{
    "disease_id": "DOID:0110344",
    "recommended_name": {
        "id": "DOID:0110344",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110344",
        "name": "osteogenesis imperfecta type 5",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110344",
            "name": "OI5",
            "description": ""
        },
        {
            "id": "DOID:0110344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110344",
            "name": "osteogenesis imperfecta type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta type 5",
            "description": "Osteogenesis imperfecta type V 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 with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)."
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta, type V; OI5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI with calcification in interosseous membranes",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta, type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "type V OI",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "IFITM5 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta caused by mutation in IFITM5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta, type 5",
            "description": ""
        },
        {
            "id": "MIM:610967",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610967",
            "name": "Osteogenesis imperfecta 5",
            "description": "Osteogenesis imperfecta 5"
        }
    ]
}