early-onset vitamin B6-dependent epilepsy 1 Disease Ontology Browser

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Disease Ontology Browser

early-onset vitamin B6-dependent epilepsy 1 (DOID:0080769)
Alliance: disease page
Synonyms: early-onset vitamin B6-dependent epilepsy; EPEO1; PDE-PLPBP
Alt IDs: OMIM:617290
Definition: A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.

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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