Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

Leigh disease

Synonyms

juvenile subacute necrotizing encephalomyelopathy

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

ID

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

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0023264

OMIM:256000

ICD10CM:G31.82

SNOMEDCT_US_2023_03_01:29570005

MESH:D007888

GARD:6877

NCI:C84814

ORDO:506

has exact synonym

juvenile subacute necrotizing encephalomyelopathy

Infantile necrotizing encephalomyelopathy

Leigh syndrome

has symptom

http://purl.obolibrary.org/obo/SYMP_0019145

http://purl.obolibrary.org/obo/SYMP_0000654

http://purl.obolibrary.org/obo/SYMP_0000309

http://purl.obolibrary.org/obo/SYMP_0000124

has_obo_namespace

disease_ontology

has_related_synonym

subacute necrotizing encephalomyelopathy

id

DOID:3652

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Leigh disease

notation

DOID:3652

prefLabel

Leigh disease

textual definition

A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

subClassOf

http://purl.obolibrary.org/obo/DOID_3762

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3652 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_3652 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007888 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038583 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D007888 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0008983 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.810.444 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.810.444 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3652 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3652 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3652 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3652 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3652 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.520 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84814 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7287 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.412 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Leigh_Disease CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84814 NCIT LOOM
http://purl.jp/bio/4/id/200906025520748317 IOBC LOOM
http://www.gamuts.net/entity#Leigh_disease GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.412 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.412 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.412 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3652 NATPRO LOOM