Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Isolated cytochrome C oxidase deficiency 2 Cytochrome c oxidase deficiency ORPHA254905 E88.8 *124089
Isolated cytochrome C oxidase deficiency 2 Cytochrome c oxidase deficiency ORPHA254905 E88.8 *124089
Leigh syndrome 30 Leigh syndrome, due to COX deficiency, SURF1 ORPHA506 G71.3 *185620
Leigh syndrome 10 Leigh syndrome, due to COX deficiency, SURF1 ORPHA506 G71.3 *185620
Leigh syndrome 1 Leigh syndrome due to cytochrome c oxidase deficiency ORPHA506 G71.3 *603646

ICD 10 Categories

Disease Areas (ICD10)