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Disease association ontology term - MONDO:0004069 - inborn mitochondrial metabolism disorder

Term summary

ID
MONDO:0004069
Name
inborn mitochondrial metabolism disorder
Ontology or CV name
Disease association
Definition
Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Parents

Annotation

Disease association

MONDO:0004069 - inborn mitochondrial metabolism disorder

References:

Genes:

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

References:

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

References:

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

Genes:

MONDO:0008858 - Behr syndrome

References:

Genes:

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

References:

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

References:

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

References:

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

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

References:

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

References:

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

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MONDO:0018151 - coenzyme Q10 deficiency

References:

Genes:

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

References:

Genes:

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

References:

Genes:

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

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Genes:

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

References:

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MONDO:0013811 - combined oxidative phosphorylation defect type 9

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MONDO:0000732 - combined oxidative phosphorylation deficiency

References:

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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

References:

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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

References:

Genes:

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

References:

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MONDO:0010799 - deafness, aminoglycoside-induced

References:

Genes:

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

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Genes:

MONDO:0015003 - dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

References:

Genes:

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

References:

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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

References:

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MONDO:0015487 - fatal infantile encephalocardiomyopathy

References:

Genes:

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

References:

Genes:

MONDO:0011730 - fumaric aciduria

References:

Genes:

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

References:

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

References:

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MONDO:0014020 - hereditary spastic paraplegia 55

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MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

References:

Genes:

MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

References:

Genes:

MONDO:0014576 - lipoyl transferase 1 deficiency

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Genes:

MONDO:0016814 - maternally-inherited Leigh syndrome

References:

Genes:

MONDO:0030935 - mitochondrial complex 2 deficiency, nuclear type 2

References:

Genes:

MONDO:0030937 - mitochondrial complex 2 deficiency, nuclear type 3

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MONDO:0030974 - mitochondrial complex 2 deficiency, nuclear type 4

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MONDO:0980970 - mitochondrial complex 4 deficiency, nuclear type 25

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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:0100294 - mitochondrial complex II deficiency, nuclear type 1

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MONDO:0015448 - mitochondrial complex III deficiency

References:

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MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

References:

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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

References:

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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

References:

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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

References:

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

References:

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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

References:

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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

References:

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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

References:

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MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

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MONDO:0018158 - mitochondrial DNA depletion syndrome

References:

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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:0980967 - mitochondrial dna depletion syndrome 14A (encephalomyopathic type)

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MONDO:0014820 - mitochondrial DNA depletion syndrome 14B (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

References:

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MONDO:0032932 - mitochondrial DNA depletion syndrome 18

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MONDO:0976132 - mitochondrial dna depletion syndrome 21

References:

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MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

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MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

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

References:

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MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

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MONDO:0009504 - mitochondrial DNA depletion syndrome 9

References:

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

References:

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

References:

Genes:

MONDO:0020714 - mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

References:

Genes:

MONDO:0044714 - mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

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MONDO:0016387 - mitochondrial oxidative phosphorylation disorder

References:

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

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MONDO:0013877 - mitochondrial pyruvate carrier deficiency

References:

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MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

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MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

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MONDO:0975806 - multiple mitochondrial dysfunctions syndrome 10

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MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

References:

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MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

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MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

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MONDO:0033282 - multiple mitochondrial dysfunctions syndrome 5

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MONDO:0054785 - multiple mitochondrial dysfunctions syndrome 6

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MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

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MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b

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

References:

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

References:

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

References:

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MONDO:0033549 - optic atrophy 12

References:

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MONDO:0008133 - optic atrophy 3

References:

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MONDO:0008759 - oxoglutaricaciduria

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MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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MONDO:0017312 - Perrault syndrome

References:

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MONDO:0013972 - Perrault syndrome 2

References:

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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:0005181 - progressive external ophthalmoplegia

References:

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MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

References:

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MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

References:

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MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

References:

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MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

References:

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

References:

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MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

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MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

References:

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MONDO:0019169 - pyruvate dehydrogenase deficiency

References:

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MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

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MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

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MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

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MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

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MONDO:0008922 - Sengers syndrome

References:

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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:0014804 - sideroblastic anemia 3

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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:0014803 - spasticity-ataxia-gait anomalies syndrome

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MONDO:0012450 - spinocerebellar ataxia type 28

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MONDO:0100138 - X-linked recessive mitochondrial myopathy

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