{
    "disease_id": "DOID:0081010",
    "recommended_name": {
        "id": "DOID:0081010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081010",
        "name": "Bardet-Biedl syndrome 21",
        "description": "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0044308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044308",
            "name": "bardet-biedl syndrome 21",
            "description": "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)."
        },
        {
            "id": "MONDO:0044308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044308",
            "name": "BBS21",
            "description": ""
        },
        {
            "id": "MIM:617406",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617406",
            "name": "Bardet-Biedl syndrome 21",
            "description": "Bardet-Biedl syndrome 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081010"
    ],
    "unlinked_id_list": []
}