{
    "disease_id": "DOID:0110306",
    "recommended_name": {
        "id": "DOID:0110306",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110306",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 3",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110306",
            "name": "LGMD1G",
            "description": ""
        },
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110306",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1G",
            "description": ""
        },
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110306",
            "name": "muscular dystrophy limb-girdle type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1G",
            "description": "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed."
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "HNRNPDL autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "muscular dystrophy limb-girdle type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "limb-girdle muscular dystrophy, type 1G; LGMD1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "limb-girdle muscular dystrophy, type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "limb-girdle muscular dystrophy type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "LGMD1G",
            "description": ""
        },
        {
            "id": "MIM:609115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609115",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 3",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 3"
        }
    ]
}