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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:Edwards syndrome
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Accession:DOID:1085 term browser browse the term
Definition:A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. (DO)
Synonyms:exact_synonym: E3 trisomy;   complete trisomy 18 syndrome;   mosaic trisomy 18 syndrome;   trisomy 18;   trisomy 18 syndrome;   trisomy E syndrome
 primary_id: MESH:D000073842
 xref: ICD9CM:758.2;   NCI:C101362;   NCI:C36626
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      chromosomal duplication syndrome 1246
        Trisomy 369
          Edwards syndrome 0
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          chromosomal disease 2813
            chromosomal duplication syndrome 1246
              Trisomy 369
                Edwards syndrome 0
paths to the root