Disease association ontology term - MONDO:0014647 - developmental and epileptic encephalopathy, 50
Term summary
ID
MONDO:0014647
Name
developmental and epileptic encephalopathy, 50
Ontology or CV name
Disease association
Parents
is_a
congenital nervous system disorder
is_a
congenital disorder of glycosylation type I
is_a
disorder of multiple glycosylation
is_a
inborn disorder of pyrimidine metabolism
is_a
genetic developmental and epileptic encephalopathy
Annotation
Disease association
MONDO:0014647
-
developmental and epileptic encephalopathy, 50
References:
PB_REF:0000006
Genes:
ura1 (SPAC22G7.06c)