{
    "disease_id": "DOID:0110340",
    "recommended_name": {
        "id": "DOID:0110340",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110340",
        "name": "osteogenesis imperfecta type 4",
        "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal 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:0110340",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110340",
            "name": "OI4",
            "description": ""
        },
        {
            "id": "DOID:0110340",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110340",
            "name": "osteogenesis imperfecta type IV",
            "description": ""
        },
        {
            "id": "DOID:0110340",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110340",
            "name": "osteogenesis imperfecta with normal sclera",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta type 4",
            "description": "Osteogenesis imperfecta type IV is a moderate 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 IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)."
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "common variable OI with normal sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta, type IV; OI4",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta with normal sclera",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta type IV",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "OI type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "OI, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta with Normal sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "OI type IV",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "osteogenesis imperfecta, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0008148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008148",
            "name": "OI4",
            "description": ""
        },
        {
            "id": "MIM:166220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166220",
            "name": "Osteogenesis imperfecta 4",
            "description": "Osteogenesis imperfecta 4"
        }
    ]
}