{
    "disease_id": "DOID:0060490", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "immunoosseous dysplasia Schimke type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "Schimke immunoosseous dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "SIOD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "IMMUNOOSSEOUS dysplasia, Schimke type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "spondyloepiphyseal dysplasia nephrotic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "Schimke IMMUNOOSSEOUS dysplasia; SIOD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "spondyloepiphyseal dysplasia-nephrotic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009458", 
            "name": "Schimke syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060490", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060490", 
            "name": "Schimke immunoosseous dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060490", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060490", 
            "name": "Schimke syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060490", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060490", 
            "name": "immunoosseous dysplasia Schimke type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060490", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060490", 
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060490", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060490", 
        "name": "Schimke immuno-osseous dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/242900", 
            "id": "242900", 
            "database": "MIM"
        }
    ]
}
