{"Name":"Distal trisomy 2p","DiseaseID__c":"GARD:0019304","id":19304,"encodedName":"distal-trisomy-2p","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 2p","Xref_IDs__c":"764518004; C185241; C4706937; MEDGEN:1646233; MONDO:0019871; ORPHA:96070","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":1,"Description_Source__c":"MONDO:0019871","Disease_Description__c":"Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.","GARD_Name__c":"Distal trisomy 2p","GARD_Synonym__c":"distal duplication 2p; distal trisomy type 2p; telomeric duplication 2p; trisomy 2pter","Curated_Disease_Description_Source__c":"MONDO:0019871","Curated_Disease_Description__c":"Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:96070","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019871","ORPHANET_ID__c":"ORPHA:96070","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 2p","Spanish_Description_Source__c":"ORPHA:96070","Spanish_Description__c":"La trisomía terminal 2p es un síndrome poco frecuente de anomalías cromosómicas, que resulta de la duplicación parcial del brazo corto del cromosoma 2, con un fenotipo altamente variable caracterizado principalmente por un fallo del crecimiento pre- y postnatal, retraso global del desarrollo, dismorfia facial (incl. frente alta/prominente, forma y/o posición anómalas del oído, hipertelorismo/telecanto, puente nasal ancho/deprimido) y anomalías oculares (p. ej., exoftalmos, hipopigmentación de la retina, hipoplasia foveal y de nervio óptico). Otras anomalías notificadas incluyen hipotonía generalizada, pectus excavatum, dedos de las manos y de los pies largos, sindactilia, defectos cardíacos congénitos (por ejemplo, defecto septal auricular y ventricular) y defectos del tubo neural, convulsiones, hipoplasia pulmonar, hernia diafragmática y anomalías urogenitales.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 2p","Spanish_GARD_Synonym__c":"trisomía 2pter; trisomía terminal 2p","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 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.","Curated_Disease_Description_Source__c":"MONDO:0019871","GARD_Synonym__c":"distal duplication 2p; distal trisomy type 2p; telomeric duplication 2p; trisomy 2pter","Name":"Distal trisomy 2p","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96070"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706937","Source__c":"C4706937","Xref__c":"C4706937"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1646233","Source__c":"C4706937","Xref__c":"MEDGEN:1646233"},{"URL__c":"https://www.orpha.net/en/disease/detail/96070","Source__c":"C4706937; MONDO:0019871; ORPHA:96070","Xref__c":"ORPHA:96070"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764518004","Source__c":"C4706937; MONDO:0019871","Xref__c":"764518004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019871","Source__c":"GARD:0019304","Xref__c":"MONDO:0019871"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C185241","Source__c":"C4706937","Xref__c":"C185241"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["distal duplication 2p"," distal trisomy type 2p"," telomeric duplication 2p"," trisomy 2pter"]}