WormBase Tree Display for DO_term: DOID:0110663
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DOID:0110663 | Name | congenital myasthenic syndrome 1A | |||
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Status | Valid | ||||
Definition | A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. | ||||
Synonym | Exact | CMS IIa | |||
CMS1A | |||||
congenital myasthenic syndrome 1A, slow-channel | |||||
congenital myasthenic syndrome type IIa | |||||
Parent | Is_a (2) | ||||
DB_info | Database | OMIM | disease | 601462 | |
Attribute_of | Gene_by_orthology (8) |