{"Name":"Distal trisomy 10q","DiseaseID__c":"GARD:0019317","id":19317,"encodedName":"distal-trisomy-10q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 10q","Xref_IDs__c":"718689000; C2931728; C538087; MEDGEN:419480; MONDO:0019884; ORPHA:96102","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019884","Disease_Description__c":"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.","GARD_Name__c":"Distal trisomy 10q","GARD_Synonym__c":"chromosome 10, distal trisomy 10q; distal duplication 10q; distal trisomy type 10q; telomeric duplication 10q; trisomy 10qter","Curated_Disease_Description_Source__c":"MONDO:0019884","Curated_Disease_Description__c":"Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:96102","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019884","ORPHANET_ID__c":"ORPHA:96102","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 10q","Spanish_Description_Source__c":"ORPHA:96102","Spanish_Description__c":"La trisomía distal del brazo largo del cromosoma 10 (10q) se caracteriza por un retraso en el desarrollo pre- y postnatal, un patrón de hallazgos faciales específicos, hipotonía, y retraso psicomotor y del desarrollo.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 10q","Spanish_GARD_Synonym__c":"trisomía 10qter; trisomía terminal 10q","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 of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.","Curated_Disease_Description_Source__c":"MONDO:0019884","GARD_Synonym__c":"chromosome 10, distal trisomy 10q; distal duplication 10q; distal trisomy type 10q; telomeric duplication 10q; trisomy 10qter","Name":"Distal trisomy 10q","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":"Infancy","Provided_By__c":"ORPHA:96102"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96102"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718689000","Source__c":"C2931728; MONDO:0019884","Xref__c":"718689000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419480","Source__c":"C2931728","Xref__c":"MEDGEN:419480"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931728","Source__c":"C2931728","Xref__c":"C2931728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538087","Source__c":"MONDO:0019884","Xref__c":"C538087"},{"URL__c":"https://www.orpha.net/en/disease/detail/96102","Source__c":"C2931728; MONDO:0019884; ORPHA:96102","Xref__c":"ORPHA:96102"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019884","Source__c":"GARD:0019317","Xref__c":"MONDO:0019884"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["chromosome 10, distal trisomy 10q"," distal duplication 10q"," distal trisomy type 10q"," telomeric duplication 10q"," trisomy 10qter"]}