Developmental and Epileptic Encephalopathy 43

Preferred Label : Developmental and Epileptic Encephalopathy 43;

NCIt synonyms : DEE43;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the GABRB3 gene, encoding gamma-aminobutyric acid receptor subunit beta-3.;

Détails

Origin ID

C215153;

Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- GABRB3 Gene [NCIt concept]

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