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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:359.89 (i2s)
  • DOID:0080307 (MONDO:equivalentTo)
  • ICD10:G71.8 (Orphanet:593)
  • Orphanet:593 (MONDO:equivalentTo)
  • UMLS:C2678065 (Orphanet:593)
  • GARD:0010529 (Orphanet-shared)
  • HP:0003715 (MONDO:otherHierarchy)
  • SCTID:699269005 (MONDO:equivalentTo)
  • OMIMPS:601419 (MONDO:equivalentTo)
  • NCIT:C83009 (MONDO:equivalentTo)
  • MESH:C580316 (MONDO:equivalentTo)
Subsets

disease_grouping, clingen, ordo_group_of_disorders

clingen preferred
myofibrillar myopathy [ MONDO:ambiguous OMIMPS:601419 ]

OBO foundry unique label

myofibrillar myopathy (disease)

definition

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.

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 exact synonym

myofibrillar myopathy (disease)

myofibrillar myopathy

has related synonym

Protein surplus myopathy (former name)

Zaspopathy (type)

Alpha Beta crystallinopathy (type)

myotilinopathy (type)

desmin related myopathy (former name)

myofibrillar myopathies

filaminopathy (type)

desmin storage myopathy (former name)

Desminopathy (type)

id

MONDO:0018943

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml