Congenital Myopathy 6
Disease ID: disease_node_18956
Connections displayed (default: 10).
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| Dbxref | GARD:9494, MIM:605637, ORDO:79091 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Synonyms | inclusion body myopathy 3, proximal myopathy and ophthalmoplegia |
| Doid Label | congenital myopathy 6 |
| Doid Description | A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_18956 |
| Doid Id | DOID_0080719 |
| Label | Congenital Myopathy 6 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - 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) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)