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TAR syndrome

genetic disorder
Class type of: chromosomal deletion syndrome, autosomal recessive disease, syndrome Q660330

Facts

10 properties
Instance of
rare disease, class of disease[5]
Subclass of
chromosomal deletion syndrome, autosomal recessive disease, syndrome
Age of onset
congenital onset, neonatal onset[11][12]
Genetic association
RBM8A[10]
Has phenotype
Cerebellar vermis hypoplasia, coarctation of the aorta, Ulnar bowing, eosinophilia, Wikidata item, strabismus, ptosis, Hepatosplenomegaly, cavum septum pellucidum[14][15][16][17][18][19][20][21][22]
Health specialty
medical genetics[9]
NCI Thesaurus ID
C99038[8]
On focus list of Wikimedia project
WikiProject Medicine[13]
P14914
D03320[23]
Symptoms and signs
thrombocytopenia, Radial aplasia[6][7]
🏷️ Also known as
en thrombocytopenia-absent radius syndrome en Thrombocytopenia with absent radii (TAR) syndrome en chromosome 1q21.1 deletion syndrome en Radial aplasia-thrombocytopenia syndrome en Radial Aplasia-Thrombocytopenia Syndrome en Radial aplasia-thrombocytopenia syndrome (disorder) en TAR en TAR syndrome ar متلازمة تار de TAR-Syndrom es Sindrome TAR es Síndrome TAR fr syndrome de thrombocytopénie-aplasie radiale fr syndrome TAR it Sindrome trombocitopenica con assenza di radio ja 血小板減少橈骨欠損症候群 nl TAR-syndroom pl Zespół małopłytkowości i aplazji kości promieniowej
🔖 Identifiers · 21
Disease Ontology ID
DOID:14699
DiseasesDB
29769
Exact match
purl.obolibrary.org, identifiers.org
Freebase ID
/m/01j9jz
GARD rare disease ID
5116
Genetics Home Reference Conditions ID
thrombocytopenia-absent-radius-syndrome
ICD-10 ID
Q87.2
ICD-10-CM
Q87.2
ICD-11 ID (Foundation)
433927766
ICD-9 ID
287.33
KEGG ID
H01847
MeSH descriptor ID
C536940
Show all 21 identifiers +9
Microsoft Academic ID (discontinued)
2779543667, 2909972940
Mondo ID
MONDO_0010121
OMIM ID
274000
Orphanet ID
3320
PatientsLikeMe condition ID
tar
UMLS CUI
C0175703
UniProt disease ID
DI-04993
WikiKids ID
TAR-syndroom
WikiProjectMed ID
TAR syndrome

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

🔗 Connections
Genetic association 1
RBM8A
Health specialty 1
medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
syndrome
Symptoms and signs 1
thrombocytopenia
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Summary

TAR syndrome is a rare disease[1]. It is a type of chromosomal deletion syndrome[2], autosomal recessive disease[3], and syndrome[4].

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . orpha.net. orpha.net. Provenance: wikidata.org.
  6. [7] ↑ . orpha.net. orpha.net. Provenance: wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . 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] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . 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). TAR syndrome. Retrieved November 8, 2026, from https://4ort.xyz/entity/tar-syndrome
MLA “TAR syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/tar-syndrome.
BibTeX @misc{4ortxyz_tar-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{TAR syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/tar-syndrome}, note = {Accessed: 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. 15d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Instance of → rare disease, class of disease
    Symptoms and signs → thrombocytopenia, Radial aplasia
    Health specialty → medical genetics
    Genetic association → RBM8A
    + 9 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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