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platelet-type bleeding disorder 11

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.
Uniprot Description A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material basis in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
Mondo Term and Equivalent IDs
MONDO:0013623:  platelet-type bleeding disorder 11
GARD:0013293: 
Orphanet:98885: 
SCTID:765977002: 
UMLS:C3280120: