spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings
MedicalCondition developmental_defect_during_embryogenesis Q55783935
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spondyloepimetaphyseal dysplasia, aggrecan type

Summary

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

Key Facts

  • spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as developmental defect during embryogenesis[2].
  • spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as rare disease[3].
  • spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as class of disease[4].
  • spondyloepimetaphyseal dysplasia, aggrecan type is a type of aggrecan-related bone disorder[5].
  • spondyloepimetaphyseal dysplasia, aggrecan type's genetic association is recorded as ACAN[6].
  • spondyloepimetaphyseal dysplasia, aggrecan type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_171866[7].

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APA 4ort.xyz Knowledge Graph. (2026). spondyloepimetaphyseal dysplasia, aggrecan type. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-aggrecan-type
MLA “spondyloepimetaphyseal dysplasia, aggrecan type.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-aggrecan-type.
BibTeX @misc{4ortxyz_spondyloepimetaphyseal-dysplasia-aggrecan-type_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondyloepimetaphyseal dysplasia, aggrecan type}}, year = {2026}, url = {https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-aggrecan-type}, note = {Accessed: 2026-05-03}}
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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. 6d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0013014
    Genetic association ACAN
    Gard rare disease id 10513
    Orphanet id 171866
    + 10 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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