|
General Information
|
| Term |
developmental and epileptic encephalopathy 41 |
ID (Ontology) |
DOID:0080442 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. |
| Also Known As |
"DEE41" ; "early infantile epileptic encephalopathy 41" |
| 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 |
|
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 |
|---|
developmental and epileptic encephalopathy 41 | 1 | 1 | for disease ribbon | developmental and epileptic encephalopathy 41 | -- | 1 | model of | developmental and epileptic encephalopathy 41 | 1 | 1 |
|
Relationships