Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

Leigh syndrome
Synonyms

Leigh's necrotizing encephalopathy

Leigh syndrome due to mitochondrial Complex 3 deficiency

necrotizing encephalopathy, infantile Subacute, of Leigh

Leigh syndrome due to mitochondrial Complex 4 deficiency

SNE

Leigh syndrome due to mitochondrial Complex 2 deficiency

subacute necrotizing encephalomyelopathy

subacute necrotizing encephalopathy

Leigh syndrome due to mitochondrial Complex 1 deficiency

Leigh syndrome due to mitochondrial Complex 5 deficiency

Leigh's disease

Leigh syndrome spectrum

Leigh disease

LSS

infantile necrotizing encephalomyelopathy

infantile subacute necrotizing encephalopathy

juvenile subacute necrotizing encephalomyelopathy

LS

Leigh syndrome

Definitions

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

ID

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

closeMatch

http://identifiers.org/meddra/10062950

database_cross_reference

MedDRA:10062950

MESH:D007888

Orphanet:506

GARD:6877

icd11.foundation:672871576

OMIM:256000

SCTID:29570005

NORD:1355

DOID:3652

UMLS:C0023264

ICD9:330.8

NCIT:C84814

definition

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

disease has feature

http://purl.obolibrary.org/obo/HP_0000486

exactMatch

http://identifiers.org/snomedct/29570005

http://purl.obolibrary.org/obo/DOID_3652

http://purl.obolibrary.org/obo/NCIT_C84814

https://omim.org/entry/256000

http://identifiers.org/mesh/D007888

http://linkedlifedata.com/resource/umls/id/C0023264

http://purl.obolibrary.org/obo/Orphanet_506

has_exact_synonym

Leigh's disease

Leigh syndrome spectrum

Leigh disease

LSS

infantile necrotizing encephalomyelopathy

infantile subacute necrotizing encephalopathy

juvenile subacute necrotizing encephalomyelopathy

LS

Leigh syndrome

has_related_synonym

Leigh's necrotizing encephalopathy

Leigh syndrome due to mitochondrial Complex 3 deficiency

necrotizing encephalopathy, infantile Subacute, of Leigh

Leigh syndrome due to mitochondrial Complex 4 deficiency

SNE

Leigh syndrome due to mitochondrial Complex 2 deficiency

subacute necrotizing encephalomyelopathy

subacute necrotizing encephalopathy

Leigh syndrome due to mitochondrial Complex 1 deficiency

Leigh syndrome due to mitochondrial Complex 5 deficiency

IAO_0000233

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

id

MONDO:0009723

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

label

Leigh syndrome

notation

MONDO:0009723

prefLabel

Leigh syndrome

treeView

http://purl.obolibrary.org/obo/MONDO_0016387

http://purl.obolibrary.org/obo/MONDO_0020127

excluded subClassOf

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

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016387

http://purl.obolibrary.org/obo/MONDO_0020127

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