WormBase Tree Display for DO_term: DOID:0080719
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| DOID:0080719 | Name | congenital myopathy 6 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | inclusion body myopathy 3 | |||
| proximal myopathy and ophthalmoplegia | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0050737 | |||||
| DOID:0081337 | |||||
| DB_info | Database | OMIM | disease | 605637 | |
| Attribute_of | Gene_by_orthology | WBGene00002348 | |||
| WBGene00003514 | |||||
| WBGene00003515 | |||||
| WBGene00006789 | |||||
| WBGene00009730 | |||||
| WBGene00019064 |
