{
    "disease_id": "DOID:0111567",
    "recommended_name": {
        "id": "DOID:0111567",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111567",
            "name": "retinal vasculopathy and cerebral leukoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111567",
            "name": "CRV",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "http://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": "http://disease-ontology.org/term/DOID:0111567",
            "name": "RVCL",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111567",
            "name": "RVCL-S",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111567",
            "name": "hereditary cerebroretinal vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111567",
            "resource": "Disease Ontology",
            "url": "http://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"
        }
    ]
}