JSON

Leigh syndrome

^ http://purl.obolibrary.org/obo/MONDO_0009723

A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. [ Orphanet:506 ]

Term info

database cross reference
  • MedDRA:10062950 (Orphanet:506/e)
  • GARD:0006877 (MONDO:equivalentTo)
  • Orphanet:506 (OMIM:256000)
  • MESH:D007888 (Orphanet:506/e)
  • NCIT:C84814 (MONDO:equivalentTo)
  • ICD9:330.8 (MONDO:relatedTo)
  • OMIM:256000 (Orphanet:506/e)
  • DOID:3652 (MONDO:equivalentTo)
  • UMLS:C0023264 (Orphanet:506/e)
  • SCTID:29570005 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6090

closeMatch

http://identifiers.org/meddra/10062950

definition

A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0023264, http://identifiers.org/mesh/D007888, http://purl.obolibrary.org/obo/DOID_3652, http://identifiers.org/snomedct/29570005, https://omim.org/entry/256000, http://purl.obolibrary.org/obo/NCIT_C84814, http://purl.obolibrary.org/obo/Orphanet_506

has exact synonym

infantile necrotizing encephalomyelopathy, Leigh syndrome spectrum, Leigh syndrome, juvenile subacute necrotizing encephalomyelopathy, Leigh disease, LS, infantile subacute necrotizing encephalopathy, LSS, Leigh's disease

has related synonym

subacute necrotizing encephalopathy, Leigh's necrotizing encephalopathy, necrotizing encephalopathy, infantile Subacute, of Leigh, SNE, subacute necrotizing encephalomyelopathy, Leigh syndrome due to mitochondrial Complex 5 deficiency, Leigh syndrome due to mitochondrial Complex 1 deficiency, Leigh syndrome due to mitochondrial Complex 4 deficiency, Leigh syndrome due to mitochondrial Complex 2 deficiency, Leigh syndrome due to mitochondrial Complex 3 deficiency

id

MONDO:0009723