Disease association ontology term - MONDO:0015653 - monogenic epilepsy

Term summary

ID: MONDO:0015653
Name: monogenic epilepsy
Ontology or CV name: Disease association

Parents

is_a epilepsy

Annotation

Disease association

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

PB_REF:0000006

Genes:

rnf13 (SPAC57A7.09)

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

PB_REF:0000006

Genes:

otu2 (SPAC1952.03)

MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

References:

PB_REF:0000006

Genes:

puf3 (SPAC1687.22c)