{"Name":"Paternal uniparental disomy of chromosome 20","DiseaseID__c":"GARD:0019343","id":19343,"encodedName":"paternal-uniparental-disomy-of-chromosome-20","IsDeleted":false,"Disease_Name_Full__c":"Paternal uniparental disomy of chromosome 20","Xref_IDs__c":"715736008; C4275028; MEDGEN:897979; MONDO:0019924; ORPHA:96194","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019924","Disease_Description__c":"Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.","GARD_Name__c":"Paternal uniparental disomy of chromosome 20","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 20; paternal upd(20); paternal upd20; paternal upd20 (uniparental disomy of chromosome 20); upd(20)pat","Curated_Disease_Description_Source__c":"ORPHA:96194","Curated_Disease_Description__c":"Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.","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:96194","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019924","ORPHANET_ID__c":"ORPHA:96194","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental paterna del cromosoma 20","Spanish_Description_Source__c":"ORPHA:96194","Spanish_Description__c":"La disomía uniparental (DUP) paterna del cromosoma 20 es una anomalía cromosómica muy infrecuente en la que ambas copias del cromosoma 20 son heredadas del padre. Los principales rasgos descritos consisten en sobrepeso al nacimiento y/o un inicio temprano de la obesidad, macrocefalia relativa, y elevada estatura. La mayoría de pacientes son identificados mediante pruebas de detección del pseudohipoparatiroidismo tipo 1b esporádico (ver este término) y la presencia de DUP que afecta a segmentos variables del brazo largo del cromosoma 20.","Spanish_Disease_Name__c":"síndrome de disomía uniparental paterna del cromosoma 20","Spanish_GARD_Synonym__c":"upd(20) paterna; upd(20)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 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.","Curated_Disease_Description_Source__c":"ORPHA:96194","GARD_Synonym__c":"paternal uniparental disomy of chromosome type 20; paternal upd(20); paternal upd20; paternal upd20 (uniparental disomy of chromosome 20); upd(20)pat","Name":"Paternal uniparental disomy of chromosome 20","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":"Neonatal","Provided_By__c":"ORPHA:96194"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96194"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715736008","Source__c":"C4275028; MONDO:0019924","Xref__c":"715736008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=897979","Source__c":"C4275028","Xref__c":"MEDGEN:897979"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275028","Source__c":"C4275028","Xref__c":"C4275028"},{"URL__c":"https://www.orpha.net/en/disease/detail/96194","Source__c":"C4275028; MONDO:0019924; ORPHA:96194","Xref__c":"ORPHA:96194"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019924","Source__c":"GARD:0019343","Xref__c":"MONDO:0019924"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["paternal uniparental disomy of chromosome type 20"," paternal upd(20)"," paternal upd20"," paternal upd20 (uniparental disomy of chromosome 20)"," upd(20)pat"]}