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congenital thrombotic thrombocytopenic purpura

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Uniprot Description A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive.
Mondo Term and Equivalent IDs
MONDO:0010122:  congenital thrombotic thrombocytopenic purpura
GARD:0009430: 
NCIT:C131657: 
Orphanet:93583: 
SCTID:373420004: