{
    "disease_id": "DOID:0051046",
    "recommended_name": {
        "id": "DOID:0051046",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051046",
        "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0976230",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976230",
            "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051046"
    ],
    "unlinked_id_list": []
}