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
Accession: DOID:1928
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Lox
lysyl oxidase
ISS
OMIM:194050
MouseDO
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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