{"Name":"Mosaic trisomy 10","DiseaseID__c":"GARD:0019302","id":19302,"encodedName":"mosaic-trisomy-10","IsDeleted":false,"Disease_Name_Full__c":"Mosaic trisomy 10","Xref_IDs__c":"764461004; C2931794; C538292; MEDGEN:419163; MONDO:0019868; ORPHA:96063","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019868","Disease_Description__c":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.","GARD_Name__c":"Mosaic trisomy 10","GARD_Synonym__c":"mosaic trisomy 10 syndrome; mosaic trisomy chromosome 10; mosaic trisomy type 10; trisomy 10 mosaicism; uniparental disomy of  10","Curated_Disease_Description_Source__c":"ORPHA:96063","Curated_Disease_Description__c":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g., radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.","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:96063","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019868","ORPHANET_ID__c":"ORPHA:96063","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trisomía 10 en mosaico","Spanish_Description_Source__c":"ORPHA:96063","Spanish_Description__c":"La trisomía 10 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por retraso del crecimiento, dismorfia craneofacial (incluyendo frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia arriba, blefarofimosis, orejas grandes malformadas de baja implantación, paladar alto y arqueado, labio leporino/paladar hendido, retrognatia) y malformaciones cardiacas, renales y esqueléticas (p. ej., defectos del rayo radial, escoliosis). Por lo general, el fallecimiento tiene lugar en la etapa neonatal o en la primera infancia. Otras características descritas incluyen anomalías del sistema nervioso central y del oído, así como hendiduras faciales y atresia anal.","Spanish_Disease_Name__c":"síndrome de trisomía 10 en mosaico","Spanish_GARD_Synonym__c":"trisomía del cromosoma 10 en mosaico","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":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g., radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.","Curated_Disease_Description_Source__c":"ORPHA:96063","GARD_Synonym__c":"mosaic trisomy 10 syndrome; mosaic trisomy chromosome 10; mosaic trisomy type 10; trisomy 10 mosaicism; uniparental disomy of  10","Name":"Mosaic trisomy 10","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/"}],"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:96063"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96063"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764461004","Source__c":"C2931794; MONDO:0019868","Xref__c":"764461004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538292","Source__c":"MONDO:0019868","Xref__c":"C538292"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419163","Source__c":"C2931794","Xref__c":"MEDGEN:419163"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931794","Source__c":"C2931794","Xref__c":"C2931794"},{"URL__c":"https://www.orpha.net/en/disease/detail/96063","Source__c":"C2931794; MONDO:0019868; ORPHA:96063","Xref__c":"ORPHA:96063"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019868","Source__c":"GARD:0019302","Xref__c":"MONDO:0019868"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["mosaic trisomy 10 syndrome"," mosaic trisomy chromosome 10"," mosaic trisomy type 10"," trisomy 10 mosaicism"," uniparental disomy of  10"]}