| Metadata | |
|---|---|
| ID | DOID:0080719 |
| Name | congenital myopathy 6 |
| Definition | A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/24193343/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
inclusion body myopathy 3 [EXACT] proximal myopathy and ophthalmoplegia [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance has symptom some muscle weakness |