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"

200 matching diseasesClear search ×

Familial tumoral calcinosis

ORPHA:53715

Familial vesicoureteral reflux

Familial VUR

ORPHA:289365

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

ORPHA:2604

Fanconi anemia

Fanconi pancytopenia

ORPHA:84

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

ORPHA:1981

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

ORPHA:2088

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

ORPHA:333

Fasciolopsiasis

ORPHA:658909