{
    "disease_id": "DOID:0110339",
    "recommended_name": {
        "id": "DOID:0110339",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110339",
        "name": "osteogenesis imperfecta type 3",
        "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110339",
            "name": "progressively deforming osteogenesis imperfecta with normal sclera",
            "description": ""
        },
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110339",
            "name": "OI3",
            "description": ""
        },
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110339",
            "name": "osteogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type 3",
            "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)."
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "progressive deforming osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "progressively deforming osteogenesis imperfecta with normal sclera",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "severe osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "Oi3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta, progressively deforming with normal sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta, progressively deforming, with normal sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta, type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "progressively deforming OI",
            "description": ""
        },
        {
            "id": "MIM:259420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259420",
            "name": "Osteogenesis imperfecta 3",
            "description": "Osteogenesis imperfecta 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110339"
    ],
    "unlinked_id_list": []
}