{"Name":"Acute panmyelosis with myelofibrosis","DiseaseID__c":"GARD:0011907","id":11907,"encodedName":"acute-panmyelosis-with-myelofibrosis","IsDeleted":false,"Disease_Name_Full__c":"Acute panmyelosis with myelofibrosis","Xref_IDs__c":"109991003; C0334674; C4344; C94.4; MEDGEN:87279; MONDO:0019455; ORPHA:86843","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019455","Disease_Description__c":"An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.","GARD_Name__c":"Acute panmyelosis with myelofibrosis","GARD_Synonym__c":"acute (malignant) myelofibrosis; acute (malignant) myelosclerosis; acute myelodysplasia with myelofibrosis; acute myelofibrosis; acute myelosclerosis; acute panmyelosis; apmf","Curated_Disease_Description_Source__c":"MONDO:0019455","Curated_Disease_Description__c":"An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:86843","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019455","ORPHANET_ID__c":"ORPHA:86843","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Panmielosis aguda con mielofibrosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"panmielosis aguda con mielofibrosis","Spanish_GARD_Synonym__c":"mielodisplasia aguda con mielofibrosis; mieloesclerosis aguda; mielofibrosis aguda","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":"An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.","Curated_Disease_Description_Source__c":"MONDO:0019455","GARD_Synonym__c":"acute (malignant) myelofibrosis; acute (malignant) myelosclerosis; acute myelodysplasia with myelofibrosis; acute myelofibrosis; acute myelosclerosis; acute panmyelosis; apmf","Name":"Acute panmyelosis with myelofibrosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:86843"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/86843","Source__c":"C0334674; MONDO:0019455; ORPHA:86843","Xref__c":"ORPHA:86843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334674","Source__c":"C0334674","Xref__c":"C0334674"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4344","Source__c":"C0334674; MONDO:0019455","Xref__c":"C4344"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109991003","Source__c":"C0334674; MONDO:0019455","Xref__c":"109991003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87279","Source__c":"C0334674","Xref__c":"MEDGEN:87279"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C94.4","Source__c":"MONDO:0019455","Xref__c":"C94.4"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019455","Source__c":"GARD:0011907","Xref__c":"MONDO:0019455"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004820","HPO_Name__c":"Acute myelomonocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012129","HPO_Name__c":"Abnormality of bone marrow stromal cells","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003419","HPO_Synonym__c":"Lower back pain; Lumbago","HPO_Name__c":"Low back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in the number or proportion of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100827","HPO_Synonym__c":"High lymphocyte count; Lymphocytosis","HPO_Name__c":"Increased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Very frequent (80-99%)","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:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","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:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031386","HPO_Name__c":"Increased micromegakaryocyte count","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Replacement of bone marrow by fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011974","HPO_Name__c":"Myelofibrosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031385","HPO_Name__c":"Megakaryocyte nucleus hypolobulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86843","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:86843","HPO_Frequency__c":"Uncommon (<1-4%)","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:86843","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute (malignant) myelofibrosis"," acute (malignant) myelosclerosis"," acute myelodysplasia with myelofibrosis"," acute myelofibrosis"," acute myelosclerosis"," acute panmyelosis"," apmf"]}