Search Ontology:
Human Disease

platelet-type bleeding disorder 14

Term ID
DOID:0111047
Synonyms
  • BDPLT14
  • thromboxane synthase deficiency
Definition
A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. https://www.ncbi.nlm.nih.gov/pubmed/6268139
References
Ontology
Human Disease   ( DOID:0111047 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models