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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C537475
http://purl.bioontology.org/ontology/MESH/C537475
|
|---|---|
| Preferred Name | Mitochondrial complex I deficiency |
| Synonyms |
Mitochondrial NADH dehydrogenase component of complex I, deficiency of
NADH:Q(1) Oxidoreductase deficiency
NADH coenzyme q reductase deficiency
Nadh-Coenzyme Q Reductase Deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Mitochondrial NADH dehydrogenase component of complex I, deficiency of
NADH:Q(1) Oxidoreductase deficiency
NADH coenzyme q reductase deficiency
Nadh-Coenzyme Q Reductase Deficiency
|
|---|---|
| prefLabel |
Mitochondrial complex I deficiency
|
| TH |
OMIM (2013)
ORD (2010)
|
| notation |
C537475
|
| MMR |
20190325
|
| MeSH Frequency |
106
|
| Semantic type UMLS property | |
| HM |
D042967/Q000172
D028361
|
| Inverse of RB |
0
|
| Scope Statement |
The most common hereditary enzymatic defect of the OXIDATIVE PHOSPHORYLATION disorders that is linked to numerous diseases that can appear at any stage of life from birth through old age. These include MACROCEPHALY with progressive leukodystrophy, nonspecific encephalopathy, HYPERTROPHIC CARDIOMYOPATHY; MYOPATHY; LIVER DISEASES; LEIGH DISEASE; LEBER HEREDITARY OPTIC NEUROPATHY, and some cases of PARKINSON DISEASE. Mutations in both mitochondrial and nuclear genes for the components of NADH-ubiquinone reductase have been identified. OMIM: 252010
|
| MDA |
20100825
|
| SC |
3
|
| type | |
| Mapped to | |
| Has mapping qualifier | |
| tui |
T047
|
| cui |
C1838979
|
| TERMUI |
T742728
T752870
T742727
T742730
T811383
|
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