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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 11049598
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV224877
Name: NM_018129.4(PNPO):c.674G>A (p.Arg225His)
Acc ID: DOID:0111329
Term: pyridoxamine 5'-phosphate oxidase deficiency
Definition: A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24658933 "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV224877 IAGP 8554872ClinVarClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures

PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.