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loading...| Preferred Name |
Cytochrome-C_Oxidase_Deficiency |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Cytochrome-C_Oxidase_Deficiency |
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| ID |
C98910 |
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| NCI_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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| NCI_PT |
Cytochrome-C Oxidase Deficiency |
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| NICHD_Definition |
_ |
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| prefixIRI |
Cytochrome-C_Oxidase_Deficiency |
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| prefLabel |
Cytochrome-C_Oxidase_Deficiency |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Specific_Enzyme_Deficiency |
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