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

Ontology Browser

Term:
platelet-type bleeding disorder 17 (DOID:0111049)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Acquired Pure Megakaryocytic Aplasia 
acquired thrombocytopenia +   
Activated Protein C Resistance  
antithrombin III deficiency  
autosomal dominant macrothrombocytopenia TUBB1-related  
Bernard-Soulier syndrome +   
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
congenital disorder of glycosylation Ix  
DK Phocomelia Syndrome 
Dysprothrombinemia 
Essential Athrombia 
Evans' syndrome +   
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 II 
Familial Multiple Coagulation Factor Deficiency IV 
Familial Multiple Coagulation Factor Deficiency VI 
Familial Platelet Disorder with Associated Myeloid Malignancy  
Forsythe-Wakeling Syndrome 
Gardner Morrisson Abbot Syndrome 
Giant Platelet Syndrome with Thrombocytopenia 
Glanzmann's thrombasthenia +   
gray platelet syndrome +   
hemophilia B  
Hermansky-Pudlak syndrome +   
IVIC syndrome  
Jacobsen Distal 11q Deletion Syndrome +   
Kasabach-Merritt Syndrome +   
MYH-9 related disease +   
Neonatal Alloimmune Thrombocytopenia  
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  
An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)
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  
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +   
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Schlegelberger Grote Syndrome 
Scott syndrome  
Spastic Paraplegia and Evans Syndrome 
Takenouchi-Kosaki Syndrome  
Tetraphocomelia-Thrombocytopenia Syndrome 
Thrombocytopenia 1  
Thrombocytopenia 2  
Thrombocytopenia 3  
Thrombocytopenia 4  
THROMBOCYTOPENIA 5  
THROMBOCYTOPENIA 6  
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia due to platelet alloimmunization +   
Thrombocytopenia Robin Sequence 
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thrombocytopenia, Anemia, and Myelofibrosis  
Thrombocytopenia, Cyclic 
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
thrombocytopenia-absent radius syndrome  
Thrombotic Microangiopathies +   
transient neonatal thrombocytopenia 
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 +   
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  

Synonyms
Exact Synonyms: BDPLT17 ;   hereditary thrombasthenia-thrombocytopenia
Primary IDs: MESH:C566060
Alternate IDs: OMIM:187900 ;   RDO:0014532 ;   RDO:9004872
Xrefs: NCI:C84741
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24325358, https://www.ncbi.nlm.nih.gov/pubmed/5681484

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.