{"Name":"Mosaic genome-wide paternal uniparental disomy","DiseaseID__c":"GARD:0021493","id":21493,"encodedName":"mosaic-genome-wide-paternal-uniparental-disomy","IsDeleted":false,"Disease_Name_Full__c":"Mosaic genome-wide paternal uniparental disomy","Xref_IDs__c":"783149002; C190025; C5190828; MEDGEN:1679626; MONDO:0018007; ORPHA:329813","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":2,"Description_Source__c":"ORPHA:329813","Disease_Description__c":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.","GARD_Name__c":"Mosaic genome-wide paternal uniparental disomy","GARD_Synonym__c":"androgenetic/biparental mosaicism; genome-wide paternal uniparental disomy mosaicism; mosaic genome-wide paternal upd","Curated_Disease_Description_Source__c":"ORPHA:329813","Curated_Disease_Description__c":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:329813","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018007","ORPHANET_ID__c":"ORPHA:329813","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental paterna de genoma completo en mosaico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disomía uniparental paterna de genoma completo en mosaico","Spanish_GARD_Synonym__c":"dup paterna de genoma completo en mosaico; mosaicismo androgénico/biparental","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":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.","Curated_Disease_Description_Source__c":"ORPHA:329813","GARD_Synonym__c":"androgenetic/biparental mosaicism; genome-wide paternal uniparental disomy mosaicism; mosaic genome-wide paternal upd","Name":"Mosaic genome-wide paternal uniparental disomy","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":"Antenatal","Provided_By__c":"ORPHA:329813"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329813"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679626","Source__c":"C5190828","Xref__c":"MEDGEN:1679626"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190828","Source__c":"C5190828","Xref__c":"C5190828"},{"URL__c":"https://www.orpha.net/en/disease/detail/329813","Source__c":"C5190828; MONDO:0018007; ORPHA:329813","Xref__c":"ORPHA:329813"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018007","Source__c":"GARD:0021493","Xref__c":"MONDO:0018007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783149002","Source__c":"C5190828","Xref__c":"783149002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C190025","Source__c":"C5190828","Xref__c":"C190025"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["androgenetic/biparental mosaicism"," genome-wide paternal uniparental disomy mosaicism"," mosaic genome-wide paternal upd"]}