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
-
- GARD:2478
- MIM:619267
- ORDO:849
- UMLS_CUI:C0040015
- Ontology
- Human Disease ( DOID:0061332 )
Other Pages
Genes Involved
Zebrafish Models