Congenital Myopathy 14
Disease ID: disease_node_18965
Connections displayed (default: 10).
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| Dbxref | MIM:618414, ORDO:544602 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 14 |
| Doid Description | A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18965 |
| Doid Id | DOID_0081346 |
| Label | Congenital Myopathy 14 |
- 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)