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"

3 matching diseasesClear search ×

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

ORPHA:457375

Immune thrombocytopenia

ITP · Immune thrombocytopenic purpura

ORPHA:3002

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

ORPHA:93585