loading...| Preferred Name |
developmental and epileptic encephalopathy, 2 |
| Synonyms |
EIEE2 DEE2 developmental and epileptic encephalopathy, 2 epileptic encephalopathy, early infantile, 2 epileptic encephalopathy, early infantile, type 2 infantile spasm syndrome, X-linked 2 early infantile epileptic encephalopathy caused by mutation in CDKL5 developmental and epileptic encephalopathy 2, X-linked dominant CDKL5 early infantile epileptic encephalopathy |
| Definitions |
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010396 |
| database_cross_reference |
Orphanet:505652 OMIM:300672 MESH:C564064 DOID:0080467 UMLS:C1839333 |
| definition |
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. |
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_505652 |
| has_exact_synonym |
EIEE2 DEE2 developmental and epileptic encephalopathy, 2 epileptic encephalopathy, early infantile, 2 epileptic encephalopathy, early infantile, type 2 early infantile epileptic encephalopathy caused by mutation in CDKL5 developmental and epileptic encephalopathy 2, X-linked dominant CDKL5 early infantile epileptic encephalopathy |
| has_related_synonym |
infantile spasm syndrome, X-linked 2 |
| IAO_0000233 | |
| id |
MONDO:0010396 |
| in_subset | |
| label |
developmental and epileptic encephalopathy, 2 |
| notation |
MONDO:0010396 |
| prefLabel |
developmental and epileptic encephalopathy, 2 |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0100039 http://purl.obolibrary.org/obo/MONDO_0018097 http://purl.obolibrary.org/obo/MONDO_0100062 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100039 http://purl.obolibrary.org/obo/MONDO_0018097 http://purl.obolibrary.org/obo/MONDO_0100062 |