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gray platelet syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Explore Associated Targets
Mondo Description Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
Uniprot Description A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.
Disease Ontology Description An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
Mondo Term and Equivalent IDs
MONDO:0007686:  gray platelet syndrome
GARD:0002562: 
MESH:D055652: 
NCIT:C84741: 
Orphanet:721: 
SCTID:51720005: 
UMLS:C0272302: 
UMLS:C2717750: 
UMLS:CN205641: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)