Congenital Myasthenic Syndrome 10
Disease ID: disease_node_14289
Connections displayed (default: 10).
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| Dbxref | MIM:254300 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS10, LGM, congenital muscular dystrophy merosin-positive, familial limb-girdle myasthenia |
| Doid Label | congenital myasthenic syndrome 10 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintece of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. |
| Has Symptom | SYMP_0000222 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14289 |
| Doid Id | DOID_0110668 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 10 |
| Doid Alternate Ids | DOID_0110638 |
- Outgoing r'ship
HAS_SYMPTOMto/from Limb Weakness(ID:disease_node_21023) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myasthenic Syndromes, Congenital(ID:disease_node_10478) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)