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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:Coloboma of Macula and Skeletal Anomalies
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Accession:DOID:9005874 term browser browse the term
Synonyms:primary_id: MESH:C565686
 alt_id: OMIM:216800


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    syndrome 9936
      orofacial cleft 152
        cleft palate 114
          Coloboma of Macula and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 17472
    Developmental Disease 17376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17311
        Congenital Abnormalities 7359
          Musculoskeletal Abnormalities 3221
            Craniofacial Abnormalities 2602
              Maxillofacial Abnormalities 306
                Jaw Abnormalities 259
                  orofacial cleft 152
                    cleft palate 114
                      Coloboma of Macula and Skeletal Anomalies 0
paths to the root