brachyolmia

osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature
MedicalCondition rare_disease Q18553406
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brachyolmia

Summary

brachyolmia is a rare disease[1].

Key Facts

  • brachyolmia's instance of is recorded as rare disease[2].
  • brachyolmia's instance of is recorded as class of disease[3].
  • brachyolmia's subclass of is recorded as osteochondrodysplasia[4].
  • brachyolmia's MeSH descriptor ID is recorded as C537098[5].
  • brachyolmia's OMIM ID is recorded as 113500[6].
  • brachyolmia's OMIM ID is recorded as 271530[7].
  • brachyolmia's OMIM ID is recorded as 271630[8].
  • brachyolmia's OMIM ID is recorded as 613678[9].
  • brachyolmia's KEGG ID is recorded as H00522[10].
  • brachyolmia's Disease Ontology ID is recorded as DOID:0050690[11].
  • brachyolmia's Orphanet ID is recorded as 1293[12].
  • brachyolmia's ICD-9-CM is recorded as 756.19[13].
  • brachyolmia's genetic association is recorded as TRPV4[14].
  • brachyolmia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050690[15].
  • brachyolmia's exact match is recorded as http://identifiers.org/doid/DOID:0050690[16].
  • brachyolmia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1293[17].
  • brachyolmia's UMLS CUI is recorded as C0432228[18].
  • brachyolmia's ICD-10-CM is recorded as Q76.3[19].
  • brachyolmia's GARD rare disease ID is recorded as 10903[20].
  • brachyolmia's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
  • brachyolmia's Mondo ID is recorded as MONDO_0015262[22].

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] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] . Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . Identifiers.org. ebi.ac.uk. Provenance: 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] . Disease Ontology. Retrieved . wikidata.org.
  20. [21] . wikidata.org.
  21. [22] . 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). brachyolmia. Retrieved May 3, 2026, from https://4ort.xyz/entity/brachyolmia
MLA “brachyolmia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/brachyolmia.
BibTeX @misc{4ortxyz_brachyolmia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brachyolmia}}, year = {2026}, url = {https://4ort.xyz/entity/brachyolmia}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): brachyolmia — https://4ort.xyz/entity/brachyolmia (retrieved 2026-05-03)

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