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Term:
thrombophilia due to thrombomodulin defect (DOID:0111908)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
thrombophilia +     
Aicardi-Goutieres syndrome +   
Antithrombin Deficiency Type 2 
antithrombin III deficiency  
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
disseminated intravascular coagulation +   
exudative vitreoretinopathy 4  
Factor V Excess with Spontaneous Thrombosis 
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
Familial Thrombomodulin Anomalies 
Gillespie syndrome  
heparin cofactor II deficiency  
Hereditary Thrombophilia  
hypophosphatasia +   
McCune Albright syndrome  
progeria +   
protein C deficiency +   
protein S deficiency +   
prothrombin deficiency +   
prothrombin thrombophilia 
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8  
thrombophilia due to activated protein C resistance  
thrombophilia due to decreased release of PLAT  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
thrombophilia due to thrombomodulin defect  
A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21. (DO)
thrombotic thrombocytopenic purpura +   
Weill-Marchesani syndrome +   
X-linked thrombophilia due to factor IX defect  

Synonyms
Exact Synonyms: THBD-related bleeding disorder ;   THBD-related coagulopathy ;   THPH12 ;   thrombomodulin-related bleeding disorder ;   thrombomodulin-related coagulopathy
Primary IDs: MESH:C566057
Alternate IDs: OMIM:614486
Xrefs: ORDO:436169
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/22036808/ "DO"

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