gray platelet syndrome

Summary

DOID:0111044 - gray platelet syndrome

Disease Ontology Definition:A blood platelet 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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gfi1b, nbeal2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007686 - gray platelet syndrome

MONDO:0007686 - gray platelet syndrome

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

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

Parent(s): autosomal recessive disease (is_a), blood platelet disease (is_a)