{
    "disease_id": "DOID:0080339",
    "recommended_name": {
        "id": "DOID:0080339",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080339",
        "name": "familial erythrocytosis 4",
        "description": "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080339",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080339",
            "name": "ECYT4",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "erythrocytosis, familial, 4",
            "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene."
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "erythrocytosis, familial, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "familial polycythemia caused by mutation in EPAS1",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "erythrocytosis, familial, 4; ECYT4",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "ECYT4",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "EPAS1 familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "erythrocytosis, familial, 4",
            "description": ""
        },
        {
            "id": "MIM:611783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611783",
            "name": "Erythrocytosis, familial, 4",
            "description": "Erythrocytosis, familial, 4"
        }
    ]
}