{"Name":"3q26 microduplication syndrome","DiseaseID__c":"GARD:0019311","id":19311,"encodedName":"3q26-microduplication-syndrome","IsDeleted":false,"Disease_Name_Full__c":"3q26 microduplication syndrome","Xref_IDs__c":"778073001; C4755319; MEDGEN:1670584; MONDO:0019878; ORPHA:96095","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019878","Disease_Description__c":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.","GARD_Name__c":"3q26 microduplication syndrome","GARD_Synonym__c":"cornelia de lange-like syndrome; dup(3)(q26); dup(3q) syndrome; trisomy 3q26","Curated_Disease_Description_Source__c":"ORPHA:96095","Curated_Disease_Description__c":"3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96095","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019878","ORPHANET_ID__c":"ORPHA:96095","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microduplicación 3q26","Spanish_Description_Source__c":"ORPHA:96095","Spanish_Description__c":"El síndrome de microduplicación 3q26, es una anomalía cromosómica poco frecuente caracterizada por retraso del crecimiento pre- y postnatal, retraso del desarrollo, discapacidad intelectual, signos dismórficos y combinación variable de anomalías congénitas, que incluyen anomalías cardiovasculares, genitourinarias y esqueléticas y un espectro de malformaciones caudales.","Spanish_Disease_Name__c":"síndrome de microduplicación 3q26","Spanish_GARD_Synonym__c":"dup(3)(q26); síndrome dup(3q); trisomía 3q26","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":"3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.","Curated_Disease_Description_Source__c":"ORPHA:96095","GARD_Synonym__c":"cornelia de lange-like syndrome; dup(3)(q26); dup(3q) syndrome; trisomy 3q26","Name":"3q26 microduplication syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96095"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96095"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96095","Source__c":"C4755319; MONDO:0019878; ORPHA:96095","Xref__c":"ORPHA:96095"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755319","Source__c":"C4755319","Xref__c":"C4755319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1670584","Source__c":"C4755319","Xref__c":"MEDGEN:1670584"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019878","Source__c":"GARD:0019311","Xref__c":"MONDO:0019878"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778073001","Source__c":"C4755319","Xref__c":"778073001"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cornelia de lange-like syndrome"," dup(3)(q26)"," dup(3q) syndrome"," trisomy 3q26"]}