| Disease ID | Source | Name | Description |
| 615552 | OMIM | Episodic pain syndrome, familial, 3 (FEPS3) | An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. The disease is caused by variants affecting the gene represented in this entry. |
| 615548 | OMIM | Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) | A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. The disease is caused by variants affecting the gene represented in this entry. |