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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 16465
    syndrome 9495
      orofacial cleft 149
        cleft palate 113
          Coloboma of Macula and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Craniofacial Abnormalities 2528
              Maxillofacial Abnormalities 301
                Jaw Abnormalities 257
                  orofacial cleft 149
                    cleft palate 113
                      Coloboma of Macula and Skeletal Anomalies 0
paths to the root