Disease association ontology term - MONDO:0032808 - developmental and epileptic encephalopathy, 77
Term summary
ID
MONDO:0032808
Name
developmental and epileptic encephalopathy, 77
Ontology or CV name
Disease association
Parents
is_a
congenital nervous system disorder
is_a
inherited lipid metabolism disorder
is_a
developmental anomaly of metabolic origin
is_a
disorder of GPI anchor biosynthesis
is_a
genetic developmental and epileptic encephalopathy
is_a
multiple congenital anomalies-hypotonia-seizures syndrome
Annotation
Disease association
MONDO:0032808
-
developmental and epileptic encephalopathy, 77
References:
PB_REF:0000006
Genes:
gpi1 (SPBC30D10.11)