parastremmatic dwarfism

very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs
MedicalCondition developmental_defect_during_embryogenesis Q7136039
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parastremmatic dwarfism

Summary

parastremmatic dwarfism is a developmental defect during embryogenesis[1].

Key Facts

  • parastremmatic dwarfism's instance of is recorded as developmental defect during embryogenesis[2].
  • parastremmatic dwarfism's instance of is recorded as rare disease[3].
  • parastremmatic dwarfism's instance of is recorded as class of disease[4].
  • parastremmatic dwarfism is a type of dwarfism[5].
  • parastremmatic dwarfism is a type of bent bone dysplasia[6].
  • parastremmatic dwarfism is a type of TRPV4-related bone disorder[7].
  • parastremmatic dwarfism is a type of osteochondrodysplasia[8].
  • parastremmatic dwarfism is a type of autosomal dominant disease[9].
  • parastremmatic dwarfism's genetic association is recorded as TRPV4[10].
  • parastremmatic dwarfism's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2646[11].
  • parastremmatic dwarfism's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111539[12].
  • parastremmatic dwarfism's exact match is recorded as http://identifiers.org/doid/DOID:0111539[13].

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] . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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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). parastremmatic dwarfism. Retrieved May 3, 2026, from https://4ort.xyz/entity/parastremmatic-dwarfism
MLA “parastremmatic dwarfism.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/parastremmatic-dwarfism.
BibTeX @misc{4ortxyz_parastremmatic-dwarfism_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{parastremmatic dwarfism}}, year = {2026}, url = {https://4ort.xyz/entity/parastremmatic-dwarfism}, 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. 22d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0008196
    Orphanet id 2646
    Babelnet id 03034063n
    Imported from
    + 16 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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