{
    "disease_id": "DOID:0110305",
    "recommended_name": {
        "id": "DOID:0110305",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110305",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 1",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110305",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1E",
            "description": ""
        },
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110305",
            "name": "LGMD1D",
            "description": ""
        },
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110305",
            "name": "muscular dystrophy limb-girdle type 1D",
            "description": ""
        },
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110305",
            "name": "muscular dystrophy limb-girdle type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
            "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy limb-girdle type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1D, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy limb-girdle type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1E; LGMD1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D (DNAJB6)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E (Bushby and Beckmann, 2003)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D",
            "description": ""
        },
        {
            "id": "MIM:603511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603511",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 1",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 1"
        }
    ]
}