{"Name":"Mosaic trisomy 22","DiseaseID__c":"GARD:0006085","id":6085,"encodedName":"mosaic-trisomy-22","IsDeleted":false,"Disease_Name_Full__c":"Mosaic trisomy 22","Xref_IDs__c":"764625002; C2931326; C536796; MEDGEN:419045; MONDO:0019869; ORPHA:96068","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019869","Disease_Description__c":"Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.","GARD_Name__c":"Mosaic trisomy 22","GARD_Synonym__c":"mosaic trisomy chromosome 22; mosaic trisomy type 22; trisomy 22 mosaicism; uniparental disomy of  22","Curated_Disease_Description_Source__c":"GARD:0006085","Curated_Disease_Description__c":"Mosaic trisomy 22 is a chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this condition include growth delays, cognitive deficiencies, unequal development of the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with Mosaic trisomy 22 and normal growth and development have also been described.","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:96068","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019869","ORPHANET_ID__c":"ORPHA:96068","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trisomía 22 en mosaico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de trisomía 22 en mosaico","Spanish_GARD_Synonym__c":"trisomía del cromosoma 22 en mosaico","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":"Mosaic trisomy 22 is a chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this condition include growth delays, cognitive deficiencies, unequal development of the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with Mosaic trisomy 22 and normal growth and development have also been described.","Curated_Disease_Description_Source__c":"GARD:0006085","GARD_Synonym__c":"mosaic trisomy chromosome 22; mosaic trisomy type 22; trisomy 22 mosaicism; uniparental disomy of  22","Name":"Mosaic trisomy 22","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"22q Northern Ireland","Website__c":"https://www.22q11northernireland.co.uk/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Chromosome 22 Central","Website__c":"https://c22c.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":"Antenatal","Provided_By__c":"ORPHA:96068"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96068"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931326"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536796","Source__c":"MONDO:0019869","Xref__c":"C536796"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931326","Source__c":"C2931326","Xref__c":"C2931326"},{"URL__c":"https://www.orpha.net/en/disease/detail/96068","Source__c":"C2931326; MONDO:0019869","Xref__c":"ORPHA:96068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764625002","Source__c":"MONDO:0019869","Xref__c":"764625002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419045","Source__c":"C2931326","Xref__c":"MEDGEN:419045"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019869","Source__c":"GARD:0006085","Xref__c":"MONDO:0019869"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["mosaic trisomy chromosome 22"," mosaic trisomy type 22"," trisomy 22 mosaicism"," uniparental disomy of  22"]}