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"

9 matching diseasesClear search ×

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

ORPHA:220452

Autosomal dominant macrothrombocytopenia

ORPHA:140957

Epstein syndrome

Alport syndrome with macrothrombocytopenia

ORPHA:1019

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

ORPHA:477797

Macrothrombocytopenia with mitral valve insufficiency

ORPHA:220448

Medich giant platelet syndrome

Medich macrothrombocytopenia

ORPHA:370127

Mediterranean macrothrombocytopenia

ORPHA:101022

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

ORPHA:182050

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

ORPHA:807