{
    "disease_id": "DOID:0080672", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009226", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009226", 
            "name": "fibrochondrogenesis type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009226", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009226", 
            "name": "FBCG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009226", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009226", 
            "name": "COL11A1 fibrochondrogenesis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009226", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009226", 
            "name": "fibrochondrogenesis caused by mutation in COL11A1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009226", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009226", 
            "name": "fibrochondrogenesis 1; FBCG1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080672", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080672", 
        "name": "fibrochondrogenesis 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080672#disease-associations", 
            "id": "0080672", 
            "database": "Alliance of Genome Resources"
        }
    ]
}