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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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            amino acid metabolic disorder 337
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
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