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Ontology Browser

Term:
Quebec platelet disorder (DOID:0111050)
Annotations: Rat: (1) Mouse: (1) Human: (5) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Bernard-Soulier syndrome +   
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
Factor V and Factor VIII, Combined Deficiency of, 2  
Familial Multiple Coagulation Factor Deficiency I  
Familial Platelet Disorder with Associated Myeloid Malignancy  
Glanzmann's thrombasthenia +   
gray platelet syndrome +   
immunodeficiency 71  
MYH-9 related disease +   
Phospholipase A2, Group IVA, Deficiency of  
Platelet Aggregation, Spontaneous 
Platelet Factor 3 Deficiency 
Platelet Prostacyclin Receptor Defect 
Platelet Receptor for Collagen, Deficiency of 
Platelet Signal Processing Defect 
platelet storage pool deficiency +   
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
Platelet-Type Bleeding Disorder 13  
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
Platelet-Type Bleeding Disorder 21  
Platelet-Type Bleeding Disorder 22  
Platelet-Type Bleeding Disorder 24  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Primary Release Disorder Of Platelets 
qualitative platelet defect 
Quebec platelet disorder  
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. (DO)
Stormorken syndrome  
thrombocytopenia +   
thrombocytosis +   
Undefined Platelet Disorder 
von Willebrand's disease +   
White Platelet Syndrome 
X-linked dyserythropoietic anemia  

Synonyms
Exact Synonyms: BDPLT5 ;   Bleeding Disorder, Platelet-Type, 5 ;   Factor V Quebec ;   QPD
Primary IDs: MESH:C536260
Alternate IDs: OMIM:601709
Xrefs: GARD:8345 ;   ORDO:220436
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18988861 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20007542 "DO" "DO"

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