Visualize Submit Comment

Metadata
ID	DOID:0111731
Name	familial episodic pain syndrome 3
Definition	A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/24207120
Xrefs	MIM:615552 NCI:C125390 ORDO:391392
Subsets	DO_rare_slim NCIthesaurus
Synonyms	FEPS3 [EXACT]
Parent Relationships	is_a familial episodic pain syndrome is_a autosomal dominant disease