Metadata | |
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ID | DOID:0111045 |
Name | platelet-type bleeding disorder 9 |
Definition | A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/2933589, https://www.ncbi.nlm.nih.gov/pubmed/2943331 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BDPLT9 [EXACT] collagen platelet receptor deficiency [EXACT] glycoprotein Ia deficiency [EXACT] GP Ia deficiency [EXACT] |
Parent Relationships |