{"Name":"Myelodysplastic syndrome","DiseaseID__c":"GARD:0007132","id":7132,"encodedName":"myelodysplastic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Myelodysplastic syndrome","Xref_IDs__c":"109995007; C3247; C3463824; D46; DOID:0050908; MEDGEN:483005; MONDO:0018881; OMIM:614286; ORPHA:52688","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":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018881","Disease_Description__c":"A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)","GARD_Name__c":"Myelodysplastic syndrome","GARD_Synonym__c":"dysmyelopoietic syndrome; hematopoeitic - myelodysplastic syndrome (mds); mds; mds - myelodysplastic syndrome; mds-u; mds, unclassifiable; myelodysplasia; myelodysplastic neoplasm; myelodysplastic syndrome (clinical); myelodysplastic syndrome, somatic; myelodysplastic syndrome, susceptibility to; myelodysplastic syndrome, susceptibility, gata2-related; myelodysplastic syndrome, unclassifiable; myelodysplastic syndrome/neoplasm; myelodysplastic syndromes; oligoblastic leukaemia; oligoblastic leukemia; preleukemia; smoldering leukemia; smouldering leukaemia","Curated_Disease_Description_Source__c":"GARD:0007132","Curated_Disease_Description__c":"Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia. MDS develops when a cell with a genetic change replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The genetic change may result from a genetic predisposition, or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:52688","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018881","ORPHANET_ID__c":"ORPHA:52688","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mielodisplásico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome mielodisplásico","Spanish_GARD_Synonym__c":null,"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":"Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia. MDS develops when a cell with a genetic change replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The genetic change may result from a genetic predisposition, or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause.","Curated_Disease_Description_Source__c":"GARD:0007132","GARD_Synonym__c":"dysmyelopoietic syndrome; hematopoeitic - myelodysplastic syndrome (mds); mds; mds - myelodysplastic syndrome; mds-u; mds, unclassifiable; myelodysplasia; myelodysplastic neoplasm; myelodysplastic syndrome (clinical); myelodysplastic syndrome, somatic; myelodysplastic syndrome, susceptibility to; myelodysplastic syndrome, susceptibility, gata2-related; myelodysplastic syndrome, unclassifiable; myelodysplastic syndrome/neoplasm; myelodysplastic syndromes; oligoblastic leukaemia; oligoblastic leukemia; preleukemia; smoldering leukemia; smouldering leukaemia","Name":"Myelodysplastic syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"The MDS Foundation","Website__c":"https://www.mds-foundation.org/"},{"Account_Name__c":"Aplastic Anemia and Myelodysplasia Association of Canada","Website__c":"https://www.aamac.ca/"}],"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":"All ages","Provided_By__c":"ORPHA:52688"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0026985"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3463824"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109995007","Source__c":"C3463824; MONDO:0018881","Xref__c":"109995007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483005","Source__c":"C3463824","Xref__c":"MEDGEN:483005"},{"URL__c":"https://www.orpha.net/en/disease/detail/52688","Source__c":"C3463824; MONDO:0018881; ORPHA:52688","Xref__c":"ORPHA:52688"},{"URL__c":"https://www.omim.org/entry/614286","Source__c":"C3463824; MONDO:0018881; ORPHA:52688","Xref__c":"OMIM:614286"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3247","Source__c":"C3463824; MONDO:0018881","Xref__c":"C3247"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050908","Source__c":"MONDO:0018881","Xref__c":"DOID:0050908"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3463824","Source__c":"C3463824","Xref__c":"C3463824"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018881","Source__c":"GARD:0007132","Xref__c":"MONDO:0018881"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128623006","Source__c":"C3463824","Xref__c":"128623006"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D46","Source__c":"MONDO:0018881","Xref__c":"D46"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009190","Source__c":"C3463824","Xref__c":"D009190"},{"URL__c":"https://www.niddk.nih.gov/health-information/blood-diseases/aplastic-anemia-myelodysplastic-syndromes"},{"URL__c":"https://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq"},{"URL__c":"https://medlineplus.gov/myelodysplasticsyndromes.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SF3B1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TET2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tet2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ASXL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/asxl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GNB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614286","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["dysmyelopoietic syndrome"," hematopoeitic - myelodysplastic syndrome (mds)"," mds"," mds - myelodysplastic syndrome"," mds-u"," mds, unclassifiable"," myelodysplasia"," myelodysplastic neoplasm"," myelodysplastic syndrome (clinical)"," myelodysplastic syndrome, somatic"," myelodysplastic syndrome, susceptibility to"," myelodysplastic syndrome, susceptibility, gata2-related"," myelodysplastic syndrome, unclassifiable"," myelodysplastic syndrome/neoplasm"," myelodysplastic syndromes"," oligoblastic leukaemia"," oligoblastic leukemia"," preleukemia"," smoldering leukemia"," smouldering leukaemia"],"spanishId":13581,"spanishName":"sindromes-mielodisplasicos"}