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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: EFO:0004147;   GARD:10091;   MONDO:0019349;   NCI:C75019;   OMIM:PS117550;   ORDO:821
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Sotos syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875 		JBrowse link
G ARL10 ADP ribosylation factor like GTPase 10 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,496,823...81,506,344
Ensembl chr 2:81,496,825...81,506,329 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G CANX calnexin ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,879,031...78,915,828
Ensembl chr 2:78,879,033...78,915,827 		JBrowse link
G CBY3 chibby family member 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,933,852...78,936,011 JBrowse link
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,319,179...81,361,598
Ensembl chr 2:81,318,407...81,361,606 		JBrowse link
G CLK4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,729,460...79,752,945
Ensembl chr 2:79,693,669...79,753,712 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,488,191...81,498,623
Ensembl chr 2:81,488,092...81,495,014 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,464,887...81,484,712
Ensembl chr 2:81,464,917...81,485,419 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPLX2 complexin 2 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,732,527...81,813,189
Ensembl chr 2:81,732,533...81,813,271 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G FAF2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,401,852...81,454,272
Ensembl chr 2:81,401,859...81,454,262 		JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,307,732...81,319,183
Ensembl chr 2:81,315,368...81,318,382 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,486,890...81,488,039
Ensembl chr 2:81,486,890...81,488,045 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,186,998...80,194,155 JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949 		JBrowse link
G KIAA1191 KIAA1191 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,506,407...81,539,624
Ensembl chr 2:81,520,408...81,539,624 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594 		JBrowse link
G LOC100620238 zinc finger protein 454 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,491,750...79,549,974
Ensembl chr 2:79,512,767...79,549,925
Ensembl chr 2:79,512,767...79,549,925 		JBrowse link
G LTC4S leukotriene C4 synthase ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,818,658...78,876,633
Ensembl chr 2:78,818,411...78,876,615 		JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,783,775...78,798,425
Ensembl chr 2:78,783,785...78,798,423 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:9536098 PMID:11896389 PMID:12464997 PMID:12525543 PMID:12676901 More... NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,142,273...80,188,753
Ensembl chr 2:80,142,033...80,191,957 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,372,427...81,390,232
Ensembl chr 2:81,378,725...81,390,230 		JBrowse link
G RUFY1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,974,361...79,021,677
Ensembl chr 2:78,963,989...79,021,574 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
G SIMC1 SUMO interacting motifs containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,539,713...81,613,705
Ensembl chr 2:81,539,712...81,613,703 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861 		JBrowse link
G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
G THOC3 THO complex subunit 3 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,658,736...81,670,996
Ensembl chr 2:81,658,788...81,670,127 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585 		JBrowse link
G ZNF354A zinc finger protein 354A ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		JBrowse link
G ZNF354B zinc finger protein 354B ISO ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,579,737...79,602,080
Ensembl chr 2:79,579,753...79,601,137 		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: NSD1-related condition | ClinVar Annotator: match by term: SOTOS SYNDROME 1 OMIM
ClinVar		 PMID:12464997 PMID:14517949 PMID:14571271 PMID:15942875 PMID:16247291 More... NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		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:8910820 PMID:20673863 PMID:20949508 PMID:22301465 PMID:24088041 More... NCBI chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567 		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
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: APC2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:77,005,706...77,034,583
Ensembl chr 2:77,005,706...77,034,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Sotos syndrome 63
        Sotos syndrome 1 2
        Sotos syndrome 2 1
        Sotos syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              Sotos syndrome 63
                Sotos syndrome 1 2
                Sotos syndrome 2 1
                Sotos syndrome 3 2
paths to the root