Williams-Beuren syndrome (Q558077)

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neurodevelopmental disorder

• Fanconi Schlesinger syndrome
• Williams–Beuren syndrome, WBS
• Williams Syndrome
• WS
• Chromosome 7Q11.23 Deletion Syndrome, 1.5- to 1.8-Mb
• Monosomy 7q11.23
• WILLIAMS-BEUREN SYNDROME; WBS
• WBS
• Williams-Beuren Syndrome (WBS)
• WILLIAMS-BEUREN SYNDROME
• Deletion 7q11.23
• Williams syndrome

edit

Language	Label	Description	Also known as
English	Williams-Beuren syndrome	neurodevelopmental disorder	Fanconi Schlesinger syndrome Williams–Beuren syndrome, WBS Williams Syndrome WS Chromosome 7Q11.23 Deletion Syndrome, 1.5- to 1.8-Mb Monosomy 7q11.23 WILLIAMS-BEUREN SYNDROME; WBS WBS Williams-Beuren Syndrome (WBS) WILLIAMS-BEUREN SYNDROME Deletion 7q11.23 Williams syndrome

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

rare disease

0 references

designated intractable/rare disease

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

class of disease

0 references

subclass of

chromosomal deletion syndrome

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:1928

supravalvular aortic stenosis

1 reference

stated in

Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis

syndromic developmental defect of the eye

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

malformation syndrome with short stature

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

genetic hypertension

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

partial deletion of the long arm of chromosome 7

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

rare syndrome with cardiac malformations

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

rare abdominal surgical disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

genetic syndromic intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

organic brain syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

syndromic epicanthus

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

motor stereotypies

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

syndrome

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:1928

autosomal dominant disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:1928

disease

0 references

image

Williams syndromeCCBY.jpg
568 × 433; 56 KB

0 references

named after

John Cyprian Phipps Williams

0 references

discoverer or inventor

John Cyprian Phipps Williams

0 references

health specialty

medical genetics

0 references

pediatrics

0 references

symptoms and signs

supravalvular aortic stenosis

0 references

external data available at URL

http://www.nanbyou.or.jp/entry/4765

language of work or name

Japanese

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

759.89

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

NCI Thesaurus ID

C85232

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1928

exact match

http://purl.obolibrary.org/obo/DOID_1928

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:1928

http://identifiers.org/doid/DOID:1928

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_904

0 references

Commons category

Williams syndrome

0 references

Identifiers

Bibliothèque nationale de France ID

13540439d

subject named as

Williams et Beuren, Syndrome de

1 reference

stated in

Nuovo soggettario

reference URL

https://thes.bncf.firenze.sbn.it/termine.php?id=5062

retrieved

13 June 2021

GND ID

4323165-2

1 reference

imported from Wikimedia project

German Wikipedia

National Library of Israel J9U ID

987007532654405171

1 reference

stated in

National Library of Israel

Library of Congress authority ID

sh98004230

subject named as

Williams syndrome

1 reference

stated in

Nuovo soggettario

reference URL

https://thes.bncf.firenze.sbn.it/termine.php?id=5062

retrieved

13 June 2021

sh98004230

0 references

NDL Authority ID

01196757

subject named as

ウィリアムズ症候群

0 references

NL CR AUT ID

ph637817

subject named as

Williamsův syndrom

0 references

MeSH descriptor ID

D018980

mapping relation type

exact match

subject named as

Williams Syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

MeSH tree code

C10.597.606.360.970

0 references

C14.280.484.150.535.960

0 references

C16.131.260.970

0 references

C16.320.180.970

0 references

MedlinePlus ID

001116

1 reference

imported from Wikimedia project

English Wikipedia

PatientsLikeMe condition ID

williams-syndrome

0 references

KEGG ID

H01439

0 references

BBC Things ID

9a0a1967-183c-411a-9b45-b8bddb482854

1 reference

stated in

BBC Things

BNCF Thesaurus ID

5062

1 reference

stated in

National Central Library of Florence

Den Store Danske ID

Williams_syndrom

0 references

Disease Ontology ID

DOID:1928

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:1928

DiseasesDB

859

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Williams_syndrome&oldid=952210248

eMedicine ID

893149

1 reference

imported from Wikimedia project

English Wikipedia

Facebook username

Williams.Syndrome.Israel

language of work or name

Hebrew

0 references

Freebase ID

/m/01dwrw

1 reference

stated in

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

7891

0 references

Genetics Home Reference Conditions ID

williams-syndrome

0 references

GSSO ID

006997

0 references

ICD-10

Q93.8

1 reference

imported from Wikimedia project

English Wikipedia

ICD-10-CM

Q87.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

ICD-11 (foundation)

1644383468

0 references

ICD-9 ID

758.9

1 reference

imported from Wikimedia project

English Wikipedia

JSTOR topic ID

williams-syndrome

0 references

KBpedia ID

WilliamsSyndrome

1 reference

stated in

KBpedia

retrieved

9 July 2020

Microsoft Academic ID

2781240822

0 references

2908753905

0 references

Mondo ID

MONDO_0008678

0 references

Namuwiki ID

윌리엄스 증후군

0 references

OMIM ID

194050

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1928

OpenAlex ID

C2781240822

1 reference

stated in

OpenAlex

retrieved

26 January 2022

reference URL

https://docs.openalex.org/download-snapshot/snapshot-data-format

Orphanet ID

904

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008678

Quora topic ID

Williams-Beuren-Syndrome

1 reference

stated in

Quora

UK Parliament thesaurus ID

434614

subject named as

Williams syndrome

0 references

UMLS CUI

C0175702

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1928

WikiProjectMed ID

Williams syndrome

0 references

YSO ID

38846

subject named as

Williamsin oireyhtymä

Williams syndrom

Williams syndrome

1 reference

stated in

YSO-Wikidata mapping project

retrieved

9 February 2022

 

Sitelinks

Wikipedia(43 entries)

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• arwiki متلازمة ويليام
• azwiki Vilyams sindromu
• bswiki Williamsov sindrom
• cawiki Síndrome de Williams
• cswiki Williamsův syndrom
• cywiki Syndrom Williams
• dawiki Williams syndrom
• dewiki Williams-Beuren-Syndrom
• elwiki Σύνδρομο Ουίλιαμς
• enwiki Williams syndrome
• eowiki Sindromo de Williams
• eswiki Síndrome de Williams
• etwiki Williamsi sündroom
• fawiki نشانگان ویلیامز
• fiwiki Williamsin oireyhtymä
• frwiki Syndrome de Williams
• hewiki תסמונת ויליאמס
• huwiki Williams-szindróma
• hywiki Ուիլյամսի համախտանիշ
• idwiki Sindrom Williams
• iswiki Williams-heilkenni
• itwiki Sindrome di Williams-Beuren
• jawiki ウィリアムズ症候群
• kawiki ვილიამსის სინდრომი
• ltwiki Viljamso sindromas
• mkwiki Вилијамсов синдром
• mswiki Sindrom Williams
• nlwiki Syndroom van Williams
• nowiki Williams syndrom
• orwiki ଉଇଲିଅମସ ସିଣ୍ଡ୍ରୋମ
• plwiki Zespół Williamsa
• ptwiki Síndrome de Williams
• ruwiki Синдром Вильямса
• simplewiki Williams syndrome
• srwiki Вилијамсов синдром
• svwiki Williams syndrom
• tawiki வில்லியம்ஸ் நோய்க்கூட்டறிகுறி
• thwiki กลุ่มอาการวิลเลียม
• trwiki Williams sendromu
• ukwiki Синдром Вільямса
• viwiki Hội chứng Williams
• zh_yuewiki 威廉氏綜合症
• zhwiki 威廉氏症候群

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(1 entry)

edit

• commonswiki Category:Williams syndrome

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