Home › Entities › class_of_disease › hyperekplexia 1

hyperekplexia 1

hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32
MedicalCondition class_of_disease Q28024514
Press Enter · cited answer in seconds

hyperekplexia 1

Summary

hyperekplexia 1 is a class of disease[1].

Key Facts

  • hyperekplexia 1's instance of is recorded as class of disease[2].
  • hyperekplexia 1 is a type of hyperekplexia[3].
  • hyperekplexia 1 is a type of genetic disease[4].
  • hyperekplexia 1 is a type of autosomal recessive disease[5].
  • hyperekplexia 1 is a type of autosomal dominant disease[6].
  • hyperekplexia 1's health specialty is recorded as neurology[7].
  • hyperekplexia 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060696[8].
  • hyperekplexia 1's exact match is recorded as http://identifiers.org/doid/DOID:0060696[9].
  • hyperekplexia 1's exact match is recorded as http://purl.obolibrary.org/obo/HP_0002267[10].
  • hyperekplexia 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [10] ↑ . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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 1. Retrieved May 3, 2026, from https://4ort.xyz/entity/hyperekplexia-1
MLA “hyperekplexia 1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hyperekplexia-1.
BibTeX @misc{4ortxyz_hyperekplexia-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hyperekplexia 1}}, year = {2026}, url = {https://4ort.xyz/entity/hyperekplexia-1}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hyperekplexia 1 — https://4ort.xyz/entity/hyperekplexia-1 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/hyperekplexia-1 · 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. 9w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0007868
    Imported from → —
    Umls cui → C0234166, C1836014, C1740801 +1
    Disease ontology id → DOID:0060696
    + 13 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.