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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_506
http://www.orpha.net/ORDO/Orphanet_506
|
|---|---|
| Preferred Name | Leigh syndrome |
| Definitions |
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
|
| Synonyms |
Leigh disease
Infantile subacute necrotizing encephalopathy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. |
| label |
Leigh syndrome
|
| prefLabel |
Leigh syndrome
|
| hasDbXref |
ICD-11:5C53.24
MeSH:D007888
OMIM:256000
UMLS:C0023264
ICD-10:G31.8
MedDRA:10062950
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|
| notation |
ORPHA:506
|
| alternative_term |
Leigh disease
Infantile subacute necrotizing encephalopathy
|
| present_in |
Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
Europe AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000
Australia AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000
Worldwide AND has_point_prevalence_range : Unknown
|
| part_of | |
| prefixIRI |
ORDO:Orphanet_506
|
| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal recessive
Mitochondrial inheritance
X-linked recessive
|
| has_age_of_onset |
All ages
|
| treeView |
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