SHORT syndrome

medical condition
MedicalCondition developmental_defect_during_embryogenesis Q7390227
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SHORT syndrome

Summary

SHORT syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • SHORT syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • SHORT syndrome's instance of is recorded as rare disease[3].
  • SHORT syndrome's instance of is recorded as class of disease[4].
  • SHORT syndrome is a type of short stature[5].
  • SHORT syndrome is a type of genetic lipodystrophy[6].
  • SHORT syndrome is a type of syndromic glaucoma[7].
  • SHORT syndrome is a type of syndromic hyperopia[8].
  • SHORT syndrome is a type of syndromic developmental defect of the eye[9].
  • SHORT syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[10].
  • SHORT syndrome is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[11].
  • SHORT syndrome is a type of developmental anomaly of metabolic origin[12].
  • SHORT syndrome is a type of malformation syndrome with short stature[13].
  • SHORT syndrome is a type of progeroid syndrome[14].
  • SHORT syndrome is a type of insulin resistance[15].
  • SHORT syndrome is a type of rare genetic diabetes mellitus[16].
  • SHORT syndrome is a type of syndrome[17].
  • SHORT syndrome is a type of autosomal dominant disease[18].
  • SHORT syndrome's health specialty is recorded as academic discipline[19].
  • SHORT syndrome's genetic association is recorded as PIK3R1[20].
  • SHORT syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3163[21].
  • SHORT syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111454[22].
  • SHORT syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111454[23].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [23] ↑ . Identifiers.org. registry.identifiers.org. Provenance: 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). SHORT syndrome. Retrieved October 5, 2026, from https://4ort.xyz/entity/short-syndrome
MLA “SHORT syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Oct. 2026, https://4ort.xyz/entity/short-syndrome.
BibTeX @misc{4ortxyz_short-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{SHORT syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/short-syndrome}, note = {Accessed: 2026-10-05}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): SHORT syndrome — https://4ort.xyz/entity/short-syndrome (retrieved 2026-10-05)

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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. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0010026
    Orphanet id → 3163
    Imported from → —
    Mesh descriptor id → C537327
    + 17 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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