Congenital Myopathy 18
Disease ID: disease_node_18961
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:620246 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 18 |
| Doid Description | A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_18961 |
| Doid Id | DOID_0081350 |
| Label | Congenital Myopathy 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - 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)