hyperekplexia 2

hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32
MedicalCondition rare_disease Q28024515
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hyperekplexia 2

Summary

hyperekplexia 2 is a rare disease[1].

Key Facts

  • hyperekplexia 2's instance of is recorded as rare disease[2].
  • hyperekplexia 2's instance of is recorded as class of disease[3].
  • hyperekplexia 2 is a type of hyperekplexia[4].
  • hyperekplexia 2 is a type of genetic disease[5].
  • hyperekplexia 2 is a type of autosomal recessive disease[6].
  • hyperekplexia 2's health specialty is recorded as neurology[7].
  • hyperekplexia 2's genetic association is recorded as GLRB[8].
  • hyperekplexia 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060697[9].
  • hyperekplexia 2's exact match is recorded as http://identifiers.org/doid/DOID:0060697[10].
  • hyperekplexia 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

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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). hyperekplexia 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/hyperekplexia-2
MLA “hyperekplexia 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hyperekplexia-2.
BibTeX @misc{4ortxyz_hyperekplexia-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hyperekplexia 2}}, year = {2026}, url = {https://4ort.xyz/entity/hyperekplexia-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hyperekplexia 2 — https://4ort.xyz/entity/hyperekplexia-2 (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. 4w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id MONDO_0013828
    Imported from
    Umls cui C3553291
    Disease ontology id DOID:0060697
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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