|
| General Information | |||
|---|---|---|---|
| Term | congenital myasthenic syndrome 2A | ID (Ontology) | DOID:0110681 (Human Disease) |
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. | ||
| Also Known As | "CMS2A" ; "congenital myasthenic syndrome 2A slow-channel" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease______ physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 2A |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease congenital myasthenic syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
| MIM:616313 | |||