| Metadata | |
|---|---|
| ID | DOID:0081353 |
| Name | congenital myopathy 21 |
| Definition | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. https://pubmed.ncbi.nlm.nih.gov/36264506/, https://pubmed.ncbi.nlm.nih.gov/36344539/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |