{"Name":"Partial duplication of the long arm of chromosome X","DiseaseID__c":"GARD:0005369","id":5369,"encodedName":"partial-duplication-of-the-long-arm-of-chromosome-x","IsDeleted":false,"Disease_Name_Full__c":"Partial duplication of the long arm of chromosome X","Xref_IDs__c":"C0795891; C536732; MEDGEN:162887; MONDO:0017010; ORPHA:263783","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017010","Disease_Description__c":"Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.","GARD_Name__c":"Partial duplication of the long arm of chromosome X","GARD_Synonym__c":"partial duplication of chromosome xq; partial duplication of the long arm of chromosome type x; partial trisomy of  chromosome xq; partial trisomy of chromosome xq; partial trisomy of the long arm of chromosome x","Curated_Disease_Description_Source__c":"MONDO:0017010","Curated_Disease_Description__c":"Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.","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:0017010","ORPHANET_ID__c":"ORPHA:263783","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación parcial del brazo largo del cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de duplicación parcial del brazo largo del cromosoma x","Spanish_GARD_Synonym__c":"duplicación parcial del cromosoma xq; trisomía parcial del brazo largo del cromosoma x; trisomía parcial del cromosoma xq","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 Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.","Curated_Disease_Description_Source__c":"MONDO:0017010","GARD_Synonym__c":"partial duplication of chromosome xq; partial duplication of the long arm of chromosome type x; partial trisomy of  chromosome xq; partial trisomy of chromosome xq; partial trisomy of the long arm of chromosome x","Name":"Partial duplication of the long arm of chromosome X","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:C0795891"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536732","Source__c":"MONDO:0017010","Xref__c":"C536732"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162887","Source__c":"C0795891","Xref__c":"MEDGEN:162887"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795891","Source__c":"C0795891","Xref__c":"C0795891"},{"URL__c":"https://www.orpha.net/en/disease/detail/263783","Source__c":"C0795891; MONDO:0017010","Xref__c":"ORPHA:263783"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017010","Source__c":"GARD:0005369","Xref__c":"MONDO:0017010"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics"]},"synonyms":["partial duplication of chromosome xq"," partial duplication of the long arm of chromosome type x"," partial trisomy of  chromosome xq"," partial trisomy of chromosome xq"," partial trisomy of the long arm of chromosome x"]}