sitosterolemia (Q1336034)

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rare autosomal recessively inherited lipid metabolic disorder

phytosterolemia
SITOSTEROLEMIA
Stsl
Plant sterol storage disease
Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
Macrothrombocytopenia/Stomatocytosis, Mediterranean

Language	Label	Description	Also known as
English	sitosterolemia	rare autosomal recessively inherited lipid metabolic disorder	phytosterolemia SITOSTEROLEMIA Stsl Plant sterol storage disease Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body Macrothrombocytopenia/Stomatocytosis, Mediterranean

Statements

designated intractable/rare disease

1 reference

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

17 May 2019

0 references

class of disease

0 references

inborn error of lipid metabolism

0 references

intestinal disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

syndromic dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

0 references

genetic association

5 references

UniProt protein ID

13 August 2019

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

18 January 2021

https://search.clinicalgenome.org/kb/gene-validity/af59edc2-1148-4dca-b804-192639017b65--2020-07-14T20:28:06

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000143921/MONDO_0008863

based on heuristic

inferred from an Open Targets association score over 0.7

5 references

UniProt protein ID

13 August 2019

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

18 January 2021

https://search.clinicalgenome.org/kb/gene-validity/c52c7403-8975-4a3f-8796-a966e977f708--2020-07-10T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000138075/MONDO_0008863

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4856

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

C125694

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_0090019

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0090019

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_101022

0 references

http://www.orpha.net/ORDO/Orphanet_2882

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

28 August 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 ID (Foundation)

0 references

Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(7 entries)

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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