1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070502 | mitochondrial complex IV deficiency nuclear type 17 | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3762 | cytochrome-c oxidase deficiency disease | 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. |
