Myofibrillar Myopathy 1
Disease ID: disease_node_18984
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.0, MIM:601419, ORDO:363543 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080307, DOID_0050737 |
| Data Source | DOID |
| Synonyms | autosomal recessive limb-girdle muscular dystrophy type 2R, desminopathy |
| Doid Label | myofibrillar myopathy 1 |
| Doid Description | A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_18984 |
| Doid Id | DOID_0080092 |
| Label | Myofibrillar Myopathy 1 |
| Doid Alternate Ids | DOID_0110286 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)