OBO ID: DOID:0111049
Term Name: platelet-type bleeding disorder 17 Search Ontology:
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 )
OTHER platelet-type bleeding disorder 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GFI1B Bleeding disorder, platelet-type, 17 187900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None