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Disease association ontology term - MONDO:0000732 - combined oxidative phosphorylation deficiency

Term summary

ID
MONDO:0000732
Name
combined oxidative phosphorylation deficiency
Ontology or CV name
Disease association
Definition
A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected.

Parents

Annotation

Disease association

MONDO:0000732 - combined oxidative phosphorylation deficiency

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MONDO:0013969 - combined oxidative phosphorylation defect type 11

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MONDO:0013986 - combined oxidative phosphorylation defect type 14

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MONDO:0013987 - combined oxidative phosphorylation defect type 15

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MONDO:0014190 - combined oxidative phosphorylation defect type 17

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MONDO:0012510 - combined oxidative phosphorylation defect type 2

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MONDO:0014397 - combined oxidative phosphorylation defect type 20

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MONDO:0014398 - combined oxidative phosphorylation defect type 21

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MONDO:0014525 - combined oxidative phosphorylation defect type 23

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MONDO:0014547 - combined oxidative phosphorylation defect type 24

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MONDO:0014636 - combined oxidative phosphorylation defect type 25

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MONDO:0014684 - combined oxidative phosphorylation defect type 26

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MONDO:0012534 - combined oxidative phosphorylation defect type 4

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MONDO:0013306 - combined oxidative phosphorylation defect type 7

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MONDO:0013570 - combined oxidative phosphorylation defect type 8

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MONDO:0013811 - combined oxidative phosphorylation defect type 9

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MONDO:0014269 - combined oxidative phosphorylation deficiency 19

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MONDO:0020727 - combined oxidative phosphorylation deficiency 22

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MONDO:0014775 - combined oxidative phosphorylation deficiency 28

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MONDO:0054677 - combined oxidative phosphorylation deficiency 33

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MONDO:0054741 - combined oxidative phosphorylation deficiency 34

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MONDO:0054742 - combined oxidative phosphorylation deficiency 35

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MONDO:0054781 - combined oxidative phosphorylation deficiency 36

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MONDO:0032712 - combined oxidative phosphorylation deficiency 38

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MONDO:0032726 - combined oxidative phosphorylation deficiency 39

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MONDO:0030006 - combined oxidative phosphorylation deficiency 40

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MONDO:0030007 - combined oxidative phosphorylation deficiency 41

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MONDO:0030008 - combined oxidative phosphorylation deficiency 42

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MONDO:0030017 - combined oxidative phosphorylation deficiency 43

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MONDO:0033533 - combined oxidative phosphorylation deficiency 45

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MONDO:0033534 - combined oxidative phosphorylation deficiency 46

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MONDO:0033537 - combined oxidative phosphorylation deficiency 47

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MONDO:0030311 - combined oxidative phosphorylation deficiency 52

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MONDO:0859228 - combined oxidative phosphorylation deficiency 55

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MONDO:0859323 - combined oxidative phosphorylation deficiency 56

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MONDO:0859337 - combined oxidative phosphorylation deficiency 57

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MONDO:0957992 - combined oxidative phosphorylation deficiency 59

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MONDO:0978298 - combined oxidative phosphorylation deficiency 60

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MONDO:0012512 - fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

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MONDO:0014261 - growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

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MONDO:0012191 - hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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MONDO:0014976 - lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

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MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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MONDO:0032869 - mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

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MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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MONDO:0957254 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

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MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

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MONDO:0957255 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

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MONDO:0013865 - mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

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MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

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