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