Summary Literature (0)

DOID:0111044 - gray platelet syndrome

Disease Ontology Definition: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.

Synonyms: BDPLT4, GPS, platelet alpha-granule deficiency, platelet-type bleeding disorder 4,

Echinobase Genes :


OMIM:

MIM:139090 - gray platelet syndrome; gps

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee