{
    "disease_id": "DOID:0110129",
    "recommended_name": {
        "id": "DOID:0110129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110129",
        "name": "Bardet-Biedl syndrome 7",
        "description": "A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "DOID:0110129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110129",
            "name": "BBS7",
            "description": ""
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "Bardet-Biedl syndrome 7",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene."
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "BBS7",
            "description": ""
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "BBS7 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "Bardet-Biedl syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "Bardet-Biedl syndrome caused by mutation in BBS7",
            "description": ""
        },
        {
            "id": "MONDO:0014435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "name": "Bardet-Biedl syndrome type 7",
            "description": ""
        },
        {
            "id": "MIM:615984",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615984",
            "name": "Bardet-Biedl syndrome 7",
            "description": "Bardet-Biedl syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110129",
            "categories": []
        },
        {
            "id": "MONDO:0014435",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014435",
            "categories": []
        },
        {
            "id": "MIM:615984",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615984",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K2G4-1",
            "uniprot_ac": "Q8K2G4",
            "uniprot_id": "BBS7_MOUSE",
            "refseq_ac": "NP_082086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS7",
                    "type": "recommended"
                },
                {
                    "name": "BBS2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome complex member BBS7",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "bardet-Biedl syndrome 7 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs7",
                    "type": "recommended"
                },
                {
                    "name": "8430406N16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bbs2l1",
                    "type": "synonym"
                },
                {
                    "name": "Bbs7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2G4-1",
            "evidence": [
                {
                    "id": "0110129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWZ6-1",
            "uniprot_ac": "Q8IWZ6",
            "uniprot_id": "BBS7_HUMAN",
            "refseq_ac": "NP_060660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BBSome complex member BBS7",
                    "type": "recommended"
                },
                {
                    "name": "BBS2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "BBS2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BBSome complex member BBS7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "BBSome complex member BBS7",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BBS7",
                    "type": "recommended"
                },
                {
                    "name": "BBS2L1",
                    "type": "synonym"
                },
                {
                    "name": "BBS7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWZ6-1",
            "evidence": [
                {
                    "id": "615984",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615984"
                },
                {
                    "id": "0110129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7F8V6-1",
            "uniprot_ac": "F7F8V6",
            "uniprot_id": "F7F8V6_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": "Bardet-Biedl syndrome 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bbs7",
                    "type": "recommended"
                }
            ],
            "record_id": "F7F8V6-1",
            "evidence": [
                {
                    "id": "0110129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110129"
}