WormBase Tree Display for DO_term: DOID:0110672
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DOID:0110672 | Name | congenital myasthenic syndrome 21 | |||
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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 |