Congenital Myopathy 20
Disease ID: disease_node_18953
Connections displayed (default: 10).
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| Dbxref | MIM:620310 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 20 |
| Doid Description | A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18953 |
| Doid Id | DOID_0081352 |
| Label | Congenital Myopathy 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)