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Dubowitz syndrome

genetic disorder
Class type of: syndrome, genetic syndromic intellectual disability, ptosis Q574741

Facts

11 properties
Instance of
class of disease
Subclass of
syndrome, genetic syndromic intellectual disability, ptosis, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, autosomal recessive disease, developmental defect during embryogenesis[7][8][9]
Age of onset
congenital onset, neonatal onset[16][17]
Genetic association
LIG4, NSUN2[14][15]
Has phenotype
retrognathism, microcephaly, triangular face, global developmental delay, hypocholesterolemia, Infantile onset[19][20][21][22][23][24]
Health specialty
medical genetics[13]
ICD-9-CM
742.8[11]
NCI Thesaurus ID
C125591[12]
Named after
Victor Dubowitz[6]
On focus list of Wikimedia project
WikiProject Medicine[18]
Symptoms and signs
ptosis[10]
🏷️ Also known as
en Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci en DUBOWITZ SYNDROME en Dwarfism-eczema-peculiar facies syndrome en Dubowitz's syndrome en Dubowitz's syndrome (disorder) en Dubowitz syndrome ar متلازمة دوبويتز de Dubowitz-Syndrom es Sindrome de Dubowitz es Síndrome de Dubowitz fa سندرم دوبوویتز fi Dubowitzin oireyhtymä fi Dubowitzin syndrooma fr syndrome de Dubowitz it sindrome di Dubowitz pl Zespół Dubowitza tr Dubowitz sendromu
🔖 Identifiers · 15
Disease Ontology ID
DOID:14796
DiseasesDB
32652
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/02qx8yn
GARD rare disease ID
6290
ICD-10-CM
Q87.1
ICD-11 ID (Foundation)
758537040
MeSH descriptor ID
C535718
Microsoft Academic ID (discontinued)
2776936874
Mondo ID
MONDO_0009124
OMIM ID
223370
Orphanet ID
235
Show all 15 identifiers +3
Raras disease ID
D00235
UMLS CUI
C0175691
WikiProjectMed ID
Dubowitz syndrome

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

🔗 Connections
Has phenotype 2
microcephaly, retrognathism
Subclass of 2
syndrome, ptosis
Health specialty 1
medical genetics
On focus list of Wikimedia project 1
WikiProject Medicine
Symptoms and signs 1
ptosis
← FactGrid item ID 1
Bieńkowice
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Summary

Dubowitz syndrome is a class of disease[1]. It is a type of syndrome[2], genetic syndromic intellectual disability[3], ptosis[4], and multiple congenital anomalies/dysmorphic syndrome-intellectual disability[5].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.
  23. [24] ↑ . Retrieved . 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). Dubowitz syndrome. Retrieved November 8, 2026, from https://4ort.xyz/entity/dubowitz-syndrome
MLA “Dubowitz syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/dubowitz-syndrome.
BibTeX @misc{4ortxyz_dubowitz-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Dubowitz syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/dubowitz-syndrome}, note = {Accessed: 2026-11-08}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Dubowitz syndrome — https://4ort.xyz/entity/dubowitz-syndrome (retrieved 2026-11-08)

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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. 19d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Genetic association → LIG4, NSUN2
    Age of onset → congenital onset, neonatal onset
    Has phenotype → retrognathism, microcephaly, triangular face +1
    Raras disease ID → D00235
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty → medical genetics
    Has phenotype → retrognathism, microcephaly, triangular face +1
    Instance of → class of disease
    Named after → Victor Dubowitz
    + 3 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39742: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.