Term Name: gray platelet syndrome
Synonyms: BDPLT4, GPS, platelet alpha-granule deficiency, platelet-type bleeding disorder 4
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.
Ontology: Human Disease [DOID:0111044]   ( DOID:0111044 )

Relationships
is a type of: autosomal recessive disease blood platelet disease