myofibrillar myopathy 2
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
MONDO:0016108
autosomal dominant distal myopathy
is_a
MONDO:1060212
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
is_a
CRYAB autosomal dominant distal myopathy
exact
CRYAB-related myofibrillar myopathy
exact
MFM2
related
alpha-B crystallinopathy
exact
autosomal dominant distal myopathy caused by mutation in CRYAB
exact
late-onset distal crystallinopathy
exact
myofibrillar myopathy type 2
exact
myopathy, myofibrillar, 2
related
myopathy, myofibrillar, type 2
exact
SPBC3E7.02c SPCC338.06c