acromelic frontonasal dysostosis

dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations
MedicalCondition developmental_defect_during_embryogenesis Q21124508
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Summary

acromelic frontonasal dysostosis is a developmental defect during embryogenesis[1]. It is known by 9 alternative names across languages and contexts.[2]

Key Facts

  • acromelic frontonasal dysostosis's instance of is recorded as developmental defect during embryogenesis[3].
  • acromelic frontonasal dysostosis's instance of is recorded as rare disease[4].
  • acromelic frontonasal dysostosis's instance of is recorded as class of disease[5].
  • acromelic frontonasal dysostosis is a type of dysostosis[6].
  • acromelic frontonasal dysostosis is a type of midface dysplasia[7].
  • acromelic frontonasal dysostosis's genetic association is recorded as ZSWIM6[8].
  • acromelic frontonasal dysostosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060342[9].
  • acromelic frontonasal dysostosis's exact match is recorded as http://identifiers.org/doid/DOID:0060342[10].
  • acromelic frontonasal dysostosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1827[11].
  • acromelic frontonasal dysostosis's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].

Why It Matters

acromelic frontonasal dysostosis is known by 9 alternative names across languages and contexts.[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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). acromelic frontonasal dysostosis. Retrieved October 13, 2026, from https://4ort.xyz/entity/acromelic-frontonasal-dysostosis
MLA “acromelic frontonasal dysostosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 13 Oct. 2026, https://4ort.xyz/entity/acromelic-frontonasal-dysostosis.
BibTeX @misc{4ortxyz_acromelic-frontonasal-dysostosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{acromelic frontonasal dysostosis}}, year = {2026}, url = {https://4ort.xyz/entity/acromelic-frontonasal-dysostosis}, note = {Accessed: 2026-10-13}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): acromelic frontonasal dysostosis — https://4ort.xyz/entity/acromelic-frontonasal-dysostosis (retrieved 2026-10-13)

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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. 14w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0011359
    Genetic association → ZSWIM6
    Gard rare disease id → 5539, 2393
    Orphanet id → 1827
    + 13 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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