{
    "disease_id": "DOID:0111367",
    "recommended_name": {
        "id": "DOID:0111367",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111367",
        "name": "Beukes hip dysplasia",
        "description": "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111367",
            "name": "BFHD",
            "description": ""
        },
        {
            "id": "DOID:0111367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111367",
            "name": "Beukes familial hip dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111367",
            "name": "Beukes type hip dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111367",
            "name": "Cilliers-Beighton syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111367",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111367",
            "name": "Premature degenerative osteoarthropathy of the hip",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "hip dysplasia, Beukes type",
            "description": "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing."
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "osteoarthropathy, premature degenerative, of hip",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "Beukes hip dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "BFHD",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "hip dysplasia, Beukes type",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "premature degenerative osteoarthropathy of the hip",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "Beukes hip dysplasia; BHD",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "Cilliers-Beighton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "hip dysplasia Beukes type",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "Beukes familial hip dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007726",
            "name": "BHD",
            "description": ""
        },
        {
            "id": "MIM:142669",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/142669",
            "name": "Beukes familial hip dysplasia",
            "description": "Beukes familial hip dysplasia"
        }
    ]
}