{"Name":"Chromosome 1q deletion","DiseaseID__c":"GARD:0008669","id":8669,"encodedName":"chromosome-1q-deletion","IsDeleted":false,"Disease_Name_Full__c":"Chromosome 1q deletion","Xref_IDs__c":"C5679674; MEDGEN:1825942; MONDO:0022756; ORPHA:262001","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0022756","Disease_Description__c":"Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.","GARD_Name__c":"Chromosome 1q deletion","GARD_Synonym__c":"partial deletion of chromosome 1q; partial deletion of the long arm of chromosome 1; partial deletion of the long arm of chromosome type 1; partial monosomy of chromosome 1q; partial monosomy of the long arm of chromosome 1","Curated_Disease_Description_Source__c":"GARD:0008669","Curated_Disease_Description__c":"Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 1. The severity and symptoms depend on the size and location of the deletion and which genes are involved. Symptoms may include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0022756","ORPHANET_ID__c":"ORPHA:262001","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción parcial del brazo largo del cromosoma 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de deleción parcial del brazo largo del cromosoma 1","Spanish_GARD_Synonym__c":"deleción parcial del cromosoma 1q; monosomía parcial del brazo largo del cromosoma 1; monosomía parcial del cromosoma 1q","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":"Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 1. The severity and symptoms depend on the size and location of the deletion and which genes are involved. Symptoms may include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children.","Curated_Disease_Description_Source__c":"GARD:0008669","GARD_Synonym__c":"partial deletion of chromosome 1q; partial deletion of the long arm of chromosome 1; partial deletion of the long arm of chromosome type 1; partial monosomy of chromosome 1q; partial monosomy of the long arm of chromosome 1","Name":"Chromosome 1q deletion","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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:CN072190"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/262001","Source__c":"C5679674; MONDO:0022756; ORPHA:262001","Xref__c":"ORPHA:262001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679674","Source__c":"C5679674","Xref__c":"C5679674"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1825942","Source__c":"C5679674","Xref__c":"MEDGEN:1825942"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022756","Source__c":"GARD:0008669","Xref__c":"MONDO:0022756"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics"]},"synonyms":["partial deletion of chromosome 1q"," partial deletion of the long arm of chromosome 1"," partial deletion of the long arm of chromosome type 1"," partial monosomy of chromosome 1q"," partial monosomy of the long arm of chromosome 1"]}