Search Ontology:
Human Disease

Glanzmann thrombasthenia 2

Term ID
DOID:0061332
Synonyms
  • BDPLT23
  • GT2
  • platelet-type bleeding disorder 23
Definition
A blood platelet disease characterized by failure of platelet aggregation and by absent or diminished clot retraction and that has_material_basis_in homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32. https://pubmed.ncbi.nlm.nih.gov/9160670/
References
Ontology
Human Disease   ( DOID:0061332 )
Relationships
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Genes Involved
Zebrafish Models