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Disease association ontology term - MONDO:0016387 - mitochondrial oxidative phosphorylation disorder

Term summary

ID
MONDO:0016387
Name
mitochondrial oxidative phosphorylation disorder
Ontology or CV name
Disease association
Definition
A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.

Parents

Annotation

Disease association

MONDO:0016387 - mitochondrial oxidative phosphorylation disorder

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Genes:

MONDO:0013111 - acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

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MONDO:0008134 - autosomal dominant optic atrophy, classic form

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MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

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MONDO:0014051 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

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MONDO:0014667 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

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MONDO:0014668 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

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MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

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MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

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MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

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MONDO:0018151 - coenzyme Q10 deficiency

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MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

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MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

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MONDO:0033615 - coenzyme q10 deficiency, primary, 9

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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:0000732 - combined oxidative phosphorylation deficiency

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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:0013116 - congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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MONDO:0010799 - deafness, aminoglycoside-induced

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MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

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MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

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MONDO:0015487 - fatal infantile encephalocardiomyopathy

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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:0014020 - hereditary spastic paraplegia 55

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MONDO:0014882 - hereditary spastic paraplegia 77

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MONDO:0014869 - hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

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MONDO:0013458 - hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

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MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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MONDO:0009723 - Leigh syndrome

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

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MONDO:0012622 - leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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

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MONDO:0016814 - maternally-inherited Leigh syndrome

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

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MONDO:0032617 - mitochondrial complex I deficiency, nuclear type 11

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MONDO:0032626 - mitochondrial complex I deficiency, nuclear type 22

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MONDO:0032630 - mitochondrial complex I deficiency, nuclear type 26

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MONDO:0032631 - mitochondrial complex I deficiency, nuclear type 27

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MONDO:0032609 - mitochondrial complex I deficiency, nuclear type 4

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MONDO:0032612 - mitochondrial complex I deficiency, nuclear type 7

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MONDO:0015448 - mitochondrial complex III deficiency

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MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

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MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

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MONDO:0014064 - mitochondrial complex III deficiency nuclear type 3

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MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

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MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

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MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

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MONDO:0014356 - mitochondrial complex III deficiency nuclear type 7

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MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

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MONDO:0014496 - mitochondrial complex III deficiency nuclear type 9

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MONDO:0032909 - mitochondrial complex III deficiency, nuclear type 10

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MONDO:0859321 - mitochondrial complex III deficiency, nuclear type 11

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MONDO:0700250 - mitochondrial complex IV deficiency, nuclear type 1

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MONDO:0033639 - mitochondrial complex IV deficiency, nuclear type 10

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MONDO:0033645 - mitochondrial complex IV deficiency, nuclear type 11

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MONDO:0033649 - mitochondrial complex IV deficiency, nuclear type 14

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MONDO:0033651 - mitochondrial complex IV deficiency, nuclear type 16

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MONDO:0033653 - mitochondrial complex IV deficiency, nuclear type 18

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MONDO:0033654 - mitochondrial complex IV deficiency, nuclear type 19

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MONDO:0033655 - mitochondrial complex IV deficiency, nuclear type 20

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MONDO:0033656 - mitochondrial complex IV deficiency, nuclear type 21

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MONDO:0859160 - mitochondrial complex IV deficiency, nuclear type 22

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MONDO:0859520 - mitochondrial complex IV deficiency, nuclear type 23

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MONDO:0033635 - mitochondrial complex IV deficiency, nuclear type 3

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MONDO:0033636 - mitochondrial complex IV deficiency, nuclear type 4

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MONDO:0033637 - mitochondrial complex IV deficiency, nuclear type 7

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MONDO:0033638 - mitochondrial complex IV deficiency, nuclear type 8

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

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MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

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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:0020858 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

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

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MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

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MONDO:0018158 - mitochondrial DNA depletion syndrome

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MONDO:0014959 - mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

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MONDO:0014175 - mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

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MONDO:0014820 - mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

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MONDO:0014943 - mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

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MONDO:0032815 - mitochondrial DNA depletion syndrome 17

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MONDO:0032932 - mitochondrial DNA depletion syndrome 18

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MONDO:0976132 - mitochondrial dna depletion syndrome 21

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MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

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MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

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MONDO:0009747 - mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

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MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

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MONDO:0009504 - mitochondrial DNA depletion syndrome 9

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MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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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:0024553 - myopathy, lactic acidosis, and sideroblastic anemia 1

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MONDO:0013307 - myopathy, lactic acidosis, and sideroblastic anemia 2

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MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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MONDO:0033549 - optic atrophy 12

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MONDO:0008133 - optic atrophy 3

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MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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MONDO:0017312 - Perrault syndrome

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MONDO:0013972 - Perrault syndrome 2

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MONDO:0014126 - Perrault syndrome 4

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MONDO:0976232 - Perrault syndrome 7

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MONDO:0012683 - pontocerebellar hypoplasia type 6

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MONDO:0014754 - primary coenzyme Q10 deficiency 8

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MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

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MONDO:0008922 - Sengers syndrome

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MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

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MONDO:0012664 - spastic ataxia 3

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MONDO:0013354 - spastic ataxia 4

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MONDO:0013776 - spastic ataxia 5

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MONDO:0012450 - spinocerebellar ataxia type 28

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