Search Ontology:
Human Disease

early-onset vitamin B6-dependent epilepsy 4

Term ID
DOID:0070519
Synonyms
  • AASA dehydrogenase deficiency
  • antiquitin deficiency
  • EPEO4
  • PDE-ALDH7A1
Definition
A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (3)
References
Ontology
Human Disease   ( DOID:0070519 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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