Congenital Myopathy 22A
Disease ID: disease_node_18951
Connections displayed (default: 10).
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| Dbxref | MIM:620351 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 22A |
| Doid Description | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18951 |
| Doid Id | DOID_0081354 |
| Label | Congenital Myopathy 22A |
- 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)