WormBase Tree Display for DO_term: DOID:0110672
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| DOID:0110672 | Name | congenital myasthenic syndrome 21 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. | ||||
| Synonym | Exact | CMS21 | |||
| congenital myasthenic syndrome 21, presynaptic | |||||
| Parent | Is_a | DOID:3635 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 617239 | |
| Attribute_of | Gene_by_orthology | WBGene00006756 |
