Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	MERRF syndrome
Synonyms	Myoclonic epilepsy - ragged red fibers
Definitions	OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_310
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	MESH:D017243 OMIM:545000 NCI:C84889 UMLS_CUI:C0162672 SNOMEDCT_US_2022_09_01:68448003 ICD10CM:E88.42
has exact synonym	Myoclonic epilepsy - ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers Myoclonus epilepsy AND ragged red fibers Fukuhara syndrome
has_obo_namespace	disease_ontology
id	DOID:310
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	MERRF syndrome
notation	DOID:310
prefLabel	MERRF syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_890

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D017243	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E88.42	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84889	National Cancer Institute Thesaurus	LOOM