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"

7 matching diseasesClear search ×

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

ORPHA:71493

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Essential thrombocythemia

ET · Essential thrombocytosis

ORPHA:3318

Familial thrombomodulin anomalies

ORPHA:3324

OBSOLETE: Inherited predisposition to essential thrombocythemia

OBSOLETE: Familial essential thrombocythemia

ORPHA:225968

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

ORPHA:90042

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect

ORPHA:329319