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distal arthrogryposis

muscle tissue disease characterized by congenital joint contractures of hand and feet
MedicalCondition developmental_defect_during_embryogenesis Q18553375
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distal arthrogryposis

Summary

distal arthrogryposis is a developmental defect during embryogenesis[1].

Key Facts

  • distal arthrogryposis's instance of is recorded as developmental defect during embryogenesis[2].
  • distal arthrogryposis's instance of is recorded as rare disease[3].
  • distal arthrogryposis's instance of is recorded as class of disease[4].
  • distal arthrogryposis is a type of neurogenic arthrogryposis multiplex congenita[5].
  • distal arthrogryposis is a type of muscle tissue disease[6].
  • distal arthrogryposis's genetic association is recorded as MYBPC1[7].
  • distal arthrogryposis's genetic association is recorded as ECEL1[8].
  • distal arthrogryposis's genetic association is recorded as PIEZO2[9].
  • distal arthrogryposis's genetic association is recorded as TPM2[10].
  • distal arthrogryposis's exact match is recorded as http://identifiers.org/doid/DOID:0050646[11].
  • distal arthrogryposis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050646[12].
  • distal arthrogryposis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1147[13].
  • distal arthrogryposis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_97120[14].
  • distal arthrogryposis's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. wikidata.org.
  7. [8] ↑ . Mutations in ECEL1 cause distal arthrogryposis type 5D. wikidata.org.
  8. [9] ↑ . Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. wikidata.org.
  9. [10] ↑ . Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. wikidata.org.
  10. [11] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . 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). distal arthrogryposis. Retrieved May 3, 2026, from https://4ort.xyz/entity/distal-arthrogryposis
MLA “distal arthrogryposis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/distal-arthrogryposis.
BibTeX @misc{4ortxyz_distal-arthrogryposis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{distal arthrogryposis}}, year = {2026}, url = {https://4ort.xyz/entity/distal-arthrogryposis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): distal arthrogryposis — https://4ort.xyz/entity/distal-arthrogryposis (retrieved 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. 21d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0007364
    Orphanet id → 97120, 1147
    Imported from → —
    Mesh descriptor id → C535384
    + 14 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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