Search Ontology:
Human Disease

platelet-type bleeding disorder 16

Term ID
DOID:0060691
Synonyms
  • autosomal dominant Glanzmann thrombasthenia
  • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Definition
A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (3)
References
Ontology
Human Disease   ( DOID:0060691 )
Relationships
is a type of
disjoint_from
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Genes Involved
Zebrafish Models