{
    "disease_id": "DOID:0110275",
    "recommended_name": {
        "id": "DOID:0110275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110275",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."
    },
    "synonyms": [
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "limb-girdle muscular dystrophy due to calpain deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "LGMD2A",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "Leyden-Moebius muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "muscular dystrophy, limb-girdle, type 2A",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "pelvofemoral muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "primary calpainopathy",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0110275"
    ],
    "unlinked_id_list": []
}