{
    "disease_id": "DOID:0111848",
    "recommended_name": {
        "id": "DOID:0111848",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111848",
        "name": "osteogenesis imperfecta type 18",
        "description": "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111848",
            "name": "OI18",
            "description": ""
        },
        {
            "id": "DOID:0111848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111848",
            "name": "osteogenesis imperfecta, type XVIII",
            "description": ""
        },
        {
            "id": "MONDO:0044329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044329",
            "name": "osteogenesis imperfecta, type 18",
            "description": "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})."
        },
        {
            "id": "MONDO:0044329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044329",
            "name": "OI18",
            "description": ""
        },
        {
            "id": "MIM:617952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617952",
            "name": "Osteogenesis imperfecta 18",
            "description": "Osteogenesis imperfecta 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111848"
    ],
    "unlinked_id_list": []
}