Familial Episodic Pain Syndrome 1
Disease ID: disease_node_19411
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615040, ORDO:391389 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111728 |
| Data Source | DOID |
| Synonyms | FEPS1 |
| Doid Label | familial episodic pain syndrome 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19411 |
| Doid Id | DOID_0111729 |
| Label | Familial Episodic Pain Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Episodic Pain Syndrome(ID:disease_node_19408) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)