| Term Name: | nemaline myopathy 3 |
|---|---|
| Synonyms: | autosomal dominant typical congenital myopathy 2A, 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 ) |