lysosomal and lipase deficiency

lipid storage disease characterized by lysosomal and lipase deficiency

Class type of: lipid storage disease Q53660462

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Summary

lysosomal and lipase deficiency is a class of disease^[1]. It is a type of lipid storage disease^[2].

Key Facts

Prevalence: 0.00005^[3]
Genetic association: LIPA^[4]
Age of onset: juvenile onset^[5], adult onset^[6], childhood onset^[7], infantile onset^[8], neonatal onset^[9]
On focus list of Wikimedia project: WikiProject Medicine^[10]
Has phenotype: Wikidata item^[11], Wikidata item^[12], hypovolemia^[13]
P14914: D275761^[14]

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Quick Facts

Instance of class of disease

Subclass of lipid storage disease

Properties

Age of onset juvenile onset, adult onset, childhood onset, infantile onset, neonatal onset

Genetic association LIPA

Has phenotype Wikidata item, Wikidata item, hypovolemia

On focus list of wikimedia project WikiProject Medicine

P14914 D275761

Prevalence +0.00005

Identifiers (9)

Disease ontology id DOID:0080217

Exact match purl.obolibrary.org, identifiers.org

Gard rare disease id 12097

Genetics home reference conditions id lysosomal-acid-lipase-deficiency

Google knowledge graph id /g/11bc64w01x

Kegg id H00148

Omim id 278000

Orphanet id 275761

Umls cui C5574740

🌐 Available in 2 languages

deLysosomale saure Lipase-Defizienz plDeficyt lizosomalnej kwaśnej lipazy

🏷️ Also known as

en lysosomal and lipase deficiency de Lysosomale saure Lipase-Defizienz fr déficit en lipase acide lysosomale pl Deficyt lizosomalnej kwaśnej lipazy

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

[2] ↑ lysosomal and lipase deficiency — subclass of (P279): lipid storage disease. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[3] ↑ lysosomal and lipase deficiency — prevalence (P1193): 0.00005. Retrieved 2026-10-23. wikidata.org.
[4] ↑ lysosomal and lipase deficiency — genetic association (P2293): LIPA. Retrieved 2026-10-23. wikidata.org.
[5] ↑ lysosomal and lipase deficiency — age of onset (P2841): juvenile onset. Retrieved 2026-10-23. wikidata.org.
[6] ↑ lysosomal and lipase deficiency — age of onset (P2841): adult onset. Retrieved 2026-10-23. wikidata.org.
[7] ↑ lysosomal and lipase deficiency — age of onset (P2841): childhood onset. Retrieved 2026-10-23. wikidata.org.
[8] ↑ lysosomal and lipase deficiency — age of onset (P2841): infantile onset. Retrieved 2026-10-23. wikidata.org.
[9] ↑ lysosomal and lipase deficiency — age of onset (P2841): neonatal onset. Retrieved 2026-10-23. wikidata.org.
[10] ↑ lysosomal and lipase deficiency — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[11] ↑ lysosomal and lipase deficiency — has phenotype (P6532): Q141815597. Retrieved 2026-10-23. wikidata.org.
[12] ↑ lysosomal and lipase deficiency — has phenotype (P6532): Q141815355. Retrieved 2026-10-23. wikidata.org.
[13] ↑ lysosomal and lipase deficiency — has phenotype (P6532): hypovolemia. Retrieved 2026-10-23. wikidata.org.
[14] ↑ lysosomal and lipase deficiency — P14914 (P14914): D275761. wikidata.org.

Class ancestry

[1] ↑ lysosomal and lipase deficiency is an instance of class of disease (Q112193867) [P31, primary]. Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA

4ort.xyz Knowledge Graph. (2026). lysosomal and lipase deficiency. Retrieved October 30, 2026, from https://4ort.xyz/entity/lysosomal-and-lipase-deficiency

MLA

“lysosomal and lipase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 30 Oct. 2026, https://4ort.xyz/entity/lysosomal-and-lipase-deficiency.

BibTeX

@misc{4ortxyz_lysosomal-and-lipase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{lysosomal and lipase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/lysosomal-and-lipase-deficiency}, note = {Accessed: 2026-10-30}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): lysosomal and lipase deficiency — https://4ort.xyz/entity/lysosomal-and-lipase-deficiency (retrieved 2026-10-30)

Canonical URL: https://4ort.xyz/entity/lysosomal-and-lipase-deficiency · Last refreshed: October 30, 2026

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

8d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗

Instance of → class of disease

Gard rare disease id → 12097

Exact match → http://purl.obolibrary.org/obo/DOID_0080217, http://identifiers.org/doid/DOID:0080217

Imported from → —

+ 18 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"

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