Ontology Browser

Term:
platelet-type bleeding disorder 18 (DOID:0111051)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Activated Protein C Resistance  
antithrombin III deficiency  
Bernard-Soulier syndrome +   
Bleeding Disorder Due To P2rx1 Defect 
Blood Loss, Surgical  
Circumvallate Placenta Syndrome 
congenital afibrinogenemia +   
Dysprothrombinemia  
Ecchymosis 
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
Epistaxis +   
Essential Athrombia 
Exsanguination 
Eye Hemorrhage +   
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  
Gastrointestinal Hemorrhage +   
Glanzmann's thrombasthenia +   
gray platelet syndrome +   
hemarthrosis +   
hematocele of tunica vaginalis testis 
Hematoma +   
Hematuria +   
Hemobilia 
Hemoperitoneum 
hemophilia B  
Hemoptysis 
Hemothorax +  
Hermansky-Pudlak syndrome +   
Intracranial Hemorrhages +   
MYH-9 related disease +   
Oral Hemorrhage +  
Passovoy Factor 
Pechet Factor Deficiency 
Phospholipase A2, Group IVA, Deficiency of  
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE  
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 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 18  
An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material basis in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
Platelet-Type Bleeding Disorder 21  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Postoperative Hemorrhage +  
Primary Release Disorder Of Platelets 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
protein C deficiency +   
prothrombin deficiency +   
Pulmonary Hemorrhage +   
purpura +   
qualitative platelet defect 
Quebec platelet disorder  
Retrobulbar Hemorrhage 
Scott syndrome  
Shock, Hemorrhagic +   
Stormorken syndrome  
thrombocytopenia +   
thrombocytosis +   
Undefined Platelet Disorder 
Uterine Hemorrhage +   
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1  
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2  
von Willebrand's disease +   
White Platelet Syndrome 
Wiskott-Aldrich syndrome +   
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  

Synonyms
Exact Synonyms: BDPLT18 ;   bleeding disorder due to CalDAG-GEFI deficiency ;   bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Primary IDs: OMIM:615888
Alternate IDs: RDO:9001378
Xrefs: ORDO:420566
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24958846

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