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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
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Accession:DOID:14748 term browser browse the term
Definition:A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)
Synonyms:exact_synonym: Soto syndrome;   Soto's syndrome;   Sotos sequence;   Sotos' syndrome;   cerebral gigantism;   cerebral gigantisms;   chromosome 5q35 deletion syndrome
 primary_id: MESH:D058495
 xref: GARD:10091;   NCI:C75019;   OMIM:PS117550;   ORDO:821
For additional species annotation, visit the Alliance of Genome Resources.


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Sotos syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISS OMIM:117550 | OMIM:614753 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:117550
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHROMOSOME 5q35 DELETION SYNDROME
ClinVar Annotator: match by term: Sotos Syndrome
ClinVar
CTD
PMID:12807965 PMID:14517949 PMID:14571271 PMID:15452385 PMID:15580547 More... RGD:9590145 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
Sotos syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:11896389 PMID:12464997 PMID:12525543 PMID:12676901 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
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 term: Sotos syndrome 2
ClinVar Annotator: match by OMIM:614753
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
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
ClinVar Annotator: match by term: Sotos syndrome 3
ClinVar
OMIM
PMID:25741868 PMID:25753423 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 17208
    syndrome 8125
      Sotos syndrome 4
        Sotos syndrome 1 1
        Sotos syndrome 2 1
        Sotos syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              Sotos syndrome 4
                Sotos syndrome 1 1
                Sotos syndrome 2 1
                Sotos syndrome 3 2
paths to the root