Metadata | |
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ID | DOID:0080701 |
Name | prothrombin thrombophilia |
Definition | A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/21707594/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a thrombophilia |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |