Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

mitochondrial encephalomyopathy
Synonyms
Definitions

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)

ID

http://purl.obolibrary.org/obo/MONDO_0004675

database_cross_reference

ICD9:277.87

UMLS:C0162666

SCTID:447292006

DOID:890

MEDGEN:57960

MESH:D017237

definition

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)

id

MONDO:0004675

in_subset

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

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

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

label

mitochondrial encephalomyopathy

notation

MONDO:0004675

prefLabel

mitochondrial encephalomyopathy

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0162666

http://purl.obolibrary.org/obo/DOID_890

http://identifiers.org/mesh/D017237

http://identifiers.org/snomedct/447292006

http://identifiers.org/medgen/57960

treeView

http://purl.obolibrary.org/obo/MONDO_0009637

subClassOf

http://purl.obolibrary.org/obo/MONDO_0009637

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