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spondylometaphyseal dysplasia

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life
MedicalCondition hereditary_disorder Q19309317
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spondylometaphyseal dysplasia

Summary

spondylometaphyseal dysplasia is a hereditary disorder[1].

Key Facts

  • spondylometaphyseal dysplasia's instance of is recorded as hereditary disorder[2].
  • spondylometaphyseal dysplasia's instance of is recorded as developmental defect during embryogenesis[3].
  • spondylometaphyseal dysplasia's instance of is recorded as class of disease[4].
  • spondylometaphyseal dysplasia is a type of primary bone dysplasia[5].
  • spondylometaphyseal dysplasia's genetic association is recorded as COL2A1[6].
  • spondylometaphyseal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_254[7].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  6. [7] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). spondylometaphyseal dysplasia. Retrieved May 3, 2026, from https://4ort.xyz/entity/spondylometaphyseal-dysplasia
MLA “spondylometaphyseal dysplasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spondylometaphyseal-dysplasia.
BibTeX @misc{4ortxyz_spondylometaphyseal-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spondylometaphyseal dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/spondylometaphyseal-dysplasia}, note = {Accessed: 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. 4d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0016763
    Genetic association → COL2A1
    Kegg id → H02185
    Orphanet id → 254
    + 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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