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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 3
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Accession:DOID:0112104 term browser browse the term
Definition:A Sotos syndrome that has_material_basis_in homozygous mutation in APC2 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: MRT74;   SOTOS3;   intellectual developmental disorder, autosomal recessive 74
 primary_id: OMIM:617169
For additional species annotation, visit the Alliance of Genome Resources.



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Sotos syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO RGD PMID:25753423 RGD:11055469 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Sotos syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:25753423 PMID:28492532 PMID:33161245 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Sotos syndrome 5
        Sotos syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              Sotos syndrome 5
                Sotos syndrome 3 2
paths to the root