Rare Disease Library

Necrotizing soft tissue infection

NSTI

Constitutional deficiency anemia

Constitutional dyserythropoietic anemia

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Isolated constitutional thrombocytopenia

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

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

Rare constitutional anemia

Rare constitutional aplastic anemia

Rare constitutional hemolytic anemia

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

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

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

Rare thrombotic disorder due to a constitutional coagulation factors defect

Rare thrombotic disorder due to a constitutional platelet anomaly

Syndromic constitutional thrombocytopenia