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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: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
 xref: ICD10CM:Q93.82;   MESH:D018980;   MIM:194050;   MONDO:0008678;   NCI:C85232;   ORDO:904
For additional species annotation, visit the Alliance of Genome Resources.



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Williams-Beuren syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,318,739...27,322,016 JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
CTD
ClinVar
MouseDO
PMID:16448863 PMID:25741868 NCBI chr12:27,068,541...27,126,511 JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,133,412...27,146,631 JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758 JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,345,075...27,346,547 JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,388,160...27,389,958 JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO
ISS
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
RGD
PMID:25741868 PMID:12195424 RGD:734863 NCBI chr12:22,163,044...22,227,023 JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:194050
CTD
MouseDO
PMID:20952458 NCBI chr10:55,239,397...55,267,780 JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398 JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO
ISS
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
RGD
PMID:25741868 PMID:8812460 RGD:1580597 NCBI chr12:22,083,155...22,099,876 JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome
CTD
ClinVar
RGD
PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 PMID:7545578 More... RGD:7207897, RGD:9585755 NCBI chr12:27,604,983...27,648,413 JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD
PMID:25741868 PMID:9782077 RGD:1582483 NCBI chr12:21,318,251...21,390,350 JBrowse link
G Fzd3 frizzled class receptor 3 ISO RGD PMID:9147651 RGD:1582654 NCBI chr15:39,421,366...39,488,369 JBrowse link
G Fzd9 frizzled class receptor 9 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr12:27,063,640...27,065,954 JBrowse link
G Gtf2i general transcription factor II I ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
CTD
ClinVar
MouseDO
PMID:20007321 PMID:21328569 PMID:25741868 NCBI chr12:28,037,344...28,112,677 JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
CTD
ClinVar
MouseDO
PMID:20007321 PMID:25741868 NCBI chr12:22,254,113...22,361,052 JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD
PMID:25741868 PMID:11003705 RGD:1549872 NCBI chr12:22,104,173...22,118,294 JBrowse link
G Limk1 LIM domain kinase 1 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr12:27,663,177...27,697,085 JBrowse link
G Lox lysyl oxidase ISS OMIM:194050 MouseDO NCBI chr18:45,964,544...45,977,431 JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698 JBrowse link
G Mlxipl MLX interacting protein-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr12:27,178,158...27,213,675 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO RGD PMID:16532385 RGD:1624399 NCBI chr12:28,121,816...28,131,080 JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319 JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr12:28,179,205...28,210,462 JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,756,920...27,770,049 JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISS OMIM:194050 MouseDO NCBI chr 3:166,511,616...166,559,463 JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022 JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:27,154,150...27,168,446 JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723 JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668 JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      chromosomal deletion syndrome 1604
        Williams-Beuren syndrome 32
          7q11.23 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      respiratory system disease 5242
        thoracic disease 4050
          heart disease 3477
            heart valve disease 544
              aortic valve disease 387
                aortic valve stenosis 365
                  supravalvular aortic stenosis 33
                    Williams-Beuren syndrome 32
                      7q11.23 duplication syndrome 0
paths to the root