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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 MDH1 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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last database update
10/05/2021
MGI 6.17
The Jackson Laboratory