WormBase Tree Display for DO_term: DOID:0110663
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| DOID:0110663 | Name | congenital myasthenic syndrome 1A | |||
|---|---|---|---|---|---|
| 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 | DOID:3635 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 601462 | |
| Attribute_of | Gene_by_orthology | WBGene00000043 | |||
| WBGene00000047 | |||||
| WBGene00000051 | |||||
| WBGene00002974 | |||||
| WBGene00002975 | |||||
| WBGene00006765 | |||||
| WBGene00006774 | |||||
| WBGene00006797 |
