{
    "disease_id": "DOID:0110134",
    "recommended_name": {
        "id": "DOID:0110134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110134",
        "name": "Bardet-Biedl syndrome 12",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "DOID:0110134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110134",
            "name": "BBS12",
            "description": ""
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "Bardet-Biedl syndrome 12",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene."
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "BBS12",
            "description": ""
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "BBS12 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "Bardet-Biedl syndrome 12",
            "description": ""
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "Bardet-Biedl syndrome caused by mutation in BBS12",
            "description": ""
        },
        {
            "id": "MONDO:0014440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "name": "Bardet-Biedl syndrome type 12",
            "description": ""
        },
        {
            "id": "MIM:615989",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615989",
            "name": "Bardet-Biedl syndrome 12",
            "description": "Bardet-Biedl syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110134",
            "categories": []
        },
        {
            "id": "MONDO:0014440",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014440",
            "categories": []
        },
        {
            "id": "MIM:615989",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615989",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8RT44-1",
            "uniprot_ac": "A0A2R8RT44",
            "uniprot_id": "A0A2R8RT44_DANRE",
            "refseq_ac": "NP_001373228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bardet-Biedl syndrome 12 protein",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin-containing T-complex member BBS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bbs12",
                    "type": "recommended"
                },
                {
                    "name": "bbs12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RT44-1",
            "evidence": [
                {
                    "id": "0110134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SUD9-1",
            "uniprot_ac": "Q5SUD9",
            "uniprot_id": "BBS12_MOUSE",
            "refseq_ac": "NP_001008502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chaperonin-containing T-complex member BBS12",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 12 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin-containing T-complex member BBS12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin-containing T-complex member BBS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs12",
                    "type": "recommended"
                },
                {
                    "name": "Bbs12",
                    "type": "synonym"
                },
                {
                    "name": "Gm1805",
                    "type": "synonym"
                },
                {
                    "name": "Gm407",
                    "type": "synonym"
                },
                {
                    "name": "Gm721",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SUD9-1",
            "evidence": [
                {
                    "id": "0110134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZW61-1",
            "uniprot_ac": "Q6ZW61",
            "uniprot_id": "BBS12_HUMAN",
            "refseq_ac": "NP_001171478",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chaperonin-containing T-complex member BBS12",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 12 protein",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin-containing T-complex member BBS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS12",
                    "type": "recommended"
                },
                {
                    "name": "BBS12",
                    "type": "synonym"
                },
                {
                    "name": "C4orf24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZW61-1",
            "evidence": [
                {
                    "id": "615989",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615989"
                },
                {
                    "id": "0110134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZPB0-1",
            "uniprot_ac": "A0A8I5ZPB0",
            "uniprot_id": "A0A8I5ZPB0_RAT",
            "refseq_ac": "NP_001386252",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bardet-Biedl syndrome 12 protein",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs12",
                    "type": "recommended"
                },
                {
                    "name": "Bbs12",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561608",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZPB0-1",
            "evidence": [
                {
                    "id": "0110134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110134"
}