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Disease association ontology term - MONDO:0015000 - developmental and epileptic encephalopathy, 48

Term summary

ID
MONDO:0015000
Name
developmental and epileptic encephalopathy, 48
Ontology or CV name
Disease association
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.

Parents

Annotation

Disease association

MONDO:0015000 - developmental and epileptic encephalopathy, 48

References:

Genes: