cerebrotendinous xanthomatosis (Q2602467)

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autosomal recessive form of xanthomatosis.

Van Bogaert–Scherer–Epstein syndrome
Cholestanol storage disease (disorder)
Cholestanol storage disease
CEREBROTENDINOUS XANTHOMATOSIS
CEREBROTENDINOUS XANTHOMATOSIS; CTX
CTX
Sterol 27-hydroxylase deficiency
Cerebral Cholesterinosis
Xanthomatosis, Cerebrotendinous

Language	Label	Description	Also known as
English	cerebrotendinous xanthomatosis	autosomal recessive form of xanthomatosis.	Van Bogaert–Scherer–Epstein syndrome Cholestanol storage disease (disorder) Cholestanol storage disease CEREBROTENDINOUS XANTHOMATOSIS CEREBROTENDINOUS XANTHOMATOSIS; CTX CTX Sterol 27-hydroxylase deficiency Cerebral Cholesterinosis Xanthomatosis, Cerebrotendinous

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

designated intractable/rare disease

1 reference

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

17 May 2019

0 references

class of disease

0 references

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal recessive metabolic cerebellar ataxia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

subcutaneous tissue disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare hereditary metabolic disease with peripheral neuropathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

cerebral lipidosis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

metabolic disease with cataract

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

sterol metabolism disorder with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

developmental anomaly of metabolic origin

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

bile acid synthesis defect with cholestasis and malabsorption

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic subcutaneous tissue disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

health specialty

medical genetics

0 references

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000135929/MONDO_0008948

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4618

language of work or name

1 reference

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

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C84628

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_4810

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:4810

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_909

0 references

Identifiers

MeSH descriptor ID

mapping relation type

subject named as

Xanthomatosis, Cerebrotendinous

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

C16.320.565.398.925

0 references

C18.452.584.750.975

0 references

C18.452.648.398.925

0 references

C18.452.584.563.925

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Cerebrotendineous_xanthomatosis&oldid=892872852

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

JSTOR topic ID (archived)

cerebrotendinous-xanthomatosis

0 references

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

26 January 2022

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Cerebrotendineous xanthomatosis

0 references

Sitelinks

Wikipedia(14 entries)

arwiki داء الأورام الصفر المنتشرة الدماغية الوترية
dewiki Cerebrotendinöse Xanthomatose
enwiki Cerebrotendinous xanthomatosis
eswiki Xantomatosis cerebrotendinosa
fiwiki Aivo-jänneksantomatoosi
frwiki Xanthomatose cérébrotendineuse
glwiki Xantomatose cerebrotendinosa
hewiki צרברוטנדינוס קסנטומטוזיס
itwiki Xantomatosi cerebrotendinea
nlwiki Cerebrotendineuze xanthomatose
plwiki Ksantomatoza mózgowo-ścięgnista
ptwiki Xantomatose cerebrotendinosa
ruwiki Синдром ван Богарта — Шерера — Эпштейна
zhwiki 腦腱性黃瘤症

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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