{"Name":"Exostoses, multiple, type III","DiseaseID__c":"GARD:0002206","id":2206,"encodedName":"exostoses-multiple-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Exostoses, multiple, type III","Xref_IDs__c":"C1838420; C563975; MEDGEN:333090; MONDO:0010846; OMIM:600209","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:600209","Disease_Description__c":"For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see ({133700}).","GARD_Name__c":"Exostoses, multiple, type III","GARD_Synonym__c":"ext3","Curated_Disease_Description_Source__c":"OMIM:133700","Curated_Disease_Description__c":"Multiple hereditary exostoses, type III (EXT3) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type III (EXT3) has been mapped to a locus on chromosome 19.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600209","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010846","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":"Multiple hereditary exostoses, type III (EXT3) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type III (EXT3) has been mapped to a locus on chromosome 19.","Curated_Disease_Description_Source__c":"OMIM:133700","GARD_Synonym__c":"ext3","Name":"Exostoses, multiple, type III","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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1838420"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002206","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838420","Source__c":"C1838420","Xref__c":"C1838420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563975","Source__c":"MONDO:0010846","Xref__c":"C563975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333090","Source__c":"C1838420","Xref__c":"MEDGEN:333090"},{"URL__c":"https://www.omim.org/entry/600209","Source__c":"C1838420; MONDO:0010846","Xref__c":"OMIM:600209"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010846","Source__c":"GARD:0002206","Xref__c":"MONDO:0010846"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600209","Feature__r":{"HPO_Description__c":"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002762","HPO_Name__c":"Multiple exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["ext3"]}