| Metadata | |
|---|---|
| ID | DOID:0081374 |
| Name | nemaline myopathy 5B |
| Definition | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. https://pubmed.ncbi.nlm.nih.gov/35165004/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |