loading...| Preferred Name |
mitochondrial complex I deficiency |
|
| Synonyms |
isolated mitochondrial respiratory chain complex I deficiency isolated NADH-ubiquinone reductase deficiency isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency complex 1 mitochondrial respiratory chain deficiency NADH coenzyme Q reductase deficiency isolated complex I deficiency |
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| Definitions |
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100133 |
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| created_by | ||
| has_exact_synonym |
isolated mitochondrial respiratory chain complex I deficiency isolated NADH-ubiquinone reductase deficiency isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency complex 1 mitochondrial respiratory chain deficiency NADH coenzyme Q reductase deficiency isolated complex I deficiency |
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| label |
mitochondrial complex I deficiency |
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| prefixIRI |
MONDO:0100133 |
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| prefLabel |
mitochondrial complex I deficiency |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency |
|
| textual definition |
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. |
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| subClassOf |