ONTOLOGY REPORT - ANNOTATIONS


Term:Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1
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Accession:DOID:9005044 term browser browse the term
Definition:An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. (OMIM)
Synonyms:exact_synonym: 3-HYDROXYANTHRANILIC ACIDEMIA;   VCRL1;   congenital NAD deficiency disorder 1
 primary_id: OMIM:617660
 alt_id: RDO:9005149
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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Haao 3-hydroxyanthranilate 3,4-dioxygenase JBrowse link 6 7,045,145 7,059,227 RGD:8554872
RGD:7240710
G Mta3 metastasis associated 1 family, member 3 JBrowse link 6 6,904,449 7,036,929 RGD:8554872

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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Multiple Abnormalities 1275
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.