{"Name":"Catastrophic antiphospholipid syndrome","DiseaseID__c":"GARD:0009820","id":9820,"encodedName":"catastrophic-antiphospholipid-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Catastrophic antiphospholipid syndrome","Xref_IDs__c":"609329007; C3662487; MEDGEN:783641; MONDO:0018737; ORPHA:464343","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0009820","Disease_Description__c":"Catastrophic antiphospholipid syndrome (CAPS) is a rare form of antiphospholipid syndrome (APS). In CAPS multiple blood clots form throughout the body over a short period of time (usually within a week). CAPS is a medical emergency, as clots can cause life-threatening multi-organ failure. The cause of CAPS is unknown. A widely accepted explanation is that it is caused by a combination of genetic changes (making one more susceptible to CAPS) and an environmental trigger, such as an infection, trauma, or surgery.","GARD_Name__c":"Catastrophic antiphospholipid syndrome","GARD_Synonym__c":"asherson's syndrome; caps; catastrophic aps","Curated_Disease_Description_Source__c":"GARD:0009820","Curated_Disease_Description__c":"A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:464343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018737","ORPHANET_ID__c":"ORPHA:464343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome antifosfolipídico catastrófico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome antifosfolipídico catastrófico","Spanish_GARD_Synonym__c":"saf catastrófico; safc","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":"A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.","Curated_Disease_Description_Source__c":"GARD:0009820","GARD_Synonym__c":"asherson's syndrome; caps; catastrophic aps","Name":"Catastrophic antiphospholipid syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:464343"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/464343","Source__c":"C3662487; MONDO:0018737; ORPHA:464343","Xref__c":"ORPHA:464343"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=783641","Source__c":"C3662487","Xref__c":"MEDGEN:783641"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3662487","Source__c":"C3662487","Xref__c":"C3662487"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=609329007","Source__c":"C3662487; MONDO:0018737","Xref__c":"609329007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018737","Source__c":"GARD:0009820","Xref__c":"MONDO:0018737"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001654","HPO_Synonym__c":"Abnormality of the heart valves; Valvular abnormality","HPO_Name__c":"Abnormal heart valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002638","HPO_Name__c":"Superficial thrombophlebitis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006846","HPO_Name__c":"Acute encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025326","HPO_Synonym__c":"Retinal artery occlusion","HPO_Name__c":"Retinal arterial occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of blood flow through an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025324","HPO_Name__c":"Arterial occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","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:464343","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:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011112","HPO_Synonym__c":"Abnormality of serum cytokine level","HPO_Name__c":"Abnormal circulating cytokine concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hemolytic anemia in which the Coombs test is positive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004844","HPO_Synonym__c":"Direct Coombs positive","HPO_Name__c":"Coombs-positive hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001937","HPO_Name__c":"Microangiopathic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any functional abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031653","HPO_Name__c":"Abnormal heart valve physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002625","HPO_Synonym__c":"Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis","HPO_Name__c":"Deep venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002204","HPO_Synonym__c":"Blood clot in artery of lung","HPO_Name__c":"Pulmonary embolism","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002641","HPO_Synonym__c":"Peripheral blood clot","HPO_Name__c":"Peripheral thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","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:464343","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100576","HPO_Name__c":"Amaurosis fugax","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Always (100%)","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:464343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","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:464343","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:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012819","HPO_Synonym__c":"Inflammation of heart muscle","HPO_Name__c":"Myocarditis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Occasional (5-29%)","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:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005244","HPO_Synonym__c":"Death of digestive organ tissue due to poor blood supply; GI infarctions","HPO_Name__c":"Gastrointestinal infarctions","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","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:464343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464343","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a jugular vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000042","HPO_Synonym__c":"Abnormality of jugular vein","HPO_Name__c":"Abnormal jugular vein morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Hematology"],"Disease Category":["Hematology"]},"synonyms":["asherson's syndrome"," caps"," catastrophic aps"]}