{
    "disease_id": "DOID:0110131",
    "recommended_name": {
        "id": "DOID:0110131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110131",
        "name": "Bardet-Biedl syndrome 9",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "DOID:0110131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110131",
            "name": "BBS9",
            "description": ""
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "Bardet-Biedl syndrome 9",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene."
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "BBS9",
            "description": ""
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "BBS9 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "Bardet-Biedl syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "Bardet-Biedl syndrome caused by mutation in BBS9",
            "description": ""
        },
        {
            "id": "MONDO:0014437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "name": "Bardet-Biedl syndrome type 9",
            "description": ""
        },
        {
            "id": "MIM:615986",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615986",
            "name": "Bardet-Biedl syndrome 9",
            "description": "Bardet-Biedl syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110131",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110131",
            "categories": []
        },
        {
            "id": "MONDO:0014437",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014437",
            "categories": []
        },
        {
            "id": "MIM:615986",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615986",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AT49-1",
            "uniprot_ac": "A0A8M3AT49",
            "uniprot_id": "A0A8M3AT49_DANRE",
            "refseq_ac": "XP_009290332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PTHB1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bbs9",
                    "type": "recommended"
                },
                {
                    "name": "bbs9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AT49-1",
            "evidence": [
                {
                    "id": "0110131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q811G0-1",
            "uniprot_ac": "Q811G0",
            "uniprot_id": "PTHB1_MOUSE",
            "refseq_ac": "NP_848502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PTHB1",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 9 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "EST 3159894",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone-responsive B1 gene protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 9 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-responsive B1 gene protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs9",
                    "type": "recommended"
                },
                {
                    "name": "Bbs9",
                    "type": "synonym"
                },
                {
                    "name": "E130103I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pthb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q811G0-1",
            "evidence": [
                {
                    "id": "0110131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SYG4-1",
            "uniprot_ac": "Q3SYG4",
            "uniprot_id": "PTHB1_HUMAN",
            "refseq_ac": "NP_001028776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PTHB1",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 9 protein",
                    "type": "synonym"
                },
                {
                    "name": "PTH-responsive osteosarcoma B1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone-responsive B1 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 9 protein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-responsive B1 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS9",
                    "type": "recommended"
                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "BBS9",
                    "type": "synonym"
                },
                {
                    "name": "C18",
                    "type": "synonym"
                },
                {
                    "name": "D1",
                    "type": "synonym"
                },
                {
                    "name": "PTHB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SYG4-1",
            "evidence": [
                {
                    "id": "615986",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615986"
                },
                {
                    "id": "0110131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1B0GWY0-1",
            "uniprot_ac": "A0A1B0GWY0",
            "uniprot_id": "A0A1B0GWY0_RAT",
            "refseq_ac": "XP_063121428",
            "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 9",
                    "type": "synonym"
                },
                {
                    "name": "protein PTHB1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs9",
                    "type": "recommended"
                },
                {
                    "name": "Bbs9",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308472",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1B0GWY0-1",
            "evidence": [
                {
                    "id": "0110131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZM8-1",
            "uniprot_ac": "B7YZM8",
            "uniprot_id": "B7YZM8_DROME",
            "refseq_ac": "NP_001137727",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBS9-PD",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 9",
                    "type": "synonym"
                },
                {
                    "name": "CG15666-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS9",
                    "type": "recommended"
                },
                {
                    "name": "BBS9",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH67628",
                    "type": "synonym"
                },
                {
                    "name": "CG15666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15666",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZM8-1",
            "evidence": [
                {
                    "id": "0110131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110131"
}