{
    "disease_id": "DOID:0110341",
    "recommended_name": {
        "id": "DOID:0110341",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110341",
        "name": "osteogenesis imperfecta type 2",
        "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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:0110341",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110341",
            "name": "OI2",
            "description": ""
        },
        {
            "id": "DOID:0110341",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110341",
            "name": "Vrolik type of osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "DOID:0110341",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110341",
            "name": "osteogenesis imperfecta type II",
            "description": ""
        },
        {
            "id": "DOID:0110341",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110341",
            "name": "perinatal lethal osteogenesis imperfecta congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta type 2",
            "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera."
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta type II",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "Vrolik type of osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta, type II; OI2",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "perinatal lethal osteogenesis imperfecta congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "OI, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "OI2",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "lethal osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "OI type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta congenita, perinatal lethal form",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "Perinatally lethal OI",
            "description": ""
        },
        {
            "id": "MONDO:0008147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008147",
            "name": "osteogenesis imperfecta congenita perinatal lethal form",
            "description": ""
        },
        {
            "id": "MIM:166210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166210",
            "name": "Osteogenesis imperfecta 2",
            "description": "Osteogenesis imperfecta 2"
        }
    ]
}