{"Name":"Transient myeloproliferative syndrome","DiseaseID__c":"GARD:0012765","id":12765,"encodedName":"transient-myeloproliferative-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Transient myeloproliferative syndrome","Xref_IDs__c":"721307000; C1834582; C563551; C82339; DOID:0060888; HP:0005534; MEDGEN:331782; MONDO:0008040; OMIM:159595; ORPHA:420611","USA_Estimate__c":null,"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":null,"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":2,"Description_Source__c":"MONDO:0008040","Disease_Description__c":"A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.","GARD_Name__c":"Transient myeloproliferative syndrome","GARD_Synonym__c":"leukemia, transient; leukemia, transient, of down syndrome; mst; tam; tmd; transient abnormal myelopoiesis; transient abnormal myelopoiesis associated with down syndrome; transient leukaemia; transient leukaemia of down syndrome; transient leukemia; transient leukemia of down syndrome; transient leurkemia of down syndrome; transient myeloproliferative disease; transient myeloproliferative disorder; transient myeloproliferative syndrome (disease)","Curated_Disease_Description_Source__c":"MONDO:0008040","Curated_Disease_Description__c":"A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:420611","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008040","ORPHANET_ID__c":"ORPHA:420611","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mieloproliferativo transitorio","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome mieloproliferativo transitorio","Spanish_GARD_Synonym__c":"enfermedad mieloproliferativa transitoria; mielopoyesis anómala transitoria; smt","Category_Linearization__c":"ORPHA:97992","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":"A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.","Curated_Disease_Description_Source__c":"MONDO:0008040","GARD_Synonym__c":"leukemia, transient; leukemia, transient, of down syndrome; mst; tam; tmd; transient abnormal myelopoiesis; transient abnormal myelopoiesis associated with down syndrome; transient leukaemia; transient leukaemia of down syndrome; transient leukemia; transient leukemia of down syndrome; transient leurkemia of down syndrome; transient myeloproliferative disease; transient myeloproliferative disorder; transient myeloproliferative syndrome (disease)","Name":"Transient myeloproliferative syndrome","estimateUsa":""}],"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":"Antenatal","Provided_By__c":"ORPHA:420611"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:420611"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012765","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563551","Source__c":"MONDO:0008040","Xref__c":"C563551"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331782","Source__c":"C1834582","Xref__c":"MEDGEN:331782"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834582","Source__c":"C1834582","Xref__c":"C1834582"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C82339","Source__c":"C1834582; MONDO:0008040","Xref__c":"C82339"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721307000","Source__c":"C1834582; MONDO:0008040","Xref__c":"721307000"},{"URL__c":"https://www.orpha.net/en/disease/detail/420611","Source__c":"C1834582; MONDO:0008040; ORPHA:420611","Xref__c":"ORPHA:420611"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060888","Source__c":"MONDO:0008040","Xref__c":"DOID:0060888"},{"URL__c":"https://www.omim.org/entry/159595","Source__c":"C1834582; MONDO:0008040; ORPHA:420611","Xref__c":"OMIM:159595"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=450934005","Source__c":"C1834582","Xref__c":"450934005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005534","Source__c":"C1834582","Xref__c":"HP:0005534"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008040","Source__c":"GARD:0012765","Xref__c":"MONDO:0008040"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gata1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:159595","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":"OMIM:159595","Feature__r":{"HPO_Description__c":"A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005534","HPO_Synonym__c":"TMD; Transient leukemia of Down syndrome; Transient myeloproliferative disorder","HPO_Name__c":"Transient myeloproliferative syndrome","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["leukemia, transient"," leukemia, transient, of down syndrome"," mst"," tam"," tmd"," transient abnormal myelopoiesis"," transient abnormal myelopoiesis associated with down syndrome"," transient leukaemia"," transient leukaemia of down syndrome"," transient leukemia"," transient leukemia of down syndrome"," transient leurkemia of down syndrome"," transient myeloproliferative disease"," transient myeloproliferative disorder"," transient myeloproliferative syndrome (disease)"]}