{
    "disease_id": "DOID:0060993",
    "recommended_name": {
        "id": "DOID:0060993",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060993",
        "name": "bent bone dysplasia syndrome 2",
        "description": "A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859573",
            "name": "bent bone dysplasia syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:620076",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620076",
            "name": "Bent bone dysplasia syndrome 2",
            "description": "Bent bone dysplasia syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060993"
    ],
    "unlinked_id_list": []
}