WormBase Tree Display for DO_term: DOID:0081341
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| DOID:0081341 | Name | congenital myopathy 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. | ||||
| Synonym | Exact | Salih myopathy | |||
| congenital myopathy-5 with cardiomyopathy | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0081337 | |||||
| DB_info | Database | OMIM | disease | 611705 | |
| Attribute_of | Gene_by_orthology | WBGene00006759 |
