{
    "disease_id": "DOID:0111630",
    "recommended_name": {
        "id": "DOID:0111630",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111630",
        "name": "familial erythrocytosis 8",
        "description": "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33."
    },
    "synonyms": [
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "diphosphoglycerate mutase deficiency of erythrocyte",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "BPGM deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "DPGM deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "ECYT8",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "bisphosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "bisphosphoglyceromutase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111630",
            "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency",
            "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly."
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "bisphosphoglyceromutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "diphosphoglycerate phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "bisphosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "diphosphoglycerate mutase deficiency of erythrocyte",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "DPGM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "BPGM deficiency",
            "description": ""
        },
        {
            "id": "MIM:222800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222800",
            "name": "Erythrocytosis, familial, 8",
            "description": "Erythrocytosis, familial, 8"
        }
    ]
}