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's subclass of is recorded as primary bone dysplasia[5].
  • spondylometaphyseal dysplasia's KEGG ID is recorded as H02185[6].
  • spondylometaphyseal dysplasia's Orphanet ID is recorded as 254[7].
  • spondylometaphyseal dysplasia's genetic association is recorded as COL2A1[8].
  • spondylometaphyseal dysplasia's Google Knowledge Graph ID is recorded as /g/11b6sys9x0[9].
  • spondylometaphyseal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_254[10].
  • spondylometaphyseal dysplasia's ICD-10-CM is recorded as Q77.8[11].
  • spondylometaphyseal dysplasia's Mondo ID is recorded as MONDO_0016763[12].
  • spondylometaphyseal dysplasia's ICD-11 ID is recorded as LD24.4[13].
  • spondylometaphyseal dysplasia's ICD-11 ID is recorded as 181781948[14].

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] . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . 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}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spondylometaphyseal dysplasia — https://4ort.xyz/entity/spondylometaphyseal-dysplasia (retrieved 2026-05-03)

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