Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":5,"sourceGroups":{"omim":5,"orphanet":0,"published":0}},"features":[{"hpoId":"HP:0005305","label":"Cerebral venous thrombosis","primary":false},{"hpoId":"HP:0002625","label":"Deep venous thrombosis","primary":false},{"hpoId":"HP:0002204","label":"Pulmonary embolism","primary":false},{"hpoId":"HP:0004419","label":"Recurrent thrombophlebitis","primary":false},{"hpoId":"HP:0001907","label":"Thromboembolism","primary":false}],"ledeHtml":"Prothrombin thrombophilia is a disorder that increases the risk of developing blood clots. Thrombophilia is the term used to describe an increased tendency to form blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. People with thrombophilia can develop clots when they are not needed. These clots can block normal blood flow and cause harm.","mondoId":"MONDO:0008559","records":[{"frequencyKind":"reported","key":"0658d1d89c94737db85f56ddb87b927bbe9810a4b503c7384075ef2ad9bf6261","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:188050","disease_name":"Thrombophiliavenous thromboembolism, included","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005305","is_excluded":false,"label":"Cerebral venous thrombosis","onset_id":null,"reference":"OMIM:188050","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2e96cca81bb946f3d2e176bbec9dca21dec8a70f4ab6bd7109dfc3780e1a4cf1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:188050","disease_name":"Thrombophiliavenous thromboembolism, included","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002204","is_excluded":false,"label":"Pulmonary embolism","onset_id":null,"reference":"OMIM:188050","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8738291ccbac7097abaf84a56fe21366d9f09d402fa64eccd351c62b3a772bad","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:188050","disease_name":"Thrombophiliavenous thromboembolism, included","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004419","is_excluded":false,"label":"Recurrent thrombophlebitis","onset_id":null,"reference":"OMIM:188050","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"91444ab7af45e4cca0af3501bc2a0a6e15a3e3d203e62fa02ec43589609692e9","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:188050","disease_name":"Thrombophiliavenous thromboembolism, included","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001907","is_excluded":false,"label":"Thromboembolism","onset_id":null,"reference":"OMIM:188050","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f3be9efafa6e9df9222c5a4c54aab33ab8dc1cefcc93dadd636a934eacc2b55d","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:188050","disease_name":"Thrombophiliavenous thromboembolism, included","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002625","is_excluded":false,"label":"Deep venous thrombosis","onset_id":null,"reference":"OMIM:188050","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"A particular variant in the F2 gene causes most cases of prothrombin thrombophilia. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene is called prothrombin (also known as coagulation factor II). Prothrombin is the precursor to a protein called thrombin that initiates a series of chemical reactions to form a blood clot.
The variant in the F2 gene that causes most cases of prothrombin thrombophilia triggers the production of too much prothrombin. More prothrombin leads to more thrombin, which promotes the formation of blood clots.
","key":"forms","title":"What causes Prothrombin thrombophilia?"},{"bodyHtml":"People who have prothrombin thrombophilia have a higher-than-average risk of developing a type of clot called a deep vein thrombosis, which typically occurs in the blood vessels of the arms or legs. People with prothrombin thrombophilia also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs.
Research suggests that pregnancy loss may be somewhat more likely in people with prothrombin thrombophilia than in those who do not have the condition. Some researchers have suggested that prothrombin thrombophilia may also increase the risk of other complications during pregnancy, though this remains controversial.
While many people with prothrombin thrombophilia will never have clotting issues, several factors increase a person's risk of blood clots. Some risk factors that contribute to the development of harmful blood clots include surgery, injury or trauma, air travel, obesity, and a family history of blood clots. Additional risk factors include pregnancy, using contraceptives such as birth control pills or patches that contain estrogen, and receiving post-menopausal hormone replacement therapy. The combination of prothrombin thrombophilia and other clotting disorders may also increase a person's risk.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"prothrombin-thrombophilia","sourceDocuments":[{"name":"Prothrombin thrombophilia","reviewed":"2025-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:31.147323+00:00","label":"Causes","pageSha256":"d4b13a4f320270c9ba428836adf76ce5c87dfd256caa728fe36633d7d7aa414b","sourceUrl":"https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Prothrombin thrombophilia"},"schemaVersion":1}