Term Name: familial episodic pain syndrome 1
Synonyms: FEPS1
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.
Ontology: Human Disease [DOID:0111729]   ( DOID:0111729 )

Relationships
is a type of: autosomal dominant disease familial episodic pain syndrome