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22q11 deletion syndrome

chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features
MedicalCondition rare_disease Q18554351
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Summary

22q11 deletion syndrome is a rare disease[1].

Key Facts

  • 22q11 deletion syndrome's instance of is recorded as rare disease[2].
  • 22q11 deletion syndrome's instance of is recorded as class of disease[3].
  • 22q11 deletion syndrome's subclass of is recorded as chromosomal deletion syndrome[4].
  • 22q11 deletion syndrome's said to be the same as is recorded as DiGeorge syndrome[5].
  • 22q11 deletion syndrome's MeSH descriptor ID is recorded as D058165[6].
  • 22q11 deletion syndrome's OMIM ID is recorded as 192430[7].
  • 22q11 deletion syndrome's KEGG ID is recorded as H01004[8].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C05.660.207.103[9].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C14.240.400.021[10].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C14.280.400.044[11].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C15.604.451.249[12].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.131.077.019[13].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.131.240.400.021[14].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.131.260.019[15].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.131.482.249[16].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.131.621.207.103[17].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C16.320.180.019[18].
  • 22q11 deletion syndrome's MeSH tree code is recorded as C19.642.482.500[19].
  • 22q11 deletion syndrome's Disease Ontology ID is recorded as DOID:12583[20].
  • 22q11 deletion syndrome's Orphanet ID is recorded as 567[21].
  • 22q11 deletion syndrome's ICD-9-CM is recorded as 758.32[22].
  • 22q11 deletion syndrome's health specialty is recorded as medical genetics[23].
  • 22q11 deletion syndrome's genetic association is recorded as TBX1[24].
  • 22q11 deletion syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_12583[25].
  • 22q11 deletion syndrome's exact match is recorded as http://identifiers.org/doid/DOID:12583[26].

References

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

Direct Wikidata claims

  1. [2] ↑ . Orphanet Rare Disease Ontology. wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  20. [21] ↑ . Orphanet Rare Disease Ontology. wikidata.org.
  21. [22] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.
  23. [24] ↑ . Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. wikidata.org.
  24. [25] ↑ . Disease Ontology. Retrieved . wikidata.org.
  25. [26] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). 22q11 deletion syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/22q11-deletion-syndrome
MLA “22q11 deletion syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/22q11-deletion-syndrome.
BibTeX @misc{4ortxyz_22q11-deletion-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{22q11 deletion syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/22q11-deletion-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): 22q11 deletion syndrome — https://4ort.xyz/entity/22q11-deletion-syndrome (retrieved 2026-05-03)

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