| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
FEPS1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |