{
    "disease_id": "DOID:0110276",
    "recommended_name": {
        "id": "DOID:0110276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110276",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2B",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "LGMD2B",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "LGMD3",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "limb-girdle muscular dystrophy type 3",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "limb-girdle muscular dystrophy due to dysferlin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2B",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "DYSF autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "LGMD2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "LGMD3",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy due to dysferlin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "muscular dystrophy, limb-girdle, type 2B",
            "description": ""
        },
        {
            "id": "MIM:253601",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253601",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 2",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110276"
    ],
    "unlinked_id_list": []
}