{
    "disease_id": "DOID:14261",
    "recommended_name": {
        "id": "DOID:14261",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14261",
        "name": "fragile X syndrome",
        "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function."
    },
    "synonyms": [
        {
            "id": "DOID:14261",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14261",
            "name": "FRAGILE X MENTAL RETARDATION SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:14261",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14261",
            "name": "MARKER X SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:14261",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14261",
            "name": "MARTIN-BELL SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile X syndrome",
            "description": "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities."
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "FRAXA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "primary ovarian insufficiency, fragile X-associated",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "FXS",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile 10 mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile X syndrome; FXS",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile 10 premature ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile 10 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "FraX syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fragile X mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "X-linked mental retardation and macroorchidism",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "Martin-Bell syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "marker 10 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "fra(X) syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "mental retardation, X-linked, associated with Marxq28",
            "description": ""
        },
        {
            "id": "MONDO:0010383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010383",
            "name": "marker X syndrome",
            "description": ""
        },
        {
            "id": "MIM:300624",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300624",
            "name": "Fragile X syndrome",
            "description": "Fragile X syndrome"
        }
    ]
}