{"Name":"Distal trisomy 19q","DiseaseID__c":"GARD:0018743","id":18743,"encodedName":"distal-trisomy-19q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 19q","Xref_IDs__c":"766052008; C4707664; MEDGEN:1646863; MONDO:0015744; ORPHA:1717","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:0015744","Disease_Description__c":"Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.","GARD_Name__c":"Distal trisomy 19q","GARD_Synonym__c":"distal duplication 19q; distal trisomy 19q syndrome; distal trisomy type 19q; telomeric duplication 19q; trisomy 19qter","Curated_Disease_Description_Source__c":"MONDO:0015744","Curated_Disease_Description__c":"Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.","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:1717","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015744","ORPHANET_ID__c":"ORPHA:1717","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 19q","Spanish_Description_Source__c":"ORPHA:1717","Spanish_Description__c":"Es un síndrome por anomalía cromosómica poco frecuente caracterizado por bajo peso al nacer, retraso en el desarrollo, discapacidad intelectual, talla baja, dismorfia craneofacial (incluyendo microcefalia, hipoplasia mediofacial, hipertelorismo, puente nasal plano, anomalías auriculares, filtrum corto, comisuras de la boca inclinadas hacia abajo, micrognatia) y cuello corto con pliegues cutáneos redundantes. Otros hallazgos adicionales pueden incluir hipotonía, anomalías esqueléticas (p. ej., clino / camptodactilia), convulsiones y malformaciones congénitas cardíacas, urogenitales y gastrointestinales.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 19q","Spanish_GARD_Synonym__c":"duplicación terminal 19q; trisomía 19qter; trisomía terminal 19q","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 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.","Curated_Disease_Description_Source__c":"MONDO:0015744","GARD_Synonym__c":"distal duplication 19q; distal trisomy 19q syndrome; distal trisomy type 19q; telomeric duplication 19q; trisomy 19qter","Name":"Distal trisomy 19q","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":"Neonatal","Provided_By__c":"ORPHA:1717"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1717"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766052008","Source__c":"C4707664; MONDO:0015744","Xref__c":"766052008"},{"URL__c":"https://www.orpha.net/en/disease/detail/1717","Source__c":"C4707664; MONDO:0015744; ORPHA:1717","Xref__c":"ORPHA:1717"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1646863","Source__c":"C4707664","Xref__c":"MEDGEN:1646863"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707664","Source__c":"C4707664","Xref__c":"C4707664"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015744","Source__c":"GARD:0018743","Xref__c":"MONDO:0015744"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 19q"," distal trisomy 19q syndrome"," distal trisomy type 19q"," telomeric duplication 19q"," trisomy 19qter"]}