Congenital Myopathy 5
Disease ID: disease_node_18947
Connections displayed (default: 10).
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| Dbxref | MIM:611705, ORDO:289377 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Synonyms | Salih myopathy, congenital myopathy-5 with cardiomyopathy |
| Doid Label | congenital myopathy 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18947 |
| Doid Id | DOID_0081341 |
| Label | Congenital Myopathy 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)