Nager acrofacial dysostosis

acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children
MedicalCondition head_and_neck_disease Q12811075
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Nager acrofacial dysostosis

Summary

Nager acrofacial dysostosis is a head and neck disease[1]. It draws 34 Wikipedia views per month (head_and_neck_disease category, ranking #38 of 92).[2]

Key Facts

  • Nager acrofacial dysostosis's image is recorded as Nager acrofacial dysostosis patient lateral view.png[3].
  • Nager acrofacial dysostosis's instance of is recorded as head and neck disease[4].
  • Nager acrofacial dysostosis's instance of is recorded as developmental defect during embryogenesis[5].
  • Nager acrofacial dysostosis's instance of is recorded as rare disease[6].
  • Nager acrofacial dysostosis's instance of is recorded as class of disease[7].
  • Nager acrofacial dysostosis's subclass of is recorded as acrofacial dysostosis[8].
  • Nager acrofacial dysostosis's subclass of is recorded as malposition of external canthus[9].
  • Nager acrofacial dysostosis's subclass of is recorded as syndromic palpebral coloboma[10].
  • Nager acrofacial dysostosis's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome without intellectual disability[11].
  • Nager acrofacial dysostosis's subclass of is recorded as syndromic developmental defect of the eye[12].
  • Nager acrofacial dysostosis's subclass of is recorded as branchial arch or oral-acral syndrome[13].
  • Nager acrofacial dysostosis's subclass of is recorded as Pierre robin syndrome associated with branchial archs anomalies[14].
  • Nager acrofacial dysostosis's Commons category is recorded as Nager acrofacial dysostosis[15].
  • Nager acrofacial dysostosis's MeSH descriptor ID is recorded as C538184[16].
  • Nager acrofacial dysostosis's OMIM ID is recorded as 154400[17].
  • Nager acrofacial dysostosis's Disease Ontology ID is recorded as DOID:5768[18].
  • Nager acrofacial dysostosis's Orphanet ID is recorded as 245[19].
  • Nager acrofacial dysostosis's NCI Thesaurus ID is recorded as C35795[20].
  • Nager acrofacial dysostosis's genetic association is recorded as SF3B4[21].
  • Nager acrofacial dysostosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_5768[22].
  • Nager acrofacial dysostosis's exact match is recorded as http://identifiers.org/doid/DOID:5768[23].
  • Nager acrofacial dysostosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_245[24].
  • Nager acrofacial dysostosis's UMLS CUI is recorded as C0265245[25].
  • Nager acrofacial dysostosis's UMLS CUI is recorded as C1332140[26].
  • Nager acrofacial dysostosis's ICD-10-CM is recorded as Q75.4[27].

Why It Matters

Nager acrofacial dysostosis draws 34 Wikipedia views per month (head_and_neck_disease category, ranking #38 of 92).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[28] It is known by 17 alternative names across languages and contexts.[29]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  20. [22] . Disease Ontology. Retrieved . wikidata.org.
  21. [23] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  24. [26] . Disease Ontology. Retrieved . wikidata.org.
  25. [27] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . 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). Nager acrofacial dysostosis. Retrieved May 3, 2026, from https://4ort.xyz/entity/nager-acrofacial-dysostosis
MLA “Nager acrofacial dysostosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/nager-acrofacial-dysostosis.
BibTeX @misc{4ortxyz_nager-acrofacial-dysostosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Nager acrofacial dysostosis}}, year = {2026}, url = {https://4ort.xyz/entity/nager-acrofacial-dysostosis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Nager acrofacial dysostosis — https://4ort.xyz/entity/nager-acrofacial-dysostosis (retrieved 2026-05-03)

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