(Q7003001)

English

neutral lipid storage disease

lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues

Chanarin-Dorfman syndrome
Lipidosis with triglyceride storage disease

In more languages

Statements

0 references

class of disease

0 references

lipid storage disease

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

rare dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0050729

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050729

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_165

0 references

Commons category

Neutral lipid storage disease

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Universalis ID

syndromes-de-surcharge

0 references

GARD rare disease ID

0 references

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Medical Dictionary for Regulatory Activities ID

1 reference

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

Microsoft Academic ID

0 references

0 references

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

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

WikiProjectMed ID

Neutral lipid storage disease

0 references

Sitelinks

Wikipedia(4 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Neutral lipid storage disease

Retrieved from "https://www.wikidata.org/w/index.php?title=Q7003001&oldid=2180178832"