{
    "disease_id": "DOID:0110126",
    "recommended_name": {
        "id": "DOID:0110126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110126",
        "name": "Bardet-Biedl syndrome 4",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110126",
            "name": "BBS4",
            "description": ""
        },
        {
            "id": "MONDO:0014433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014433",
            "name": "Bardet-Biedl syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014433",
            "name": "BBS4",
            "description": ""
        },
        {
            "id": "MONDO:0014433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014433",
            "name": "Bardet-Biedl syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014433",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014433",
            "name": "Bardet-Biedl syndrome type 4",
            "description": ""
        },
        {
            "id": "MIM:615982",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615982",
            "name": "Bardet-Biedl syndrome 4",
            "description": "Bardet-Biedl syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110126",
            "categories": []
        },
        {
            "id": "MONDO:0014433",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014433",
            "categories": []
        },
        {
            "id": "MIM:615982",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615982",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EXH4-1",
            "uniprot_ac": "E7EXH4",
            "uniprot_id": "E7EXH4_DANRE",
            "refseq_ac": "NP_001070934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS4",
                    "type": "recommended"
                },
                {
                    "name": "BBSome complex member BBS4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bbs4",
                    "type": "recommended"
                },
                {
                    "name": "bbs4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152964",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXH4-1",
            "evidence": [
                {
                    "id": "0110126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C1Z7-1",
            "uniprot_ac": "Q8C1Z7",
            "uniprot_id": "BBS4_MOUSE",
            "refseq_ac": "NP_780534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS4",
                    "type": "recommended"
                },
                {
                    "name": "BBSome complex member BBS4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome complex member BBS4",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 4 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs4",
                    "type": "recommended"
                },
                {
                    "name": "Bbs4",
                    "type": "synonym"
                },
                {
                    "name": "D9Ertd464e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C1Z7-1",
            "evidence": [
                {
                    "id": "0110126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RK4-1",
            "uniprot_ac": "Q96RK4",
            "uniprot_id": "BBS4_HUMAN",
            "refseq_ac": "NP_001239607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS4",
                    "type": "recommended"
                },
                {
                    "name": "BBSome complex member BBS4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BBSome complex member BBS4",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 4 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS4",
                    "type": "recommended"
                },
                {
                    "name": "BBS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RK4-1",
            "evidence": [
                {
                    "id": "615982",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615982"
                },
                {
                    "id": "0110126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHB5-1",
            "uniprot_ac": "A0A8I6AHB5",
            "uniprot_id": "A0A8I6AHB5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS4",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AHB5-1",
            "evidence": [
                {
                    "id": "0110126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8E9-1",
            "uniprot_ac": "A1Z8E9",
            "uniprot_id": "BBS4_DROME",
            "refseq_ac": "NP_610636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BBS4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 4, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "CG13232-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS4",
                    "type": "recommended"
                },
                {
                    "name": "BBS4",
                    "type": "synonym"
                },
                {
                    "name": "CG13232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13232",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8E9-1",
            "evidence": [
                {
                    "id": "0110126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110126"
}