disease      32     19     12
 ameliorates | mitochondrial metabolism disease       3       --       --
 exacerbates | mitochondrial metabolism disease       3       --       --
 for disease ribbon | ACTH-secreting pituitary adenoma       --       1       --
 model of | ACTH-secreting pituitary adenoma       --       1       --
 model of | mitochondrial metabolism disease      25       --       --
 DOES NOT ameliorate | mitochondrial metabolism disease       1       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__mitochondrial metabolism disease  490 rec.
                            |__adult-onset ataxia and polyneuropathy
                            |__coenzyme Q10 deficiency disease 30 rec.
                            |   |__primary coenzyme Q10 deficiency 1 12 rec.
                            |   |__primary coenzyme Q10 deficiency 2 1 rec.
                            |   |__primary coenzyme Q10 deficiency 3 1 rec.
                            |   |__primary coenzyme Q10 deficiency 4 5 rec.
                            |   |__primary coenzyme Q10 deficiency 5 1 rec.
                            |   |__primary coenzyme Q10 deficiency 6 2 rec.
                            |   |__primary coenzyme Q10 deficiency 7 1 rec.
                            |   |__primary coenzyme Q10 deficiency 8 1 rec.
                            |   |__primary coenzyme Q10 deficiency 9 1 rec.
                            |__combined oxidative phosphorylation deficiency 87 rec.
                            |   |__combined oxidative phosphorylation deficiency 1 3 rec.
                            |   |__combined oxidative phosphorylation deficiency 2 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 3 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 4 2 rec.
                            |   |__combined oxidative phosphorylation deficiency 5 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 6 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 7 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 8 2 rec.
                            |   |__combined oxidative phosphorylation deficiency 9 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 10 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 11 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 12 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 13 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 14 2 rec.
                            |   |__combined oxidative phosphorylation deficiency 15 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 16 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 17 12 rec.
                            |   |__combined oxidative phosphorylation deficiency 18 2 rec.
                            |   |__combined oxidative phosphorylation deficiency 19 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 20 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 21 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 22 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 23 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 24 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 25 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 26 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 27 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 28 7 rec.
                            |   |__combined oxidative phosphorylation deficiency 29 3 rec.
                            |   |__combined oxidative phosphorylation deficiency 30 3 rec.
                            |   |__combined oxidative phosphorylation deficiency 31 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 32 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 33 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 34 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 35 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 36 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 37 3 rec.
                            |   |__combined oxidative phosphorylation deficiency 38 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 39 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 40 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 41 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 42 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 43 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 44
                            |   |__combined oxidative phosphorylation deficiency 45 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 46 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 47 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 48 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 49
                            |   |__combined oxidative phosphorylation deficiency 50 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 51 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 52 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 53 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 54 3 rec.
                            |   |__combined oxidative phosphorylation deficiency 55 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 56 1 rec.
                            |   |__combined oxidative phosphorylation deficiency 57 1 rec.
                            |__cytochrome-c oxidase deficiency disease 88 rec.
                            |   |__COX deficiency, benign infantile mitochondrial myopathy(+) 32 rec.
                            |   |__COX deficiency, infantile mitochondrial myopathy(+) 5 rec.
                            |   |__French Canadian Leigh disease 5 rec.
                            |   |__Leigh disease 20 rec.
                            |   |__mitochondrial complex IV deficiency nuclear type 23 1 rec.
                            |__deafness-dystonia-optic neuronopathy syndrome 1 rec.
                            |__ethylmalonic encephalopathy 2 rec.
                            |__GRACILE syndrome 1 rec.
                            |__mitochondrial complex I deficiency 75 rec.
                            |   |__mitochondrial type mitochondrial complex I deficiency(+)
                            |   |__nuclear type mitochondrial complex I deficiency(+) 72 rec.
                            |   |__nuclear type mitochondrial complex I deficiency 35 1 rec.
                            |__mitochondrial complex II deficiency 12 rec.
                            |__mitochondrial complex III deficiency 17 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 1 4 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 2 4 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 3 2 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 4 1 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 5 1 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 6 2 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 7 1 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 8 1 rec.
                            |   |__mitochondrial complex III deficiency nuclear type 9
                            |__mitochondrial complex V (ATP synthase) deficiency 33 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 1 1 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4(+) 1 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 5 7 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 6 3 rec.
                            |   |__mitochondrial complex V (ATP synthase) deficiency nuclear type 7 1 rec.
                            |__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.
                            |__mitochondrial pyruvate carrier deficiency 5 rec.
                            |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |__multiple mitochondrial dysfunctions syndrome 7 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome 1 3 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome 2
                            |   |__multiple mitochondrial dysfunctions syndrome 3 1 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome 4 1 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome 5 1 rec.
                            |   |__multiple mitochondrial dysfunctions syndrome 6 1 rec.
                            |__NARP syndrome
                            |__neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 rec.
                            |__Pearson syndrome
                            |__sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2 rec.
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Synonyms
Secondary IDs
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GARD:7048
MESH:D028361
SNOMEDCT_US_2023_03_01:240096000
UMLS_CUI:C0751651