Disease association ontology term - MONDO:0014933 - developmental and epileptic encephalopathy, 44

Term summary

ID

MONDO:0014933

Name

developmental and epileptic encephalopathy, 44

Ontology or CV name

Disease association

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.

Parents

• is_a undetermined early-onset epileptic encephalopathy
• is_a neonatal-onset developmental and epileptic encephalopathy

Annotation