A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. [ url:https://rarediseases.org/rare-diseases/leigh-syndrome/ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 url:http://ghr.nlm.nih.gov/condition/leigh-syndrome url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ url:http://en.wikipedia.org/wiki/Leigh%27s_disease http://purl.obolibrary.org/obo/ECO_0007636 ]
Synonyms: Leigh syndrome juvenile subacute necrotizing encephalomyelopathy Infantile necrotizing encephalomyelopathy
Term information
- MESH:D007888
- SNOMEDCT_US_2023_03_01:29570005
- GARD:6877
- ICD10CM:G31.82
- MIM:256000
- UMLS_CUI:C0023264
- ORDO:506
- NCI:C84814
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
Term relations
- cytochrome-c oxidase deficiency disease
- has symptom some seizure
- has symptom some vomiting
- has symptom some loss of appetite
- has symptom some irritability