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"

11 matching diseasesClear search ×

Medich giant platelet syndrome

Medich macrothrombocytopenia

ORPHA:370127

Autoimmune thrombocytopenia

ORPHA:71203

Autosomal dominant macrothrombocytopenia

ORPHA:140957

Epstein syndrome

Alport syndrome with macrothrombocytopenia

ORPHA:1019

Immune thrombocytopenia

ITP · Immune thrombocytopenic purpura

ORPHA:3002

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

ORPHA:220452

Macrothrombocytopenia with mitral valve insufficiency

ORPHA:220448

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

ORPHA:850

Mediterranean macrothrombocytopenia

ORPHA:101022

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

ORPHA:807

Severe autosomal recessive macrothrombocytopenia

ORPHA:438207