loading...| Preferred Name | Cytochrome-C Oxidase Deficiency | |
| Synonyms |
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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/NCIT_C98910 |
|
| code |
C98910 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| 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. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
| label |
Cytochrome-C Oxidase Deficiency |
|
| Preferred_Name |
Cytochrome-C Oxidase Deficiency |
|
| prefixIRI |
NCIT:C98910 |
|
| prefLabel |
Cytochrome-C Oxidase Deficiency |
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| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C4225470 |
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| subClassOf |