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Ontology Browser

Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
alpha-2-plasmin inhibitor deficiency  
antithrombin III deficiency  
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
Bernard-Soulier syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
blood platelet disease +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Chondrodysplasia Punctata with Coagulation Factor Deficiency 
congenital afibrinogenemia +   
congenital nystagmus 1  
Congenital Plasminogen Deficiency 
disseminated intravascular coagulation +   
Dysfibrinogenemia Causing Recurrent Thrombosis 
Essential Athrombia 
exudative vitreoretinopathy 4  
factor V deficiency +   
factor VII deficiency  
factor VIII deficiency +   
factor X deficiency  
factor XI deficiency  
A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (DO)
factor XII deficiency  
factor XIII deficiency +   
Factors VIII, IX and XI, Combined Deficiency of 
familial adenomatous polyposis +   
Familial Hemorrhagic Diathesis due to Antithrombin 
familial Mediterranean fever +   
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  
Flood Factor Deficiency 
Gillespie syndrome  
Glanzmann's thrombasthenia +   
gray platelet syndrome +   
hemophilia B  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hermansky-Pudlak syndrome +   
high molecular weight kininogen deficiency  
hypophosphatasia +   
McCune Albright syndrome  
Passovoy Factor 
Pechet Factor Deficiency 
Plasminogen Activator Inhibitor-1 Deficiency  
platelet storage pool 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 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  
progeria +   
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
protein C deficiency +   
prothrombin deficiency +   
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency  
purpura +   
retinitis pigmentosa 86  
Robinow syndrome +   
Scott syndrome  
septooptic dysplasia +   
Sotos syndrome +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8  
Tatsumi Factor Deficiency 
thrombophilia due to activated protein C resistance  
thrombophilia due to thrombomodulin defect  
vascular hemostatic disease +   
vitamin K deficiency bleeding  
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1  
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2  
von Willebrand's disease +   
Waterhouse-Friderichsen syndrome +  
Weill-Marchesani syndrome +   
Wiskott-Aldrich syndrome +   

Exact Synonyms: F11 deficiency ;   PTA DEFICIENCY ;   Rosenthal syndrome ;   Rosenthal syndromes ;   Rosenthal's Syndrome ;   Rosenthal's disease ;   Rosenthals Syndrome ;   congenital factor XI deficiency ;   factor XI deficiencies ;   hemophilia C ;   hereditary factor XI deficiency disease ;   plasma thromboplastin antecedent deficiency
Primary IDs: MESH:D005173
Alternate IDs: OMIA:000363 ;   OMIM:612416
Xrefs: GARD:9670 ;   ICD10CM:D68.1 ;   ICD9CM:286.2 ;   NCI:C84705
Definition Sources: "DO", "DO"

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