{
    "disease_id": "DOID:0110130",
    "recommended_name": {
        "id": "DOID:0110130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110130",
        "name": "Bardet-Biedl syndrome 8",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110130",
            "name": "BBS8",
            "description": ""
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "Bardet-Biedl syndrome 8",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene."
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "BBS8",
            "description": ""
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "Bardet-Biedl syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "Bardet-Biedl syndrome caused by mutation in TTC8",
            "description": ""
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "Bardet-Biedl syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "name": "TTC8 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:615985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615985",
            "name": "Bardet-Biedl syndrome 8",
            "description": "Bardet-Biedl syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110130",
            "categories": []
        },
        {
            "id": "MONDO:0014436",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014436",
            "categories": []
        },
        {
            "id": "MIM:615985",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615985",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VD72-1",
            "uniprot_ac": "Q8VD72",
            "uniprot_id": "TTC8_MOUSE",
            "refseq_ac": "NP_083829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 8",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 8 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 8",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 8 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc8",
                    "type": "recommended"
                },
                {
                    "name": "0610012F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "BBS8",
                    "type": "synonym"
                },
                {
                    "name": "Bbs8",
                    "type": "synonym"
                },
                {
                    "name": "Ttc8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VD72-1",
            "evidence": [
                {
                    "id": "0110130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TAM2-1",
            "uniprot_ac": "Q8TAM2",
            "uniprot_id": "TTC8_HUMAN",
            "refseq_ac": "NP_001275710",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 8",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 8 protein",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome type 8",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 8",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 8 isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTC8",
                    "type": "recommended"
                },
                {
                    "name": "BBS8",
                    "type": "synonym"
                },
                {
                    "name": "RP51",
                    "type": "synonym"
                },
                {
                    "name": "TTC8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TAM2-1",
            "evidence": [
                {
                    "id": "615985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615985"
                },
                {
                    "id": "0110130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZJC8-1",
            "uniprot_ac": "A0A8I5ZJC8",
            "uniprot_id": "A0A8I5ZJC8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat domain 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZJC8-1",
            "evidence": [
                {
                    "id": "0110130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPP9-1",
            "uniprot_ac": "Q9VPP9",
            "uniprot_id": "Q9VPP9_DROME",
            "refseq_ac": "NP_608524",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBS8-PA",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 8 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 8",
                    "type": "synonym"
                },
                {
                    "name": "CG13691-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS8",
                    "type": "recommended"
                },
                {
                    "name": "BBS2",
                    "type": "synonym"
                },
                {
                    "name": "BBS8",
                    "type": "synonym"
                },
                {
                    "name": "CG13691",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13691",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13691",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPP9-1",
            "evidence": [
                {
                    "id": "0110130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110130"
}