{"Name":"Distal trisomy 20q","DiseaseID__c":"GARD:0019321","id":19321,"encodedName":"distal-trisomy-20q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 20q","Xref_IDs__c":"764500002; C4706935; MEDGEN:1636588; MONDO:0019888; ORPHA:96107","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:0019888","Disease_Description__c":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.","GARD_Name__c":"Distal trisomy 20q","GARD_Synonym__c":"distal duplication 20q; distal trisomy 20q syndrome; distal trisomy type 20q; telomeric duplication 20q; trisomy 20qter","Curated_Disease_Description_Source__c":"MONDO:0019888","Curated_Disease_Description__c":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.","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:96107","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019888","ORPHANET_ID__c":"ORPHA:96107","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 20q","Spanish_Description_Source__c":"ORPHA:96107","Spanish_Description__c":"La trisomía terminal 20q es un síndrome por anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 20, con una gran variabilidad fenotípica caracterizada fundamentalmente por retraso del desarrollo neurológico, malformaciones cardíacas (p. ej., defecto septal ventricular, coartación de la aorta) y dismorfia facial (incl. frente grande/alta, microftalmia, fisuras palpebrales inclinadas hacia arriba, epicanto, orejas grandes, largas y de baja implantación, narinas antevertidas, labio superior prominente, labio leporino/paladar hendido, micro/retrognatia, hoyuelo en el mentón). También se han notificado anomalías esqueléticas (braquidactilia, escoliosis, pectus excavatum) y cerebrales.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 20q","Spanish_GARD_Synonym__c":"trisomía 20qter; trisomía terminal 20q","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":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019888","GARD_Synonym__c":"distal duplication 20q; distal trisomy 20q syndrome; distal trisomy type 20q; telomeric duplication 20q; trisomy 20qter","Name":"Distal trisomy 20q","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:96107"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96107"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96107","Source__c":"C4706935; MONDO:0019888; ORPHA:96107","Xref__c":"ORPHA:96107"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706935","Source__c":"C4706935","Xref__c":"C4706935"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764500002","Source__c":"C4706935; MONDO:0019888","Xref__c":"764500002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636588","Source__c":"C4706935","Xref__c":"MEDGEN:1636588"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019888","Source__c":"GARD:0019321","Xref__c":"MONDO:0019888"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 20q"," distal trisomy 20q syndrome"," distal trisomy type 20q"," telomeric duplication 20q"," trisomy 20qter"]}