{
    "disease_id": "DOID:0081009",
    "recommended_name": {
        "id": "DOID:0081009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081009",
        "name": "Bardet-Biedl syndrome 20",
        "description": "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "MONDO:0023670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023670",
            "name": "Bardet-Biedl syndrome 20",
            "description": ""
        },
        {
            "id": "MONDO:0023670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023670",
            "name": "BBS20",
            "description": ""
        },
        {
            "id": "MIM:619471",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619471",
            "name": "Bardet-Biedl syndrome 20",
            "description": "Bardet-Biedl syndrome 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081009"
    ],
    "unlinked_id_list": []
}