{"Name":"Distal trisomy 1p36","DiseaseID__c":"GARD:0019303","id":19303,"encodedName":"distal-trisomy-1p36","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 1p36","Xref_IDs__c":"766053003; C4707665; MEDGEN:1646544; MONDO:0019870; ORPHA:96069","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:0019870","Disease_Description__c":"Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.","GARD_Name__c":"Distal trisomy 1p36","GARD_Synonym__c":"distal duplication 1p36; distal trisomy 1p36 syndrome; distal trisomy type 1p36; telomeric duplication 1p36; trisomy 1pter","Curated_Disease_Description_Source__c":"MONDO:0019870","Curated_Disease_Description__c":"Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:96069","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019870","ORPHANET_ID__c":"ORPHA:96069","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 1p36","Spanish_Description_Source__c":"ORPHA:96069","Spanish_Description__c":"Es un síndrome de anomalías cromosómicas poco frecuente resultante de la duplicación parcial del brazo corto del cromosoma 1. Está caracterizada por discapacidad intelectual de leve a límite, leve retraso en el desarrollo, craneosinostosis metópica y leve dismorfia craneofacial (incluyendo frente prominente, estrechamiento temporal y blefarofimosis). Otras anomalías asociadas pueden incluir retraso en el crecimiento, microcefalia, manos grandes, sindactilia, costillas supernumerarias, estenosis rectal y/o desplazamiento anterior del ano. También se han descrito malformaciones cardíacas congénitas (p. ej., defecto septal atrial, conducto arterioso persistente).","Spanish_Disease_Name__c":"síndrome de duplicación terminal 1p36","Spanish_GARD_Synonym__c":"trisomía 1pter; trisomía terminal 1p36","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 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019870","GARD_Synonym__c":"distal duplication 1p36; distal trisomy 1p36 syndrome; distal trisomy type 1p36; telomeric duplication 1p36; trisomy 1pter","Name":"Distal trisomy 1p36","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":"Infancy","Provided_By__c":"ORPHA:96069"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96069"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707665","Source__c":"C4707665","Xref__c":"C4707665"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1646544","Source__c":"C4707665","Xref__c":"MEDGEN:1646544"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766053003","Source__c":"C4707665; MONDO:0019870","Xref__c":"766053003"},{"URL__c":"https://www.orpha.net/en/disease/detail/96069","Source__c":"C4707665; MONDO:0019870; ORPHA:96069","Xref__c":"ORPHA:96069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019870","Source__c":"GARD:0019303","Xref__c":"MONDO:0019870"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 1p36"," distal trisomy 1p36 syndrome"," distal trisomy type 1p36"," telomeric duplication 1p36"," trisomy 1pter"]}