developmental and epileptic encephalopathy, 50
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
CAD-CDG
exact
CDG syndrome type Iz
exact
CDG-Iz
exact
CDG1Z
exact
DEE50
exact
EIEE50
exact
carbohydrate deficient glycoprotein syndrome type Iz
exact
congenital disorder of glycosylation type 1z
exact
congenital disorder of glycosylation, type Iz
related
developmental and epileptic encephalopathy 50
exact
epileptic encephalopathy, early infantile, 50
exact
SPAC22G7.06c