Preferred Name |
Leigh disease |
|
Synonyms |
juvenile subacute necrotizing encephalomyelopathy |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3652 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0023264 OMIM:256000 ICD10CM:G31.82 SNOMEDCT_US_2023_03_01:29570005 MESH:D007888 GARD:6877 NCI:C84814 ORDO:506 |
|
has exact synonym |
juvenile subacute necrotizing encephalomyelopathy Infantile necrotizing encephalomyelopathy Leigh syndrome |
|
has symptom |
http://purl.obolibrary.org/obo/SYMP_0019145 http://purl.obolibrary.org/obo/SYMP_0000654 |
|
has_obo_namespace |
disease_ontology |
|
has_related_synonym |
subacute necrotizing encephalomyelopathy |
|
id |
DOID:3652 |
|
in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
label |
Leigh disease |
|
notation |
DOID:3652 |
|
prefLabel |
Leigh disease |
|
textual 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. |
|
subClassOf |