ONTOLOGY REPORT - ANNOTATIONS


Term:Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
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Accession:DOID:9003412 term browser browse the term
Definition:An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects.(OMIM)
Synonyms:exact_synonym: KYNURENINASE DEFICIENCY, COMPLETE;   VCRL2;   congenital NAD deficiency disorder 2
 primary_id: OMIM:617661
 alt_id: RDO:9005207
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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.