{
    "disease_id": "DOID:0110334",
    "recommended_name": {
        "id": "DOID:0110334",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110334",
        "name": "osteogenesis imperfecta type 1",
        "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110334",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110334",
            "name": "OI1",
            "description": ""
        },
        {
            "id": "DOID:0110334",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110334",
            "name": "osteogenesis imperfecta type I",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta type 1",
            "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures."
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "Adair-Dighton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "COL1A1-related osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "OI type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "OI1",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "Van der Hoeve syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "mild osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "non-deforming osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta type I",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "OI, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "classic non-deforming OI with blue sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta tarda",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta with blue sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008146",
            "name": "osteogenesis imperfecta, type I",
            "description": ""
        },
        {
            "id": "MIM:166200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166200",
            "name": "Osteogenesis imperfecta 1",
            "description": "Osteogenesis imperfecta 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110334"
    ],
    "unlinked_id_list": []
}