{"Name":"Exostoses, multiple, type 1","DiseaseID__c":"GARD:0002204","id":2204,"encodedName":"exostoses-multiple-type-1","IsDeleted":false,"Disease_Name_Full__c":"Exostoses, multiple, type 1","Xref_IDs__c":"CN263289; MEDGEN:946317; MONDO:0007585","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":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007585","Disease_Description__c":"Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.","GARD_Name__c":"Exostoses, multiple, type 1","GARD_Synonym__c":"exostoses, multiple caused by mutation in ext1; exostoses, multiple, type i; ext1; ext1 exostoses, multiple; hereditary multiple osteochondromatosis, type i","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Exostoses, multiple, type I is a genetic disorder that causes multiple bony growths, called exostoses, that mostly form on the ends of long bones, but also affect flat bones, ribs, and vertebrae. These growths are capped by cartilage and can cause deformities in the legs, forearms, and hands. This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. Exostoses, multiple, type 1 is caused by gene variants in the EXT1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:133700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007585","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":"Exostoses, multiple, type I is a genetic disorder that causes multiple bony growths, called exostoses, that mostly form on the ends of long bones, but also affect flat bones, ribs, and vertebrae. These growths are capped by cartilage and can cause deformities in the legs, forearms, and hands. This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. Exostoses, multiple, type 1 is caused by gene variants in the EXT1 gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"exostoses, multiple caused by mutation in ext1; exostoses, multiple, type i; ext1; ext1 exostoses, multiple; hereditary multiple osteochondromatosis, type i","Name":"Exostoses, multiple, type 1","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002204","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1235","Source__c":"Gene Review","Xref__c":"NBK1235"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007585","Source__c":"GARD:0002204","Xref__c":"MONDO:0007585"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN263289","Source__c":"CN263289","Xref__c":"CN263289"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=946317","Source__c":"CN263289","Xref__c":"MEDGEN:946317"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EXT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ext1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Disease Category":["Cancer"]},"synonyms":["exostoses, multiple caused by mutation in ext1"," exostoses, multiple, type i"," ext1"," ext1 exostoses, multiple"," hereditary multiple osteochondromatosis, type i"]}