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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:Emanuel Syndrome
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Accession:DOID:9006068 term browser browse the term
Synonyms:exact_synonym: 22) SYNDROME;   Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events;   SUPERNUMERARY DER(22)t(11;   Supernumary Der(22) Syndrome;   Supernumary Der(22)T(11;22) Syndrome;   Supernumary Derivative 22 Chromosome Syndrome;   Supernumerary der(22) syndrome;   Supernumerary der(22)t(11;22) syndrome
 primary_id: MESH:C535733;   RDO:0001016
 alt_id: OMIM:609029


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Emanuel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        Congenital Abnormalities 7571
          Musculoskeletal Abnormalities 3289
            Craniofacial Abnormalities 2641
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft palate 116
                      Emanuel Syndrome 0
paths to the root