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ONTOLOGY REPORT - ANNOTATIONS


Term:Williams-Beuren syndrome
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Accession:DOID:1928 term browser browse the term
Definition:A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)
Synonyms:exact_synonym: Beuren syndrome;   Fanconi Schlesinger syndrome;   WBS;   WMS;   WS;   Williams contiguous gene syndrome;   Williams syndrome;   chromosome 7q11.23 deletion syndrome;   chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-MB;   hypercalcemia supravalvar aortic stenosis;   hypercalcemia-supravalvar aortic stenoses;   supravalvar aortic stenosis syndrome
 primary_id: MESH:D018980
 alt_id: OMIM:194050
 xref: ICD10CM:Q93.82;   NCI:C85232
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Williams-Beuren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd11 abhydrolase domain containing 11 JBrowse link 12 24,722,277 24,725,760 RGD:8554872
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) JBrowse link 12 24,721,190 24,722,177 RGD:8554872
G Baz1b bromodomain adjacent to zinc finger domain, 1B JBrowse link 12 24,478,882 24,536,851 RGD:11554173
RGD:8554872
G Bcl7b BAF chromatin remodeling complex subunit BCL7B JBrowse link 12 24,543,748 24,557,093 RGD:8554872
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor JBrowse link 12 24,669,626 24,680,833 RGD:8554872
G Cldn3 claudin 3 JBrowse link 12 21,831,341 21,832,813 RGD:8554872
G Cldn4 claudin 4 JBrowse link 12 24,761,210 24,763,008 RGD:8554872
G Clip2 CAP-GLY domain containing linker protein 2 JBrowse link 12 25,172,957 25,236,935 RGD:734863
RGD:8554872
RGD:13592920
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:11554173
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 JBrowse link 12 24,668,398 24,669,464 RGD:8554872
G Eif4h eukaryotic translation initiation factor 4H JBrowse link 12 25,093,119 25,109,805 RGD:1580597
RGD:8554872
RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207897
RGD:8554872
RGD:11554173
RGD:9585755
G Fkbp6 FKBP prolyl isomerase 6 JBrowse link 12 24,365,941 24,438,088 RGD:1582483
RGD:8554872
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:1582654
G Fzd9 frizzled class receptor 9 JBrowse link 12 24,473,981 24,476,295 RGD:13592920
RGD:8554872
G Gtf2i general transcription factor II I JBrowse link 12 25,410,804 25,487,970 RGD:11554173
RGD:8554872
G Gtf2ird1 GTF2I repeat domain containing 1 JBrowse link 12 25,264,052 25,370,947 RGD:11554173
RGD:8554872
G Lat2 linker for activation of T cells family, member 2 JBrowse link 12 25,114,099 25,128,381 RGD:1549872
RGD:8554872
G Limk1 LIM domain kinase 1 JBrowse link 12 25,036,630 25,070,538 RGD:13592920
RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:13592920
G Mettl27 methyltransferase like 27 JBrowse link 12 24,767,351 24,775,891 RGD:8554872
G Mlxipl MLX interacting protein-like JBrowse link 12 24,590,645 24,619,639 RGD:11554173
RGD:8554872
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:1624399
G Nsun5 NOP2/Sun RNA methyltransferase 5 JBrowse link 12 24,341,940 24,346,900 RGD:8554872
G Rcc1l RCC1 like JBrowse link 12 25,561,871 25,592,337 RGD:1580600
G Rfc2 replication factor C subunit 2 JBrowse link 12 25,130,375 25,143,480 RGD:8554872
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:13592920
G Stx1a syntaxin 1A JBrowse link 12 24,682,050 24,710,002 RGD:8554872
G Tbl2 transducin (beta)-like 2 JBrowse link 12 24,565,843 24,578,855 RGD:8554872
G Tmem270 transmembrane protein 270 JBrowse link 12 24,803,204 24,808,287 RGD:8554872
G Trim50 tripartite motif-containing 50 JBrowse link 12 24,348,426 24,365,467 RGD:8554872
G Vps37d VPS37D subunit of ESCRT-I JBrowse link 12 24,651,342 24,656,793 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      chromosomal deletion syndrome 752
        Williams-Beuren syndrome 32
          Williams-Beuren Region Duplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Williams-Beuren syndrome 32
                      Williams-Beuren Region Duplication Syndrome 0
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.