loading...| Preferred Name | developmental and epileptic encephalopathy | |
| Synonyms |
infantile spasm infantile epileptic encephalopathy epileptic encephalopathy, early infantile early infantile epileptic encephalopathy with suppression-bursts early infantile epileptic encephalopathy with burst-suppression epileptic encephalopathy, infantile early infantile epileptic encephalopathy Ohtahara syndrome developmental and epileptic encephalopathy DEE EIEE |
|
| Definitions |
A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0100062 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0100062 |
|
| database_cross_reference |
ICD9:345.10 DOID:0112202 MEDGEN:97959 SCTID:28055006 NCIT:C122814 NANDO:1200593 NCIT:C84788 UMLS:C0393706 MedDRA:10071545 Orphanet:1934 OMIMPS:308350 DOID:0050709 SCTID:230429005 DOID:2481 GARD:9255 ICD9:345.6 |
|
| dc_date |
2018-10-10T22:04:15Z |
|
| definition |
A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. |
|
| has_exact_synonym |
infantile spasm infantile epileptic encephalopathy epileptic encephalopathy, early infantile early infantile epileptic encephalopathy with suppression-bursts early infantile epileptic encephalopathy with burst-suppression epileptic encephalopathy, infantile early infantile epileptic encephalopathy Ohtahara syndrome developmental and epileptic encephalopathy DEE EIEE |
|
| IAO_0000233 | ||
| id |
MONDO:0100062 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_clinical_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
developmental and epileptic encephalopathy |
|
| notation |
MONDO:0100062 |
|
| preferred label |
developmental and epileptic encephalopathy |
|
| prefLabel |
developmental and epileptic encephalopathy |
|
| see also |
https://www.epilepsydiagnosis.org/syndrome/ohtahara-overview.html |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/97959 http://identifiers.org/snomedct/230429005 http://purl.obolibrary.org/obo/DOID_0050709 http://linkedlifedata.com/resource/umls/id/C0393706 http://purl.obolibrary.org/obo/NCIT_C122814 http://purl.obolibrary.org/obo/DOID_0112202 |
|
| terms_creator | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0100038 |
|
| excluded_subClassOf |