loading...| Preferred Name |
cytochrome-c oxidase deficiency disease |
|
| Synonyms |
cytochrome-C oxidase deficiency mitochondrial complex IV deficiency isolated COX deficiency cytochrome-c oxidase deficiency disease isolated mitochondrial respiratory chain complex IV deficiency mitochondrial complex IV deficiency, nuclear type 1 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 |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009068 |
|
| has_exact_synonym |
cytochrome-C oxidase deficiency mitochondrial complex IV deficiency isolated COX deficiency cytochrome-c oxidase deficiency disease isolated mitochondrial respiratory chain complex IV deficiency mitochondrial complex IV deficiency, nuclear type 1 |
|
| 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 |
|
| IAO_0000233 | ||
| label |
cytochrome-c oxidase deficiency disease |
|
| prefixIRI |
MONDO:0009068 |
|
| prefLabel |
cytochrome-c oxidase deficiency disease |
|
| textual 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. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0009068 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0009068 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0009068 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3762 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3762 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009068 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3762 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3762 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3762 | FNS-H | LOOM |