Term Name: platelet-type bleeding disorder 17
Synonyms: BDPLT17, hereditary thrombasthenia-thrombocytopenia
Definition: A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
Ontology: Human Disease [DOID:0111049]   ( DOID:0111049 )

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