FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined oxidative phosphorylation deficiency ID (Ontology) DOID:0060286 (Human Disease)
Definition A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 combined oxidative phosphorylation deficiency       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__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.
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GARD:12893
MIM:PS609060