developmental and epileptic encephalopathy, 26

Go to external page http://purl.obolibrary.org/obo/MONDO_0014477


Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare

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 KCNB1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4015119

http://identifiers.org/omim/616056

http://purl.obolibrary.org/obo/DOID_0080461

has exact synonym

epileptic encephalopathy, early infantile, type 26

DEE26

early infantile epileptic encephalopathy caused by mutation in KCNB1

early infantile epileptic encephalopathy 26

epileptic encephalopathy, early infantile, 26

EIEE26

KCNB1 early infantile epileptic encephalopathy

id

MONDO:0014477

seeAlso

https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26