{"Name":"Transient erythroblastopenia of childhood","DiseaseID__c":"GARD:0007793","id":7793,"encodedName":"transient-erythroblastopenia-of-childhood","IsDeleted":false,"Disease_Name_Full__c":"Transient erythroblastopenia of childhood","Xref_IDs__c":"191255003; 234375006; C0238478; C131683; C536980; MEDGEN:68670; MONDO:0009197; OMIM:227050; ORPHA:98871","USA_Estimate__c":null,"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":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:0009197","Disease_Description__c":"An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.","GARD_Name__c":"Transient erythroblastopenia of childhood","GARD_Synonym__c":"tec; tec - transient erythroblastopenia of childhood; transient acquired pure red cell aplasia","Curated_Disease_Description_Source__c":"MONDO:0009197","Curated_Disease_Description__c":"An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:98871","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009197","ORPHANET_ID__c":"ORPHA:98871","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritroblastopenia transitoria de la infancia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"eritroblastopenia transitoria de la infancia","Spanish_GARD_Synonym__c":"aplasia de glóbulos rojos pura adquirida transitoria","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":"An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.","Curated_Disease_Description_Source__c":"MONDO:0009197","GARD_Synonym__c":"tec; tec - transient erythroblastopenia of childhood; transient acquired pure red cell aplasia","Name":"Transient erythroblastopenia of childhood","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98871"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98871"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131683","Source__c":"C0238478; MONDO:0009197","Xref__c":"C131683"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191255003","Source__c":"MONDO:0009197","Xref__c":"191255003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238478","Source__c":"C0238478","Xref__c":"C0238478"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536980","Source__c":"MONDO:0009197","Xref__c":"C536980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=68670","Source__c":"C0238478","Xref__c":"MEDGEN:68670"},{"URL__c":"https://www.orpha.net/en/disease/detail/98871","Source__c":"C0238478; MONDO:0009197; ORPHA:98871","Xref__c":"ORPHA:98871"},{"URL__c":"https://www.omim.org/entry/227050","Source__c":"C0238478; MONDO:0009197; ORPHA:98871","Xref__c":"OMIM:227050"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009197","Source__c":"GARD:0007793","Xref__c":"MONDO:0009197"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234375006","Source__c":"C0238478","Xref__c":"234375006"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:227050","Feature__r":{"HPO_Description__c":"A transient reduction in the number of erythroblasts in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005510","HPO_Synonym__c":"Transient decrease in blood erythrocyte number","HPO_Name__c":"Transient erythroblastopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:227050","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"}}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology","Pediatrics"]},"synonyms":["tec"," tec - transient erythroblastopenia of childhood"," transient acquired pure red cell aplasia"]}