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Metadata
ID	DOID:0111729
Name	familial episodic pain syndrome 1
Definition	A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. https://www.ncbi.nlm.nih.gov/pubmed/20547126
Xrefs	MIM:615040 ORDO:391389
Subsets	DO_rare_slim
Synonyms	FEPS1 [EXACT]
Parent Relationships	is_a familial episodic pain syndrome is_a autosomal dominant disease