| Metadata | |
|---|---|
| ID | DOID:0061200 |
| Name | Bethlem myopathy 1C |
| Definition | A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/24038877/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620726 broadMatch ORDO:610 broadMatch UMLS_CUI:C1834674 |
| Parent Relationships |
is_a autosomal dominant disease is_a Bethlem myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |