congenital myasthenic syndrome

Human disease
MedicalCondition designated_intractable_rare_disease Q3508800
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congenital myasthenic syndrome

Summary

congenital myasthenic syndrome is a designated intractable/rare disease[1]. It draws 77 Wikipedia views per month (designated_intractable_rare_disease category, ranking #137 of 201).[2]

Key Facts

  • congenital myasthenic syndrome's instance of is recorded as designated intractable/rare disease[3].
  • congenital myasthenic syndrome's instance of is recorded as rare disease[4].
  • congenital myasthenic syndrome's instance of is recorded as class of disease[5].
  • congenital myasthenic syndrome's subclass of is recorded as neuromuscular junction disease[6].
  • congenital myasthenic syndrome's MeSH descriptor ID is recorded as D020294[7].
  • congenital myasthenic syndrome's KEGG ID is recorded as H00770[8].
  • congenital myasthenic syndrome's MeSH tree code is recorded as C10.668.758.800[9].
  • congenital myasthenic syndrome's MeSH tree code is recorded as C16.320.590[10].
  • congenital myasthenic syndrome's Disease Ontology ID is recorded as DOID:3635[11].
  • congenital myasthenic syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/3963[12].
  • congenital myasthenic syndrome's Orphanet ID is recorded as 590[13].
  • congenital myasthenic syndrome's NCI Thesaurus ID is recorded as C84647[14].
  • congenital myasthenic syndrome's health specialty is recorded as neurology[15].
  • congenital myasthenic syndrome's genetic association is recorded as CHRNA1[16].
  • congenital myasthenic syndrome's genetic association is recorded as SCN4A[17].
  • congenital myasthenic syndrome's genetic association is recorded as MUSK[18].
  • congenital myasthenic syndrome's genetic association is recorded as CHAT[19].
  • congenital myasthenic syndrome's genetic association is recorded as CHRNE[20].
  • congenital myasthenic syndrome's genetic association is recorded as CHRND[21].
  • congenital myasthenic syndrome's genetic association is recorded as RAPSN[22].
  • congenital myasthenic syndrome's genetic association is recorded as CHRNB1[23].
  • congenital myasthenic syndrome's genetic association is recorded as DPAGT1[24].
  • congenital myasthenic syndrome's genetic association is recorded as DOK7[25].
  • congenital myasthenic syndrome's genetic association is recorded as COL13A1[26].
  • congenital myasthenic syndrome's genetic association is recorded as GFPT1[27].

Why It Matters

congenital myasthenic syndrome draws 77 Wikipedia views per month (designated_intractable_rare_disease category, ranking #137 of 201).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[28] It is known by 6 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] . mhlw.go.jp. Retrieved . mhlw.go.jp. Provenance: wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  18. [20] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  20. [22] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  21. [23] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [25] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  24. [26] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  25. [27] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: 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). congenital myasthenic syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-myasthenic-syndrome
MLA “congenital myasthenic syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-myasthenic-syndrome.
BibTeX @misc{4ortxyz_congenital-myasthenic-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital myasthenic syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-myasthenic-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital myasthenic syndrome — https://4ort.xyz/entity/congenital-myasthenic-syndrome (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. 8w ago · InternetArchiveBot bot · 2026-05-04 view diff on Wikidata ↗
    Health specialty neurology
    On focus list of wikimedia project WikiProject Medicine
    Subclass of neuromuscular junction disease
    Instance of designated intractable/rare disease, rare disease, class of disease
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-statements-multiple-properties-update:0||2 */ Rescuing 2 sources and submitting 0 for archiving. #IABot (v2.0.9.5)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.