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myofibrillar myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0018943

Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. [ Orphanet:593 ]

Synonyms: myofibrillar myopathy (disease) myofibrillar myopathy

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C2678065 (Orphanet:593)
  • HP:0003715 (MONDO:otherHierarchy)
  • OMIMPS:601419 (MONDO:equivalentTo)
  • SCTID:699269005 (MONDO:equivalentTo)
  • NCIT:C83009 (MONDO:equivalentTo)
  • DOID:0080307 (MONDO:equivalentTo)
  • ICD9:359.89 (MONDO:relatedTo)
  • GARD:10529 (Orphanet:593)
  • MESH:C580316 (MONDO:equivalentTo)
  • Orphanet:593 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders

IAO 0000589

myofibrillar myopathy (disease)

exactMatch

http://identifiers.org/snomedct/699269005

http://purl.obolibrary.org/obo/NCIT_C83009

http://linkedlifedata.com/resource/umls/id/C2678065

http://purl.obolibrary.org/obo/DOID_0080307

http://identifiers.org/mesh/C580316

http://www.orpha.net/ORDO/Orphanet_593

https://omim.org/phenotypicSeries/PS601419

has related synonym

Protein surplus myopathy (former name)

Zaspopathy (type)

Alpha Beta crystallinopathy (type)

desmin related myopathy (former name)

myotilinopathy (type)

myofibrillar myopathies

desmin storage myopathy (former name)

filaminopathy (type)

Desminopathy (type)

id

MONDO:0018943

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018943

Term relations