{
    "disease_id": "DOID:0110277",
    "recommended_name": {
        "id": "DOID:0110277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110277",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "autosomal recessive Duchenne-like muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "severe childhood autosomal recessive muscular dystrophy North African type",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "DMDA1",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "LGMD2C",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "Maghrebian myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "SCARMD",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "deficiency of sarcoglycan gamma",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "gamma-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "muscular dystrophy, limb-girdle, type 2C",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported."
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "DMDA1",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "LGMD2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "Maghrebian myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "SCARMD",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "SGCG autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "gamma-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "muscular dystrophy, limb-girdle, type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy, type 2C",
            "description": ""
        },
        {
            "id": "MIM:253700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253700",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 5",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110277"
    ],
    "unlinked_id_list": []
}