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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:Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
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Accession:DOID:9004722 term browser browse the term
Synonyms:primary_id: MESH:C566484
 alt_id: OMIM:610023



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        Eye Abnormalities 778
          coloboma 121
            Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              Eye Abnormalities 778
                coloboma 121
                  Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
paths to the root