{"Name":"Non-distal trisomy 9q","DiseaseID__c":"GARD:0019323","id":19323,"encodedName":"non-distal-trisomy-9q","IsDeleted":false,"Disease_Name_Full__c":"Non-distal trisomy 9q","Xref_IDs__c":"764997000; C4707261; MEDGEN:1631139; MONDO:0019890; ORPHA:96112","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":1,"Description_Source__c":"MONDO:0019890","Disease_Description__c":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.","GARD_Name__c":"Non-distal trisomy 9q","GARD_Synonym__c":"non-distal duplication 9q; non-distal trisomy type 9q; non-telomeric trisomy 9q","Curated_Disease_Description_Source__c":"MONDO:0019890","Curated_Disease_Description__c":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:96112","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019890","ORPHANET_ID__c":"ORPHA:96112","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación intersticial 9q","Spanish_Description_Source__c":"ORPHA:96112","Spanish_Description__c":"La trisomía intersticial 9q es un síndrome por anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 9, con un fenotipo muy variable caracterizado principalmente por retraso del desarrollo, talla baja, discapacidad intelectual y dismorfia craneofacial (p. ej., microcefalia, frente ancha, orejas de baja implantación, epicanto, nariz prominente y retrognatia). También se han descrito anomalías cardíacas, oculares, tiroideas y defectos esofágicos, así como anomalías del sistema nervioso central y alteraciones de conductuales/psiquiátricas.","Spanish_Disease_Name__c":"síndrome de duplicación intersticial 9q","Spanish_GARD_Synonym__c":"trisomía intersticial 9q; trisomía no 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":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019890","GARD_Synonym__c":"non-distal duplication 9q; non-distal trisomy type 9q; non-telomeric trisomy 9q","Name":"Non-distal trisomy 9q","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":"Neonatal","Provided_By__c":"ORPHA:96112"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96112","Source__c":"C4707261; MONDO:0019890; ORPHA:96112","Xref__c":"ORPHA:96112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631139","Source__c":"C4707261","Xref__c":"MEDGEN:1631139"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764997000","Source__c":"C4707261; MONDO:0019890","Xref__c":"764997000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707261","Source__c":"C4707261","Xref__c":"C4707261"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019890","Source__c":"GARD:0019323","Xref__c":"MONDO:0019890"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["non-distal duplication 9q"," non-distal trisomy type 9q"," non-telomeric trisomy 9q"]}