WormBase Tree Display for DO_term: DOID:0110662
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DOID:0110662 | Name | congenital myasthenic syndrome 1B | |||
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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 | CMS1B | |||
congenital myasthenic syndrome 1B, fast-channel | |||||
Parent | Is_a | DOID:3635 | |||
DOID:0050736 | |||||
DOID:0050737 | |||||
DB_info | Database | OMIM | disease | 608930 | |
Attribute_of | Gene_by_orthology (8) |