{
    "disease_id": "DOID:0060652",
    "recommended_name": {
        "id": "DOID:0060652",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060652",
        "name": "familial erythrocytosis 1",
        "description": "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO."
    },
    "synonyms": [
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060652",
            "name": "ECYT1",
            "description": ""
        },
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060652",
            "name": "autosomal dominant benign erythrocytosis",
            "description": ""
        },
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060652",
            "name": "primary familial and congenital polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary familial polycythemia due to EPO receptor mutation",
            "description": "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels."
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, familial, 1; ECYT1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary congenital erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "polycythemia, primary familial and congenital",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "ECYT1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "congenital polycythemia due to erythropoietin receptor mutation",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "autosomal dominant benign erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, autosomal dominant benign",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary familial and congenital polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "EPOR familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "PFCP",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "congenital erythrocytosis due to erythropoietin receptor mutation",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial polycythemia caused by mutation in EPOR",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis autosomal dominant benign",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis",
            "description": ""
        },
        {
            "id": "MIM:133100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133100",
            "name": "Erythrocytosis, familial, 1",
            "description": "Erythrocytosis, familial, 1"
        }
    ]
}