developmental and epileptic encephalopathy, 46

Go to external page http://purl.obolibrary.org/obo/MONDO_0014947


Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D 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 GRIN2D gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310687

http://purl.obolibrary.org/obo/DOID_0080456

https://omim.org/entry/617162

has exact synonym

GRIN2D early infantile epileptic encephalopathy

early infantile epileptic encephalopathy caused by mutation in GRIN2D

EIEE46

DEE46

epileptic encephalopathy, early infantile, 46; EIEE46

epileptic encephalopathy, early infantile, 46

epileptic encephalopathy, early infantile, type 46

id

MONDO:0014947