progressive myoclonus epilepsy

Human disease
MedicalCondition rare_disease Q7248853
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progressive myoclonus epilepsy

Summary

progressive myoclonus epilepsy is a rare disease[1]. It draws 18 Wikipedia views per month (rare_disease category, ranking #220 of 627).[2]

Key Facts

  • progressive myoclonus epilepsy's instance of is recorded as rare disease[3].
  • progressive myoclonus epilepsy's instance of is recorded as class of disease[4].
  • progressive myoclonus epilepsy's subclass of is recorded as variable age at onset electroclinical syndrome[5].
  • progressive myoclonus epilepsy's subclass of is recorded as myoclonic epilepsy[6].
  • progressive myoclonus epilepsy's subclass of is recorded as progressive epilepsy and/or ataxia with myoclonus as a major feature[7].
  • progressive myoclonus epilepsy's MeSH descriptor ID is recorded as D020191[8].
  • progressive myoclonus epilepsy's OMIM ID is recorded as 254900[9].
  • progressive myoclonus epilepsy's OMIM ID is recorded as 611726[10].
  • progressive myoclonus epilepsy's OMIM ID is recorded as 612437[11].
  • progressive myoclonus epilepsy's OMIM ID is recorded as 614018[12].
  • progressive myoclonus epilepsy's OMIM ID is recorded as 310370[13].
  • progressive myoclonus epilepsy's KEGG ID is recorded as H00810[14].
  • progressive myoclonus epilepsy's MeSH tree code is recorded as C10.228.140.490.493.063.650[15].
  • progressive myoclonus epilepsy's MeSH tree code is recorded as C10.228.140.490.375.130.650[16].
  • progressive myoclonus epilepsy's NL CR AUT ID is recorded as ph1141542[17].
  • progressive myoclonus epilepsy's Disease Ontology ID is recorded as DOID:891[18].
  • progressive myoclonus epilepsy's Orphanet ID is recorded as 98261[19].
  • progressive myoclonus epilepsy's NCI Thesaurus ID is recorded as C7636[20].
  • progressive myoclonus epilepsy's health specialty is recorded as neurology[21].
  • progressive myoclonus epilepsy's genetic association is recorded as GOSR2[22].
  • progressive myoclonus epilepsy's genetic association is recorded as KCTD7[23].
  • progressive myoclonus epilepsy's genetic association is recorded as SCARB2[24].
  • progressive myoclonus epilepsy's genetic association is recorded as PRICKLE1[25].
  • progressive myoclonus epilepsy's genetic association is recorded as KCNC1[26].
  • progressive myoclonus epilepsy's BabelNet ID is recorded as 00414664n[27].

Why It Matters

progressive myoclonus epilepsy draws 18 Wikipedia views per month (rare_disease category, ranking #220 of 627).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[28] It is known by 8 alternative names across languages and contexts.[29]

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] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. wikidata.org.
  21. [23] . Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. wikidata.org.
  22. [24] . Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. wikidata.org.
  23. [25] . A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. wikidata.org.
  24. [26] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  25. [27] . BabelNet. wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . 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). progressive myoclonus epilepsy. Retrieved May 3, 2026, from https://4ort.xyz/entity/progressive-myoclonus-epilepsy
MLA “progressive myoclonus epilepsy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/progressive-myoclonus-epilepsy.
BibTeX @misc{4ortxyz_progressive-myoclonus-epilepsy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{progressive myoclonus epilepsy}}, year = {2026}, url = {https://4ort.xyz/entity/progressive-myoclonus-epilepsy}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): progressive myoclonus epilepsy — https://4ort.xyz/entity/progressive-myoclonus-epilepsy (retrieved 2026-05-03)

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