JSON

developmental and epileptic encephalopathy, 28

Go to external page http://purl.obolibrary.org/obo/MONDO_0014533

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. [ MONDO : patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
exactMatch
  • http://purl.obolibrary.org/obo/DOID_0080452
  • http://linkedlifedata.com/resource/umls/id/C4015519
  • https://omim.org/entry/616211
has exact synonym
  • EIEE28
  • epileptic encephalopathy, early infantile, 28
  • epileptic encephalopathy, early infantile, type 28
  • WWOX early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy caused by mutation in WWOX
  • developmental and epileptic encephalopathy 28
  • DEE28
  • WWOX-related epileptic encephalopathy
  • WOREE syndrome
id
  • MONDO:0014533
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/3829
  • https://github.com/monarch-initiative/mondo/issues/4521