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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 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: MIM:617660


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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 OMIM
ClinVar		 PMID:25741868 PMID:28792876 PMID:33942433 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 ClinVar PMID:31883644 PMID:34681008 PMID:35491967 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15346
    Developmental Disease 13352
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12441
        Congenital Abnormalities 7502
          Multiple Abnormalities 3716
            Vertebral, Cardiac, Renal, and Limb Defects Syndromes 3
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 2
paths to the root