| Metadata | |
|---|---|
| ID | DOID:0061256 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061256 Copy |
| Name | congenital myopathy 25 |
| Definition | A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/39209426/ |
| Xrefs | |
| Parent Relationships |
is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |