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loading...| Preferred Name |
cytochrome-c oxidase deficiency disease |
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| Synonyms |
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| Definitions |
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3762 |
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| definition |
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. |
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| imported from | ||
| label |
cytochrome-c oxidase deficiency disease |
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| prefixIRI |
DOID:3762 |
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| prefLabel |
cytochrome-c oxidase deficiency disease |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_3762 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_3762 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_3762 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_3762 | DOID | 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/MONDO_0009068 | DOVES | LOOM |