spondyloepimetaphyseal dysplasia, Shohat type

MedicalCondition developmental_defect_during_embryogenesis Q55783282
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spondyloepimetaphyseal dysplasia, Shohat type

Summary

spondyloepimetaphyseal dysplasia, Shohat type is a developmental defect during embryogenesis[1].

Key Facts

  • spondyloepimetaphyseal dysplasia, Shohat type's instance of is recorded as developmental defect during embryogenesis[2].
  • spondyloepimetaphyseal dysplasia, Shohat type's instance of is recorded as class of disease[3].
  • spondyloepimetaphyseal dysplasia, Shohat type's genetic association is recorded as DDRGK1[4].
  • spondyloepimetaphyseal dysplasia, Shohat type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93352[5].

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APA 4ort.xyz Knowledge Graph. (2026). spondyloepimetaphyseal dysplasia, Shohat type. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-shohat-type
MLA “spondyloepimetaphyseal dysplasia, Shohat type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-shohat-type.
BibTeX @misc{4ortxyz_spondyloepimetaphyseal-dysplasia-shohat-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondyloepimetaphyseal dysplasia, Shohat type}}, year = {2026}, url = {https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-shohat-type}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spondyloepimetaphyseal dysplasia, Shohat type — https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-shohat-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. 8d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0011252
    Genetic association DDRGK1
    Gard rare disease id 4980
    Orphanet id 93352
    + 9 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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