{
    "disease_id": "DOID:0060992",
    "recommended_name": {
        "id": "DOID:0060992",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060992",
        "name": "bent bone dysplasia syndrome 1",
        "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "bent bone dysplasia syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "FGFR2-related bent bone dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "perinatal lethal bent bone dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "BBDS",
            "description": ""
        },
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "bent bone dysplasia (BBD)-FGFR2 type",
            "description": ""
        },
        {
            "id": "MONDO:0013815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013815",
            "name": "bent bone dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MIM:614592",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614592",
            "name": "Bent bone dysplasia syndrome 1",
            "description": "Bent bone dysplasia syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060992"
    ],
    "unlinked_id_list": []
}