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spondyloepiphyseal dysplasia, Stanescu type

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55784940
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spondyloepiphyseal dysplasia, Stanescu type

Summary

spondyloepiphyseal dysplasia, Stanescu type is a developmental defect during embryogenesis[1].

Key Facts

  • spondyloepiphyseal dysplasia, Stanescu type's instance of is recorded as developmental defect during embryogenesis[2].
  • spondyloepiphyseal dysplasia, Stanescu type's instance of is recorded as rare disease[3].
  • spondyloepiphyseal dysplasia, Stanescu type's instance of is recorded as class of disease[4].
  • spondyloepiphyseal dysplasia, Stanescu type is a type of type 2 collagen-related bone disorder[5].
  • spondyloepiphyseal dysplasia, Stanescu type is a type of spondyloepiphyseal dysplasia with congenital joint dislocations[6].
  • spondyloepiphyseal dysplasia, Stanescu type's genetic association is recorded as COL2A1[7].
  • spondyloepiphyseal dysplasia, Stanescu type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_459051[8].

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). spondyloepiphyseal dysplasia, Stanescu type. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-stanescu-type
MLA “spondyloepiphyseal dysplasia, Stanescu type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-stanescu-type.
BibTeX @misc{4ortxyz_spondyloepiphyseal-dysplasia-stanescu-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondyloepiphyseal dysplasia, Stanescu type}}, year = {2026}, url = {https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-stanescu-type}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spondyloepiphyseal dysplasia, Stanescu type — https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-stanescu-type (retrieved 2026-05-03)

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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. 3d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0014701
    Genetic association → COL2A1
    Orphanet id → 459051
    Instance of → developmental defect during embryogenesis, rare disease, class of disease
    + 8 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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