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McKusick–Kaufman syndrome

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations
MedicalCondition developmental_defect_during_embryogenesis Q3508674
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McKusick–Kaufman syndrome

Summary

McKusick–Kaufman syndrome is a developmental defect during embryogenesis[1]. It draws 38 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #102 of 308).[2]

Key Facts

  • McKusick–Kaufman syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • McKusick–Kaufman syndrome's instance of is recorded as rare disease[4].
  • McKusick–Kaufman syndrome's instance of is recorded as class of disease[5].
  • Victor A. McKusick is named after McKusick–Kaufman syndrome[6].
  • McKusick–Kaufman syndrome's subclass of is recorded as rare genetic developmental defect during embryogenesis[7].
  • McKusick–Kaufman syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome without intellectual disability[8].
  • McKusick–Kaufman syndrome's subclass of is recorded as autosomal recessive disease[9].
  • McKusick–Kaufman syndrome's subclass of is recorded as syndrome[10].
  • McKusick–Kaufman syndrome's subclass of is recorded as disease[11].
  • McKusick–Kaufman syndrome's MeSH descriptor ID is recorded as C538159[12].
  • McKusick–Kaufman syndrome's OMIM ID is recorded as 236700[13].
  • McKusick–Kaufman syndrome's ICD-10 ID is recorded as Q87.8[14].
  • McKusick–Kaufman syndrome's DiseasesDB is recorded as 33261[15].
  • McKusick–Kaufman syndrome's KEGG ID is recorded as H02180[16].
  • McKusick–Kaufman syndrome's GeneReviews ID is recorded as NBK1502[17].
  • McKusick–Kaufman syndrome's Disease Ontology ID is recorded as DOID:0111255[18].
  • McKusick–Kaufman syndrome's Orphanet ID is recorded as 2473[19].
  • McKusick–Kaufman syndrome's ICD-9-CM is recorded as 758.89[20].
  • McKusick–Kaufman syndrome's genetic association is recorded as MKKS[21].
  • McKusick–Kaufman syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2473[22].
  • McKusick–Kaufman syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111255[23].
  • McKusick–Kaufman syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111255[24].
  • McKusick–Kaufman syndrome's UMLS CUI is recorded as C0948368[25].
  • McKusick–Kaufman syndrome's ICD-10-CM is recorded as Q87.8[26].
  • McKusick–Kaufman syndrome's GARD rare disease ID is recorded as 3427[27].

Why It Matters

McKusick–Kaufman syndrome draws 38 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #102 of 308).[2] It has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[28] It is known by 17 alternative names across languages and contexts.[29]

Related Entities

disease

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] ↑ . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . 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] ↑ . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [21] ↑ . Q905695. Retrieved . wikidata.org.
  20. [22] ↑ . wikidata.org.
  21. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [24] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  23. [25] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  24. [26] ↑ . Monarch Disease Ontology release 2018-06-29. 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.

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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). McKusick–Kaufman syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/mckusick-kaufman-syndrome
MLA “McKusick–Kaufman syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/mckusick-kaufman-syndrome.
BibTeX @misc{4ortxyz_mckusick-kaufman-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{McKusick–Kaufman syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/mckusick-kaufman-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): McKusick–Kaufman syndrome — https://4ort.xyz/entity/mckusick-kaufman-syndrome (retrieved 2026-05-03)

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