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Prader-Willi syndrome due to point mutation

human disease
MedicalCondition developmental_defect_during_embryogenesis Q48789662
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Summary

Prader-Willi syndrome due to point mutation is a developmental defect during embryogenesis[1]. It draws 138 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #122 of 308).[2]

Key Facts

  • Prader-Willi syndrome due to point mutation's instance of is recorded as developmental defect during embryogenesis[3].
  • Prader-Willi syndrome due to point mutation's instance of is recorded as rare disease[4].
  • Prader-Willi syndrome due to point mutation's instance of is recorded as class of disease[5].
  • Prader-Willi syndrome due to point mutation is a type of Prader–Willi syndrome[6].
  • Prader-Willi syndrome due to point mutation is a type of syndrome[7].
  • Prader-Willi syndrome due to point mutation's genetic association is recorded as MAGEL2[8].
  • Prader-Willi syndrome due to point mutation's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_398069[9].
  • Prader-Willi syndrome due to point mutation's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_739[10].
  • Prader-Willi syndrome due to point mutation's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111715[11].
  • Prader-Willi syndrome due to point mutation's exact match is recorded as http://identifiers.org/doid/DOID:0111715[12].

Why It Matters

Prader-Willi syndrome due to point mutation draws 138 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #122 of 308).[2] It is known by 12 alternative names across languages and contexts.[13]

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [13] ↑ . 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). Prader-Willi syndrome due to point mutation. Retrieved October 16, 2026, from https://4ort.xyz/entity/prader-willi-syndrome-due-to-point-mutation
MLA “Prader-Willi syndrome due to point mutation.” 4ort.xyz Knowledge Graph, 4ort.xyz, 16 Oct. 2026, https://4ort.xyz/entity/prader-willi-syndrome-due-to-point-mutation.
BibTeX @misc{4ortxyz_prader-willi-syndrome-due-to-point-mutation_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Prader-Willi syndrome due to point mutation}}, year = {2026}, url = {https://4ort.xyz/entity/prader-willi-syndrome-due-to-point-mutation}, note = {Accessed: 2026-10-16}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Prader-Willi syndrome due to point mutation — https://4ort.xyz/entity/prader-willi-syndrome-due-to-point-mutation (retrieved 2026-10-16)

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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. 15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0014243
    Genetic association → MAGEL2
    Kegg id → H02325
    Orphanet id → 398069
    + 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.