{"Name":"Acute promyelocytic leukemia","DiseaseID__c":"GARD:0000538","id":538,"encodedName":"acute-promyelocytic-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Acute promyelocytic leukemia","Xref_IDs__c":"110004001; C0023487; C208352; C3182; C92.4; D015473; DOID:0060318; DOID:0081081; HP:0004836; MEDGEN:44127; MONDO:0012883; OMIM:612376; ORPHA:520","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","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":4,"Description_Source__c":"MONDO:0012883","Disease_Description__c":"An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.","GARD_Name__c":"Acute promyelocytic leukemia","GARD_Synonym__c":"acute myeloblastic leukaemia 3; acute myeloblastic leukaemia type 3; acute myeloblastic leukemia 3; acute myeloblastic leukemia type 3; acute myeloid leukaemia m3; acute myeloid leukaemia with t(15;17)(q22;q12);(pml/raralpha) and variants; acute myeloid leukemia m3; acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants; acute promyelocytic leukaemia; acute promyelocytic leukaemia with pml-rara; acute promyelocytic leukaemia with t(15;17)(q22;q12); pml-rara; acute promyelocytic leukaemia with t(15;17)(q22;q12); pml/rara; acute promyelocytic leukemia (clinical); acute promyelocytic leukemia with pml-rara; acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara; acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara; acute promyelocytic leukemia, fab m3; aml m3; aml with t(15;17)(q22;q12); aml with t(15;17)(q22;q12);(pml/raralpha) and variants; apl; apl - acute promyelocytic leukemia; apml; apml - acute promyelocytic leukaemia; apml - acute promyelocytic leukemia; fab m3; leukemia, acute promyelocytic, somatic; m3 - acute promyelocytic leukemia; promyelocytic leukaemia; promyelocytic leukemia","Curated_Disease_Description_Source__c":"GARD:0000538","Curated_Disease_Description__c":"Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition. People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding. The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss. Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:520","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012883","ORPHANET_ID__c":"ORPHA:520","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia promielocítica aguda","Spanish_Description_Source__c":"ORPHA:520","Spanish_Description__c":"Es una forma agresiva de leucemia mieloide aguda (LMA) caracterizada por un parada de la diferenciación de los leucocitos en el estadio promielocítico debido a una translocación cromosómica específica t (15; 17) en las células mieloides. Se manifiesta como propensión a hematomas, diátesis hemorrágica y fatiga.","Spanish_Disease_Name__c":"leucemia promielocítica aguda","Spanish_GARD_Synonym__c":"leucemia aguda mieloide con t(15;17)(q22;q12);(pml/raralpha) y variantes; leucemia mieloblástica aguda tipo 3; leucemia mieloide aguda con t(15;17)(q22;q12);(pml/raralpha) y variantes; lma con t(15;17)(q22;q12);(pml/raralpha) y variantes; lma m3; lpa","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":"Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition. People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding. The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss. Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.","Curated_Disease_Description_Source__c":"GARD:0000538","GARD_Synonym__c":"acute myeloblastic leukaemia 3; acute myeloblastic leukaemia type 3; acute myeloblastic leukemia 3; acute myeloblastic leukemia type 3; acute myeloid leukaemia m3; acute myeloid leukaemia with t(15;17)(q22;q12);(pml/raralpha) and variants; acute myeloid leukemia m3; acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants; acute promyelocytic leukaemia; acute promyelocytic leukaemia with pml-rara; acute promyelocytic leukaemia with t(15;17)(q22;q12); pml-rara; acute promyelocytic leukaemia with t(15;17)(q22;q12); pml/rara; acute promyelocytic leukemia (clinical); acute promyelocytic leukemia with pml-rara; acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara; acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara; acute promyelocytic leukemia, fab m3; aml m3; aml with t(15;17)(q22;q12); aml with t(15;17)(q22;q12);(pml/raralpha) and variants; apl; apl - acute promyelocytic leukemia; apml; apml - acute promyelocytic leukaemia; apml - acute promyelocytic leukemia; fab m3; leukemia, acute promyelocytic, somatic; m3 - acute promyelocytic leukemia; promyelocytic leukaemia; promyelocytic leukemia","Name":"Acute promyelocytic leukemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Leukaemia Foundation","Website__c":"https://www.leukaemia.org.au/"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:520"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:520"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:520"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:520"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023487"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000538","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015473","Source__c":"C0023487; MONDO:0012883","Xref__c":"D015473"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060318","Source__c":"MONDO:0012883","Xref__c":"DOID:0060318"},{"URL__c":"https://www.orpha.net/en/disease/detail/520","Source__c":"C0023487; MONDO:0012883; ORPHA:520","Xref__c":"ORPHA:520"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44127","Source__c":"C0023487","Xref__c":"MEDGEN:44127"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=110004001","Source__c":"C0023487; MONDO:0012883","Xref__c":"110004001"},{"URL__c":"https://www.omim.org/entry/612376","Source__c":"C0023487; MONDO:0012883; ORPHA:520","Xref__c":"OMIM:612376"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3182","Source__c":"MONDO:0012883","Xref__c":"C3182"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081081","Source__c":"MONDO:0012883","Xref__c":"DOID:0081081"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023487","Source__c":"C0023487","Xref__c":"C0023487"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012883","Source__c":"GARD:0000538","Xref__c":"MONDO:0012883"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C92.4","Source__c":"MONDO:0012883","Xref__c":"C92.4"},{"URL__c":"https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia","Source__c":"GARD:0000538","Xref__c":"https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004836","Source__c":"C0023487","Xref__c":"HP:0004836"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C208352","Source__c":"C0023487","Xref__c":"C208352"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RARA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rara","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005521","HPO_Name__c":"Disseminated intravascular coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","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:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030955","HPO_Synonym__c":"Alcohol addiction; Alcoholism","HPO_Name__c":"Addictive alcohol use","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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:520","HPO_Frequency__c":"Frequent (30-79%)","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:520","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:520","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 bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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:520","HPO_Frequency__c":"Frequent (30-79%)","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:520","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:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011900","HPO_Synonym__c":"Low fibrinogen activity; Low fibrinogen level","HPO_Name__c":"Hypofibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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:520","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:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010280","HPO_Synonym__c":"Inflammation of the mouth","HPO_Name__c":"Stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent or excessive bleeding from the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030140","HPO_Synonym__c":"Bleeding from mouth; Oral cavity bleeding; Oral cavity hemorrhage","HPO_Name__c":"Oral cavity bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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 abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","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"}},{"Provided_By__c":"ORPHA:520","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:520","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","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:520","HPO_Frequency__c":"Frequent (30-79%)","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:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Occasional (5-29%)","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:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cough that produces phlegm or mucus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031245","HPO_Synonym__c":"Cough with mucus production; Wet cough","HPO_Name__c":"Productive cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:520","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute myeloblastic leukaemia 3"," acute myeloblastic leukaemia type 3"," acute myeloblastic leukemia 3"," acute myeloblastic leukemia type 3"," acute myeloid leukaemia m3"," acute myeloid leukaemia with t(15","17)(q22","q12)","(pml/raralpha) and variants"," acute myeloid leukemia m3"," acute myeloid leukemia with t(15","17)(q22","q12)","(pml/raralpha) and variants"," acute promyelocytic leukaemia"," acute promyelocytic leukaemia with pml-rara"," acute promyelocytic leukaemia with t(15","17)(q22","q12)"," pml-rara"," acute promyelocytic leukaemia with t(15","17)(q22","q12)"," pml/rara"," acute promyelocytic leukemia (clinical)"," acute promyelocytic leukemia with pml-rara"," acute promyelocytic leukemia with t(15","17)(q22","q12)"," pml-rara"," acute promyelocytic leukemia with t(15","17)(q22","q12)"," pml/rara"," acute promyelocytic leukemia, fab m3"," aml m3"," aml with t(15","17)(q22","q12)"," aml with t(15","17)(q22","q12)","(pml/raralpha) and variants"," apl"," apl - acute promyelocytic leukemia"," apml"," apml - acute promyelocytic leukaemia"," apml - acute promyelocytic leukemia"," fab m3"," leukemia, acute promyelocytic, somatic"," m3 - acute promyelocytic leukemia"," promyelocytic leukaemia"," promyelocytic leukemia"]}