combined oxidative phosphorylation deficiency

Term ID

DOID:0060286

Synonyms

Definition

A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency

References

GARD:12893
MIM:PS609060

Ontology

Human Disease ( DOID:0060286 )

Relationships

is a type of: mitochondrial metabolism disease

mitochondrial metabolism disease Show first 5 Terms
has subtype: combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 2 combined oxidative phosphorylation deficiency 3 combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation deficiency 5 ... Show All 57 Terms

combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 2 combined oxidative phosphorylation deficiency 3 combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation deficiency 5 combined oxidative phosphorylation deficiency 6 combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation deficiency 8 combined oxidative phosphorylation deficiency 9 combined oxidative phosphorylation deficiency 10 combined oxidative phosphorylation deficiency 11 combined oxidative phosphorylation deficiency 12 combined oxidative phosphorylation deficiency 13 combined oxidative phosphorylation deficiency 14 combined oxidative phosphorylation deficiency 15 combined oxidative phosphorylation deficiency 16 combined oxidative phosphorylation deficiency 17 combined oxidative phosphorylation deficiency 18 combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency 20 combined oxidative phosphorylation deficiency 21 combined oxidative phosphorylation deficiency 22 combined oxidative phosphorylation deficiency 23 combined oxidative phosphorylation deficiency 24 combined oxidative phosphorylation deficiency 25 combined oxidative phosphorylation deficiency 26 combined oxidative phosphorylation deficiency 27 combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 30 combined oxidative phosphorylation deficiency 31 combined oxidative phosphorylation deficiency 32 combined oxidative phosphorylation deficiency 33 combined oxidative phosphorylation deficiency 34 combined oxidative phosphorylation deficiency 35 combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency 37 combined oxidative phosphorylation deficiency 38 combined oxidative phosphorylation deficiency 39 combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 45 combined oxidative phosphorylation deficiency 46 combined oxidative phosphorylation deficiency 47 combined oxidative phosphorylation deficiency 48 combined oxidative phosphorylation deficiency 49 combined oxidative phosphorylation deficiency 50 combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 57 Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models