Congenital Myopathy 9A
Disease ID: disease_node_18945
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618822 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 9A |
| Doid Description | A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18945 |
| Doid Id | DOID_0081343 |
| Label | Congenital Myopathy 9A |
- 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)