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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"
Sebastian syndrome
Macrothrombocytopenia with leukocyte inclusions
Epstein syndrome
Alport syndrome with macrothrombocytopenia
Fechtner syndrome
Alport syndrome with leukocyte inclusions and macrothrombocytopenia
Isolated hereditary giant platelet disorder
Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia
Macrothrombocytopenia with mitral valve insufficiency
Medich giant platelet syndrome
Medich macrothrombocytopenia
Mediterranean macrothrombocytopenia