{
    "disease_id": "DOID:0060652", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "primary familial polycythemia due to EPO receptor mutation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis, familial, 1; ECYT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "primary congenital erythrocytosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "polycythemia, primary familial and congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis, familial, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "familial erythrocytosis, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis familial, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "ECYT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "congenital polycythemia due to erythropoietin receptor mutation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "autosomal dominant benign erythrocytosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis, autosomal dominant benign"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "primary familial polycythemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "primary familial and congenital polycythemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "familial erythrocytosis type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "EPOR familial polycythemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "PFCP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "congenital erythrocytosis due to erythropoietin receptor mutation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "familial polycythemia caused by mutation in EPOR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis autosomal dominant benign"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "erythrocytosis, familial, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007572", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007572", 
            "name": "familial erythrocytosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060652", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060652", 
            "name": "ECYT1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060652", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060652", 
            "name": "autosomal dominant benign erythrocytosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060652", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060652", 
            "name": "primary familial and congenital polycythemia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060652", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060652", 
        "name": "familial erythrocytosis 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060652#disease-associations", 
            "id": "0060652", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
