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familial episodic pain syndrome with predominantly lower limb involvement

rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age
MedicalCondition rare_disease Q55784748
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familial episodic pain syndrome with predominantly lower limb involvement

Summary

familial episodic pain syndrome with predominantly lower limb involvement is a rare disease[1].

Key Facts

  • familial episodic pain syndrome with predominantly lower limb involvement's instance of is recorded as rare disease[2].
  • familial episodic pain syndrome with predominantly lower limb involvement's instance of is recorded as class of disease[3].
  • familial episodic pain syndrome with predominantly lower limb involvement's subclass of is recorded as familial episodic pain syndrome[4].
  • familial episodic pain syndrome with predominantly lower limb involvement's OMIM ID is recorded as 615552[5].
  • familial episodic pain syndrome with predominantly lower limb involvement's Orphanet ID is recorded as 391392[6].
  • familial episodic pain syndrome with predominantly lower limb involvement's NCI Thesaurus ID is recorded as C125390[7].
  • familial episodic pain syndrome with predominantly lower limb involvement's genetic association is recorded as SCN11A[8].
  • familial episodic pain syndrome with predominantly lower limb involvement's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_391384[9].
  • familial episodic pain syndrome with predominantly lower limb involvement's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_391392[10].
  • familial episodic pain syndrome with predominantly lower limb involvement's UMLS CUI is recorded as C3809899[11].
  • familial episodic pain syndrome with predominantly lower limb involvement's ICD-10-CM is recorded as M79.6[12].
  • familial episodic pain syndrome with predominantly lower limb involvement's Mondo ID is recorded as MONDO_0014247[13].
  • familial episodic pain syndrome with predominantly lower limb involvement's UniProt disease ID is recorded as DI-03978[14].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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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). familial episodic pain syndrome with predominantly lower limb involvement. Retrieved May 3, 2026, from https://4ort.xyz/entity/familial-episodic-pain-syndrome-with-predominantly-lower-limb-involvement
MLA “familial episodic pain syndrome with predominantly lower limb involvement.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/familial-episodic-pain-syndrome-with-predominantly-lower-limb-involvement.
BibTeX @misc{4ortxyz_familial-episodic-pain-syndrome-with-predominantly-lower-limb-involvement_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{familial episodic pain syndrome with predominantly lower limb involvement}}, year = {2026}, url = {https://4ort.xyz/entity/familial-episodic-pain-syndrome-with-predominantly-lower-limb-involvement}, note = {Accessed: 2026-05-03}}
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