{
    "disease_id": "DOID:0050558",
    "recommended_name": {
        "id": "DOID:0050558",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050558",
        "name": "Ullrich congenital muscular dystrophy",
        "description": "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes."
    },
    "synonyms": [
        {
            "id": "DOID:0050558",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050558",
            "name": "ULLRICH DISEASE",
            "description": ""
        },
        {
            "id": "DOID:0050558",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050558",
            "name": "Ullrich scleroatonic muscular dystrophy",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0060948",
            "label": "Ullrich congenital muscular dystrophy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060946",
            "label": "Ullrich congenital muscular dystrophy 1A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060942",
            "label": "Ullrich congenital muscular dystrophy 1B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060943",
            "label": "Ullrich congenital muscular dystrophy 1C",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060946",
        "DOID:0060948",
        "DOID:0060943",
        "DOID:0060942",
        "DOID:0050558"
    ],
    "unlinked_id_list": []
}