{"Name":"Antiphospholipid syndrome","DiseaseID__c":"GARD:0005824","id":5824,"encodedName":"antiphospholipid-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Antiphospholipid syndrome","Xref_IDs__c":"26843008; C0085278; C61283; D016736; D68.61; DOID:2988; MEDGEN:38834; MONDO:8000010; ORPHA:80","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:8000010","Disease_Description__c":"A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.","GARD_Name__c":"Antiphospholipid syndrome","GARD_Synonym__c":"anticardiolipin syndrome; antiphospholipid antibody syndrome; apl - antiphospholipid syndrome; apls; aps - antiphospholipid syndrome; classic antiphospholipid syndrome; classic apls; familial lupus anticoagulant; hughes syndrome","Curated_Disease_Description_Source__c":"GARD:0005824","Curated_Disease_Description__c":"Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight. A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age. Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of cells involved in blood clotting called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, or heart disease. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:80","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:8000010","ORPHANET_ID__c":"ORPHA:80","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome antifosfolípido","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome antifosfolípido","Spanish_GARD_Synonym__c":"safl; safl clásico; síndrome antifosfolípido clásico; síndrome de anticuerpos antifosfolípidos; síndrome de hughes","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight. A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age. Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of cells involved in blood clotting called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, or heart disease. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.","Curated_Disease_Description_Source__c":"GARD:0005824","GARD_Synonym__c":"anticardiolipin syndrome; antiphospholipid antibody syndrome; apl - antiphospholipid syndrome; apls; aps - antiphospholipid syndrome; classic antiphospholipid syndrome; classic apls; familial lupus anticoagulant; hughes syndrome","Name":"Antiphospholipid syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.org/"},{"Account_Name__c":"Lupus Foundation of America","Website__c":"https://www.lupus.org/"},{"Account_Name__c":"APS Foundation of America, Inc.","Website__c":"https://www.apsfa.org/"},{"Account_Name__c":"APS Support UK","Website__c":"https://www.aps-support.org.uk/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pregnancy-Related Diseases","Tag_Category__c":"Specialist","curated_tag_name":"Pregnancy-related diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2988","Source__c":"MONDO:8000010","Xref__c":"DOID:2988"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016736","Source__c":"C0085278; MONDO:8000010","Xref__c":"D016736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=38834","Source__c":"C0085278","Xref__c":"MEDGEN:38834"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26843008","Source__c":"C0085278; MONDO:8000010","Xref__c":"26843008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61283","Source__c":"C0085278; MONDO:8000010","Xref__c":"C61283"},{"URL__c":"https://www.orpha.net/en/disease/detail/80","Source__c":"C0085278; MONDO:8000010; ORPHA:80","Xref__c":"ORPHA:80"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D68.61","Source__c":"MONDO:8000010","Xref__c":"D68.61"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085278","Source__c":"C0085278","Xref__c":"C0085278"},{"URL__c":"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome","Source__c":"GARD:0005824","Xref__c":"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_8000010","Source__c":"GARD:0005824","Xref__c":"MONDO:8000010"},{"URL__c":"https://www.nhlbi.nih.gov/health/antiphospholipid-syndrome"},{"URL__c":"https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034097","HPO_Name__c":"Anti-phosphatidyl choline antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034084","HPO_Name__c":"Anti-phosphatidyl ethanolamine antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034101","HPO_Name__c":"Anti-annexin-V antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of circulating IgG autoantibodies to cardiolipin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020136","HPO_Name__c":"Anticardiolipin IgG antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of circulating autoantibodies to phospholipids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003613","HPO_Synonym__c":"Antiphospholipid antibodies; Antiphospholipid antibody; Phospholipid antibody positivity","HPO_Name__c":"Antiphospholipid antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the orifice of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001718","HPO_Synonym__c":"Mitral valve stenosis","HPO_Name__c":"Mitral stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033505","HPO_Name__c":"Livedo reticularis","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034098","HPO_Name__c":"Anti-phosphatidyl glycerol antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033260","HPO_Name__c":"Livedo racemosa","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025420","HPO_Name__c":"Diffuse alveolar hemorrhage","Feature_System__c":"Cardiovascular System; Respiratory system; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034100","HPO_Name__c":"Anti-phosphatidyl serine antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034099","HPO_Name__c":"Anti-phosphatidyl inositol antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of coagulation associated with an increased risk of thrombosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100724","HPO_Synonym__c":"Blood hyperviscosity; Thrombophilia","HPO_Name__c":"Hypercoagulability","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034157","HPO_Synonym__c":"Anti-beta2GPI IgM antibody positivity","HPO_Name__c":"Anti-beta-2-Glycoprotein I IgM antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008222","HPO_Synonym__c":"Female infertility","HPO_Name__c":"Female infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002140","HPO_Name__c":"Ischemic stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034156","HPO_Synonym__c":"Anti-beta2GPI IgG antibody positivity","HPO_Name__c":"Anti-beta-2-Glycoprotein I IgG antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of circulating IgM autoantibodies to cardiolipin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020137","HPO_Name__c":"Anticardiolipin IgM antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025343","HPO_Name__c":"Lupus anticoagulant","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:80","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032376","HPO_Synonym__c":"Anti-B2GPI positivity","HPO_Name__c":"Anti-beta 2 glycoprotein I antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Rheumatology","Hematology","Obstetrics / Gynecology","Pregnancy-Related Diseases"],"Disease Category":["Hematology","Urogenital Disorders"]},"synonyms":["anticardiolipin syndrome"," antiphospholipid antibody syndrome"," apl - antiphospholipid syndrome"," apls"," aps - antiphospholipid syndrome"," classic antiphospholipid syndrome"," classic apls"," familial lupus anticoagulant"," hughes syndrome"]}