Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Quebec platelet disorder (DOID:0111050)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Activated Protein C Resistance  
antithrombin III deficiency  
Bernard-Soulier syndrome +   
congenital afibrinogenemia +   
Dysprothrombinemia 
Essential Athrombia 
Factor V and Factor VIII, Combined Deficiency of, 2  
factor V deficiency +   
factor VII deficiency  
factor VIII deficiency +   
factor X deficiency  
factor XI deficiency  
factor XII deficiency  
factor XIII deficiency +   
Factors VIII, IX and XI, Combined Deficiency of 
Familial Multiple Coagulation Factor Deficiency I  
Familial Multiple Coagulation Factor Deficiency II 
Familial Multiple Coagulation Factor Deficiency IV 
Familial Multiple Coagulation Factor Deficiency VI 
Familial Platelet Disorder with Associated Myeloid Malignancy  
Glanzmann's thrombasthenia +   
gray platelet syndrome +   
hemophilia B  
Hermansky-Pudlak syndrome +   
high molecular weight kininogen deficiency  
Passovoy Factor 
Pechet Factor Deficiency 
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
protein C deficiency +   
prothrombin deficiency +   
Quebec platelet disorder  
An inherited blood coagulation 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)
Scott syndrome  
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1  
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2  
von Willebrand's disease +   
Wiskott-Aldrich syndrome +   

Synonyms
Exact Synonyms: BDPLT5 ;   Bleeding Disorder, Platelet-Type, 5 ;   Factor V Quebec ;   QPD
Primary IDs: MESH:C536260
Alternate IDs: OMIM:601709 ;   RDO:0001766
Xrefs: GARD:8345 ;   ORDO:220436
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18988861, https://www.ncbi.nlm.nih.gov/pubmed/20007542

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.