Term Name: | familial episodic pain syndrome 1 |
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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 ) |