About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory