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

• ICD10CM:D69.1
• MESH:D055652
• MIM:187900
• NCI:C84741
• SNOMEDCT_US_2023_03_01:51720005
• UMLS_CUI:C0272302

Ontology

Human Disease   ( DOID:0111049 )