{
    "disease_id": "DOID:0080290",
    "recommended_name": {
        "id": "DOID:0080290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080290",
        "name": "familial erythrocytosis 5",
        "description": "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080290",
            "name": "ECYT5",
            "description": ""
        },
        {
            "id": "MONDO:0033483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "name": "erythrocytosis, familial, 5",
            "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene."
        },
        {
            "id": "MONDO:0033483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "name": "EPO familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0033483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "name": "erythrocytosis, familial, 5",
            "description": ""
        },
        {
            "id": "MONDO:0033483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "name": "familial polycythemia caused by mutation in EPO",
            "description": ""
        },
        {
            "id": "MONDO:0033483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "name": "ECYT5",
            "description": ""
        },
        {
            "id": "MIM:617907",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617907",
            "name": "Erythrocytosis, familial, 5",
            "description": "Erythrocytosis, familial, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080290",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080290",
            "categories": []
        },
        {
            "id": "MONDO:0033483",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033483",
            "categories": []
        },
        {
            "id": "MIM:617907",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617907",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2XNF5-1",
            "uniprot_ac": "Q2XNF5",
            "uniprot_id": "EPO_DANRE",
            "refseq_ac": "NP_001033098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin",
                    "type": "recommended"
                },
                {
                    "name": "Erythropoietin-L2",
                    "type": "synonym"
                },
                {
                    "name": "erythropoietin isoform L2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "epo",
                    "type": "recommended"
                },
                {
                    "name": "epoa",
                    "type": "synonym"
                },
                {
                    "name": "epo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2XNF5-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QCG3-1",
            "uniprot_ac": "A0A8M9QCG3",
            "uniprot_id": "A0A8M9QCG3_DANRE",
            "refseq_ac": "NP_001373596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin",
                    "type": "recommended"
                },
                {
                    "name": "erythropoietin b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "epob",
                    "type": "recommended"
                },
                {
                    "name": "epob",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-259i8.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QCG3-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07321-1",
            "uniprot_ac": "P07321",
            "uniprot_id": "EPO_MOUSE",
            "refseq_ac": "NP_031968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin",
                    "type": "recommended"
                },
                {
                    "name": "erythropoietin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epo",
                    "type": "recommended"
                },
                {
                    "name": "Epo",
                    "type": "synonym"
                }
            ],
            "record_id": "P07321-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01588-1",
            "uniprot_ac": "P01588",
            "uniprot_id": "EPO_HUMAN",
            "refseq_ac": "NP_000790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin",
                    "type": "recommended"
                },
                {
                    "name": "epoetin",
                    "type": "synonym"
                },
                {
                    "name": "erythropoietin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPO",
                    "type": "recommended"
                },
                {
                    "name": "DBAL",
                    "type": "synonym"
                },
                {
                    "name": "ECYT5",
                    "type": "synonym"
                },
                {
                    "name": "EPO",
                    "type": "synonym"
                },
                {
                    "name": "EP",
                    "type": "synonym"
                },
                {
                    "name": "MVCD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P01588-1",
            "evidence": [
                {
                    "id": "617907",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617907"
                },
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29676-1",
            "uniprot_ac": "P29676",
            "uniprot_id": "EPO_RAT",
            "refseq_ac": "NP_058697",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin",
                    "type": "recommended"
                },
                {
                    "name": "erythropoietin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epo",
                    "type": "recommended"
                },
                {
                    "name": "Epo",
                    "type": "synonym"
                }
            ],
            "record_id": "P29676-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09330-1",
            "uniprot_ac": "P09330",
            "uniprot_id": "PRPS2_RAT",
            "refseq_ac": "NP_036766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PRS-II",
                    "type": "synonym"
                },
                {
                    "name": "Phophoribosylpyrophosphate synthetase, subunit II",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase II",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase II",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase II",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1l1",
                    "type": "recommended"
                },
                {
                    "name": "Prps1l3",
                    "type": "recommended"
                },
                {
                    "name": "Prps1",
                    "type": "recommended"
                },
                {
                    "name": "Prps2",
                    "type": "recommended"
                },
                {
                    "name": "Prps1l1",
                    "type": "synonym"
                },
                {
                    "name": "Prps1l3",
                    "type": "synonym"
                },
                {
                    "name": "Prps2",
                    "type": "synonym"
                }
            ],
            "record_id": "P09330-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78310-1",
            "uniprot_ac": "P78310",
            "uniprot_id": "CXAR_HUMAN",
            "refseq_ac": "NP_001193992",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coxsackievirus and adenovirus receptor",
                    "type": "recommended"
                },
                {
                    "name": "46 kD coxsackievirus and adenovirus receptor (CAR) protein",
                    "type": "synonym"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CVB3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CXADR Ig-like cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "Coxsackievirus B-adenovirus receptor",
                    "type": "synonym"
                },
                {
                    "name": "HCVADR",
                    "type": "synonym"
                },
                {
                    "name": "coxsackie virus and adenovirus receptor",
                    "type": "synonym"
                },
                {
                    "name": "coxsackievirus B-adenovirus receptor",
                    "type": "synonym"
                },
                {
                    "name": "coxsackievirus and adenovirus receptor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hCAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CXADR",
                    "type": "recommended"
                },
                {
                    "name": "CAR4/6",
                    "type": "synonym"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CXADR",
                    "type": "synonym"
                },
                {
                    "name": "HCAR",
                    "type": "synonym"
                }
            ],
            "record_id": "P78310-1",
            "evidence": [
                {
                    "id": "0080290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080290"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080290"
}