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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
  • ICD9:330.8 (MONDO:relatedTo)
  • MESH:D007888 (Orphanet:506/e)
  • GARD:6877 (MONDO:GARD)
  • NORD:1355 (MONDO:NORD)
  • SCTID:29570005 (MONDO:equivalentTo)
  • icd11.foundation:672871576 (Orphanet:506)
  • MedDRA:10062950 (Orphanet:506/e)
  • OMIM:256000 (Orphanet:506/e)
  • NANDO:2200527 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200175 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C84814 (MONDO:equivalentTo)
  • Orphanet:506 (OMIM:256000)
  • UMLS:C2931891 (MONDO:equivalentTo)
  • DOID:3652 (MONDO:equivalentTo)
  • MEDGEN:419518 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, harrisons_view_mitochondrial_disease, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_mitochondrial_disease, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_metabolic_disease

abbreviation
LS [ MONDO:Lexical ]

abbreviation
SNE [ GARD:0006877 ]

ClinGen label
Leigh syndrome [ DOID:3652 Orphanet:506 icd11.foundation:672871576 NCIT:C84814 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10062950

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0009723

exactMatch

http://identifiers.org/mesh/D007888

http://identifiers.org/snomedct/29570005

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

http://identifiers.org/medgen/419518

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/672871576

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

https://omim.org/entry/256000

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

http://linkedlifedata.com/resource/umls/id/C2931891

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 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

term tracker item

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