developmental and epileptic encephalopathy 112 Disease Ontology Browser

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developmental and epileptic encephalopathy 112 (DOID:0051084)
Alliance: disease page
Alt IDs: OMIM:620537
Definition: A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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