{"Name":"Mosaic trisomy 5","DiseaseID__c":"GARD:0019301","id":19301,"encodedName":"mosaic-trisomy-5","IsDeleted":false,"Disease_Name_Full__c":"Mosaic trisomy 5","Xref_IDs__c":"764629008; C2931603; C537762; MEDGEN:419849; MONDO:0019866; ORPHA:96060","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019866","Disease_Description__c":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.","GARD_Name__c":"Mosaic trisomy 5","GARD_Synonym__c":"mosaic trisomy 5 syndrome; mosaic trisomy chromosome 5; mosaic trisomy type 5; trisomy 5 mosaicism","Curated_Disease_Description_Source__c":"MONDO:0019866","Curated_Disease_Description__c":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.","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:96060","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019866","ORPHANET_ID__c":"ORPHA:96060","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trisomía 5 en mosaico","Spanish_Description_Source__c":"ORPHA:96060","Spanish_Description__c":"La trisomía 5 en mosaico es una anomalía cromosómica poco frecuente que presenta un fenotipo muy variable, que puede ir desde individuos clínicamente normales, a otros que presentan retraso del crecimiento intrauterino, anomalías cardíacas congénitas (principalmente defecto septal ventricular), características dismórficas múltiples (por ejemplo, hipertelorismo, puente nasal prominente) y otras anomalías congénitas (incluye eventración diafragmática, agenesia del cuerpo calloso, cráneo en forma de trébol, clinodactilia, ano anterior). El desarrollo psicomotor puede ser normal a pesar de estar asociado a parámetros indicativos de crecimiento lento.","Spanish_Disease_Name__c":"síndrome de trisomía 5 en mosaico","Spanish_GARD_Synonym__c":"trisomía del cromosoma 5 en mosaico","Category_Linearization__c":"ORPHA:93890","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":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.","Curated_Disease_Description_Source__c":"MONDO:0019866","GARD_Synonym__c":"mosaic trisomy 5 syndrome; mosaic trisomy chromosome 5; mosaic trisomy type 5; trisomy 5 mosaicism","Name":"Mosaic trisomy 5","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/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96060"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96060"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931603","Source__c":"C2931603","Xref__c":"C2931603"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419849","Source__c":"C2931603","Xref__c":"MEDGEN:419849"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764629008","Source__c":"C2931603; MONDO:0019866","Xref__c":"764629008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537762","Source__c":"MONDO:0019866","Xref__c":"C537762"},{"URL__c":"https://www.orpha.net/en/disease/detail/96060","Source__c":"C2931603; MONDO:0019866; ORPHA:96060","Xref__c":"ORPHA:96060"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019866","Source__c":"GARD:0019301","Xref__c":"MONDO:0019866"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["mosaic trisomy 5 syndrome"," mosaic trisomy chromosome 5"," mosaic trisomy type 5"," trisomy 5 mosaicism"]}