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hyperimmunoglobulinemia D with periodic fever

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Uniprot Description Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.
Mondo Term and Equivalent IDs
MONDO:0009849:  hyperimmunoglobulinemia D with periodic fever
GARD:0002788: 
Orphanet:343: 
UMLS:C0398691: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found