{"Name":"Distal trisomy 3p","DiseaseID__c":"GARD:0019305","id":19305,"encodedName":"distal-trisomy-3p","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 3p","Xref_IDs__c":"764519007; C4706938; MEDGEN:1637379; MONDO:0019872; ORPHA:96071","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:0019872","Disease_Description__c":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","GARD_Name__c":"Distal trisomy 3p","GARD_Synonym__c":"distal duplication 3p; distal trisomy type 3p; telomeric duplication 3p; trisomy 3pter","Curated_Disease_Description_Source__c":"MONDO:0019872","Curated_Disease_Description__c":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","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:96071","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019872","ORPHANET_ID__c":"ORPHA:96071","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 3p","Spanish_Description_Source__c":"ORPHA:96071","Spanish_Description__c":"La trisomía terminal 3p es un síndrome de anomalías cromosómicas poco frecuente, que resulta de la duplicación parcial del brazo corto del cromosoma 3, con un fenotipo altamente variable caracterizado principalmente por dismorfia craneofacial (incl. braqui/microcefalia, facies cuadrada, frente prominente, indentación bitemporal, hipertelorismo/telecanto, orejas de baja implantación y/o dismórficas, nariz corta con puente nasal ancho y plano, mejillas y surco nasolabial prominentes, comisuras de los labios inclinadas hacia abajo, micrognatia/retrognatia, cuello corto) asociado con retraso psicomotor, discapacidad intelectual de moderada a grave, anomalías cardiacas (p. ej., conducto arterioso persistente) y urogenitales (p. ej., hipoplasia renal, hipogenitalismo), así como convulsiones y presencia de remolinos en los dedos de la mano.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 3p","Spanish_GARD_Synonym__c":"trisomía 3pter; trisomía terminal 3p","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 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","Curated_Disease_Description_Source__c":"MONDO:0019872","GARD_Synonym__c":"distal duplication 3p; distal trisomy type 3p; telomeric duplication 3p; trisomy 3pter","Name":"Distal trisomy 3p","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":"Antenatal","Provided_By__c":"ORPHA:96071"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96071"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706938","Source__c":"C4706938","Xref__c":"C4706938"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637379","Source__c":"C4706938","Xref__c":"MEDGEN:1637379"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764519007","Source__c":"C4706938; MONDO:0019872","Xref__c":"764519007"},{"URL__c":"https://www.orpha.net/en/disease/detail/96071","Source__c":"C4706938; MONDO:0019872; ORPHA:96071","Xref__c":"ORPHA:96071"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019872","Source__c":"GARD:0019305","Xref__c":"MONDO:0019872"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 3p"," distal trisomy type 3p"," telomeric duplication 3p"," trisomy 3pter"]}