spondyloepiphyseal dysplasia with congenital joint dislocations

spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints
MedicalCondition developmental_defect_during_embryogenesis Q18553493
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spondyloepiphyseal dysplasia with congenital joint dislocations

Summary

spondyloepiphyseal dysplasia with congenital joint dislocations is a developmental defect during embryogenesis[1].

Key Facts

  • spondyloepiphyseal dysplasia with congenital joint dislocations's instance of is recorded as developmental defect during embryogenesis[2].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's instance of is recorded as rare disease[3].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's instance of is recorded as class of disease[4].
  • spondyloepiphyseal dysplasia with congenital joint dislocations is a type of spondyloepimetaphyseal dysplasia[5].
  • spondyloepiphyseal dysplasia with congenital joint dislocations is a type of congenital disorder of glycosylation-related bone disorder[6].
  • spondyloepiphyseal dysplasia with congenital joint dislocations is a type of primary bone dysplasia with multiple joint dislocations[7].
  • spondyloepiphyseal dysplasia with congenital joint dislocations is a type of disorder of O-xylosylglycan synthesis[8].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's ICD-9-CM is recorded as 756.9[9].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's genetic association is recorded as CHST3[10].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050813[11].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's exact match is recorded as http://identifiers.org/doid/DOID:0050813[12].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_263463[13].
  • spondyloepiphyseal dysplasia with congenital joint dislocations's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].

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] . Disease Ontology. 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] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . 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). spondyloepiphyseal dysplasia with congenital joint dislocations. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations
MLA “spondyloepiphyseal dysplasia with congenital joint dislocations.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations.
BibTeX @misc{4ortxyz_spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondyloepiphyseal dysplasia with congenital joint dislocations}}, year = {2026}, url = {https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spondyloepiphyseal dysplasia with congenital joint dislocations — https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations · Last refreshed:

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. 29d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0007738
    Orphanet id 263463, 1792
    Imported from
    Mesh descriptor id C537283
    + 14 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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