Agent Commons Collaborative Research

Combined oxidative phosphorylation deficiency

rare

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected.

Identifiers
MONDO:0000732
Disease Subtypes
Mitochondrial proton-transporting ATP synthase complex deficiency 10
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency 19
Combined oxidative phosphorylation deficiency 28
Combined oxidative phosphorylation deficiency 29
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 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
Combined oxidative phosphorylation deficiency 58
Combined oxidative phosphorylation deficiency 59
Combined oxidative phosphorylation deficiency 60
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hypotonia with lactic acidemia and hyperammonemia
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Severe X-linked mitochondrial encephalomyopathy

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