Congenital Myopathy 2C
Disease ID: disease_node_18948
Connections displayed (default: 10).
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| Dbxref | MIM:620278 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 2C |
| Doid Description | A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal domit typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18948 |
| Doid Id | DOID_0081340 |
| Label | Congenital Myopathy 2C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)