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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:Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
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 chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: CHROMOSOME 5q35 DELETION SYNDROME
ClinVar Annotator: match by term: Sotos Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:117550
ClinVar
CTD
PMID:12807965, PMID:14517949, PMID:14571271, PMID:15452385, PMID:15580547, PMID:15640245, PMID:16188863, PMID:16232326, PMID:17561922, PMID:18001468, PMID:18414213, PMID:18505455, PMID:20101679, PMID:21972110, PMID:25741868, PMID:28492532, PMID:14571271 RGD:9590145 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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:11896389, PMID:12464997, PMID:12525543, PMID:12676901, PMID:12807965, PMID:14517949, PMID:14571271, PMID:14627693, PMID:14997421, PMID:15452385, PMID:15580547, PMID:15742365, PMID:15942875, PMID:16222665, PMID:16247291, PMID:16329110, PMID:17565729, PMID:18414213, PMID:21196496, PMID:22924495, PMID:23806086, PMID:24088041, PMID:24412544, PMID:25326635, PMID:25326637, PMID:25533962, PMID:25741868, PMID:25741869, PMID:25852445, PMID:26257172, PMID:26633545, PMID:26690673, PMID:26896805, PMID:26938784, PMID:27604501, PMID:27834868, PMID:28475857, PMID:28492532, PMID:29264563, PMID:29276005, PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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 OMIM:614753
ClinVar Annotator: match by term: Sotos syndrome 2
OMIM
ClinVar
PMID:20673863, PMID:22301465, PMID:24088041, PMID:24375697, PMID:25741868, PMID:26633545, PMID:28708303 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
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 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
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 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Sotos syndrome 4
        Sotos Syndrome 1 1
        Sotos Syndrome 2 1
        Sotos Syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Sotos syndrome 4
                  Sotos Syndrome 1 1
                  Sotos Syndrome 2 1
                  Sotos Syndrome 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.