Laurence-Moon syndrome

rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities
MedicalCondition developmental_defect_during_embryogenesis Q3961678
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Laurence-Moon syndrome

Summary

Laurence-Moon syndrome is a developmental defect during embryogenesis[1]. It draws 73 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #113 of 308).[2]

Key Facts

  • Laurence-Moon syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Laurence-Moon syndrome's instance of is recorded as rare disease[4].
  • Laurence-Moon syndrome's instance of is recorded as class of disease[5].
  • Laurence-Moon syndrome is a type of autosomal recessive disease[6].
  • Laurence-Moon syndrome is a type of unclassified primitive or secondary maculopathy[7].
  • Laurence-Moon syndrome is a type of syndromic retinitis pigmentosa[8].
  • Laurence-Moon syndrome is a type of syndromic developmental defect of the eye[9].
  • Laurence-Moon syndrome is a type of hereditary retinal dystrophy[10].
  • Laurence-Moon syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[11].
  • Laurence-Moon syndrome is a type of genetic syndromic intellectual disability[12].
  • Laurence-Moon syndrome is a type of syndrome[13].
  • Laurence-Moon syndrome's Commons category is recorded as Laurence-Moon syndrome[14].
  • Laurence-Moon syndrome's ICD-9-CM is recorded as 253.4[15].
  • Laurence-Moon syndrome's NCI Thesaurus ID is recorded as C34760[16].
  • Laurence-Moon syndrome's health specialty is recorded as medical genetics[17].
  • Laurence-Moon syndrome's genetic association is recorded as PNPLA6[18].
  • Laurence-Moon syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_1930[19].
  • Laurence-Moon syndrome's exact match is recorded as http://identifiers.org/doid/DOID:1930[20].
  • Laurence-Moon syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2377[21].
  • Laurence-Moon syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].

Why It Matters

Laurence-Moon syndrome draws 73 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #113 of 308).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[23] It is known by 16 alternative names across languages and contexts.[24]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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] ↑ . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . Q905695. Retrieved . wikidata.org.
  17. [19] ↑ . Disease Ontology. Retrieved . wikidata.org.
  18. [20] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  19. [21] ↑ . wikidata.org.
  20. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [23] ↑ . Wikidata sitelinks. wikidata.org.
  3. [24] ↑ . 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). Laurence-Moon syndrome. Retrieved October 5, 2026, from https://4ort.xyz/entity/laurence-moon-syndrome
MLA “Laurence-Moon syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Oct. 2026, https://4ort.xyz/entity/laurence-moon-syndrome.
BibTeX @misc{4ortxyz_laurence-moon-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Laurence-Moon syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/laurence-moon-syndrome}, note = {Accessed: 2026-10-05}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Laurence-Moon syndrome — https://4ort.xyz/entity/laurence-moon-syndrome (retrieved 2026-10-05)

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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. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → autosomal recessive disease, unclassified primitive or secondary maculopathy, syndromic retinitis pigmentosa +5
    Health specialty → medical genetics
    Genetic association → PNPLA6
    Subclass of → —
    + 4 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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