{
    "disease_id": "DOID:0060490",
    "recommended_name": {
        "id": "DOID:0060490",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060490",
        "name": "Schimke immuno-osseous dysplasia",
        "description": "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "Schimke immunoosseous dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "Schimke syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "immunoosseous dysplasia Schimke type",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immuno-osseous dysplasia",
            "description": "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immuno-osseous dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immunoosseous dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia-nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "SIOD",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MIM:242900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242900",
            "name": "Schimke immuno-osseous dysplasia",
            "description": "Schimke immuno-osseous dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060490"
    ],
    "unlinked_id_list": []
}