{
    "disease_id": "DOID:0111512",
    "recommended_name": {
        "id": "DOID:0111512",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111512",
        "name": "metachondromatosis",
        "description": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111512",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111512",
            "name": "METCDS",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "metachondromatosis",
            "description": "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions."
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "metachondromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "METCDS",
            "description": ""
        },
        {
            "id": "MONDO:0007979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007979",
            "name": "METACHONDROMATOSIS; METCDS",
            "description": ""
        },
        {
            "id": "MIM:156250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156250",
            "name": "Metachondromatosis",
            "description": "Metachondromatosis"
        }
    ]
}