{
    "disease_id": "DOID:0110281",
    "recommended_name": {
        "id": "DOID:0110281",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110281",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2G",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."
    },
    "synonyms": [
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110281",
            "name": "LGMD2G",
            "description": ""
        },
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110281",
            "name": "muscular dystrophy, limb-girdle, type 2G",
            "description": ""
        },
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110281",
            "name": "limb-girdle muscular dystrophy due to telethonin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2G",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "LGMD2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "muscular dystrophy, limb-girdle, type 2G; LGMD2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "limb-girdle muscular dystrophy, type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "muscular dystrophy, limb-girdle, type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "TCAP autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "Tcap autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "limb-girdle muscular dystrophy due to telethonin deficiency",
            "description": ""
        },
        {
            "id": "MIM:601954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601954",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 7",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 7"
        }
    ]
}