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 ×

Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa

ORPHA:652510

Genetic autoinflammatory syndrome with skin involvement

ORPHA:622720

Genetic immune deficiency with skin involvement

ORPHA:183494

Genetic inflammatory or rheumatoid-like osteoarthropathy

ORPHA:498445

Granulomatous autoinflammatory syndrome

ORPHA:324930

Granulomatous autoinflammatory syndrome of childhood

ORPHA:324950

Hemolytic disease due to fetomaternal alloimmunization

HDFN · Hemolytic disease of the fetus and newborn

ORPHA:275938

Hemolytic disease of the newborn with Kell alloimmunization

Anti-K HDN · Maternal anti-Kell alloimmunization

ORPHA:275944