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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:Caudal Duplication Anomaly
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Accession:DOID:9002004 term browser browse the term
Synonyms:primary_id: MESH:C564315;   RDO:0013323
 alt_id: OMIM:607864

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Caudal Duplication Anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Caudal duplication anomaly OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:599,963...633,837
Ensembl chrNW_004936501:599,919...633,873 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7058
          Caudal Duplication Anomaly 1
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