{
    "disease_id": "DOID:0080672",
    "recommended_name": {
        "id": "DOID:0080672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080672",
        "name": "fibrochondrogenesis 1",
        "description": "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis 1",
            "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene."
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "COL11A1 fibrochondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis caused by mutation in COL11A1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "FBCG1",
            "description": ""
        },
        {
            "id": "MIM:228520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228520",
            "name": "Fibrochondrogenesis 1",
            "description": "Fibrochondrogenesis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080672"
    ],
    "unlinked_id_list": []
}