{"Name":"Maternal uniparental disomy of chromosome 22","DiseaseID__c":"GARD:0019338","id":19338,"encodedName":"maternal-uniparental-disomy-of-chromosome-22","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 22","Xref_IDs__c":"782692004; C5190524; MEDGEN:1683631; MONDO:0019919; ORPHA:96188","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:96188","Disease_Description__c":"Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","GARD_Name__c":"Maternal uniparental disomy of chromosome 22","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 22; upd(22)mat; upd(22)mat - maternal uniparental disomy of chromosome 22","Curated_Disease_Description_Source__c":"ORPHA:96188","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:96188","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019919","ORPHANET_ID__c":"ORPHA:96188","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 22","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 22","Spanish_GARD_Synonym__c":"upd(22)mat","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":"Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","Curated_Disease_Description_Source__c":"ORPHA:96188","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 22; upd(22)mat; upd(22)mat - maternal uniparental disomy of chromosome 22","Name":"Maternal uniparental disomy of chromosome 22","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:96188"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:96188"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96188"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683631","Source__c":"C5190524","Xref__c":"MEDGEN:1683631"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190524","Source__c":"C5190524","Xref__c":"C5190524"},{"URL__c":"https://www.orpha.net/en/disease/detail/96188","Source__c":"C5190524; MONDO:0019919; ORPHA:96188","Xref__c":"ORPHA:96188"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782692004","Source__c":"C5190524","Xref__c":"782692004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019919","Source__c":"GARD:0019338","Xref__c":"MONDO:0019919"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["maternal uniparental disomy of chromosome type 22"," upd(22)mat"," upd(22)mat - maternal uniparental disomy of chromosome 22"]}