| Metadata | |
|---|---|
| ID | DOID:3762 |
| Name | cytochrome-c oxidase deficiency disease |
| 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. https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/26846578, https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders |
| Xrefs |
SNOMEDCT_US_2023_03_01:237991006 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
MITOCHONDRIAL COMPLEX IV DEFICIENCY [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some left upper quadrant abdominal rigidity |