WormBase Tree Display for DO_term: DOID:0110659
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| DOID:0110659 | Name | congenital myasthenic syndrome 7 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. | ||||
| Synonym | Exact | CMS7 | |||
| congenital myasthenic syndrome 7 presynaptic | |||||
| Parent | Is_a | DOID:3635 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 616040 | |
| Attribute_of | Gene_by_orthology | WBGene00004921 | |||
| WBGene00004923 |
