Metadata | |
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ID | DOID:0111730 |
Name | familial episodic pain syndrome 2 |
Definition | A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/23115331 |
Xrefs | |
Synonyms |
FEPS2 [EXACT] |
Parent Relationships |