developmental and epileptic encephalopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100062


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. [ http://www.ncbi.nlm.nih.gov/pubmed/28276062 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:230429005 (MONDO:equivalentTo)
  • ICD9:345.6 (DOID:2481)
  • ICD9:345.10 (MONDO:relatedTo)
  • DOID:2481 (MONDO:equivalentObsolete)
  • OMIMPS:308350 (MONDO:pnr)
  • SCTID:28055006 (MONDO:directSiblingOf)
  • GARD:0009255 (MONDO:equivalentTo)
  • EFO:1000643 (MONDO:equivalentTo)
  • MedDRA:10071545 (Orphanet:1934/e)
  • Orphanet:1934 (MONDO:equivalentTo)
  • DOID:0050709 (MONDO:equivalentTo)
  • UMLS:C0037769 (MONDO:directSiblingOf)
  • NCIT:C84788 (MONDO:directSiblingOf)
  • NCIT:C122814 (MONDO:equivalentTo)
Subsets

ordo_clinical_syndrome, clingen

abbreviation
EIEE [ Orphanet : 1934 ]
closeMatch
  • http://identifiers.org/meddra/10071545
comment
  • Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.
creator
  • https://orcid.org/0000-0001-5208-3432
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.
exactMatch
  • http://purl.obolibrary.org/obo/DOID_0050709
  • http://www.orpha.net/ORDO/Orphanet_1934
  • https://omim.org/phenotypicSeries/PS308350
  • http://identifiers.org/snomedct/230429005
  • http://purl.obolibrary.org/obo/NCIT_C122814
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0015921
has exact synonym
  • developmental and epileptic encephalopathy
  • early infantile epileptic encephalopathy with suppression-bursts
  • early infantile epileptic encephalopathy
  • epileptic encephalopathy, early infantile
  • epileptic encephalopathy, infantile
  • infantile spasm
  • early infantile epileptic encephalopathy with burst-suppression
  • EIEE
  • Ohtahara syndrome
  • infantile epileptic encephalopathy
id
  • MONDO:0100062
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/3680