{"Name":"Distal trisomy 11q","DiseaseID__c":"GARD:0019318","id":19318,"encodedName":"distal-trisomy-11q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 11q","Xref_IDs__c":"764447009; C2931797; C538294; MEDGEN:419166; MONDO:0019885; ORPHA:96103","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:0019885","Disease_Description__c":"Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.","GARD_Name__c":"Distal trisomy 11q","GARD_Synonym__c":"chromosome 11, partial trisomy 11q; distal duplication 11q; distal trisomy type 11q; telomeric duplication 11q; trisomy 11qter","Curated_Disease_Description_Source__c":"MONDO:0019885","Curated_Disease_Description__c":"Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also 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:96103","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019885","ORPHANET_ID__c":"ORPHA:96103","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 11q","Spanish_Description_Source__c":"ORPHA:96103","Spanish_Description__c":"La trisomía terminal 11q es un síndrome de anomalías cromosómicas poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 11, con una gran variabilidad fenotípica que se caracteriza principalmente por dismorfia craneofacial (braquicefalia/plagiocefalia, orejas de baja implantación y rotadas posteriormente, surco nasolabial corto, micrognatia) y discapacidad intelectual. También se pueden asociar talla baja y convulsiones, así como anomalías cardíacas (p. ej., comunicación interauricular), esqueléticas (incluyendo braqui/sindactilia) y genitales (p. ej., micropene, criptorquidia). También se han notificado anomalías del desarrollo neurológico (insensibilidad al dolor, pérdida auditiva neurosensorial, trastorno del lenguaje expresivo) y trastornos neuropsiquiátricos (rasgos autistas, alucinaciones auditivas, autohabla).","Spanish_Disease_Name__c":"síndrome de duplicación terminal 11q","Spanish_GARD_Synonym__c":"trisomía 11qter; trisomía terminal 11q","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 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019885","GARD_Synonym__c":"chromosome 11, partial trisomy 11q; distal duplication 11q; distal trisomy type 11q; telomeric duplication 11q; trisomy 11qter","Name":"Distal trisomy 11q","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"European Chromosome 11 Network","Website__c":"https://chromosome11.org/en/home/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"11q Research & Resource Group","Website__c":"https://www.11qusa.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:96103"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96103"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538294","Source__c":"MONDO:0019885","Xref__c":"C538294"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764447009","Source__c":"C2931797; MONDO:0019885","Xref__c":"764447009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419166","Source__c":"C2931797","Xref__c":"MEDGEN:419166"},{"URL__c":"https://www.orpha.net/en/disease/detail/96103","Source__c":"C2931797; MONDO:0019885; ORPHA:96103","Xref__c":"ORPHA:96103"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931797","Source__c":"C2931797","Xref__c":"C2931797"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019885","Source__c":"GARD:0019318","Xref__c":"MONDO:0019885"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["chromosome 11, partial trisomy 11q"," distal duplication 11q"," distal trisomy type 11q"," telomeric duplication 11q"," trisomy 11qter"]}