{"Name":"Distal trisomy 13q","DiseaseID__c":"GARD:0019319","id":19319,"encodedName":"distal-trisomy-13q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 13q","Xref_IDs__c":"764454003; C4706933; MEDGEN:1639680; MONDO:0019886; ORPHA:96105","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:0019886","Disease_Description__c":"Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.","GARD_Name__c":"Distal trisomy 13q","GARD_Synonym__c":"distal duplication 13q; distal trisomy type 13q; telomeric duplication 13q; trisomy 13qter","Curated_Disease_Description_Source__c":"MONDO:0019886","Curated_Disease_Description__c":"Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, 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:96105","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019886","ORPHANET_ID__c":"ORPHA:96105","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 13q","Spanish_Description_Source__c":"ORPHA:96105","Spanish_Description__c":"La trisomía terminal 13q es una anomalía cromosómica poco frecuente resultante de la duplicación parcial del brazo largo del cromosoma 13, con un fenotipo variable caracterizado principalmente por discapacidad intelectual, retraso psicomotor, dismorfia craneofacial (incluyendo microcefalia, cejas pobladas, pestañas largas y rizadas, hipotelorismo, orejas de baja implantación, puente nasal prominente, surco nasolabial largo, paladar alto, labio superior delgado), cuello corto, polidactilia y hemangiomas. También se han descrito defectos cardíacos, urogenitales y del tubo neural, así como hernias umbilicales e inguinales, convulsiones e hipotonía.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 13q","Spanish_GARD_Synonym__c":"trisomía 13qter; trisomía terminal 13q","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 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019886","GARD_Synonym__c":"distal duplication 13q; distal trisomy type 13q; telomeric duplication 13q; trisomy 13qter","Name":"Distal trisomy 13q","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:96105"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96105"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1639680","Source__c":"C4706933","Xref__c":"MEDGEN:1639680"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764454003","Source__c":"C4706933; MONDO:0019886","Xref__c":"764454003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706933","Source__c":"C4706933","Xref__c":"C4706933"},{"URL__c":"https://www.orpha.net/en/disease/detail/96105","Source__c":"C4706933; MONDO:0019886; ORPHA:96105","Xref__c":"ORPHA:96105"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019886","Source__c":"GARD:0019319","Xref__c":"MONDO:0019886"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 13q"," distal trisomy type 13q"," telomeric duplication 13q"," trisomy 13qter"]}