| Metadata | |
|---|---|
| ID | DOID:0110927 |
| Name | nemaline myopathy 3 |
| Definition | A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/10508519, https://www.ncbi.nlm.nih.gov/pubmed/11333380 |
| Xrefs | |
| Synonyms |
congenital myopathy 2A [EXACT] NEM3 [EXACT] nemaline myopathy 3, autosomal dominant or recessive [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |