| Metadata | |
|---|---|
| ID | DOID:0110928 |
| Name | nemaline myopathy 2 |
| Definition | A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. https://www.ncbi.nlm.nih.gov/pubmed/10051637, https://www.ncbi.nlm.nih.gov/pubmed/15221447 |
| Xrefs | |
| Synonyms |
congenital myopathy 2 [EXACT] NEM2 [EXACT] nemaline myopathy 2, autosomal recessive [EXACT] |
| Parent Relationships |
is_a nemaline myopathy |