Cohen syndrome

a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity
MedicalCondition developmental_defect_during_embryogenesis Q1107087
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Cohen syndrome

Summary

Cohen syndrome is a developmental defect during embryogenesis[1]. It draws 149 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #74 of 308).[2]

Key Facts

  • Cohen syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Cohen syndrome's instance of is recorded as rare disease[4].
  • Cohen syndrome's instance of is recorded as class of disease[5].
  • Cohen syndrome is a type of syndromic intellectual disability[6].
  • Cohen syndrome is a type of constitutional neutropenia with extra-hematopoietic manifestations[7].
  • Cohen syndrome is a type of syndromic retinitis pigmentosa[8].
  • Cohen syndrome is a type of syndromic myopia[9].
  • Cohen syndrome is a type of syndromic obesity[10].
  • Cohen syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[11].
  • Cohen syndrome is a type of genetic syndromic intellectual disability[12].
  • Cohen syndrome's ICD-9-CM is recorded as 759.89[13].
  • Cohen syndrome's genetic association is recorded as VPS13B[14].
  • Cohen syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_193[15].

Why It Matters

Cohen syndrome draws 149 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #74 of 308).[2] It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[16] It is known by 16 alternative names across languages and contexts.[17]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  13. [15] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [16] . Wikidata sitelinks. wikidata.org.
  3. [17] . Wikidata aliases. 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). Cohen syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cohen-syndrome
MLA “Cohen syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cohen-syndrome.
BibTeX @misc{4ortxyz_cohen-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Cohen syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cohen-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Cohen syndrome — https://4ort.xyz/entity/cohen-syndrome (retrieved 2026-05-03)

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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. 20d ago · Twofivesixbot bot · 2026-05-17 view diff on Wikidata ↗
    Aliases
    Subclass of
    Subclass of syndromic intellectual disability, constitutional neutropenia with extra-hematopoietic manifestations, syndromic retinitis pigmentosa +4
    Instance of developmental defect during embryogenesis, rare disease, class of disease
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|7 */ [[Property:P2347]]: 5777, mv to monolingual text names on YSO statements"
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