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"

12 matching diseasesClear search ×

Rare hemorrhagic disorder due to a constitutional thrombocytopenia

Rare hemorrhagic disorder due to a quantitative platelet defect · Rare bleeding disorder due to a quantitative platelet defect

ORPHA:275729

Isolated constitutional thrombocytopenia

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

ORPHA:477797

Rare constitutional anemia

ORPHA:183651

Rare hemorrhagic disorder due to a coagulation factors defect

Rare bleeding disorder due to a coagulation factors defect · Rare coagulopathy due to a coagulation factor defect

ORPHA:248315

Rare hemorrhagic disorder due to a constitutional coagulation factors defect

Rare bleeding disorder due to a constitutional coagulation factors defect · Rare coagulopathy due to a constitutional coagulation factors defect

ORPHA:68334

Rare hemorrhagic disorder due to a constitutional platelet anomaly

Rare bleeding disorder due to a constitutional platelet anomaly · Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia

ORPHA:71202

Rare hemorrhagic disorder due to a platelet anomaly

Rare bleeding disorder due to a platelet anomaly · Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia

ORPHA:248326

Rare hemorrhagic disorder due to a qualitative platelet defect

Rare bleeding disorder due to a constitutional thrombopathy · Rare coagulopathy due to a constitutional thrombopathy

ORPHA:275736

Rare hemorrhagic disorder due to an acquired platelet anomaly

Rare bleeding disorder due to an acquired platelet anomaly · Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia

ORPHA:248347

Rare thrombotic disorder due to a constitutional coagulation factors defect

ORPHA:248361

Rare thrombotic disorder due to a constitutional platelet anomaly

ORPHA:248401

Syndromic constitutional thrombocytopenia

ORPHA:477794