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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:Sotos syndrome 1
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Accession:DOID:0112103 term browser browse the term
Definition:A Sotos syndrome that has_material_basis_in heterozygous mutation in NSD1 or deletion in the chromosome region 5q35 that includes NSD1. (DO)
Synonyms:exact_synonym: SOTOS1
 primary_id: OMIM:117550
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 17205
    syndrome 8125
      Sotos syndrome 4
        Sotos syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              Sotos syndrome 4
                Sotos syndrome 1 1
paths to the root