{
    "disease_id": "DOID:0110295",
    "recommended_name": {
        "id": "DOID:0110295",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110295",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2U",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110295",
            "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110295",
            "name": "LGMD2U",
            "description": ""
        },
        {
            "id": "DOID:0110295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110295",
            "name": "MDDGC7",
            "description": ""
        },
        {
            "id": "DOID:0110295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110295",
            "name": "muscular dystrophy limb-girdle type 2U",
            "description": ""
        },
        {
            "id": "DOID:0110295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110295",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7",
            "description": ""
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2U",
            "description": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene."
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "ISPD autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "LGMD2U",
            "description": ""
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "MDDGC7",
            "description": ""
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD",
            "description": ""
        },
        {
            "id": "MONDO:0014474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014474",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7",
            "description": ""
        },
        {
            "id": "MIM:616052",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616052",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C7",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110295"
    ],
    "unlinked_id_list": []
}