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Human Disease

platelet-type bleeding disorder 17

Term ID
DOID:0111049
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. (2)
References
Ontology
Human Disease   ( DOID:0111049 )
Relationships
is a type of
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Genes Involved
Zebrafish Models