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 thrombomodulin defect ID (Ontology) DOID:0111908 (Human Disease)
Definition A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.
Also Known As "THBD-related bleeding disorder" ; "THBD-related coagulopathy" ; "THPH12" (for all, see Synonyms field below)
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 Genes
 thrombophilia due to thrombomodulin defect       2
 for disease ribbon | thrombophilia due to thrombomodulin defect       2
 model of | thrombophilia due to thrombomodulin defect       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
blood coagulation disease      |
 |__thrombophilia______________|
                               thrombophilia due to thrombomodulin defect  2 rec.
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Is a autosomal genetic disease
thrombophilia
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Synonyms
  • "THBD-related bleeding disorder" EXACT
    "THBD-related coagulopathy" EXACT
    "THPH12" EXACT OMO:0003012
    "thrombomodulin-related bleeding disorder" EXACT
    "thrombomodulin-related coagulopathy" EXACT
Secondary IDs
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MESH:C566057
MIM:614486
ORDO:436169
SNOMEDCT_US_2023_03_01:1197595004
UMLS_CUI:C3280976