loading...| Preferred Name |
Leigh syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_506 |
| alternative_term |
Leigh disease Infantile subacute necrotizing encephalopathy |
| definition |
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 |
| has_age_of_onset |
All ages |
| has_inheritance |
Mitochondrial inheritance X-linked recessive Autosomal recessive |
| hasDbXref |
OMIM:256000 MedDRA:10062950 UMLS:C0023264 ICD-11:5C53.24 MeSH:D007888 |
| label |
Leigh syndrome |
| notation |
ORPHA:506 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_2443 http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_225703 |
| prefixIRI |
ORDO:Orphanet_506 |
| prefLabel |
Leigh syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Australia AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_2443 http://www.orpha.net/ORDO/Orphanet_98687 http://www.orpha.net/ORDO/Orphanet_225703 |
| subClassOf |