{
    "disease_id": "DOID:0110128",
    "recommended_name": {
        "id": "DOID:0110128",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110128",
        "name": "Bardet-Biedl syndrome 6",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110128",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110128",
            "name": "BBS6",
            "description": ""
        },
        {
            "id": "MONDO:0011523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011523",
            "name": "Bardet-Biedl syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0011523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011523",
            "name": "BBS6",
            "description": ""
        },
        {
            "id": "MONDO:0011523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011523",
            "name": "Bardet-Biedl syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0011523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011523",
            "name": "Bardet-Biedl syndrome type 6",
            "description": ""
        },
        {
            "id": "MIM:605231",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605231",
            "name": "Bardet-Biedl syndrome 6",
            "description": "Bardet-Biedl syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110128"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110128",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110128",
            "categories": []
        },
        {
            "id": "MONDO:0011523",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011523",
            "categories": []
        },
        {
            "id": "MIM:605231",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605231",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QNB5-1",
            "uniprot_ac": "A0A8M9QNB5",
            "uniprot_id": "A0A8M9QNB5_DANRE",
            "refseq_ac": "XP_021336215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molecular chaperone MKKS isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "molecular chaperone MKKS isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mkks",
                    "type": "recommended"
                },
                {
                    "name": "bbs6",
                    "type": "synonym"
                },
                {
                    "name": "mkks",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55608",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QNB5-1",
            "evidence": [
                {
                    "id": "0110128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI70-1",
            "uniprot_ac": "Q9JI70",
            "uniprot_id": "MKKS_MOUSE",
            "refseq_ac": "NP_001135418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molecular chaperone MKKS",
                    "type": "recommended"
                },
                {
                    "name": "MKKS protein",
                    "type": "synonym"
                },
                {
                    "name": "McKusick-Kaufman syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin",
                    "type": "synonym"
                },
                {
                    "name": "Protein Bbs6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin",
                    "type": "synonym"
                },
                {
                    "name": "molecular chaperone MKKS isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "molecular chaperone MKKS",
                    "type": "synonym"
                },
                {
                    "name": "protein Bbs6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mkks",
                    "type": "recommended"
                },
                {
                    "name": "1300013E18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bbs6",
                    "type": "synonym"
                },
                {
                    "name": "Mkks",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI70-1",
            "evidence": [
                {
                    "id": "0110128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPJ1-1",
            "uniprot_ac": "Q9NPJ1",
            "uniprot_id": "MKKS_HUMAN",
            "refseq_ac": "NP_061336",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molecular chaperone MKKS",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin",
                    "type": "synonym"
                },
                {
                    "name": "alternative protein MKKS",
                    "type": "synonym"
                },
                {
                    "name": "molecular chaperone MKKS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MKKS",
                    "type": "recommended"
                },
                {
                    "name": "BBS6",
                    "type": "synonym"
                },
                {
                    "name": "HMCS",
                    "type": "synonym"
                },
                {
                    "name": "KMS",
                    "type": "synonym"
                },
                {
                    "name": "MKKS",
                    "type": "synonym"
                },
                {
                    "name": "MKS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPJ1-1",
            "evidence": [
                {
                    "id": "605231",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605231"
                },
                {
                    "id": "0110128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110128"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110128"
}