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":5,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":8,"sourceGroups":{"omim":3,"orphanet":0,"published":5}},"features":[{"hpoId":"HP:0011873","label":"Abnormal platelet count","primary":false},{"hpoId":"HP:0000978","label":"Bruising susceptibility","primary":false},{"hpoId":"HP:0031364","label":"Ecchymosis","primary":false},{"hpoId":"HP:0000421","label":"Epistaxis","primary":false},{"hpoId":"HP:0008320","label":"Impaired collagen-induced platelet aggregation","primary":false},{"hpoId":"HP:0011871","label":"Impaired ristocetin-induced platelet aggregation","primary":false},{"hpoId":"HP:0000132","label":"Menorrhagia","primary":false},{"hpoId":"HP:0003010","label":"Prolonged bleeding time","primary":false}],"ledeHtml":"Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).","mondoId":"MONDO:0013623","records":[{"frequencyKind":"reported","key":"0c048db07ddec049c12d59f4272e7de3fa69db23814c9e486b8b5b09baad4b67","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000132","is_excluded":false,"label":"Menorrhagia","onset_id":null,"reference":"OMIM:614201","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7826f5b5cf085592ecc6f3809c0ccedabbd778acb365dbe248e5c410ea53dc8b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000421","is_excluded":false,"label":"Epistaxis","onset_id":null,"reference":"OMIM:614201","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8f2ca59f8793d13f30d8bc3c296f79e067d67fbc4cb41177600fd0a809f12be8","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003010","is_excluded":false,"label":"Prolonged bleeding time","onset_id":null,"reference":"PMID:19549989","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c0a47e46a83fb91dc3c31ce2a017d65bf4e24910e351675432030fad183de573","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0011873","is_excluded":true,"label":"Abnormal platelet count","onset_id":null,"reference":"PMID:19549989","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dd236fe6f1a4ddb67c950bb0e9af4340da86acda20700b2f0c607d7e18873497","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000978","is_excluded":false,"label":"Bruising susceptibility","onset_id":null,"reference":"OMIM:614201","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"df3330087d26ca8b3303dca4d6f762ff83f5ac5fc392fda679dbf69b7e83f039","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008320","is_excluded":false,"label":"Impaired collagen-induced platelet aggregation","onset_id":null,"reference":"PMID:19549989","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e517c620738cbe40b39890886835fa11f994392d6263dec21801e771c50d565a","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031364","is_excluded":false,"label":"Ecchymosis","onset_id":null,"reference":"PMID:19549989","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fbd64794e566d2ffa26e55ce979f637ac14d5d756c7dd009930b57c1f69ec023","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:614201","disease_name":"Bleeding disorder, platelet-type, 11","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0011871","is_excluded":true,"label":"Impaired ristocetin-induced platelet aggregation","onset_id":null,"reference":"PMID:19549989","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Glycoprotein VI deficiency can be caused by mutations in the GP6 gene, which provides instructions for making a protein called glycoprotein VI (GPVI). This protein is embedded in the outer membrane of blood cells called platelets, which are an essential component of blood clots. In response to an injury that causes bleeding, the GPVI protein begins clot formation by attaching (binding) to another protein called collagen that is found on blood vessel walls. The binding of GPVI to collagen also signals additional platelets to come together to increase the size of the clot.
GP6 gene mutations can lead to the production of no GPVI protein; an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot, leading to the bleeding problems associated with glycoprotein VI deficiency.
Some cases of glycoprotein VI deficiency are not caused by GP6 gene mutations; instead these cases are acquired, which means they do not appear to be caused by inherited gene mutations. These acquired cases of glycoprotein VI deficiency are associated with autoimmune disorders such as immune thrombocytopenia purpura, Graves' disease, or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's own cells and tissues. Some individuals with these autoimmune disorders produce immune proteins called antibodies that attack and destroy the GPVI protein. As a result, there is a shortage (deficiency) of functional GPVI protein on the surface of platelets, which leads to bleeding problems characteristic of glycoprotein VI deficiency.
","key":"forms","title":"What causes Glycoprotein VI deficiency?"},{"bodyHtml":"Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"glycoprotein-vi-deficiency","sourceDocuments":[{"name":"Glycoprotein VI deficiency","reviewed":"2017-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:52.753467+00:00","label":"Causes","pageSha256":"effb4168cd3d2f4f9b022c7a1bbd74cf7c49dc6ee9e13abe28d516e8236bbd8d","sourceUrl":"https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency"}],"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":"Glycoprotein VI deficiency"},"schemaVersion":1}