{
    "disease_id": "DOID:0112150", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "spondylo-epimetaphyseal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "SEMD, X-linked"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "SEMD X-linked"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "spondyloepimetaphyseal dysplasia, X-linked; SEMDX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "SEMDX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "spondyloepimetaphyseal dysplasia X-linked"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010248", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010248", 
            "name": "spondyloepimetaphyseal dysplasia, X-linked"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112150", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112150", 
            "name": "SEMDX"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112150", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112150", 
            "name": "SEMD X-linked"
        }, 
        {
            "url": "https://www.omim.org/entry/300106", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:300106", 
            "name": "Spondyloepimetaphyseal dysplasia, X-linked"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112150", 
        "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112150", 
        "name": "X-linked spondyloepimetaphyseal dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300106", 
            "id": "300106", 
            "database": "MIM"
        }
    ]
}
