{"Name":"Primary myelofibrosis","DiseaseID__c":"GARD:0008618","id":8618,"encodedName":"primary-myelofibrosis","IsDeleted":false,"Disease_Name_Full__c":"Primary myelofibrosis","Xref_IDs__c":"128843003; 307651005; C0001815; C2862; D055728; D47.4; DOID:4971; MEDGEN:7929; MONDO:0009692; ORPHA:824","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009692","Disease_Description__c":"A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.","GARD_Name__c":"Primary myelofibrosis","GARD_Synonym__c":"agnogenic myeloid metaplasia; aleukemic myelosis; amm; bone marrow fibrosis; chronic idiopathic myelofibrosis; cimf; idiopathic bone marrow fibrosis; idiopathic myelofibrosis; megakaryocytic myelosclerosis; myelofibrosis as a result of myeloproliferative disease; myelofibrosis with myeloid metaplasia, somatic; myelofibrosis, somatic; myelosclerosis; myelosclerosis with myeloid metaplasia; osteomyelofibrosis","Curated_Disease_Description_Source__c":"GARD:0008618","Curated_Disease_Description__c":"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:824","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009692","ORPHANET_ID__c":"ORPHA:824","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mielofibrosis primaria","Spanish_Description_Source__c":"ORPHA:824","Spanish_Description__c":"Es una neoplasia mieloproliferativa poco frecuente caracterizada por el exceso de proliferación clonal de líneas mieloides maduras derivadas de células madre, como eritrocitos, leucocitos y megacariocitos, con grados variables de atipia megacariocítica asociados a fibrosis reticulínica o colágena de la médula ósea, osteosclerosis, eritropoyesis ineficaz, angiogénesis, hematopoyesis extramedular y expresión anómala de citoquinas.","Spanish_Disease_Name__c":"mielofibrosis primaria","Spanish_GARD_Synonym__c":"metaplasia mieloide agnogénica; mielofibrosis con metaplasia mieloide; mielofibrosis idiopática; osteomielofibrosis","Category_Linearization__c":"ORPHA:250908","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":"Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.","Curated_Disease_Description_Source__c":"GARD:0008618","GARD_Synonym__c":"agnogenic myeloid metaplasia; aleukemic myelosis; amm; bone marrow fibrosis; chronic idiopathic myelofibrosis; cimf; idiopathic bone marrow fibrosis; idiopathic myelofibrosis; megakaryocytic myelosclerosis; myelofibrosis as a result of myeloproliferative disease; myelofibrosis with myeloid metaplasia, somatic; myelofibrosis, somatic; myelosclerosis; myelosclerosis with myeloid metaplasia; osteomyelofibrosis","Name":"Primary myelofibrosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"MPN Research Foundation","Website__c":"https://www.mpnresearchfoundation.org/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:824"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0001815"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008618","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001815","Source__c":"C0001815","Xref__c":"C0001815"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4971","Source__c":"MONDO:0009692","Xref__c":"DOID:4971"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2862","Source__c":"C0001815; MONDO:0009692","Xref__c":"C2862"},{"URL__c":"https://www.orpha.net/en/disease/detail/824","Source__c":"C0001815; MONDO:0009692; ORPHA:824","Xref__c":"ORPHA:824"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055728","Source__c":"C0001815; MONDO:0009692","Xref__c":"D055728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7929","Source__c":"C0001815","Xref__c":"MEDGEN:7929"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=307651005","Source__c":"C0001815","Xref__c":"307651005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009692","Source__c":"GARD:0008618","Xref__c":"MONDO:0009692"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-myelofibrosis","Source__c":"GARD:0008618","Xref__c":"https://medlineplus.gov/genetics/condition/primary-myelofibrosis"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128843003","Source__c":"C0001815","Xref__c":"128843003"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D47.4","Source__c":"MONDO:0009692","Xref__c":"D47.4"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CALR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/calr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"JAK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jak2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SH2B3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MPL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mpl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","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:824","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:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025142","HPO_Name__c":"Constitutional symptom","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","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:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild fever that does not exceed 38.5 degrees centigrade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011134","HPO_Synonym__c":"Low-grade fever; Mild fever","HPO_Name__c":"Low-grade fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031020","HPO_Synonym__c":"Myeloid hyperplasia","HPO_Name__c":"Bone marrow hypercellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012143","HPO_Synonym__c":"Abnormality of cells of the megakaryocyte lineage","HPO_Name__c":"Abnormal megakaryocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","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:824","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030157","HPO_Synonym__c":"Flank pain","HPO_Name__c":"Flank pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Frequent (30-79%)","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:824","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004377","HPO_Name__c":"Hematological neoplasm","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","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:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001978","HPO_Name__c":"Extramedullary hematopoiesis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:824","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["agnogenic myeloid metaplasia"," aleukemic myelosis"," amm"," bone marrow fibrosis"," chronic idiopathic myelofibrosis"," cimf"," idiopathic bone marrow fibrosis"," idiopathic myelofibrosis"," megakaryocytic myelosclerosis"," myelofibrosis as a result of myeloproliferative disease"," myelofibrosis with myeloid metaplasia, somatic"," myelofibrosis, somatic"," myelosclerosis"," myelosclerosis with myeloid metaplasia"," osteomyelofibrosis"],"spanishId":13302,"spanishName":"mielofibrosis"}