Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. [ Orphanet:199340 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:612954 (Orphanet:199340)
  • DOID:0080097 (MONDO:equivalentTo)
  • Orphanet:199340 (OMIM:612954)
  • ICD10:G71.8 (Orphanet:199340)
  • MESH:C567843 (MONDO:equivalentTo)
Subsets

ordo_disease

clingen preferred
myofibrillar myopathy 6

conformsTo

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

definition

Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080097

http://www.orpha.net/ORDO/Orphanet_199340

https://omim.org/entry/612954

http://identifiers.org/mesh/C567843

has exact synonym

myofibrillar myopathy 6

BAG3 myofibrillar myopathy (disease)

myopathy, myofibrillar, type 6

myofibrillar myopathy type 6

myofibrillar myopathy (disease) caused by mutation in BAG3

has related synonym

muscular dystrophy, Selcen type

BAG3-related myofibrillar myopathy

MFM6

myopathy, myofibrillar, Bag3-related

myopathy, myofibrillar, 6

id

MONDO:0013061