FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term thrombophilia due to thrombin defect ID (Ontology) DOID:0111907 (Human Disease)
Definition A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
Also Known As "prothrombin-related thrombophilia" ; "THPH1" ; "thrombophilia due to factor 2 defect"
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 Genes
 thrombophilia due to thrombin defect      11
 for disease ribbon | thrombophilia due to thrombin defect      11
 model of | thrombophilia due to thrombin defect      11
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__thrombophilia_______________|
                                thrombophilia due to thrombin defect  11 rec.
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Is a autosomal dominant disease
thrombophilia
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Synonyms
  • "prothrombin-related thrombophilia" EXACT
    "THPH1" EXACT OMO:0003012
    "thrombophilia due to factor 2 defect" EXACT
Secondary IDs
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GARD:10815
MIM:188050
UMLS_CUI:C3160733