loading...| Preferred Name | cytochrome-c oxidase deficiency disease | |
| Synonyms |
deficiency of mitochondrial respiratory chain complex4 isolated cytochrome C oxidase deficiency Cox deficiency COX deficiency cytochrome C oxidase deficiency Complex 4 mitochondrial respiratory chain deficiency mitochondrial Complex 4 deficiency Complex IV deficiency mitochondrial complex IV deficiency cytochrome-c oxidase deficiency disease cytochrome-C oxidase deficiency isolated mitochondrial respiratory chain complex IV deficiency isolated COX deficiency Cytochrome C Oxidase 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009068 |
|
| database_cross_reference |
MEDGEN:75662 Orphanet:254905 UMLS:C0268237 NCIT:C98910 MESH:D030401 SCTID:67434000 DOID:3762 GARD:48 NORD:1030 |
|
| 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. |
|
| has_exact_synonym |
mitochondrial complex IV deficiency cytochrome-c oxidase deficiency disease cytochrome-C oxidase deficiency isolated mitochondrial respiratory chain complex IV deficiency isolated COX deficiency Cytochrome C Oxidase Deficiency |
|
| has_related_synonym |
deficiency of mitochondrial respiratory chain complex4 isolated cytochrome C oxidase deficiency Cox deficiency COX deficiency cytochrome C oxidase deficiency Complex 4 mitochondrial respiratory chain deficiency mitochondrial Complex 4 deficiency Complex IV deficiency |
|
| IAO_0000233 | ||
| IAO_0006012 |
2024-06-01 |
|
| id |
MONDO:0009068 |
|
| 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#obsoletion_candidate http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
cytochrome-c oxidase deficiency disease |
|
| notation |
MONDO:0009068 |
|
| preferred label |
cytochrome-c oxidase deficiency disease |
|
| prefLabel |
cytochrome-c oxidase deficiency disease |
|
| 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 |
|
| subClassOf |