{"Name":"Diploid-triploid mosaicism","DiseaseID__c":"GARD:0010715","id":10715,"encodedName":"diploid-triploid-mosaicism","IsDeleted":false,"Disease_Name_Full__c":"Diploid-triploid mosaicism","Xref_IDs__c":"10177005; C2932665; C548012; MEDGEN:444358; MONDO:0022991","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0022991","Disease_Description__c":"Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.","GARD_Name__c":"Diploid-triploid mosaicism","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0010715","Curated_Disease_Description__c":"Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. Symptoms of this condition may include decreased muscle tone (hypotonia), slow growth, characteristic facial features, fusion or webbing between the fingers and/or toes (syndactyly), and unusual skin pigmentation. Intellectual disabilities may be present. DSM occurs when a person has some cells with three copies of each chromosome for a total of 69 chromosomes (triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (diploid cells). Having two or more different cell types is called mosaicism. Diagnosis is made through a clinical exam and a skin biopsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0022991","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. Symptoms of this condition may include decreased muscle tone (hypotonia), slow growth, characteristic facial features, fusion or webbing between the fingers and/or toes (syndactyly), and unusual skin pigmentation. Intellectual disabilities may be present. DSM occurs when a person has some cells with three copies of each chromosome for a total of 69 chromosomes (triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (diploid cells). Having two or more different cell types is called mosaicism. Diagnosis is made through a clinical exam and a skin biopsy.","Curated_Disease_Description_Source__c":"GARD:0010715","Name":"Diploid-triploid mosaicism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2932665","Source__c":"C2932665","Xref__c":"C2932665"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444358","Source__c":"C2932665","Xref__c":"MEDGEN:444358"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=10177005","Source__c":"MONDO:0022991","Xref__c":"10177005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C548012","Source__c":"MONDO:0022991","Xref__c":"C548012"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022991","Source__c":"GARD:0010715","Xref__c":"MONDO:0022991"}],"tags":{},"synonyms":[""]}