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Metadata
ID DOID:3652
Name Leigh disease
Definition 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.
https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/, http://ghr.nlm.nih.gov/condition/leigh-syndrome, http://en.wikipedia.org/wiki/Leigh%27s_disease, https://rarediseases.org/rare-diseases/leigh-syndrome/
Xrefs

GARD:6877

ICD10CM:G31.82

MESH:D007888

MIM:256000

NCI:C84814

ORDO:506

SNOMEDCT_US_2023_03_01:29570005

UMLS_CUI:C0023264

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Infantile necrotizing encephalomyelopathy [EXACT]

juvenile subacute necrotizing encephalomyelopathy [EXACT]

Leigh syndrome [EXACT]

subacute necrotizing encephalomyelopathy [RELATED]

Parent Relationships

is_a cytochrome-c oxidase deficiency disease

Subclass Logical Relationships

has symptom some irritability

has symptom some seizure

has symptom some loss of appetite

has symptom some vomiting

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