{
    "disease_id": "DOID:0112282",
    "recommended_name": {
        "id": "DOID:0112282",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112282",
        "name": "spondyloepiphyseal dysplasia Kimberley type",
        "description": "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112282",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112282",
            "name": "SEDK",
            "description": ""
        },
        {
            "id": "MONDO:0012019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012019",
            "name": "spondyloepiphyseal dysplasia, Kimberley type",
            "description": "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy."
        },
        {
            "id": "MONDO:0012019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012019",
            "name": "SEDK",
            "description": ""
        },
        {
            "id": "MONDO:0012019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012019",
            "name": "spondyloepiphyseal dysplasia, Kimberley type",
            "description": ""
        },
        {
            "id": "MONDO:0012019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012019",
            "name": "Sedk",
            "description": ""
        },
        {
            "id": "MIM:608361",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608361",
            "name": "Spondyloepiphyseal dysplasia type Kimberley",
            "description": "Spondyloepiphyseal dysplasia type Kimberley"
        }
    ]
}