Nemaline Myopathy 8
Disease ID: disease_node_18937
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615348 |
|---|---|
| Subclassof | DOID_3191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NEM8, nemaline myopathy 8, autosomal recessive |
| Doid Label | nemaline myopathy 8 |
| Doid Description | A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18937 |
| Doid Id | DOID_0110930 |
| Label | Nemaline Myopathy 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Myopathies, Nemaline(ID:disease_node_9296) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)