|
General Information
|
| Term |
congenital myasthenic syndrome 7 |
ID (Ontology) |
DOID:0110659 (Human Disease) |
| 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. |
| Also Known As |
"CMS7" ; "congenital myasthenic syndrome 7 presynaptic" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
congenital myasthenic syndrome 7 | 1 | 3 | 1 | for disease ribbon | congenital myasthenic syndrome 7 | -- | 3 | -- | model of | congenital myasthenic syndrome 7 | 1 | 3 | -- |
|
Relationships