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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
acquired factor XI deficiency 
acquired hemophilia +  
acquired von willebrand syndrome 
alpha-2-plasmin inhibitor deficiency 
autoimmune thrombocytopenic purpura 
autosomal dominant disease +   
autosomal recessive disease +   
brachydactyly-syndactyly syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome 
combined deficiency of factor V and factor VIII +  
congenital agammaglobulinemia +  
congenital amegakaryocytic thrombocytopenia 1 
congenital analbuminemia 
congenital anemia +  
congenital factor V deficiency 
congenital factor XI deficiency 
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
congenital factor XII deficiency 
congenital factor XIII deficiency +  
congenital fibrinogen deficiency +  
congenital high-molecular-weight kininogen deficiency 
congenital plasminogen activator inhibitor type 1 deficiency 
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 
congenital secondary polycythemia +  
congenital thrombotic thrombocytopenic purpura 
congenital vitamin K-dependent coagulation factors deficiency +  
constitutional neutropenia +  
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 
East Texas bleeding disorder 
Ehlers-Danlos syndrome, fibronectinemic type 
factor V and factor VIII, combined deficiency of, type 1 
factor VII deficiency +  
factor X deficiency +  
factor XIII, A subunit, deficiency of 
familial thrombomodulin anomalies 
fetal and neonatal alloimmune thrombocytopenia 
Glanzmann thrombasthenia +  
GNE myopathy 
hemophilia A +  
hemophilia B +  
hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 
hereditary hemolytic uremic syndrome +  
hereditary thrombocytopenia and hematologic cancer predisposition syndrome +  
hereditary thrombocytosis with transverse limb defect 
hereditary von Willebrand disease +  
Hermansky-Pudlak syndrome +  
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
hypoplasminogenemia 
inherited bleeding disorder, platelet-type +  
inherited prekallikrein deficiency 
inherited thrombophilia +  
leukocyte adhesion deficiency type II 
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 
platelet-type bleeding disorder 10 
platelet-type bleeding disorder 14 
platelet-type bleeding disorder 18 
platelet-type bleeding disorder 8 
prothrombin deficiency +  
purpura +  
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 
Scott syndrome 
septooptic dysplasia 
thrombocytopenia-absent radius syndrome 
thrombomodulin-related bleeding disorder 
vascular hemostatic disease +  
Weill-Marchesani syndrome +  
Wiskott-Aldrich syndrome 

Synonyms
Exact Synonyms: PTA deficiency ;   Rosenthal factor deficiency ;   Rosenthal syndrome ;   Rosenthal's disease ;   factor XI deficiency, autosomal dominant ;   factor XI deficiency, autosomal recessive ;   haemophilia C ;   hemophilia C ;   hereditary Factor XI deficiency ;   hereditary factor XI deficiency disease
Related Synonyms: F11 deficiency ;   factor 11 deficiency ;   factor XI deficiency
Alternate IDs: MONDO:0012897
Xrefs: DOID:2229 ;   GARD:9670 ;   ICD9:286.2 ;   MEDGEN:8770 ;   MIM:612416 ;   NCI:C84705 ;   ORDO:329 ;   SCTID:49762007 ;   UMLS:C0015523 ;   icd11.foundation:413739466
see_also: https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency" xsd:anyURI {source="GARD:0009670
Definition Sources: Orphanet:329

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