Preferred Name

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Synonyms

myopathy

Definitions

A muscular disease in which the muscle fibers do not function resulting in muscular weakness. A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition

ID

http://www.ebi.ac.uk/efo/EFO_0004145

comment

Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition

database_cross_reference

NCIt:C101216

OMIM:300695

OMIM:181430

MedDRA:10028649

MedDRA:10028641

NCIT:C101216

SCTID:129565002

MONDO:0005336

ICD9:359.9

ICD9:728.3

DOID:423

SCTID:75047002

ICD9:359.8

UMLS:C0026848

definition

A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0026848

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

http://purl.obolibrary.org/obo/NCIT_C101216

http://identifiers.org/snomedct/129565002

gwas_trait

true

has_exact_synonym

myopathy

id

EFO:0004145

in_subset

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

http://purl.obolibrary.org/obo/mondo#inferred_rare

label

myopathy

notation

EFO:0004145

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020120

http://www.ebi.ac.uk/efo/EFO_0002970

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