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"multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 exostoses, multiple", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses (Multiple) 2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple caused by mutation in EXT2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "Ext2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type II", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "EXT3", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type 3", "description": "" }, { "id": "MIM:133700", "resource": "MIM", "url": "https://www.omim.org/entry/133700", "name": "Hereditary multiple exostoses 1", "description": "Hereditary multiple exostoses 1" }, { "id": "MIM:133701", "resource": "MIM", "url": "https://www.omim.org/entry/133701", "name": "Hereditary multiple exostoses 2", "description": "Hereditary multiple exostoses 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" }, { "id": "206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:206" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }