| 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 ) |