{
    "disease_id": "DOID:0060943",
    "recommended_name": {
        "id": "DOID:0060943",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060943",
        "name": "Ullrich congenital muscular dystrophy 1C",
        "description": "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0958236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958236",
            "name": "Ullrich congenital muscular dystrophy 1C",
            "description": ""
        },
        {
            "id": "MIM:620728",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620728",
            "name": "Ullrich congenital muscular dystrophy 1C",
            "description": "Ullrich congenital muscular dystrophy 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060943"
    ],
    "unlinked_id_list": []
}