Smith-Magenis syndrome

Human disease
MedicalCondition developmental_defect_during_embryogenesis Q2295338
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Smith-Magenis syndrome

Summary

Smith-Magenis syndrome is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Smith-Magenis syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Smith-Magenis syndrome's instance of is recorded as designated intractable/rare disease[4].
  • Smith-Magenis syndrome's instance of is recorded as rare disease[5].
  • Smith-Magenis syndrome's instance of is recorded as class of disease[6].
  • R. Ellen Magenis is named after Smith-Magenis syndrome[7].
  • Smith-Magenis syndrome is a type of chromosomal deletion syndrome[8].
  • Smith-Magenis syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[9].
  • Smith-Magenis syndrome is a type of syndromic obesity[10].
  • Smith-Magenis syndrome is a type of partial monosomy of the short arm of chromosome 17[11].
  • Smith-Magenis syndrome is a type of rare disease with autism[12].
  • Smith-Magenis syndrome is a type of genetic syndromic intellectual disability[13].
  • Smith-Magenis syndrome is a type of disease[14].
  • Smith-Magenis syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4853[15].
  • Smith-Magenis syndrome's ICD-9-CM is recorded as 758.33[16].
  • Smith-Magenis syndrome's NCI Thesaurus ID is recorded as C75469[17].
  • Smith-Magenis syndrome's short name is recorded as {'lang': 'en', 'text': 'SMS'}[18].
  • Smith-Magenis syndrome's short name is recorded as {'lang': 'ru', 'text': 'СМС'}[19].
  • Smith-Magenis syndrome's short name is recorded as {'lang': 'de', 'text': 'SMS'}[20].
  • Smith-Magenis syndrome's short name is recorded as {'lang': 'bs', 'text': 'SMS'}[21].
  • Smith-Magenis syndrome's short name is recorded as {'lang': 'tr', 'text': 'SMS'}[22].
  • Smith-Magenis syndrome's health specialty is recorded as neurology[23].
  • Smith-Magenis syndrome's health specialty is recorded as medical genetics[24].
  • Smith-Magenis syndrome's genetic association is recorded as RAI1[25].
  • Smith-Magenis syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060768[26].
  • Smith-Magenis syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060768[27].

Why It Matters

Smith-Magenis syndrome has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[2] It is known by 16 alternative names across languages and contexts.[28]

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] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  3. [5] . 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] . wikidata.org.
  13. [15] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  14. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  24. [26] . Disease Ontology. Retrieved . wikidata.org.
  25. [27] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [28] . 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). Smith-Magenis syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/smith-magenis-syndrome
MLA “Smith-Magenis syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/smith-magenis-syndrome.
BibTeX @misc{4ortxyz_smith-magenis-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Smith-Magenis syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/smith-magenis-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Smith-Magenis syndrome — https://4ort.xyz/entity/smith-magenis-syndrome (retrieved 2026-05-03)

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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. 7w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of chromosomal deletion syndrome, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, syndromic obesity +4
    Instance of developmental defect during embryogenesis, designated intractable/rare disease, rare disease +1
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
  2. 7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of chromosomal deletion syndrome, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, syndromic obesity +4
    Named after
    Health specialty neurology, medical genetics
    Genetic association RAI1
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.