| Metadata | |
|---|---|
| ID | DOID:0061258 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061258 Copy |
| Name | congenital myopathy 27 |
| Definition | A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/38637313/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |