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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 C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: WBP11 spliceosomopathy ClinVar PMID:25741868 PMID:33276377 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		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 ClinVar
OMIM		 PMID:25741868 PMID:33276377 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Multiple Abnormalities 3835
            VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS 2
paths to the root