Congenital Myopathy 8
Disease ID: disease_node_18946
Connections displayed (default: 10).
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| Dbxref | MIM:618654 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 8 |
| Doid Description | A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18946 |
| Doid Id | DOID_0081342 |
| Label | Congenital Myopathy 8 |
- 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)