FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term platelet-type bleeding disorder 17 ID (Ontology) DOID:0111049 (Human Disease)
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.
Also Known As "BDPLT17" ; "hereditary thrombasthenia-thrombocytopenia"
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 Genes
 platelet-type bleeding disorder 17       1
 for disease ribbon | platelet-type bleeding disorder 17       1
 model of | platelet-type bleeding disorder 17       1
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__blood platelet disease______|
                                platelet-type bleeding disorder 17  1 rec.
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Is a autosomal dominant disease
blood platelet disease
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Synonyms
  • "BDPLT17" EXACT OMO:0003012
    "hereditary thrombasthenia-thrombocytopenia" EXACT
Secondary IDs
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ICD10CM:D69.1
MESH:D055652
MIM:187900
NCI:C84741
SNOMEDCT_US_2023_03_01:51720005
UMLS_CUI:C0272302