{"Name":"Distal trisomy 8q","DiseaseID__c":"GARD:0019315","id":19315,"encodedName":"distal-trisomy-8q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 8q","Xref_IDs__c":"763277009; C4706365; MEDGEN:1637956; MONDO:0019882; ORPHA:96100","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019882","Disease_Description__c":"Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).","GARD_Name__c":"Distal trisomy 8q","GARD_Synonym__c":"distal duplication 8q; distal trisomy type 8q; telomeric duplication 8q; trisomy 8qter","Curated_Disease_Description_Source__c":"MONDO:0019882","Curated_Disease_Description__c":"Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).","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:96100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019882","ORPHANET_ID__c":"ORPHA:96100","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 8q","Spanish_Description_Source__c":"ORPHA:96100","Spanish_Description__c":"La trisomía terminal 8q es una anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 8. Presenta un fenotipo muy variable caracterizado por retraso del crecimiento y del desarrollo, discapacidad intelectual, talla baja, dismorfia craneofacial (microcefalia, frente prominente, hipertelorismo, fisuras palpebrales anómalas, orejas grandes y de baja implantación, punta nasal antevertida, micro/retrognatia), defectos cardíacos congénitos y anomalías esqueléticas y de las extremidades. Otras características notificadas incluyen anomalías oftalmológicas (por ejemplo, megalocórnea), criptorquidia, hipertricosis y manifestaciones neurológicas (por ejemplo, hipotonía, pérdida auditiva y convulsiones).","Spanish_Disease_Name__c":"síndrome de duplicación terminal 8q","Spanish_GARD_Synonym__c":"trisomía 8qter; trisomía terminal 8q","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 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).","Curated_Disease_Description_Source__c":"MONDO:0019882","GARD_Synonym__c":"distal duplication 8q; distal trisomy type 8q; telomeric duplication 8q; trisomy 8qter","Name":"Distal trisomy 8q","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:96100"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96100"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763277009","Source__c":"C4706365; MONDO:0019882","Xref__c":"763277009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637956","Source__c":"C4706365","Xref__c":"MEDGEN:1637956"},{"URL__c":"https://www.orpha.net/en/disease/detail/96100","Source__c":"C4706365; MONDO:0019882; ORPHA:96100","Xref__c":"ORPHA:96100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706365","Source__c":"C4706365","Xref__c":"C4706365"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019882","Source__c":"GARD:0019315","Xref__c":"MONDO:0019882"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 8q"," distal trisomy type 8q"," telomeric duplication 8q"," trisomy 8qter"]}