loading...| Preferred Name | Leigh syndrome | |
| Synonyms |
Leigh's necrotizing encephalopathy subacute necrotizing encephalomyelopathy subacute necrotizing encephalopathy Leigh syndrome due to mitochondrial Complex 1 deficiency Leigh syndrome due to mitochondrial Complex 4 deficiency necrotizing encephalopathy, infantile Subacute, of Leigh Leigh syndrome due to mitochondrial Complex 2 deficiency Leigh syndrome due to mitochondrial Complex 5 deficiency Leigh syndrome due to mitochondrial Complex 3 deficiency SNE Leigh syndrome Leigh's disease Leigh syndrome spectrum infantile necrotizing encephalomyelopathy infantile subacute necrotizing encephalopathy juvenile subacute necrotizing encephalomyelopathy Leigh disease LS LSS |
|
| Definitions |
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009723 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009723 |
|
| database_cross_reference |
NANDO:2200527 MEDGEN:44095 OMIM:256000 Orphanet:506 UMLS:C0023264 MedDRA:10062950 icd11.foundation:672871576 SCTID:29570005 NCIT:C84814 MESH:D007888 NANDO:1200175 DOID:3652 GARD:6877 ICD9:330.8 NORD:1355 |
|
| definition |
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. |
|
| has_exact_synonym |
Leigh syndrome Leigh's disease Leigh syndrome spectrum infantile necrotizing encephalomyelopathy infantile subacute necrotizing encephalopathy juvenile subacute necrotizing encephalomyelopathy Leigh disease LS LSS |
|
| has_related_synonym |
Leigh's necrotizing encephalopathy subacute necrotizing encephalomyelopathy subacute necrotizing encephalopathy Leigh syndrome due to mitochondrial Complex 1 deficiency Leigh syndrome due to mitochondrial Complex 4 deficiency necrotizing encephalopathy, infantile Subacute, of Leigh Leigh syndrome due to mitochondrial Complex 2 deficiency Leigh syndrome due to mitochondrial Complex 5 deficiency Leigh syndrome due to mitochondrial Complex 3 deficiency SNE |
|
| IAO_0000233 | ||
| id |
MONDO:0009723 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Leigh syndrome |
|
| notation |
MONDO:0009723 |
|
| preferred label |
Leigh syndrome |
|
| prefLabel |
Leigh syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/672871576 http://identifiers.org/snomedct/29570005 http://purl.obolibrary.org/obo/DOID_3652 http://purl.obolibrary.org/obo/NCIT_C84814 http://identifiers.org/mesh/D007888 http://linkedlifedata.com/resource/umls/id/C0023264 |
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| subClassOf | ||
| excluded_subClassOf |