{"Name":"Distal trisomy 7p","DiseaseID__c":"GARD:0019307","id":19307,"encodedName":"distal-trisomy-7p","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 7p","Xref_IDs__c":"763276000; C4706364; MEDGEN:1641655; MONDO:0019874; ORPHA:96074","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:0019874","Disease_Description__c":"Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.","GARD_Name__c":"Distal trisomy 7p","GARD_Synonym__c":"distal duplication 7p; distal trisomy 7p syndrome; distal trisomy type 7p; telomeric duplication 7p; trisomy 7pter","Curated_Disease_Description_Source__c":"MONDO:0019874","Curated_Disease_Description__c":"Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly 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:96074","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019874","ORPHANET_ID__c":"ORPHA:96074","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 7p","Spanish_Description_Source__c":"ORPHA:96074","Spanish_Description__c":"La trisomía terminal 7p es una anomalía cromosómica poco frecuente resultante de la duplicación parcial del brazo corto del cromosoma 7. Presenta un fenotipo altamente variable que se caracteriza típicamente por retraso psicomotor de grave a profundo, discapacidad intelectual, rasgos dismórficas (incluyendo dolicocefalia, microbraquicefalia, frente ancha y/o alta, fontanela anterior amplia, hipertelorismo, fisuras palpebrales descendentes, orejas displásicas de baja implantación, puente nasal bajo, ancho y prominente, paladar anómalo, micro- / retrognatia), e hipotonía. Comúnmente se han notificado anomalías cardiovasculares, gastrointestinales, esqueléticas y urogenitales.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 7p","Spanish_GARD_Synonym__c":"trisomía 7pter; trisomía terminal 7p","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 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.","Curated_Disease_Description_Source__c":"MONDO:0019874","GARD_Synonym__c":"distal duplication 7p; distal trisomy 7p syndrome; distal trisomy type 7p; telomeric duplication 7p; trisomy 7pter","Name":"Distal trisomy 7p","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:96074"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96074"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763276000","Source__c":"C4706364; MONDO:0019874","Xref__c":"763276000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641655","Source__c":"C4706364","Xref__c":"MEDGEN:1641655"},{"URL__c":"https://www.orpha.net/en/disease/detail/96074","Source__c":"C4706364; MONDO:0019874; ORPHA:96074","Xref__c":"ORPHA:96074"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706364","Source__c":"C4706364","Xref__c":"C4706364"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019874","Source__c":"GARD:0019307","Xref__c":"MONDO:0019874"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 7p"," distal trisomy 7p syndrome"," distal trisomy type 7p"," telomeric duplication 7p"," trisomy 7pter"]}