Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

mitochondrial myopathy

Synonyms

mitochondrial cytopathy

Definitions

A myopathy that is characterized by mitochondrial dysfunction. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_699

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0162670

NCI:C101328

OMIM:251900

SNOMEDCT_US_2022_09_01:240096000

MESH:D017240

definition

A myopathy that is characterized by mitochondrial dysfunction.

has exact synonym

mitochondrial cytopathy

has_obo_namespace

disease_ontology

id

DOID:699

in_subset

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

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

label

mitochondrial myopathy

notation

DOID:699

prefLabel

mitochondrial myopathy

subClassOf

http://purl.obolibrary.org/obo/DOID_423

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http://purl.bioontology.org/ontology/OMIM/MTHU005171 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101328 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/251900 Online Mendelian Inheritance in Man LOOM