{
    "disease_id": "DOID:0110304",
    "recommended_name": {
        "id": "DOID:0110304",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110304",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 2",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110304",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110304",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1F",
            "description": ""
        },
        {
            "id": "DOID:0110304",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110304",
            "name": "LGMD1F",
            "description": ""
        },
        {
            "id": "DOID:0110304",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110304",
            "name": "muscular dystrophy limb-girdle type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1F",
            "description": "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed."
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "LGMD1F",
            "description": ""
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "muscular dystrophy limb-girdle type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "muscular dystrophy, limb-girdle, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "limb-girdle muscular dystrophy type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012034",
            "name": "muscular dystrophy, limb-girdle, type 1F",
            "description": ""
        },
        {
            "id": "MIM:608423",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608423",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 2",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110304"
    ],
    "unlinked_id_list": []
}