Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

ORPHA:436166

Autoinflammatory syndrome

ORPHA:93665

Autoinflammatory syndrome with skin involvement

ORPHA:290842

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

ORPHA:619948

F12-associated cold autoinflammatory syndrome

FACAS

ORPHA:617919

Familial cold urticaria

FCAS · FCU

ORPHA:47045

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

ORPHA:500062

Mixed autoinflammatory and autoimmune syndrome

ORPHA:324933

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

ORPHA:699605

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977

Pyogenic autoinflammatory syndrome

ORPHA:324927

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

ORPHA:619367

Unclassified autoinflammatory syndrome

ORPHA:324936