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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
 primary_id: MESH:D018980
 alt_id: OMIM:194050
 xref: ICD10CM:Q93.82;   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 NCBI chr12:24,722,277...24,725,760
Ensembl chr12:24,722,283...24,724,997
JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,721,190...24,722,177 JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:16448863 NCBI chr12:24,478,882...24,536,851
Ensembl chr12:24,478,898...24,537,313
JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,543,748...24,557,093
Ensembl chr12:24,543,759...24,556,976
JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,669,626...24,680,833
Ensembl chr12:24,669,449...24,680,818
JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,831,341...21,832,813
Ensembl chr12:21,831,342...21,832,813
JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO
ISS
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
ClinVar
MouseDO
PMID:12195424 RGD:734863 NCBI chr12:25,172,957...25,236,935
Ensembl chr12:25,173,005...25,237,009
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20952458 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,668,398...24,669,464
Ensembl chr12:24,668,398...24,669,464
JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO
ISS
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
ClinVar
MouseDO
PMID:8812460 RGD:1580597 NCBI chr12:25,093,119...25,109,805
Ensembl chr12:25,093,149...25,109,799
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Williams syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:7545578, PMID:10533027 RGD:7207897, RGD:9585755 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:9782077 RGD:1582483 NCBI chr12:24,365,941...24,438,088
Ensembl chr12:24,367,199...24,438,019
JBrowse link
G Fzd3 frizzled class receptor 3 ISO RGD PMID:9147651 RGD:1582654 NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
JBrowse link
G Fzd9 frizzled class receptor 9 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
NCBI chr12:24,473,981...24,476,295
Ensembl chr12:24,473,981...24,476,295
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:20007321 PMID:21328569 NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:20007321 NCBI chr12:25,264,052...25,370,947
Ensembl chr12:25,264,192...25,371,001
JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:11003705 RGD:1549872 NCBI chr12:25,114,099...25,128,381
Ensembl chr12:25,119,355...25,125,749
JBrowse link
G Limk1 LIM domain kinase 1 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
NCBI chr12:25,036,630...25,070,538
Ensembl chr12:25,036,605...25,070,539
JBrowse link
G Lox lysyl oxidase ISS OMIM:194050 MouseDO NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,767,351...24,775,891
Ensembl chr12:24,767,351...24,775,891
JBrowse link
G Mlxipl MLX interacting protein-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
NCBI chr12:24,590,645...24,619,639 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO RGD PMID:16532385 RGD:1624399 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,341,940...24,346,900
Ensembl chr12:24,341,928...24,346,918
JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr12:25,561,871...25,592,337
Ensembl chr12:25,561,777...25,592,342
JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:25,130,375...25,143,480
Ensembl chr12:25,130,377...25,143,480
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISS OMIM:194050 MouseDO NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,565,843...24,578,855
Ensembl chr12:24,565,849...24,578,786
JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,803,204...24,808,287
Ensembl chr12:24,803,686...24,808,288
JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,348,426...24,365,467
Ensembl chr12:24,348,321...24,365,324
JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:24,651,342...24,656,793
Ensembl chr12:24,651,314...24,656,793
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      chromosomal deletion syndrome 875
        Williams-Beuren syndrome 32
          Williams-Beuren Region Duplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    Williams-Beuren syndrome 32
                      Williams-Beuren Region Duplication Syndrome 0
paths to the root