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"

6 matching diseasesClear search ×

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

ORPHA:32960

CAR T cell therapy-associated cytokine release syndrome

CAR T cell therapy-associated CRS · Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome

ORPHA:542323

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

ORPHA:247868

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

Periodic fever syndrome

ORPHA:101995