Term Name: | nemaline myopathy 2 |
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Synonyms: | congenital myopathy 2, NEM2, nemaline myopathy 2, autosomal recessive |
Definition: | A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. |
Ontology: | Human Disease [DOID:0110928] ( DOID:0110928 ) |