{"Name":"Exostoses, multiple, type 2","DiseaseID__c":"GARD:0002205","id":2205,"encodedName":"exostoses-multiple-type-2","IsDeleted":false,"Disease_Name_Full__c":"Exostoses, multiple, type 2","Xref_IDs__c":"C18252; C1851413; MEDGEN:377018; MONDO:0007586; OMIM:133701","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007586","Disease_Description__c":"This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.","GARD_Name__c":"Exostoses, multiple, type 2","GARD_Synonym__c":"exostoses (multiple) 2 gene; exostoses, multiple caused by mutation in ext2; exostoses, multiple, type ii; ext2; ext2 exostoses, multiple; ext2 gene; hereditary multiple osteochondromatosis, type ii","Curated_Disease_Description_Source__c":"MEDGEN:C1851413","Curated_Disease_Description__c":"The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:133701","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007586","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":"The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).","Curated_Disease_Description_Source__c":"MEDGEN:C1851413","GARD_Synonym__c":"exostoses (multiple) 2 gene; exostoses, multiple caused by mutation in ext2; exostoses, multiple, type ii; ext2; ext2 exostoses, multiple; ext2 gene; hereditary multiple osteochondromatosis, type ii","Name":"Exostoses, multiple, type 2","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:C1851413"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002205","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1235","Source__c":"Gene Review","Xref__c":"NBK1235"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C18252","Source__c":"MONDO:0007586","Xref__c":"C18252"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851413","Source__c":"C1851413","Xref__c":"C1851413"},{"URL__c":"https://www.omim.org/entry/133701","Source__c":"C1851413; MONDO:0007586","Xref__c":"OMIM:133701"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377018","Source__c":"C1851413","Xref__c":"MEDGEN:377018"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007586","Source__c":"GARD:0002205","Xref__c":"MONDO:0007586"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EXT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ext2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A slowly growing malignant neoplasm derived from cartilage cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006765","HPO_Name__c":"Chondrosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002318","HPO_Synonym__c":"Cervical spondylotic myelopathy; Degenerative cervical myelopathy","HPO_Name__c":"Cervical myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003276","HPO_Name__c":"Pelvic bone exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000918","HPO_Synonym__c":"Scapulae exostoses; Shoulder bone exostoes","HPO_Name__c":"Scapular exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003068","HPO_Name__c":"Madelung-like forearm deformities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"Multiple circumscribed bony excrescences located in the ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000896","HPO_Name__c":"Rib exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003406","HPO_Name__c":"Peripheral nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:133701","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:133701","Feature__r":{"HPO_Description__c":"The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003105","HPO_Synonym__c":"Protuberances at ends of long bones","HPO_Name__c":"Protuberances at ends of long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["exostoses (multiple) 2 gene"," exostoses, multiple caused by mutation in ext2"," exostoses, multiple, type ii"," ext2"," ext2 exostoses, multiple"," ext2 gene"," hereditary multiple osteochondromatosis, type ii"]}