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"

9 matching diseasesClear search ×

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

ORPHA:42642

Hereditary periodic fever syndrome

ORPHA:324924

Marshall syndrome

ORPHA:560

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

ORPHA:561

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

ORPHA:247868

Periodic fever syndrome

ORPHA:101995

Periodic fever syndrome of childhood

ORPHA:324939

Unexplained periodic fever syndrome

ORPHA:102237

Unexplained periodic fever syndrome of childhood

ORPHA:324960