{
    "disease_id": "DOID:0080664",
    "recommended_name": {
        "id": "DOID:0080664",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080664",
        "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
        "description": "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "Hardcastle syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080664",
            "name": "bone dysplasia-medullary fibrosarcoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-bone malignancy syndrome",
            "description": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)."
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "DMS-MFH",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "Hardcastle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "Hardcastle's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "bone dysplasia-medullary fibrosarcoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-bone malignancy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "BDMF",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "DMSMFH",
            "description": ""
        },
        {
            "id": "MONDO:0007205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007205",
            "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
            "description": ""
        },
        {
            "id": "MIM:112250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112250",
            "name": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma",
            "description": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080664"
    ],
    "unlinked_id_list": []
}