{
    "disease_id": "DOID:0060474",
    "recommended_name": {
        "id": "DOID:0060474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060474",
        "name": "familial erythrocytosis 2",
        "description": "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash erythromatosis",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash polycythemia",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "Chuvash type polycythemia",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "ECYT2",
            "description": ""
        },
        {
            "id": "DOID:0060474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060474",
            "name": "autosomal recessive benign erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Chuvash polycythemia",
            "description": "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death."
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Chuvash polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "VHL familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "Von Hippel-Lindau-dependent polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "erythrocytosis, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "familial polycythemia caused by mutation in VHL",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "ECYT2",
            "description": ""
        },
        {
            "id": "MONDO:0009892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009892",
            "name": "erythrocytosis, familial, 2",
            "description": ""
        },
        {
            "id": "MIM:263400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263400",
            "name": "Erythrocytosis, familial, 2",
            "description": "Erythrocytosis, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060474"
    ],
    "unlinked_id_list": []
}