{
    "disease_id": "DOID:0110123",
    "recommended_name": {
        "id": "DOID:0110123",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110123",
        "name": "Bardet-Biedl syndrome 1",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110123",
            "name": "BBS1",
            "description": ""
        },
        {
            "id": "MONDO:0008854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "name": "Bardet-Biedl syndrome 1",
            "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13."
        },
        {
            "id": "MONDO:0008854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "name": "BBS1",
            "description": ""
        },
        {
            "id": "MONDO:0008854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "name": "Bardet-Biedl syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "name": "Bardet-Biedl syndrome 1, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0008854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "name": "Bardet-Biedl syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:209900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209900",
            "name": "Bardet-Biedl syndrome",
            "description": "Bardet-Biedl syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110123"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110123",
            "categories": []
        },
        {
            "id": "MONDO:0008854",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008854",
            "categories": []
        },
        {
            "id": "MIM:209900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/209900",
            "categories": []
        }
    ],
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            "uniprot_ac": "B8A4M8",
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                }
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                    "name": "si:dkey-71p21.10",
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                }
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                }
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                }
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            ],
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                {
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                    "name": "1110002E08Rik",
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                {
                    "name": "1810010N17Rik",
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                {
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            ],
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                    "id": "0110123",
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            ]
        },
        {
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            "glycoprotein": "yes",
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                {
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
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                {
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                {
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                {
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            ],
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                    "name": "2210411E14Rik",
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                }
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                    "name": "Bardet-Biedl syndrome 1 ortholog",
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                    "name": "Bardet-Biedl syndrome 1",
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                    "id": "0110123",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 6",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor-like 6, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Arl6-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG7735-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl6",
                    "type": "recommended"
                },
                {
                    "name": "A1ZBK9",
                    "type": "synonym"
                },
                {
                    "name": "ARL6",
                    "type": "synonym"
                },
                {
                    "name": "Arl6",
                    "type": "synonym"
                },
                {
                    "name": "BBS3",
                    "type": "synonym"
                },
                {
                    "name": "CG7735",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7735",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7735",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBK9-1",
            "evidence": [
                {
                    "id": "0110123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0F7-1",
            "uniprot_ac": "Q9H0F7",
            "uniprot_id": "ARL6_HUMAN",
            "refseq_ac": "NP_001265222",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 6",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 6",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ARL6 interacting reticulophagy regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 3 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARL6",
                    "type": "recommended"
                },
                {
                    "name": "ARL6",
                    "type": "synonym"
                },
                {
                    "name": "BBS3",
                    "type": "synonym"
                },
                {
                    "name": "RP55",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0F7-1",
            "evidence": [
                {
                    "id": "0110123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110123"
}