{
    "disease_id": "DOID:0110138",
    "recommended_name": {
        "id": "DOID:0110138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110138",
        "name": "Bardet-Biedl syndrome 16",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "DOID:0110138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110138",
            "name": "BBS16",
            "description": ""
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "Bardet-Biedl syndrome 16",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene."
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "BBS16",
            "description": ""
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "Bardet-Biedl syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "Bardet-Biedl syndrome caused by mutation in SDCCAG8",
            "description": ""
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "Bardet-Biedl syndrome type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "name": "SDCCAG8 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:615993",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615993",
            "name": "Bardet-Biedl syndrome 16",
            "description": "Bardet-Biedl syndrome 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110138",
            "categories": []
        },
        {
            "id": "MONDO:0014444",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014444",
            "categories": []
        },
        {
            "id": "MIM:615993",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615993",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JK76-1",
            "uniprot_ac": "B8JK76",
            "uniprot_id": "SDCG8_DANRE",
            "refseq_ac": "XP_021336267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serologically defined colon cancer antigen 8 homolog",
                    "type": "recommended"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "sdccag8",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-60B15.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-60b15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JK76-1",
            "evidence": [
                {
                    "id": "0110138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UF4-1",
            "uniprot_ac": "Q80UF4",
            "uniprot_id": "SDCG8_MOUSE",
            "refseq_ac": "NP_084032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serologically defined colon cancer antigen 8 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "mCCCAP",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "2700048G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730470G24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cccap",
                    "type": "synonym"
                },
                {
                    "name": "Sdccag8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UF4-1",
            "evidence": [
                {
                    "id": "0110138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SQ7-1",
            "uniprot_ac": "Q86SQ7",
            "uniprot_id": "SDCG8_HUMAN",
            "refseq_ac": "NP_006633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serologically defined colon cancer antigen 8",
                    "type": "recommended"
                },
                {
                    "name": "Antigen NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 16",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "hCCCAP",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin 10",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDCCAG8",
                    "type": "recommended"
                },
                {
                    "name": "BBS16",
                    "type": "synonym"
                },
                {
                    "name": "CCCAP SLSN7",
                    "type": "synonym"
                },
                {
                    "name": "CCCAP",
                    "type": "synonym"
                },
                {
                    "name": "HSPC085",
                    "type": "synonym"
                },
                {
                    "name": "NPHP10",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "SDCCAG8",
                    "type": "synonym"
                },
                {
                    "name": "SLSN7",
                    "type": "synonym"
                },
                {
                    "name": "hCCCAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SQ7-1",
            "evidence": [
                {
                    "id": "615993",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615993"
                },
                {
                    "id": "0110138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBR1-1",
            "uniprot_ac": "A0ABK0LBR1",
            "uniprot_id": "A0ABK0LBR1_RAT",
            "refseq_ac": "XP_038946735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SHH signaling and ciliogenesis regulator SDCCAG8",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "Sdccag8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LBR1-1",
            "evidence": [
                {
                    "id": "0110138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF13-1",
            "uniprot_ac": "Q9VF13",
            "uniprot_id": "Q9VF13_DROME",
            "refseq_ac": "NP_732085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calponin homology domain-containing protein DDB_G0272472",
                    "type": "recommended"
                },
                {
                    "name": "CG45105-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG14878",
                    "type": "recommended"
                },
                {
                    "name": "CG31291",
                    "type": "recommended"
                },
                {
                    "name": "CG34275",
                    "type": "recommended"
                },
                {
                    "name": "CG5552",
                    "type": "recommended"
                },
                {
                    "name": "CG14878",
                    "type": "synonym"
                },
                {
                    "name": "CG31291",
                    "type": "synonym"
                },
                {
                    "name": "CG34275",
                    "type": "synonym"
                },
                {
                    "name": "CG45105",
                    "type": "synonym"
                },
                {
                    "name": "CG5552",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45105",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF13-1",
            "evidence": [
                {
                    "id": "0110138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110138"
}