{
    "disease_id": "DOID:0111408",
    "recommended_name": {
        "id": "DOID:0111408",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111408",
        "name": "exudative vitreoretinopathy 5",
        "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111408",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111408",
            "name": "EVR5",
            "description": ""
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "exudative vitreoretinopathy 5",
            "description": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene."
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "TSPAN12 exudative vitreoretinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "exudative vitreoretinopathy 5",
            "description": ""
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "exudative vitreoretinopathy caused by mutation in TSPAN12",
            "description": ""
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "exudative vitreoretinopathy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "name": "EVR5",
            "description": ""
        },
        {
            "id": "MIM:613310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613310",
            "name": "Vitreoretinopathy, exudative 5",
            "description": "Vitreoretinopathy, exudative 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111408"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111408",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111408",
            "categories": []
        },
        {
            "id": "MONDO:0013218",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013218",
            "categories": []
        },
        {
            "id": "MIM:613310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BKT6-1",
            "uniprot_ac": "Q8BKT6",
            "uniprot_id": "TSN12_MOUSE",
            "refseq_ac": "NP_766595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-12",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane 4 superfamily member 12",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-12",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspan12",
                    "type": "recommended"
                },
                {
                    "name": "9030619E17",
                    "type": "synonym"
                },
                {
                    "name": "Tm4sf12",
                    "type": "synonym"
                },
                {
                    "name": "Tspan12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BKT6-1",
            "evidence": [
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95859-1",
            "uniprot_ac": "O95859",
            "uniprot_id": "TSN12_HUMAN",
            "refseq_ac": "NP_036470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-12",
                    "type": "recommended"
                },
                {
                    "name": "Tetraspan NET-2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane 4 superfamily member 12",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-12",
                    "type": "synonym"
                },
                {
                    "name": "tetraspan NET-2",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 12",
                    "type": "synonym"
                },
                {
                    "name": "tspan-12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSPAN12",
                    "type": "recommended"
                },
                {
                    "name": "EVR5",
                    "type": "synonym"
                },
                {
                    "name": "NET-2",
                    "type": "synonym"
                },
                {
                    "name": "NET2",
                    "type": "synonym"
                },
                {
                    "name": "PRO1568",
                    "type": "synonym"
                },
                {
                    "name": "TM4SF12",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN12",
                    "type": "synonym"
                }
            ],
            "record_id": "O95859-1",
            "evidence": [
                {
                    "id": "613310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613310"
                },
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q569A2-1",
            "uniprot_ac": "Q569A2",
            "uniprot_id": "TSN12_RAT",
            "refseq_ac": "NP_001015026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-12",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane 4 superfamily member 12",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-12",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-12",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane 4 superfamily member 12",
                    "type": "synonym"
                },
                {
                    "name": "tspan-12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspan12",
                    "type": "recommended"
                },
                {
                    "name": "Tm4sf12",
                    "type": "synonym"
                },
                {
                    "name": "Tspan12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q569A2-1",
            "evidence": [
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQK9-1",
            "uniprot_ac": "Q8IQK9",
            "uniprot_id": "Q8IQK9_DROME",
            "refseq_ac": "NP_729926",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32136-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin 68C, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin 68C, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin68C",
                    "type": "synonym"
                },
                {
                    "name": "Tsp68C-PA",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 68C, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp68C",
                    "type": "recommended"
                },
                {
                    "name": "CG32136",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp68C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32136",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32136",
                    "type": "synonym"
                },
                {
                    "name": "Tsp68C",
                    "type": "synonym"
                },
                {
                    "name": "Tsp68c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQK9-1",
            "evidence": [
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46101-1",
            "uniprot_ac": "O46101",
            "uniprot_id": "TSN2A_DROME",
            "refseq_ac": "NP_001188523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin-2A",
                    "type": "recommended"
                },
                {
                    "name": "CG11415-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tsp2A-PB",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 2A, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp2A",
                    "type": "recommended"
                },
                {
                    "name": "CG11415",
                    "type": "synonym"
                },
                {
                    "name": "D8.7",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp2A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11415",
                    "type": "synonym"
                },
                {
                    "name": "EG:8D8.7",
                    "type": "synonym"
                },
                {
                    "name": "Tsp2A",
                    "type": "synonym"
                },
                {
                    "name": "Tsp2a",
                    "type": "synonym"
                },
                {
                    "name": "tsp2A",
                    "type": "synonym"
                },
                {
                    "name": "tsp2a",
                    "type": "synonym"
                }
            ],
            "record_id": "O46101-1",
            "evidence": [
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24188-1",
            "uniprot_ac": "Q24188",
            "uniprot_id": "LBM_DROME",
            "refseq_ac": "NP_001260757",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein late bloomer",
                    "type": "recommended"
                },
                {
                    "name": "CG2374-PB",
                    "type": "synonym"
                },
                {
                    "name": "late bloomer, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "late bloomer",
                    "type": "synonym"
                },
                {
                    "name": "latebloomer",
                    "type": "synonym"
                },
                {
                    "name": "lbm-PB",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 42E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lbm",
                    "type": "recommended"
                },
                {
                    "name": "CG2374",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp42Em",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2374",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2374",
                    "type": "synonym"
                },
                {
                    "name": "Ibm",
                    "type": "synonym"
                },
                {
                    "name": "LBM",
                    "type": "synonym"
                },
                {
                    "name": "Lbm",
                    "type": "synonym"
                },
                {
                    "name": "lbl",
                    "type": "synonym"
                },
                {
                    "name": "lbm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24188-1",
            "evidence": [
                {
                    "id": "0111408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111408"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111408"
}