{
    "disease_id": "DOID:0110136",
    "recommended_name": {
        "id": "DOID:0110136",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110136",
        "name": "Bardet-Biedl syndrome 14",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110136",
            "name": "BBS14",
            "description": ""
        },
        {
            "id": "MONDO:0014442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "name": "Bardet-Biedl syndrome 14",
            "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21."
        },
        {
            "id": "MONDO:0014442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "name": "BBS14",
            "description": ""
        },
        {
            "id": "MONDO:0014442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "name": "Bardet-Biedl syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0014442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "name": "Bardet-Biedl syndrome 14, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0014442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "name": "Bardet-Biedl syndrome type 14",
            "description": ""
        },
        {
            "id": "MIM:615991",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615991",
            "name": "Bardet-Biedl syndrome 14",
            "description": "Bardet-Biedl syndrome 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110136"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110136",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110136",
            "categories": []
        },
        {
            "id": "MONDO:0014442",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014442",
            "categories": []
        },
        {
            "id": "MIM:615991",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615991",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M3AZL6",
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                    "common_name": "Zebrafish",
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                }
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                    "type": "synonym"
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                    "type": "recommended"
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                }
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                }
            ],
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                    "name": "b2b1454Clo",
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                }
            ],
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                {
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                    "type": "recommended"
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                    "name": "5330408M12Rik",
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                },
                {
                    "name": "B230117O07",
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                    "name": "b2b1163.1Clo",
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                    "name": "b2b1291.1Clo",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Centrosomal protein of 290 kDa",
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                    "name": "CTCL tumor antigen se2-2",
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                    "name": "Cancer/testis antigen 87",
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                    "name": "Cep290",
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                    "name": "cancer/testis antigen 87",
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                    "name": "prostate cancer antigen T21",
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110136"
}