Disease association ontology term - MONDO:0014593 - developmental and epileptic encephalopathy, 29

Term summary

ID

MONDO:0014593

Name

developmental and epileptic encephalopathy, 29

Ontology or CV name

Disease association

Definition

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

Parents

• is_a undetermined early-onset epileptic encephalopathy
• is_a neonatal-onset developmental and epileptic encephalopathy
• is_a AARS1-related leukoencephalopathy

Annotation