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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 Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHROMOSOME 5q35 DELETION SYNDROME | ClinVar Annotator: match by term: Cerebral gigantism | ClinVar Annotator: match by term: Sotos syndrome
CTD
ClinVar
RGD
PMID:11896389 PMID:12464997 PMID:12525543 PMID:12676901 PMID:12807965 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:12464997 PMID:12676901 PMID:12807965 PMID:14517949 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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: Malan overgrowth syndrome OMIM
ClinVar
PMID:20673863 PMID:20949508 PMID:22301465 PMID:24088041 PMID:24375697 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 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 1 2
        Sotos syndrome 2 1
        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 1 2
                Sotos syndrome 2 1
                Sotos syndrome 3 2
paths to the root