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Scott syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
Uniprot Description A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
Mondo Term and Equivalent IDs
MONDO:0009885:  Scott syndrome
GARD:0004777: 
MESH:C563120: 
Orphanet:806: 
SCTID:128098009: 
UMLS:C0796149: