Term Name: nemaline myopathy 3
Synonyms: congenital myopathy 2A, NEM3, nemaline myopathy 3, autosomal dominant or recessive
Definition: A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
Ontology: Human Disease [DOID:0110927]   ( DOID:0110927 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy
inverse disjoint_from: nemaline myopathy 1