{
    "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": "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is 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; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction."
        },
        {
            "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": "RVCL",
            "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": "CRV",
            "description": ""
        },
        {
            "id": "MONDO:0008641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008641",
            "name": "vasculopathy, retinal, with cerebral leukodystrophy; 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": "cerebroretinal vasculopathy, hereditary",
            "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": "grand-Kaine-fulling syndrome",
            "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": "ADRVCL",
            "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": "retinal vasculopathy with cerebral leukodystrophy",
            "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"
        }
    ]
}