Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2
go back to main search page
Accession:DOID:0112102 term browser browse the term
Definition:A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13. (DO)
Synonyms:exact_synonym: SOTOS2
 primary_id: OMIM:614753
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Sotos syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by OMIM:614753
ClinVar Annotator: match by term: Sotos syndrome 2
OMIM
ClinVar
PMID:20673863 PMID:22301465 PMID:24088041 PMID:24375697 PMID:25741868 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Sotos syndrome 4
        Sotos syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              Sotos syndrome 4
                Sotos syndrome 2 1
paths to the root