{
    "disease_id": "DOID:0110283",
    "recommended_name": {
        "id": "DOID:0110283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110283",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2J",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)."
    },
    "synonyms": [
        {
            "id": "DOID:0110283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110283",
            "name": "LGMD2J",
            "description": ""
        },
        {
            "id": "DOID:0110283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110283",
            "name": "muscular dystrophy, limb-girdle, type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2J",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "LGMD2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "TTN autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 10",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "muscular dystrophy, limb-girdle, type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "limb-girdle muscular dystrophy type 2J",
            "description": ""
        },
        {
            "id": "MIM:608807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608807",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 10",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110283"
    ],
    "unlinked_id_list": []
}