{
    "disease_id": "DOID:1935", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008854", 
            "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.", 
            "resource": "MONDO", 
            "id": "MONDO:0008854", 
            "name": "Bardet-Biedl syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008854", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008854", 
            "name": "BBS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008854", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008854", 
            "name": "Bardet-Biedl syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008854", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008854", 
            "name": "Bardet-Biedl syndrome 1; BBS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008854", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008854", 
            "name": "Bardet-Biedl syndrome type 1"
        }, 
        {
            "url": "https://www.omim.org/entry/209900", 
            "description": "Bardet-Biedl syndrome", 
            "resource": "MIM", 
            "id": "MIM:209900", 
            "name": "Bardet-Biedl syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:1935", 
        "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", 
        "resource": "Disease Ontology", 
        "id": "DOID:1935", 
        "name": "Bardet-Biedl syndrome"
    }
}