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De Barsy syndrome

human disease
Class type of: inborn disorder of ornithine or proline metabolism, cutis laxa, autosomal recessive disease Q3961699

Facts

9 properties
Instance of
class of disease
Subclass of
inborn disorder of ornithine or proline metabolism, cutis laxa, autosomal recessive disease
Age of onset
congenital onset, infantile onset, neonatal onset[9][10][11]
Genetic association
PYCR1, ALDH18A1[7][8]
Has phenotype
Bilateral sensorineural hearing impairment[13]
Named after
Anne-Marie de Barsy[5]
On focus list of Wikimedia project
WikiProject Medicine[12]
P14914
D02962[14]
Prevalence
+0.000001[6]
🏷️ Also known as
en autosomal recessive cutis laxa type III en De Barsy syndrome en cutis laxa-corneal clouding-intellectual disability syndrome ar متلازمة دي بارسي de De-Barsy-Syndrom de De-Barsy-Moens-Dierckx-Syndrom fr syndrome type de Barsy it sindrome di de Barsy ro Sindromul De Barsy
🔖 Identifiers · 11
Disease Ontology ID
DOID:0070143
DiseasesDB
33717
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
49
ICD-10 ID
Q87.8
ICD-11 ID (Foundation)
1718974486
MeSH descriptor ID
C535990
Microsoft Academic ID (discontinued)
2779443233
Orphanet ID
2962
UMLS CUI
C0268354
WikiProjectMed ID
De Barsy syndrome

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
cutis laxa
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Summary

De Barsy syndrome is a class of disease[1]. It is a type of inborn disorder of ornithine or proline metabolism[2], cutis laxa[3], and autosomal recessive disease[4].

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . 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). De Barsy syndrome. Retrieved November 7, 2026, from https://4ort.xyz/entity/de-barsy-syndrome
MLA “De Barsy syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Nov. 2026, https://4ort.xyz/entity/de-barsy-syndrome.
BibTeX @misc{4ortxyz_de-barsy-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{De Barsy syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/de-barsy-syndrome}, note = {Accessed: 2026-11-07}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): De Barsy syndrome — https://4ort.xyz/entity/de-barsy-syndrome (retrieved 2026-11-07)

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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.

  1. 15d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Instance of → class of disease
    Named after → —
    Genetic association → PYCR1, ALDH18A1
    Named after → Anne-Marie de Barsy
    + 10 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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