{
    "disease_id": "DOID:0111533",
    "recommended_name": {
        "id": "DOID:0111533",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111533",
        "name": "gnathodiaphyseal dysplasia",
        "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111533",
            "name": "GDD",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111533",
            "name": "Levin syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111533",
            "name": "gnathodiaphyseal sclerosis",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111533",
            "name": "osteogenesis imperfecta, Levin type",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111533",
            "name": "osteogenesis imperfecta with unusual skeletal lesions",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "gnathodiaphyseal dysplasia",
            "description": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission."
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "GDD",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "gnathodiaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "GNATHODIAPHYSEAL dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "Gnathodiaphyseal sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "Levin syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "osteogenesis imperfecta Levin type",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "osteogenesis imperfecta with unusual skeletal lesions",
            "description": ""
        },
        {
            "id": "MIM:166260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166260",
            "name": "Gnathodiaphyseal dysplasia",
            "description": "Gnathodiaphyseal dysplasia"
        }
    ]
}