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VACTERL association

syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities
Class type of: syndrome, syndromic renal or urinary tract malformation, syndromic esophageal malformation Q1755537

Facts

9 properties
Instance of
designated intractable/rare disease, rare disease, class of disease[2][3]
Subclass of
syndrome, syndromic renal or urinary tract malformation, syndromic esophageal malformation, syndromic anorectal malformation, multiple congenital anomalies/dysmorphic syndrome without intellectual disability, developmental defect during embryogenesis[4][5][6][7][8][9]
Age of onset
congenital onset, neonatal onset[16][17]
Genetic association
HOXD13, PTEN, ZIC3[13][14][15]
Health specialty
medical genetics[12]
ICD-9-CM
759.89[10]
NCI Thesaurus ID
C99105[11]
On focus list of Wikimedia project
WikiProject Medicine[18]
P14914
D00887[19]
🏷️ Also known as
en VATER/VACTERL ASSOCIATION en Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome en VACTERL association en VACTERL/VATER association en vater ASSOCIATION en vater association (disorder) en vater association [dup] (disorder) en VATER syndrome ar متلازمة فاكترل de VACTERL-Assoziation es Sindrome de VACTERL es Síndrome de VACTERL fi VATER-assosiaatio fr syndrome de VACTERL fr association VACTERL he תסמונת VACTERL id Asosiasi VACTERL it sindrome di VATER ja VACTERL連合 pl Asocjacja VACTERL
🔖 Identifiers · 17
Disease Ontology ID
DOID:14679
DiseasesDB
13779
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/07z84b
GARD rare disease ID
5443
Genetics Home Reference Conditions ID
vacterl-association
ICD-10-CM
Q87.2
KEGG ID
H01195
MeSH descriptor ID
C536534, C536495
Microsoft Academic ID (discontinued)
2775954862
Mondo ID
MONDO_0008642
Show all 17 identifiers +5
OMIM ID
276950, 192350
Orphanet ID
887
UMLS CUI
C1735591, C0220708, C4225671
UniProt disease ID
DI-02577
WikiProjectMed ID
VACTERL association

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🔗 Connections
Subclass of 2
disease, syndrome
Genetic association 1
HOXD13
Health specialty 1
medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
← Genetic association 1
HOXD13
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Summary

VACTERL association is a designated intractable/rare disease[1].

Related Entities

disease

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . UniProt. Retrieved . wikidata.org.
  13. [14] ↑ . A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . 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). VACTERL association. Retrieved November 2, 2026, from https://4ort.xyz/entity/vacterl-association
MLA “VACTERL association.” 4ort.xyz Knowledge Graph, 4ort.xyz, 2 Nov. 2026, https://4ort.xyz/entity/vacterl-association.
BibTeX @misc{4ortxyz_vacterl-association_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{VACTERL association}}, year = {2026}, url = {https://4ort.xyz/entity/vacterl-association}, note = {Accessed: 2026-11-02}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): VACTERL association — https://4ort.xyz/entity/vacterl-association (retrieved 2026-11-02)

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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. 13d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Genetic association → HOXD13, PTEN, ZIC3
    Sitelink count → 16
    Wikipedia languages → ['ar', 'commons', 'de', 'en', 'es', 'eu', 'fi', 'fr', 'he', 'id', 'it', 'pl', 'p
    Age of onset → congenital onset, neonatal onset
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 17w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → syndrome, syndromic renal or urinary tract malformation, syndromic esophageal malformation +3
    Instance of → designated intractable/rare disease, rare disease, class of disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
  3. 17w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty → medical genetics
    Genetic association → HOXD13, PTEN, ZIC3
    Subclass of → —
    Instance of → designated intractable/rare disease, rare disease, class of disease
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.