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familial episodic pain syndrome 3
Summary
- Synonym
-
- FEPS3
- 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.
- Super Class
- autosomal dominant disease familial episodic pain syndrome
External Links
- Disease Ontology
- DOID:0111731
- Mondo Disease Ontology
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
