Human genes for familial episodic pain syndrome 1
Familial episodic pain syndrome 1 [DOID:0111729]
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.
Synonyms: familial episodic pain syndrome 1, DOID:0111729, hereditary episodic pain syndrome 1, FEPS1