{
    "disease_id": "DOID:0110274",
    "recommended_name": {
        "id": "DOID:0110274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110274",
        "name": "autosomal recessive limb-girdle muscular dystrophy",
        "description": "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy."
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "CAPN3 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "LGMD2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "Leyden-Moebius muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "calpainopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy due to calpain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy, limb-girdle, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "primary calpainopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "LGMD2",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy limb girdle type 2A, erb type",
            "description": ""
        },
        {
            "id": "MIM:253600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253600",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 1",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061130",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061131",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061132",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061133",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061134",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 29",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080762",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110275",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110276",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110277",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110278",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110279",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110280",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2F",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110281",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110282",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2H",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110283",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2J",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110284",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2L",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110285",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110287",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2S",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110288",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2W",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110289",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110290",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2X",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110292",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110293",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110294",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110295",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110296",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110297",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110298",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110299",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110298",
        "DOID:0061134",
        "DOID:0080762",
        "DOID:0110282",
        "DOID:0061131",
        "DOID:0110284",
        "DOID:0110277",
        "DOID:0110274",
        "DOID:0061130",
        "DOID:0110276",
        "DOID:0110278",
        "DOID:0061132",
        "DOID:0110299",
        "DOID:0110285",
        "DOID:0110280",
        "DOID:0110293",
        "DOID:0110287",
        "DOID:0110295",
        "DOID:0110289",
        "DOID:0110297",
        "DOID:0110292",
        "DOID:0061133",
        "DOID:0110283",
        "DOID:0110281",
        "DOID:0110275",
        "DOID:0110288",
        "DOID:0110296",
        "DOID:0110294",
        "DOID:0110290",
        "DOID:0110279"
    ],
    "unlinked_id_list": []
}
