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DO Term : thrombophilia due to thrombin defect [DOID:0111907] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
  • synonyms:
  • THPH1,
  • UMLS_CUI:C3160733,
  • OMIM:188050,
  • thrombophilia due to factor 2 defect,
  • prothrombin-related thrombophilia,
  • GARD:10815,
  • 188050
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