{
    "disease_id": "DOID:14261", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:14261", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14261", 
            "name": "FRAGILE X MENTAL RETARDATION SYNDROME"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14261", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14261", 
            "name": "MARTIN-BELL SYNDROME"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14261", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14261", 
            "name": "MARKER X SYNDROME"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "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.", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile X syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile X mental retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "Martin-Bell syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "X-linked mental retardation and macroorchidism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "marker 10 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "FraX syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile 10 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "FRAXA syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "FXS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile X syndrome; FXS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "primary ovarian insufficiency, fragile X-associated"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile 10 premature ovarian failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "marker X syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fragile 10 mental retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "fra(X) syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010383", 
            "name": "mental retardation, X-linked, associated with Marxq28"
        }, 
        {
            "url": "https://www.omim.org/entry/300624", 
            "description": "Fragile X syndrome", 
            "resource": "MIM", 
            "id": "MIM:300624", 
            "name": "Fragile X syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14261", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14261", 
        "name": "fragile X syndrome"
    }
}