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Metadata
ID DOID:0111056
Name platelet-type bleeding disorder 3
Definition A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
https://www.ncbi.nlm.nih.gov/pubmed/2052556, https://www.ncbi.nlm.nih.gov/pubmed/8486780
Xrefs

ICD10CM:D69.8

OMIM:177820

ORDO:52530

Subsets

DO_rare_slim

Synonyms

BDPLT3 [EXACT]

platelet type-von Willebrand disease [EXACT]

pseudo-von Willebrand disease [EXACT]

PT-VWD [EXACT]

von Willebrand disease platelet-type [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

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