developmental and epileptic encephalopathy 88 Disease Ontology Browser

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Disease Ontology Browser

developmental and epileptic encephalopathy 88 (DOID:0112222)
Alliance: disease page
Synonyms: DEE88; early infantile epileptic encephalopathy 88
Alt IDs: OMIM:618959
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.

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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