{
    "disease_id": "DOID:0060847",
    "recommended_name": {
        "id": "DOID:0060847",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060847",
        "name": "Leri-Weill dyschondrosteosis",
        "description": "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."
    },
    "synonyms": [
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis",
            "description": "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)."
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Lri-Weill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "LWD",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "LC)ri-Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "LC)ri-Weill syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Lri-Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis; LWD",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "DCo",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Madelung deformity",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri-Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "Leri Weill dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0007481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007481",
            "name": "dyschondrosteosis",
            "description": ""
        },
        {
            "id": "MIM:127300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/127300",
            "name": "Leri-Weill dyschondrosteosis",
            "description": "Leri-Weill dyschondrosteosis"
        }
    ]
}