{"Name":"Distal trisomy 9q","DiseaseID__c":"GARD:0019316","id":19316,"encodedName":"distal-trisomy-9q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 9q","Xref_IDs__c":"764520001; C4706939; MEDGEN:1645202; MONDO:0019883; ORPHA:96101","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:0019883","Disease_Description__c":"Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.","GARD_Name__c":"Distal trisomy 9q","GARD_Synonym__c":"distal duplication 9q; distal trisomy type 9q; telomeric duplication 9q; trisomy 9qter","Curated_Disease_Description_Source__c":"MONDO:0019883","Curated_Disease_Description__c":"Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.","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:96101","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019883","ORPHANET_ID__c":"ORPHA:96101","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 9q","Spanish_Description_Source__c":"ORPHA:96101","Spanish_Description__c":"La trisomía terminal 9q es una anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 9, con un fenotipo variable caracterizado principalmente por retraso psicomotor y del habla, discapacidad intelectual, hipotonía, constitución física delgada y alargada, dismorfia craneofacial (incluye micro/dolicocefalia, asimetría facial, fisuras palpebrales estrechas, ojos hundidos, estrabismo, microftalmía, orejas con formas anómalas, microstomia, micro/retrognatia) y anomalías en manos y pies (que incluyen aracnodactilia, camptodactilia, implantación anómala de dígitos). También se han observado contracturas congénitas de flexión y movimientos articulares limitados.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 9q","Spanish_GARD_Synonym__c":"trisomía 9qter; trisomía terminal 9q","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 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.","Curated_Disease_Description_Source__c":"MONDO:0019883","GARD_Synonym__c":"distal duplication 9q; distal trisomy type 9q; telomeric duplication 9q; trisomy 9qter","Name":"Distal trisomy 9q","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.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:96101"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96101"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96101","Source__c":"C4706939; MONDO:0019883; ORPHA:96101","Xref__c":"ORPHA:96101"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764520001","Source__c":"C4706939; MONDO:0019883","Xref__c":"764520001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706939","Source__c":"C4706939","Xref__c":"C4706939"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1645202","Source__c":"C4706939","Xref__c":"MEDGEN:1645202"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019883","Source__c":"GARD:0019316","Xref__c":"MONDO:0019883"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 9q"," distal trisomy type 9q"," telomeric duplication 9q"," trisomy 9qter"]}