ONTOLOGY REPORT - ANNOTATIONS


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: CHROMOSOME 5q35 DELETION SYNDROME;   SOTOS' SYNDROME;   Soto syndrome;   Soto's syndrome;   Sotos Sequence;   cerebral gigantism;   cerebral gigantisms
 primary_id: MESH:D058495
 alt_id: RDO:0001554
 xref: GARD:10091;   OMIM:PS117550;   ORDO:821
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Sotos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:13592920
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:9590145
RGD:8554872
RGD:11554173
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Sotos Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:7240710
RGD:8554872
Sotos Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:7240710
RGD:8554872
Sotos Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc2 APC regulator of WNT signaling pathway 2 JBrowse link 7 12,258,468 12,280,459 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Sotos syndrome 9
        Ehlers-Danlos Syndrome Type 6 + 6
        Sotos Syndrome 1 1
        Sotos Syndrome 2 1
        Sotos Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                Sotos syndrome 9
                  Ehlers-Danlos Syndrome Type 6 + 6
                  Sotos Syndrome 1 1
                  Sotos Syndrome 2 1
                  Sotos Syndrome 3 1
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.