hyperekplexia

nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia
MedicalCondition rare_disease Q1781802
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hyperekplexia

Summary

hyperekplexia is a rare disease[1]. hyperekplexia has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • hyperekplexia's instance of is recorded as rare disease[3].
  • hyperekplexia's instance of is recorded as class of disease[4].
  • hyperekplexia is a type of neurological disorder[5].
  • hyperekplexia is a type of movement disorders[6].
  • hyperekplexia is a type of disease[7].
  • hyperekplexia's health specialty is recorded as neurology[8].
  • hyperekplexia's genetic association is recorded as GLRA1[9].
  • hyperekplexia's genetic association is recorded as ARHGEF9[10].
  • hyperekplexia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060695[11].
  • hyperekplexia's exact match is recorded as http://identifiers.org/doid/DOID:0060695[12].
  • hyperekplexia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_306773[13].
  • hyperekplexia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3197[14].
  • hyperekplexia's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].

Why It Matters

hyperekplexia has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[2] hyperekplexia is known by 9 alternative names across languages and contexts.[16]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. wikidata.org.
  8. [10] . The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [16] . 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). hyperekplexia. Retrieved May 3, 2026, from https://4ort.xyz/entity/hyperekplexia
MLA “hyperekplexia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hyperekplexia.
BibTeX @misc{4ortxyz_hyperekplexia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hyperekplexia}}, year = {2026}, url = {https://4ort.xyz/entity/hyperekplexia}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hyperekplexia — https://4ort.xyz/entity/hyperekplexia (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/hyperekplexia · Last refreshed:

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. 2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty neurology
    Genetic association GLRA1, ARHGEF9
    Subclass of
    Instance of rare disease, class of disease
    + 4 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.