Congenital Myasthenic Syndrome 14
Disease ID: disease_node_14288
Connections displayed (default: 10).
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| Dbxref | MIM:616228 |
|---|---|
| Subclassof | DOID_0050737, DOID_3635 |
| Data Source | DOID |
| Synonyms | CMS14, CMSTA3, congenital myasthenic syndrome 14, with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 3 |
| Doid Label | congenital myasthenic syndrome 14 |
| Doid Description | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14288 |
| Doid Id | DOID_0110669 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Myasthenic Syndrome 14 |
- Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (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)