{"Name":"Chronic thromboembolic pulmonary hypertension","DiseaseID__c":"GARD:0013124","id":13124,"encodedName":"chronic-thromboembolic-pulmonary-hypertension","IsDeleted":false,"Disease_Name_Full__c":"Chronic thromboembolic pulmonary hypertension","Xref_IDs__c":"233947005; C2748504; I27.24; MEDGEN:440560; MONDO:0013024; OMIM:612862; ORPHA:70591","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0013024","Disease_Description__c":"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 &#181;m. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.","GARD_Name__c":"Chronic thromboembolic pulmonary hypertension","GARD_Synonym__c":"cteph; cteph, dvt-negative, susceptibility to; pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to","Curated_Disease_Description_Source__c":"GARD:0013124","Curated_Disease_Description__c":"Chronic thromboembolic pulmonary hypertension (CTEPH) is a unique pulmonary vascular disease caused by chronic block of the major lung arteries. Signs and symptoms commonly include progressive breathing difficulties (dyspnea) on exertion, fatigue, palpitations, loss of consciousness (syncope), or swelling (edema). However, up to 60% of patients have no history of acute pulmonary embolism. Some people with this disease may have clotting problems. Research suggests there may be a genetic predisposition leading to abnormal vascular healing after pulmonary embolism in susceptible individuals, but no specific gene genetic changes have been identified in CTEPH.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:70591","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013024","ORPHANET_ID__c":"ORPHA:70591","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertensión pulmonar tromboembólica crónica","Spanish_Description_Source__c":"ORPHA:70591","Spanish_Description__c":"Es una complicación poco frecuente de la embolia pulmonar (EP) aguda, sintomática o no, caracterizada por la oclusión de las arterias pulmonares con material intravascular fibrótico en combinación con una microvasculopatía secundaria de los vasos de menos de 500 &#181;m. La consecuencia es un incremento de la resistencia vascular pulmonar (RVP) y una insuficiencia cardíaca derecha progresiva.","Spanish_Disease_Name__c":"hipertensión pulmonar tromboembólica crónica","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97955","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":"Chronic thromboembolic pulmonary hypertension (CTEPH) is a unique pulmonary vascular disease caused by chronic block of the major lung arteries. Signs and symptoms commonly include progressive breathing difficulties (dyspnea) on exertion, fatigue, palpitations, loss of consciousness (syncope), or swelling (edema). However, up to 60% of patients have no history of acute pulmonary embolism. Some people with this disease may have clotting problems. Research suggests there may be a genetic predisposition leading to abnormal vascular healing after pulmonary embolism in susceptible individuals, but no specific gene genetic changes have been identified in CTEPH.","Curated_Disease_Description_Source__c":"GARD:0013124","GARD_Synonym__c":"cteph; cteph, dvt-negative, susceptibility to; pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to","Name":"Chronic thromboembolic pulmonary hypertension","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Phaware Global Association","Website__c":"https://www.phaware.global/"},{"Account_Name__c":"Pulmonary Hypertension Association","Website__c":"https://www.phassociation.org/"},{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:70591"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:70591"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:70591"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233947005","Source__c":"MONDO:0013024","Xref__c":"233947005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=440560","Source__c":"C2748504","Xref__c":"MEDGEN:440560"},{"URL__c":"https://www.omim.org/entry/612862","Source__c":"C2748504; MONDO:0013024; ORPHA:70591","Xref__c":"OMIM:612862"},{"URL__c":"https://www.orpha.net/en/disease/detail/70591","Source__c":"C2748504; MONDO:0013024","Xref__c":"ORPHA:70591"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748504","Source__c":"C2748504","Xref__c":"C2748504"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/I27.24","Source__c":"MONDO:0013024","Xref__c":"I27.24"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013024","Source__c":"GARD:0013124","Xref__c":"MONDO:0013024"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012184","HPO_Synonym__c":"High blood HDL level; Hyperalphalipoproteinemia; Increased circulating high-density lipoprotein levels","HPO_Name__c":"Increased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","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:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001693","HPO_Name__c":"Cardiac shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","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:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010536","HPO_Synonym__c":"Central sleep apnoea","HPO_Name__c":"Central sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Very frequent (80-99%)","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:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005133","HPO_Synonym__c":"Dilated heart right ventricle","HPO_Name__c":"Right ventricular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030977","HPO_Synonym__c":"Elevated factor VIII level","HPO_Name__c":"Increased factor VIII activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002792","HPO_Synonym__c":"Decreased vital capacity","HPO_Name__c":"Reduced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005135","HPO_Synonym__c":"EKG: T-wave abnormalities; T-wave abnormalities","HPO_Name__c":"Abnormal T-wave","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030877","HPO_Synonym__c":"Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing","HPO_Name__c":"Reduced FEV1/FVC ratio","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002875","HPO_Synonym__c":"Exertional breathlessness; Shortness of breathing upon physical activity","HPO_Name__c":"Exertional dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in size of the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030718","HPO_Synonym__c":"Dilated right atrium; Enlarged heart right atrium; Right atrial dilatation","HPO_Name__c":"Right atrial enlargement","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005317","HPO_Name__c":"Increased pulmonary vascular resistance","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Qualitatively abnormal fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011901","HPO_Synonym__c":"Dysfibrinogenaemia","HPO_Name__c":"Dysfibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","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:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally reduced blood carbon dioxide (CO2) level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012417","HPO_Synonym__c":"Hypocarbia; Reduced carbon dioxide in the blood","HPO_Name__c":"Hypocapnia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004831","HPO_Name__c":"Recurrent thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","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:70591","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Frequent (30-79%)","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:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012146","HPO_Name__c":"Abnormality of von Willebrand factor","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005547","HPO_Name__c":"Myeloproliferative disorder","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hematopoietic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001871","HPO_Synonym__c":"Abnormality of blood and blood-forming tissues; Abnormality of the hematopoietic system; Hematological abnormality","HPO_Name__c":"Abnormality of blood and blood-forming tissues","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70591","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Vascular Medicine","Pediatrics"]},"synonyms":["cteph"," cteph, dvt-negative, susceptibility to"," pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to"]}