WormBase Tree Display for DO_term: DOID:0110662
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| DOID:0110662 | Name | congenital myasthenic syndrome 1B | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. | ||||
| Synonym | Exact (2) | ||||
| Parent | Is_a (3) | ||||
| DB_info | Database | OMIM | disease | 608930 | |
| Attribute_of | Gene_by_orthology (8) |
