loading...| Preferred Name | mitochondrial complex I deficiency | |
| Synonyms |
NADH coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated complex I deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-CoQ reductase deficiency isolated mitochondrial respiratory chain complex I deficiency complex 1 mitochondrial respiratory chain 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0100133 |
|
| database_cross_reference |
DOID:0060536 MEDGEN:374101 Orphanet:2609 NANDO:1200180 UMLS:C1838979 MESH:C537475 GARD:3908 |
|
| 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. |
|
| disease has basis in dysfunction of | ||
| has_exact_synonym |
NADH coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated complex I deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-CoQ reductase deficiency isolated mitochondrial respiratory chain complex I deficiency complex 1 mitochondrial respiratory chain deficiency |
|
| id |
MONDO:0100133 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
mitochondrial complex I deficiency |
|
| notation |
MONDO:0100133 |
|
| preferred label |
mitochondrial complex I deficiency |
|
| prefLabel |
mitochondrial complex I deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency |
|
| skos_exactMatch |
http://identifiers.org/mesh/C537475 http://linkedlifedata.com/resource/umls/id/C1838979 http://identifiers.org/medgen/374101 |
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| terms_creator | ||
| subClassOf |