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GENE - TERM ANNOTATION REPORT

RGD ID: 14232263
Species: Sus scrofa
RGD Object: Gene
Symbol: HAAO
Name: 3-hydroxyanthranilate 3,4-dioxygenase
Acc ID: DOID:9005044
Term: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1
Definition: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. (OMIM)
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)
HAAO ISOHAAO (Homo sapiens)7240710OMIM  
HAAO ISOHAAO (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1PMID:25741868 PMID:28792876 PMID:33942433
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