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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 ClinVar
OMIM
PMID:25741868 PMID:28792876 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        inherited metabolic disorder 2606
          amino acid metabolic disorder 448
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Multiple Abnormalities 2430
            Vertebral, Cardiac, Renal, and Limb Defects Syndromes 3
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
paths to the root