{"Name":"Maternal uniparental disomy of chromosome 13","DiseaseID__c":"GARD:0019382","id":19382,"encodedName":"maternal-uniparental-disomy-of-chromosome-13","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 13","Xref_IDs__c":"770563005; C4722325; MEDGEN:1656812; MONDO:0019994; ORPHA:97678","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019994","Disease_Description__c":"Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","GARD_Name__c":"Maternal uniparental disomy of chromosome 13","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 13; upd(13)mat","Curated_Disease_Description_Source__c":"ORPHA:97678","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:97678","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019994","ORPHANET_ID__c":"ORPHA:97678","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 13","Spanish_Description_Source__c":"ORPHA:97678","Spanish_Description__c":"La disomía uniparental materna del cromosoma 13 es una disomía uniparental de origen materno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo la madre es portadora y en el que esta disomía implicaría que la mutación estuviese en homocigosis.","Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 13","Spanish_GARD_Synonym__c":"upd(13)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 13 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except in cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.","Curated_Disease_Description_Source__c":"ORPHA:97678","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 13; upd(13)mat","Name":"Maternal uniparental disomy of chromosome 13","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:97678"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/97678","Source__c":"C4722325; MONDO:0019994; ORPHA:97678","Xref__c":"ORPHA:97678"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4722325","Source__c":"C4722325","Xref__c":"C4722325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1656812","Source__c":"C4722325","Xref__c":"MEDGEN:1656812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770563005","Source__c":"C4722325","Xref__c":"770563005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019994","Source__c":"GARD:0019382","Xref__c":"MONDO:0019994"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics"]},"synonyms":["maternal uniparental disomy of chromosome type 13"," upd(13)mat"]}