Term Name: | gray platelet syndrome |
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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 ) |