{
    "disease_id": "DOID:0110279",
    "recommended_name": {
        "id": "DOID:0110279",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110279",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2E",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110279",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110279",
            "name": "Beta-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0110279",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110279",
            "name": "LGMD2E",
            "description": ""
        },
        {
            "id": "DOID:0110279",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110279",
            "name": "muscular dystrophy, limb-girdle, type 2E",
            "description": ""
        },
        {
            "id": "DOID:0110279",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110279",
            "name": "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2E",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed."
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "beta-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "LGMD due to beta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "LGMD type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "LGMD2E",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "LGMDR4",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "SGCB autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "beta-sarcoglycan-related LGMD R4",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "beta-sarcoglycan-related limb-girdle muscular dystrophy R4",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "limb-girdle muscular dystrophy type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "muscular dystrophy, limb-girdle, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "beta-sarcoglycan limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011423",
            "name": "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MIM:604286",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604286",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 4",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110279"
    ],
    "unlinked_id_list": []
}