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Leigh syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009723

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

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

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:29570005 (MONDO:equivalentTo)
  • OMIM:256000 (Orphanet:506/e)
  • ICD9:330.8 (MONDO:relatedTo)
  • DOID:3652 (MONDO:equivalentTo)
  • NORD:1355 (MONDO:NORD)
  • NANDO:2200527 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10062950 (Orphanet:506/e)
  • UMLS:C0023264 (MONDO:equivalentTo)
  • MESH:D007888 (Orphanet:506/e)
  • GARD:6877 (MONDO:GARD)
  • MEDGEN:44095 (MONDO:equivalentTo)
  • icd11.foundation:672871576 (Orphanet:506)
  • NANDO:1200175 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:506 (OMIM:256000)
  • NCIT:C84814 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, disease_grouping, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10062950

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://www.orpha.net/ORDO/Orphanet_506

http://identifiers.org/medgen/44095

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

http://purl.obolibrary.org/obo/MONDO_0020257

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 4 deficiency

Leigh syndrome due to mitochondrial Complex 1 deficiency

Leigh syndrome due to mitochondrial Complex 2 deficiency

Leigh syndrome due to mitochondrial Complex 3 deficiency

id

MONDO:0009723

term tracker item

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