Congenital Myopathy 15
Disease ID: disease_node_18964
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:620161 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 15 |
| Doid Description | A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18964 |
| Doid Id | DOID_0081347 |
| Label | Congenital Myopathy 15 |
- 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)