Myofibrillar Myopathy 8
Disease ID: disease_node_18978
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617258 |
|---|---|
| Subclassof | DOID_0080307, DOID_0050737 |
| Data Source | DOID |
| Doid Label | myofibrillar myopathy 8 |
| Doid Description | A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18978 |
| Doid Id | DOID_0080308 |
| Label | Myofibrillar Myopathy 8 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)