short-rib thoracic dysplasia 14 with polydactyly

asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23
MedicalCondition rare_disease Q27164454
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short-rib thoracic dysplasia 14 with polydactyly

Summary

short-rib thoracic dysplasia 14 with polydactyly is a rare disease[1].

Key Facts

  • short-rib thoracic dysplasia 14 with polydactyly's instance of is recorded as rare disease[2].
  • short-rib thoracic dysplasia 14 with polydactyly's instance of is recorded as class of disease[3].
  • short-rib thoracic dysplasia 14 with polydactyly's subclass of is recorded as asphyxiating thoracic dysplasia[4].
  • short-rib thoracic dysplasia 14 with polydactyly's subclass of is recorded as Joubert syndrome with Jeune asphyxiating thoracic dystrophy[5].
  • short-rib thoracic dysplasia 14 with polydactyly's subclass of is recorded as autosomal recessive disease[6].
  • short-rib thoracic dysplasia 14 with polydactyly's OMIM ID is recorded as 616546[7].
  • short-rib thoracic dysplasia 14 with polydactyly's Disease Ontology ID is recorded as DOID:0110096[8].
  • short-rib thoracic dysplasia 14 with polydactyly's health specialty is recorded as medical genetics[9].
  • short-rib thoracic dysplasia 14 with polydactyly's genetic association is recorded as KIAA0586[10].
  • short-rib thoracic dysplasia 14 with polydactyly's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110096[11].
  • short-rib thoracic dysplasia 14 with polydactyly's exact match is recorded as http://identifiers.org/doid/DOID:0110096[12].
  • short-rib thoracic dysplasia 14 with polydactyly's UMLS CUI is recorded as C4225286[13].
  • short-rib thoracic dysplasia 14 with polydactyly's ICD-10-CM is recorded as Q04.3[14].
  • short-rib thoracic dysplasia 14 with polydactyly's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
  • short-rib thoracic dysplasia 14 with polydactyly's Mondo ID is recorded as MONDO_0014688[16].
  • short-rib thoracic dysplasia 14 with polydactyly's UniProt disease ID is recorded as DI-04524[17].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . 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). short-rib thoracic dysplasia 14 with polydactyly. Retrieved May 3, 2026, from https://4ort.xyz/entity/short-rib-thoracic-dysplasia-14-with-polydactyly
MLA “short-rib thoracic dysplasia 14 with polydactyly.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/short-rib-thoracic-dysplasia-14-with-polydactyly.
BibTeX @misc{4ortxyz_short-rib-thoracic-dysplasia-14-with-polydactyly_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{short-rib thoracic dysplasia 14 with polydactyly}}, year = {2026}, url = {https://4ort.xyz/entity/short-rib-thoracic-dysplasia-14-with-polydactyly}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): short-rib thoracic dysplasia 14 with polydactyly — https://4ort.xyz/entity/short-rib-thoracic-dysplasia-14-with-polydactyly (retrieved 2026-05-03)

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