{
    "disease_id": "DOID:0080339",
    "recommended_name": {
        "id": "DOID:0080339",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": "EPAS1 familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0012729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "name": "erythrocytosis, familial, 4",
            "description": ""
        },
        {
            "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": "ECYT4",
            "description": ""
        },
        {
            "id": "MIM:611783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611783",
            "name": "Erythrocytosis, familial, 4",
            "description": "Erythrocytosis, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080339"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080339",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080339",
            "categories": []
        },
        {
            "id": "MONDO:0012729",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012729",
            "categories": []
        },
        {
            "id": "MIM:611783",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611783",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UR89-1",
            "uniprot_ac": "A0A8N7UR89",
            "uniprot_id": "A0A8N7UR89_DANRE",
            "refseq_ac": "XP_695262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial PAS domain-containing protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial PAS domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "epas1a",
                    "type": "recommended"
                },
                {
                    "name": "epas1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UR89-1",
            "evidence": [
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97481-1",
            "uniprot_ac": "P97481",
            "uniprot_id": "EPAS1_MOUSE",
            "refseq_ac": "NP_034267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial PAS domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "EPAS-1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1-alpha-like factor",
                    "type": "synonym"
                },
                {
                    "name": "HIF-2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF-related factor",
                    "type": "synonym"
                },
                {
                    "name": "HIF1 alpha-like factor",
                    "type": "synonym"
                },
                {
                    "name": "HIF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HLF (HIF1alpha-like factor)",
                    "type": "synonym"
                },
                {
                    "name": "HLF",
                    "type": "synonym"
                },
                {
                    "name": "HRF",
                    "type": "synonym"
                },
                {
                    "name": "Hif like protein",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor 2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "endothelial PAS domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia inducible transcription factor 2alpha",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia-inducible factor 2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mHLF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epas1",
                    "type": "recommended"
                },
                {
                    "name": "Epas1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-2alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF2A",
                    "type": "synonym"
                },
                {
                    "name": "HLF",
                    "type": "synonym"
                },
                {
                    "name": "HRF",
                    "type": "synonym"
                },
                {
                    "name": "Hif2a",
                    "type": "synonym"
                },
                {
                    "name": "MOP2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe73",
                    "type": "synonym"
                }
            ],
            "record_id": "P97481-1",
            "evidence": [
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99814-1",
            "uniprot_ac": "Q99814",
            "uniprot_id": "EPAS1_HUMAN",
            "refseq_ac": "NP_001421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial PAS domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Basic-helix-loop-helix-PAS protein MOP2",
                    "type": "synonym"
                },
                {
                    "name": "Class E basic helix-loop-helix protein 73",
                    "type": "synonym"
                },
                {
                    "name": "EPAS-1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1-alpha-like factor",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1alpha-like factor",
                    "type": "synonym"
                },
                {
                    "name": "HIF-2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HLF",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor 2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Member of PAS protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PAS domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe73",
                    "type": "synonym"
                },
                {
                    "name": "basic-helix-loop-helix-PAS protein MOP2",
                    "type": "synonym"
                },
                {
                    "name": "class E basic helix-loop-helix protein 73",
                    "type": "synonym"
                },
                {
                    "name": "endothelial PAS domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia-inducible factor 2 alpha",
                    "type": "synonym"
                },
                {
                    "name": "member of PAS protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPAS1",
                    "type": "recommended"
                },
                {
                    "name": "BHLHE73",
                    "type": "synonym"
                },
                {
                    "name": "ECYT4",
                    "type": "synonym"
                },
                {
                    "name": "EPAS1",
                    "type": "synonym"
                },
                {
                    "name": "HIF2A",
                    "type": "synonym"
                },
                {
                    "name": "HLF",
                    "type": "synonym"
                },
                {
                    "name": "MOP2",
                    "type": "synonym"
                },
                {
                    "name": "PASD2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe73",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99814-1",
            "evidence": [
                {
                    "id": "611783",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611783"
                },
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHS1-1",
            "uniprot_ac": "Q9JHS1",
            "uniprot_id": "EPAS1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial PAS domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "EPAS-1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor 2-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epas1",
                    "type": "recommended"
                },
                {
                    "name": "Hif2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHS1-1",
            "evidence": [
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35815-1",
            "uniprot_ac": "P35815",
            "uniprot_id": "PPM1B_RAT",
            "refseq_ac": "NP_149087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase 1B",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-beta",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C isoform beta",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1B isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppm1b",
                    "type": "recommended"
                },
                {
                    "name": "PP2C-beta",
                    "type": "synonym"
                },
                {
                    "name": "Pp2c2",
                    "type": "synonym"
                },
                {
                    "name": "Ppm1b",
                    "type": "synonym"
                },
                {
                    "name": "Pppm1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P35815-1",
            "evidence": [
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24167-1",
            "uniprot_ac": "Q24167",
            "uniprot_id": "SIMA_DROME",
            "refseq_ac": "NP_524584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein similar",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sima",
                    "type": "recommended"
                },
                {
                    "name": "7951",
                    "type": "synonym"
                },
                {
                    "name": "CG31031",
                    "type": "synonym"
                },
                {
                    "name": "CG45051",
                    "type": "synonym"
                },
                {
                    "name": "CG7951",
                    "type": "synonym"
                },
                {
                    "name": "DMU43090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45051",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45051",
                    "type": "synonym"
                },
                {
                    "name": "HIF alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1a",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-alpha/sima",
                    "type": "synonym"
                },
                {
                    "name": "HIF1A",
                    "type": "synonym"
                },
                {
                    "name": "HIF1alpha",
                    "type": "synonym"
                },
                {
                    "name": "HIF1",
                    "type": "synonym"
                },
                {
                    "name": "HIFalpha",
                    "type": "synonym"
                },
                {
                    "name": "Hif-1A",
                    "type": "synonym"
                },
                {
                    "name": "Hif1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Hifalpha",
                    "type": "synonym"
                },
                {
                    "name": "SIMA",
                    "type": "synonym"
                },
                {
                    "name": "Sima",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe56",
                    "type": "synonym"
                },
                {
                    "name": "dHIF-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "dHIF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "hif",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j11B7",
                    "type": "synonym"
                },
                {
                    "name": "sima",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24167-1",
            "evidence": [
                {
                    "id": "0080339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080339"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080339"
}