Term Name: congenital myopathy 23
Synonyms: CAP myopathy 2, NEM4, nemaline myopathy 4, nemaline myopathy 4, autosomal dominant
Definition: A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
Ontology: Human Disease [DOID:0110932]   ( DOID:0110932 )

Relationships
is a type of: autosomal dominant disease congenital myopathy