Familial Episodic Pain Syndrome 3
Disease ID: disease_node_19409
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| Dbxref | MIM:615552, NCI:C125390, ORDO:391392 |
|---|---|
| Subclassof | DOID_0111728, DOID_0050736 |
| Data Source | DOID |
| Synonyms | FEPS3 |
| Doid Label | familial episodic pain syndrome 3 |
| Doid Description | A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19409 |
| Doid Id | DOID_0111731 |
| Label | Familial Episodic Pain Syndrome 3 |
- 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)