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GENE - TERM ANNOTATION REPORT

RGD ID: 18451849
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: ALDH7A1
Name: aldehyde dehydrogenase 7 family member A1
Acc ID: DOID:0070519
Term: early-onset vitamin B6-dependent epilepsy 4
Definition: A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1486/ "DO" "DO", PMID:29053735 "DO" "DO", PMID:30043187 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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