developmental and epileptic encephalopathy 101 Disease Ontology Browser

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developmental and epileptic encephalopathy 101 (DOID:0070387)
Alliance: disease page
Synonyms: DEE101; early infantile epileptic encephalopathy 101
Alt IDs: OMIM:619814
Definition: A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.

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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