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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: MIM:609029


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Emanuel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3457
            Craniofacial Abnormalities 2779
              Maxillofacial Abnormalities 315
                Jaw Abnormalities 269
                  orofacial cleft 160
                    cleft palate 118
                      Emanuel Syndrome 0
paths to the root