{"Name":"Distal trisomy 6q","DiseaseID__c":"GARD:0019314","id":19314,"encodedName":"distal-trisomy-6q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 6q","Xref_IDs__c":"763275001; C0795817; C537810; MEDGEN:162773; MONDO:0019881; ORPHA:96098","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:0019881","Disease_Description__c":"Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.","GARD_Name__c":"Distal trisomy 6q","GARD_Synonym__c":"chromosome 6, partial trisomy 6q; distal duplication 6q; distal trisomy type 6q; telomeric duplication 6q; trisomy 6qter","Curated_Disease_Description_Source__c":"MONDO:0019881","Curated_Disease_Description__c":"Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have 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:96098","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019881","ORPHANET_ID__c":"ORPHA:96098","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 6q","Spanish_Description_Source__c":"ORPHA:96098","Spanish_Description__c":"La trisomía terminal 6q es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo largo del cromosoma 6. Presenta un fenotipo muy variable, caracterizado típicamente por retraso del crecimiento y del desarrollo, discapacidad intelectual, dismorfia craneofacial (microcefalia, perfil facial plano, protuberancia frontal, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal plano, fosas nasales antevertidas, boca en arco de cupido, micrognatia), cuello corto con pterigium, y contracturas articulares. Otras características que se han descrito son anomalías cardíacas, urogenitales, oftalmológicas y de manos y pies, así como hernia umbilical, espasticidad y convulsiones.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 6q","Spanish_GARD_Synonym__c":"trisomía 6qter; trisomía terminal 6q","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 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.","Curated_Disease_Description_Source__c":"MONDO:0019881","GARD_Synonym__c":"chromosome 6, partial trisomy 6q; distal duplication 6q; distal trisomy type 6q; telomeric duplication 6q; trisomy 6qter","Name":"Distal trisomy 6q","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:96098"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96098"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763275001","Source__c":"C0795817; MONDO:0019881","Xref__c":"763275001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795817","Source__c":"C0795817","Xref__c":"C0795817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537810","Source__c":"MONDO:0019881","Xref__c":"C537810"},{"URL__c":"https://www.orpha.net/en/disease/detail/96098","Source__c":"C0795817; MONDO:0019881; ORPHA:96098","Xref__c":"ORPHA:96098"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162773","Source__c":"C0795817","Xref__c":"MEDGEN:162773"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019881","Source__c":"GARD:0019314","Xref__c":"MONDO:0019881"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["chromosome 6, partial trisomy 6q"," distal duplication 6q"," distal trisomy type 6q"," telomeric duplication 6q"," trisomy 6qter"]}