Disease association ontology term - MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant
Term summary
ID
MONDO:0008409
Name
congenital myopathy 7A, myosin storage, autosomal dominant
Ontology or CV name
Disease association
Parents
is_a
scapuloperoneal myopathy
is_a
congenital nervous system disorder
is_a
neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a
congenital myopathy
Annotation
Disease association
MONDO:0008409
-
congenital myopathy 7A, myosin storage, autosomal dominant
References:
PB_REF:0000006
Genes:
myo2 (SPCC645.05c)
myp2 (SPAC4A8.05c)