loading...| Preferred Name |
Leigh Disease [Disease/Finding] |
|
| Synonyms |
Leigh's Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001801 |
|
| altLabel |
Leigh's Disease Leigh Disease Encephalomyelitis, Subacute Necrotizing Encephalopathy, Subacute Necrotizing Encephalomyelopathy, Subacute Necrotizing Subacute Necrotizing Encephalomyelopathy Leigh Syndrome Subacute Necrotizing Encephalopathy |
|
| cui |
C0023264 |
|
| MESH DEFINITION |
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850). |
|
| MESH DUI |
D007888 |
|
| MeSH name |
Leigh Disease |
|
| MESH UI |
M0012315 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001801 |
|
| NUI |
N0000001801 |
|
| prefLabel |
Leigh Disease [Disease/Finding] |
|
| SNOMED CID |
29570005 |
|
| tui |
T047 |
|
| subClassOf |