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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, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
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Accession:DOID:9008737 term browser browse the term
Definition:This is a syndrome characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs.
Synonyms:exact_synonym: VCTERL;   VCTERL SYNDROME;   WBP11 SPLICEOSOMOPATHY
 primary_id: MIM:619227

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VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: WBP11 spliceosomopathy ClinVar PMID:25741868 PMID:33276377 NCBI chrNW_004624752:23,198,069...23,198,797 JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy OMIM
ClinVar		 PMID:25741868 PMID:33276377 NCBI chrNW_004624752:23,220,021...23,235,739 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    Developmental Disease 12517
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11791
        Congenital Abnormalities 7168
          Multiple Abnormalities 3547
            VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS 2
paths to the root