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 ×

Fasciolopsiasis

ORPHA:658909

Fast-flow vascular malformation

Rare arteriovenous malformation

ORPHA:211266

FASTKD2-related infantile mitochondrial encephalomyopathy

ORPHA:166105

Fetal alcohol syndrome

ARBD · ARND

ORPHA:1915

Familial advanced sleep-phase syndrome

FASPS

ORPHA:164736

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

ORPHA:3165

Intramuscular fast-flow vascular anomaly

ORPHA:708007

Macrophagic myofasciitis

MMF

ORPHA:592

Necrotizing fasciitis

ORPHA:699697

Nodular fasciitis

Pseudosarcomatous fasciitis · Pseudosarcomatous fibromatosis

ORPHA:477742

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

ORPHA:707944

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

ORPHA:364531

F12-associated cold autoinflammatory syndrome

FACAS

ORPHA:617919

Friedreich ataxia

FA · FRDA

ORPHA:95