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mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

MedicalCondition developmental_defect_during_embryogenesis Q55783390
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mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Summary

mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a developmental defect during embryogenesis[1].

Key Facts

  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's instance of is recorded as developmental defect during embryogenesis[2].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's instance of is recorded as rare disease[3].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's instance of is recorded as class of disease[4].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type of type 2 collagen-related bone disorder[5].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's ICD-9-CM is recorded as 755.63[6].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's NCI Thesaurus ID is recorded as C202115[7].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's genetic association is recorded as COL2A1[8].
  • mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93279[9].

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] ↑ . wikidata.org.
  7. [8] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . 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). mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis. Retrieved May 3, 2026, from https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis
MLA “mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis.
BibTeX @misc{4ortxyz_mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis}}, year = {2026}, url = {https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis — https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis · 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. 5w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0011496
    Genetic association → COL2A1
    Kegg id → H00445
    Orphanet id → 93279
    + 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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