{
    "disease_id": "DOID:0110140",
    "recommended_name": {
        "id": "DOID:0110140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110140",
        "name": "Bardet-Biedl syndrome 18",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110140",
            "name": "BBS18",
            "description": ""
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "Bardet-Biedl syndrome 18",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene."
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "BBIP1 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "BBS18",
            "description": ""
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "Bardet-Biedl syndrome 18",
            "description": ""
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "Bardet-Biedl syndrome caused by mutation in BBIP1",
            "description": ""
        },
        {
            "id": "MONDO:0014446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "name": "Bardet-Biedl syndrome type 18",
            "description": ""
        },
        {
            "id": "MIM:615995",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615995",
            "name": "Bardet-Biedl syndrome 18",
            "description": "Bardet-Biedl syndrome 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110140",
            "categories": []
        },
        {
            "id": "MONDO:0014446",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014446",
            "categories": []
        },
        {
            "id": "MIM:615995",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615995",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8Y6-1",
            "uniprot_ac": "Q1L8Y6",
            "uniprot_id": "BBIP1_DANRE",
            "refseq_ac": "NP_001159595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "BBSome interacting protein 10",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein of 10 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bbip1",
                    "type": "recommended"
                },
                {
                    "name": "bbip10",
                    "type": "synonym"
                },
                {
                    "name": "bbip1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-159c12.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197i12.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8Y6-1",
            "evidence": [
                {
                    "id": "0110140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "J3QMK2-1",
            "uniprot_ac": "J3QMK2",
            "uniprot_id": "J3QMK2_MOUSE",
            "refseq_ac": "NP_001182267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein of 10 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbip1",
                    "type": "recommended"
                },
                {
                    "name": "2310002J21Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610002B11Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930560M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bbip1",
                    "type": "synonym"
                },
                {
                    "name": "Ncrna00081",
                    "type": "synonym"
                }
            ],
            "record_id": "J3QMK2-1",
            "evidence": [
                {
                    "id": "0110140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8MTZ0-1",
            "uniprot_ac": "A8MTZ0",
            "uniprot_id": "BBIP1_HUMAN",
            "refseq_ac": "NP_001182233",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "BBSome-interacting protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein of 10 kDa",
                    "type": "synonym"
                },
                {
                    "name": "UPF0604 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBIP1",
                    "type": "recommended"
                },
                {
                    "name": "BBIP10",
                    "type": "synonym"
                },
                {
                    "name": "BBIP1",
                    "type": "synonym"
                },
                {
                    "name": "BBS18",
                    "type": "synonym"
                },
                {
                    "name": "NCRNA00081",
                    "type": "synonym"
                },
                {
                    "name": "bA348N5.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A8MTZ0-1",
            "evidence": [
                {
                    "id": "615995",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615995"
                },
                {
                    "id": "0110140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JT03-1",
            "uniprot_ac": "A0A0G2JT03",
            "uniprot_id": "A0A0G2JT03_RAT",
            "refseq_ac": "NP_001388644",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "BBSome-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbip1",
                    "type": "recommended"
                },
                {
                    "name": "Bbip1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JT03-1",
            "evidence": [
                {
                    "id": "0110140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIG6-1",
            "uniprot_ac": "E1JIG6",
            "uniprot_id": "E1JIG6_DROME",
            "refseq_ac": "NP_001163568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBIP1-PA",
                    "type": "synonym"
                },
                {
                    "name": "BBSome interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CG42511-PA",
                    "type": "synonym"
                },
                {
                    "name": "CPuORF of FBgn0037689",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBIP1",
                    "type": "recommended"
                },
                {
                    "name": "BBIP1",
                    "type": "synonym"
                },
                {
                    "name": "CG42511",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42511",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42511",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIG6-1",
            "evidence": [
                {
                    "id": "0110140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110140"
}