{"Name":"Distal trisomy 2q","DiseaseID__c":"GARD:0019310","id":19310,"encodedName":"distal-trisomy-2q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 2q","Xref_IDs__c":"763272003; C4706361; MEDGEN:1634043; MONDO:0019877; ORPHA:96094","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:0019877","Disease_Description__c":"Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.","GARD_Name__c":"Distal trisomy 2q","GARD_Synonym__c":"distal duplication 2q; distal trisomy type 2q; telomeric duplication 2q; trisomy 2qter","Curated_Disease_Description_Source__c":"MONDO:0019877","Curated_Disease_Description__c":"Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.","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:96094","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019877","ORPHANET_ID__c":"ORPHA:96094","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 2q","Spanish_Description_Source__c":"ORPHA:96094","Spanish_Description__c":"La trisomía distal 2q es una anomalía cromosómica rara, resultante de la duplicación parcial del brazo largo del cromosoma 2. Se caracteriza por retraso psicomotor moderado, discapacidad intelectual leve, dismorfia facial (línea de implantación del cabello alta, frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia arriba, orejas grandes, de implantación baja y/o rotadas posteriormente, puente nasal ancho y deprimido, punta nasal prominente, labio superior delgado), clino/camptodactilia y medidas corporales normales o aumentadas. En ocasiones se pueden observar anomalías genitales (hipospadias, criptorquidia, escroto en chal) y talla baja.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 2q","Spanish_GARD_Synonym__c":"trisomía 2qter; trisomía terminal 2q","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 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.","Curated_Disease_Description_Source__c":"MONDO:0019877","GARD_Synonym__c":"distal duplication 2q; distal trisomy type 2q; telomeric duplication 2q; trisomy 2qter","Name":"Distal trisomy 2q","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:96094"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:96094"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1634043","Source__c":"C4706361","Xref__c":"MEDGEN:1634043"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763272003","Source__c":"C4706361; MONDO:0019877","Xref__c":"763272003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706361","Source__c":"C4706361","Xref__c":"C4706361"},{"URL__c":"https://www.orpha.net/en/disease/detail/96094","Source__c":"C4706361; MONDO:0019877; ORPHA:96094","Xref__c":"ORPHA:96094"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019877","Source__c":"GARD:0019310","Xref__c":"MONDO:0019877"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 2q"," distal trisomy type 2q"," telomeric duplication 2q"," trisomy 2qter"]}