proximal symphalangism

autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness
MedicalCondition rare_disease Q18553473
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proximal symphalangism

Summary

proximal symphalangism is a rare disease[1].

Key Facts

  • proximal symphalangism's instance of is recorded as rare disease[2].
  • proximal symphalangism's instance of is recorded as class of disease[3].
  • proximal symphalangism's subclass of is recorded as autosomal dominant disease[4].
  • proximal symphalangism's subclass of is recorded as syndactyly[5].
  • proximal symphalangism's subclass of is recorded as syndrome[6].
  • proximal symphalangism's MeSH descriptor ID is recorded as C536223[7].
  • proximal symphalangism's OMIM ID is recorded as 185800[8].
  • proximal symphalangism's KEGG ID is recorded as H00851[9].
  • proximal symphalangism's Disease Ontology ID is recorded as DOID:0050788[10].
  • proximal symphalangism's Orphanet ID is recorded as 3250[11].
  • proximal symphalangism's genetic association is recorded as NOG[12].
  • proximal symphalangism's genetic association is recorded as GDF5[13].
  • proximal symphalangism's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050788[14].
  • proximal symphalangism's exact match is recorded as http://identifiers.org/doid/DOID:0050788[15].
  • proximal symphalangism's exact match is recorded as http://purl.obolibrary.org/obo/HP_0100264[16].
  • proximal symphalangism's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3250[17].
  • proximal symphalangism's UMLS CUI is recorded as C3714899[18].
  • proximal symphalangism's UMLS CUI is recorded as C1861385[19].
  • proximal symphalangism's Human Phenotype Ontology ID is recorded as HP:0100264[20].
  • proximal symphalangism's ICD-10-CM is recorded as Q70.9[21].
  • proximal symphalangism's GARD rare disease ID is recorded as 8182[22].
  • proximal symphalangism's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
  • proximal symphalangism's Mondo ID is recorded as MONDO_0008511[24].
  • proximal symphalangism's UniProt disease ID is recorded as DI-02350[25].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . Q905695. Retrieved . wikidata.org.
  12. [13] . Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [16] . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [22] . Disease Ontology. Retrieved . wikidata.org.
  22. [23] . wikidata.org.
  23. [24] . wikidata.org.
  24. [25] . 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). proximal symphalangism. Retrieved May 3, 2026, from https://4ort.xyz/entity/proximal-symphalangism
MLA “proximal symphalangism.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/proximal-symphalangism.
BibTeX @misc{4ortxyz_proximal-symphalangism_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{proximal symphalangism}}, year = {2026}, url = {https://4ort.xyz/entity/proximal-symphalangism}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): proximal symphalangism — https://4ort.xyz/entity/proximal-symphalangism (retrieved 2026-05-03)

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