Search Ontology:
Human Disease

platelet-type bleeding disorder 24

Term ID
DOID:0061330
Synonyms
  • BDPLT24
  • glanzmann thrombasthenia-like with macrothrombocytopenia 2
Definition
A blood platelet disease characterized by an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis and that has_material_basis_in heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32. (2)
References
Ontology
Human Disease   ( DOID:0061330 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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