{"Name":"Chromosome 16 trisomy","DiseaseID__c":"GARD:0007060","id":7060,"encodedName":"chromosome-16-trisomy","IsDeleted":false,"Disease_Name_Full__c":"Chromosome 16 trisomy","Xref_IDs__c":"C1519651; C37866; MEDGEN:276900; MONDO:0022180","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Chromosome 16 trisomy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare chromosomal disease occurs when a person has three copies of chromosome 16 instead of the usual two copies in their body's cells. This means there is extra genetic material from chromosome 16 present in the body. Babies with full trisomy 16 are almost always lost in very early pregnancy; it is a common cause of miscarriage. Symptoms vary and are very difficult to predict, but some babies with this disease are born smaller than normal and can have a heart defect.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0022180","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare chromosomal disease occurs when a person has three copies of chromosome 16 instead of the usual two copies in their body's cells. This means there is extra genetic material from chromosome 16 present in the body. Babies with full trisomy 16 are almost always lost in very early pregnancy; it is a common cause of miscarriage. Symptoms vary and are very difficult to predict, but some babies with this disease are born smaller than normal and can have a heart defect.","Name":"Chromosome 16 trisomy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Disorders of Chromosome 16 Foundation","Website__c":"http://www.trisomy16.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1519651","Source__c":"C1519651","Xref__c":"C1519651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=276900","Source__c":"C1519651","Xref__c":"MEDGEN:276900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022180","Source__c":"GARD:0007060","Xref__c":"MONDO:0022180"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C37866","Source__c":"C1519651","Xref__c":"C37866"}],"tags":{},"synonyms":[""]}