| Disease ID | Source | Name | Description |
| 616050 | OMIM | Autoinflammation with infantile enterocolitis (AIFEC) | An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. The disease is caused by variants affecting the gene represented in this entry. |
| 616115 | OMIM | Familial cold autoinflammatory syndrome 4 (FCAS4) | A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. The disease is caused by variants affecting the gene represented in this entry. |