early-onset vitamin B6-dependent epilepsy 4 Disease Ontology Browser

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Disease Ontology Browser

early-onset vitamin B6-dependent epilepsy 4 (DOID:0070519)
Alliance: disease page
Synonyms: AASA dehydrogenase deficiency; antiquitin deficiency; EPEO4; PDE-ALDH7A1
Alt IDs: OMIM:266100
Definition: A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.

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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