{
    "disease_id": "DOID:0111567",
    "recommended_name": {
        "id": "DOID:0111567",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111567",
        "name": "retinal vasculopathy with cerebral leukodystrophy",
        "description": "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "retinal vasculopathy and cerebral leukoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "CRV",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "RVCL",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "RVCL-S",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "hereditary cerebroretinal vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "name": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",
            "description": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction."
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "RVCL",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "RVCL-S",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "hereditary vascular retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "retinal vasculopathy and cerebral leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "ADRVCL",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "CRV",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "HVR",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "autosomal dominant retinal vasculopathy with cerebral leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "cerebroretinal vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "cerebroretinal vasculopathy, hereditary",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "grand Kaine fulling syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "grand-Kaine-fulling syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "retinal vasculopathy with cerebral leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "vasculopathy, retinal, with cerebral leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:192315",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/192315",
            "name": "Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations",
            "description": "Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111567"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111567",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111567",
            "categories": []
        },
        {
            "id": "MONDO:0008641",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "categories": []
        },
        {
            "id": "MIM:192315",
            "database": "MIM",
            "url": "https://www.omim.org/entry/192315",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91XB0-1",
            "uniprot_ac": "Q91XB0",
            "uniprot_id": "TREX1_MOUSE",
            "refseq_ac": "NP_001012236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Three-prime repair exonuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' exonuclease TREX1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "DNase III",
                    "type": "synonym"
                },
                {
                    "name": "three prime exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "trophoblast expressed 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trex1",
                    "type": "recommended"
                },
                {
                    "name": "Trex1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XB0-1",
            "evidence": [
                {
                    "id": "0111567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NSU2-3",
            "uniprot_ac": "Q9NSU2",
            "uniprot_id": "TREX1_HUMAN",
            "refseq_ac": "NP_009179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Three-prime repair exonuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3' repair exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exonuclease TREX1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "DNase III",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonuclease III",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease III",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TREX1",
                    "type": "recommended"
                },
                {
                    "name": "AGS1",
                    "type": "synonym"
                },
                {
                    "name": "CRV",
                    "type": "synonym"
                },
                {
                    "name": "DRN3",
                    "type": "synonym"
                },
                {
                    "name": "HERNS",
                    "type": "synonym"
                },
                {
                    "name": "RVCLS",
                    "type": "synonym"
                },
                {
                    "name": "TREX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NSU2-3",
            "evidence": [
                {
                    "id": "192315",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/192315"
                },
                {
                    "id": "0111567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK16-1",
            "uniprot_ac": "Q5BK16",
            "uniprot_id": "Q5BK16_RAT",
            "refseq_ac": "NP_001020160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "exodeoxyribonuclease III",
                    "type": "recommended"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trex1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309596",
                    "type": "synonym"
                },
                {
                    "name": "Trex1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK16-1",
            "evidence": [
                {
                    "id": "0111567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQJ7-1",
            "uniprot_ac": "Q9VQJ7",
            "uniprot_id": "Q9VQJ7_DROME",
            "refseq_ac": "NP_001285571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exonuclease domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3165-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3165",
                    "type": "recommended"
                },
                {
                    "name": "CG3165",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3165",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3165",
                    "type": "synonym"
                },
                {
                    "name": "TREX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQJ7-1",
            "evidence": [
                {
                    "id": "0111567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111567"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111567"
}