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platelet-type bleeding disorder 16
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0060691
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
