loading...| Preferred Name | ARX-related epileptic encephalopathy | |
| Synonyms |
Developmental and epileptic encephalopathy-1 (DEE1) |
|
| Definitions |
Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy. DEE1 is caused by mutation in the ARX gene. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0700044 |
|
| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| database_cross_reference |
Orphanet:182079 |
|
| definition |
Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy. DEE1 is caused by mutation in the ARX gene. |
|
| has_exact_synonym |
Developmental and epileptic encephalopathy-1 (DEE1) |
|
| label |
ARX-related epileptic encephalopathy |
|
| preferred label |
ARX-related epileptic encephalopathy |
|
| prefixIRI |
efo:EFO_0700044 |
|
| prefLabel |
ARX-related epileptic encephalopathy |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0700044 | CCONT | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_18207 | HRDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_182079 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015921 | DOVES | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0700044 | CCONT | LOOM |