{"Name":"Paternal uniparental disomy of chromosome 21","DiseaseID__c":"GARD:0019344","id":19344,"encodedName":"paternal-uniparental-disomy-of-chromosome-21","IsDeleted":false,"Disease_Name_Full__c":"Paternal uniparental disomy of chromosome 21","Xref_IDs__c":"766720000; C4707801; MEDGEN:1647612; MONDO:0019925; ORPHA:96195","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:0019925","Disease_Description__c":"Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","GARD_Name__c":"Paternal uniparental disomy of chromosome 21","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 21; upd(21)pat","Curated_Disease_Description_Source__c":"ORPHA:96195","Curated_Disease_Description__c":"Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only father is a carrier.","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:96195","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019925","ORPHANET_ID__c":"ORPHA:96195","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental paterna del cromosoma 21","Spanish_Description_Source__c":"ORPHA:96195","Spanish_Description__c":"La disomía uniparental paterna del cromosoma 21 es una disomía uniparental de origen paterno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo el padre es portador y en el que esta disomía implicaría que la mutación estuviese en homocigosis.","Spanish_Disease_Name__c":"síndrome de disomía uniparental paterna del cromosoma 21","Spanish_GARD_Synonym__c":"upd(21)pat","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":"Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only father is a carrier.","Curated_Disease_Description_Source__c":"ORPHA:96195","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 21; upd(21)pat","Name":"Paternal uniparental disomy of chromosome 21","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.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:96195"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96195"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1647612","Source__c":"C4707801","Xref__c":"MEDGEN:1647612"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707801","Source__c":"C4707801","Xref__c":"C4707801"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766720000","Source__c":"C4707801; MONDO:0019925","Xref__c":"766720000"},{"URL__c":"https://www.orpha.net/en/disease/detail/96195","Source__c":"C4707801; MONDO:0019925; ORPHA:96195","Xref__c":"ORPHA:96195"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019925","Source__c":"GARD:0019344","Xref__c":"MONDO:0019925"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["paternal uniparental disomy of chromosome type 21"," upd(21)pat"]}