loading...| Preferred Name | cytochrome-c oxidase deficiency disease | |
| Synonyms |
deficiency of mitochondrial respiratory chain complex4 isolated cytochrome C oxidase deficiency Cox deficiency Complex 4 mitochondrial respiratory chain deficiency Complex IV deficiency mitochondrial Complex 4 deficiency cytochrome C oxidase deficiency COX deficiency cytochrome-C oxidase deficiency mitochondrial complex IV deficiency isolated COX deficiency Cytochrome C Oxidase Deficiency cytochrome-c oxidase deficiency disease isolated mitochondrial respiratory chain complex IV deficiency |
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| Definitions |
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. Reason: duplicate. This will be merged with MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009068 |
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| comment |
Reason: duplicate. This will be merged with MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type |
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| database_cross_reference |
MEDGEN:75662 MESH:D030401 UMLS:C0268237 Orphanet:254905 NORD:1030 SCTID:67434000 NCIT:C98910 GARD:48 DOID:3762 |
|
| definition |
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. |
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| has_exact_synonym |
cytochrome-C oxidase deficiency mitochondrial complex IV deficiency isolated COX deficiency Cytochrome C Oxidase Deficiency cytochrome-c oxidase deficiency disease isolated mitochondrial respiratory chain complex IV deficiency |
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| has_related_synonym |
deficiency of mitochondrial respiratory chain complex4 isolated cytochrome C oxidase deficiency Cox deficiency Complex 4 mitochondrial respiratory chain deficiency Complex IV deficiency mitochondrial Complex 4 deficiency cytochrome C oxidase deficiency COX deficiency |
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| IAO_0000233 | ||
| IAO_0006012 |
2024-06-01 |
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| id |
MONDO:0009068 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#obsoletion_candidate http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
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| label |
cytochrome-c oxidase deficiency disease |
|
| notation |
MONDO:0009068 |
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| prefLabel |
cytochrome-c oxidase deficiency disease |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C98910 http://purl.obolibrary.org/obo/DOID_3762 http://identifiers.org/medgen/75662 http://identifiers.org/mesh/D030401 http://linkedlifedata.com/resource/umls/id/C0268237 |
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| treeView | ||
| subClassOf |