{"Name":"Hemoglobinopathy Toms River","DiseaseID__c":"GARD:0017297","id":17297,"encodedName":"hemoglobinopathy-toms-river","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobinopathy Toms River","Xref_IDs__c":"782880001; C5190689; MEDGEN:1683555; MONDO:0017238; ORPHA:280615","USA_Estimate__c":"1,000","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":"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:280615","Disease_Description__c":"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.","GARD_Name__c":"Hemoglobinopathy Toms River","GARD_Synonym__c":"transient neonatal cyanosis and anaemia due to toms river haemoglobin; transient neonatal cyanosis and anemia due to toms river hemoglobin","Curated_Disease_Description_Source__c":"ORPHA:280615","Curated_Disease_Description__c":"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:280615","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017238","ORPHANET_ID__c":"ORPHA:280615","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemoglobinopatía toms river","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hemoglobinopatía toms river","Spanish_GARD_Synonym__c":"cianosis neonatal transitoria y anemia por hemoglobina toms river","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":"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.","Curated_Disease_Description_Source__c":"ORPHA:280615","GARD_Synonym__c":"transient neonatal cyanosis and anaemia due to toms river haemoglobin; transient neonatal cyanosis and anemia due to toms river hemoglobin","Name":"Hemoglobinopathy Toms River","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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:280615"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:280615"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/280615","Source__c":"C5190689; MONDO:0017238; ORPHA:280615","Xref__c":"ORPHA:280615"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190689","Source__c":"C5190689","Xref__c":"C5190689"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683555","Source__c":"C5190689","Xref__c":"MEDGEN:1683555"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017238","Source__c":"GARD:0017297","Xref__c":"MONDO:0017238"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782880001","Source__c":"C5190689","Xref__c":"782880001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["transient neonatal cyanosis and anaemia due to toms river haemoglobin"," transient neonatal cyanosis and anemia due to toms river hemoglobin"]}