| Metadata | |
|---|---|
| ID | DOID:0081375 |
| Name | nemaline myopathy 5C |
| Definition | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/35510366/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a nemaline myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |