{
    "disease_id": "DOID:0110133",
    "recommended_name": {
        "id": "DOID:0110133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110133",
        "name": "Bardet-Biedl syndrome 11",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110133",
            "name": "BBS11",
            "description": ""
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "Bardet-Biedl syndrome 11",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene."
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "BBS11",
            "description": ""
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "Bardet-Biedl syndrome 11",
            "description": ""
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "Bardet-Biedl syndrome caused by mutation in TRIM32",
            "description": ""
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "Bardet-Biedl syndrome type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "name": "TRIM32 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:615988",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615988",
            "name": "Bardet-Biedl syndrome 11",
            "description": "Bardet-Biedl syndrome 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110133"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110133",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110133",
            "categories": []
        },
        {
            "id": "MONDO:0014439",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014439",
            "categories": []
        },
        {
            "id": "MIM:615988",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615988",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7G1-1",
            "uniprot_ac": "A0ACD6B7G1",
            "uniprot_id": "A0ACD6B7G1_DANRE",
            "refseq_ac": "XP_005174738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trim32",
                    "type": "recommended"
                },
                {
                    "name": "trim32",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7G1-1",
            "evidence": [
                {
                    "id": "0110133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CH72-1",
            "uniprot_ac": "Q8CH72",
            "uniprot_id": "TRI32_MOUSE",
            "refseq_ac": "NP_001155254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 32",
                    "type": "synonym"
                },
                {
                    "name": "bM468K2.2 (tripartite motif protein 32)",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein 32",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 32",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 117",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim32",
                    "type": "recommended"
                },
                {
                    "name": "1810045E12Rik",
                    "type": "synonym"
                },
                {
                    "name": "3f3",
                    "type": "synonym"
                },
                {
                    "name": "BBS11",
                    "type": "synonym"
                },
                {
                    "name": "Trim32",
                    "type": "synonym"
                },
                {
                    "name": "Zfp117",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CH72-1",
            "evidence": [
                {
                    "id": "0110133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13049-1",
            "uniprot_ac": "Q13049",
            "uniprot_id": "TRI32_HUMAN",
            "refseq_ac": "NP_001093149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "72 kDa Tat-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "TAT-interactive protein, 72-KD",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 32",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein HT2A",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 32",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger protein HT2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM32",
                    "type": "recommended"
                },
                {
                    "name": "BBS11",
                    "type": "synonym"
                },
                {
                    "name": "HT2A",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2H",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR8",
                    "type": "synonym"
                },
                {
                    "name": "TATIP",
                    "type": "synonym"
                },
                {
                    "name": "TRIM32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13049-1",
            "evidence": [
                {
                    "id": "615988",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615988"
                },
                {
                    "id": "0110133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H79-1",
            "uniprot_ac": "Q66H79",
            "uniprot_id": "Q66H79_RAT",
            "refseq_ac": "NP_001012103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM32",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 32",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif protein 32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim32",
                    "type": "recommended"
                },
                {
                    "name": "Trim32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H79-1",
            "evidence": [
                {
                    "id": "0110133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110133"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110133"
}