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Metadata
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

ICD10CM:D69.8

OMIM:614200

ORDO:98886

Subsets

DO_rare_slim

Synonyms

BDPLT9 [EXACT]

collagen platelet receptor deficiency [EXACT]

glycoprotein Ia deficiency [EXACT]

GP Ia deficiency [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

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