Human Disease Ontology

Last uploaded: November 1, 2024
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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

MESH:D017240

NCI:C101328

SNOMEDCT_US_2023_03_01:240096000

MIM:251900
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#NCIthesaurus

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

mitochondrial myopathy
notation

DOID:699
prefLabel

mitochondrial myopathy
subClassOf

http://purl.obolibrary.org/obo/DOID_423
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http://purl.obolibrary.org/obo/DOID_699 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_699 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_699 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_699 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_699 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_699 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_699 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_699 FNS-H SAME_URI
http://purl.bioontology.org/ontology/MEDDRA/10027710 MEDDRA LOOM
http://www.projecthalo.com/aura#Mitochondrial-Myopathy AURA LOOM
rgo:27444 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_206966 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_206966 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_206966 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_206966 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51600 SNMI LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162670 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Mitochondrial_Myopathy PEDTERM LOOM
http://www.limics.fr/ontologies/ontolurgences#MyopathieMitochondriale ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/DOID_699 CLO LOOM
http://purl.obolibrary.org/obo/DOID_699 DTO LOOM
http://purl.obolibrary.org/obo/DOID_699 BAO LOOM
http://purl.obolibrary.org/obo/DOID_699 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_699 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_699 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_699 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_699 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mitochondrial_Myopathy CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18555 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C101328 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU005171 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/16851005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/HP_0003737 HP LOOM
http://purl.obolibrary.org/obo/HP_0003737 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0003737 OBA LOOM
http://localhost/plosthes.2017-1#10637 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009755 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101328 NCIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_699 NATPRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Mitochondrial_Myopathy ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Mitochondrial_Myopathy MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Mitochondrial_Myopathy EPISEM LOOM