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Metadata
ID DOID:0111050
Name Quebec platelet disorder
Definition A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
https://www.ncbi.nlm.nih.gov/pubmed/18988861, https://www.ncbi.nlm.nih.gov/pubmed/20007542
Xrefs

GARD:8345

MESH:C536260

OMIM:601709

ORDO:220436

UMLS_CUI:C1866423

Subsets

DO_rare_slim

Synonyms

BDPLT5 [EXACT]

factor V Quebec [EXACT]

platelet-type bleeding disorder 5 [EXACT]

Parent Relationships

is_a blood platelet disease

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