{
    "disease_id": "DOID:206",
    "recommended_name": {
        "id": "DOID:206",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:206",
        "name": "hereditary multiple exostoses",
        "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
    },
    "synonyms": [
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "Multiple congenital exostosis",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "Multiple exostosis syndromes",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "Osteochondromatosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "hereditary multiple exostoses 1",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "hereditary multiple exostoses 2",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "hereditary multiple exostoses 3",
            "description": ""
        },
        {
            "id": "DOID:206",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:206",
            "name": "multiple ostechondromas",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "exostoses, multiple, type 1",
            "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
        },
        {
            "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:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "exostoses, multiple, type I",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "diaphyseal Aclasis",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "exostoses, multiple caused by mutation in EXT1",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "EXT",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "EXT1 exostoses, multiple",
            "description": ""
        },
        {
            "id": "MONDO:0007585",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007585",
            "name": "multiple cartilaginous exostoses",
            "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": "exostoses, multiple, type II",
            "description": ""
        },
        {
            "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": "exostoses, multiple caused by mutation in EXT2",
            "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": "EXT2 exostoses, multiple",
            "description": ""
        },
        {
            "id": "MONDO:0007586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007586",
            "name": "Ext2",
            "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 3",
            "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; EXT3",
            "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"
        }
    ]
}