{
    "disease_id": "DOID:0080338",
    "recommended_name": {
        "id": "DOID:0080338",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080338",
        "name": "familial erythrocytosis 3",
        "description": "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0080338",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080338",
            "name": "ECYT3",
            "description": ""
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "erythrocytosis, familial, 3",
            "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene."
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "EGLN1 familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "erythrocytosis, familial, 3",
            "description": ""
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "erythrocytosis, familial, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "familial polycythemia caused by mutation in EGLN1",
            "description": ""
        },
        {
            "id": "MONDO:0012353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "name": "ECYT3",
            "description": ""
        },
        {
            "id": "MIM:609820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609820",
            "name": "Erythrocytosis, familial, 3",
            "description": "Erythrocytosis, familial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080338"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080338",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080338",
            "categories": []
        },
        {
            "id": "MONDO:0012353",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012353",
            "categories": []
        },
        {
            "id": "MIM:609820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609820",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F518-1",
            "uniprot_ac": "E7F518",
            "uniprot_id": "E7F518_DANRE",
            "refseq_ac": "XP_002664281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "hypoxia-inducible factor-proline dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.29",
                    "type": "synonym"
                },
                {
                    "name": "egl nine homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "egln1a",
                    "type": "recommended"
                },
                {
                    "name": "egln1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F518-1",
            "evidence": [
                {
                    "id": "0080338",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080338"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6P6J7-1",
            "uniprot_ac": "F6P6J7",
            "uniprot_id": "F6P6J7_DANRE",
            "refseq_ac": "NP_001002595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "hypoxia-inducible factor-proline dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.29",
                    "type": "synonym"
                },
                {
                    "name": "Hif-p4h-2",
                    "type": "synonym"
                },
                {
                    "name": "egl nine homolog 1b",
                    "type": "synonym"
                },
                {
                    "name": "egl nine homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "egln1b",
                    "type": "recommended"
                },
                {
                    "name": "egln1b",
                    "type": "synonym"
                },
                {
                    "name": "egln1",
                    "type": "synonym"
                },
                {
                    "name": "fk45e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk45e02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92314",
                    "type": "synonym"
                }
            ],
            "record_id": "F6P6J7-1",
            "evidence": [
                {
                    "id": "0080338",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080338"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YE3-1",
            "uniprot_ac": "Q91YE3",
            "uniprot_id": "EGLN1_MOUSE",
            "refseq_ac": "NP_444437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Egl nine homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.29",
                    "type": "synonym"
                },
                {
                    "name": "HIF-PH2",
                    "type": "synonym"
                },
                {
                    "name": "HIF-prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "HPH-2",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "PHD2",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl hydroxylase domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SM-20",
                    "type": "synonym"
                },
                {
                    "name": "egl nine homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia-inducible factor prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "prolyl hydroxylase domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egln1",
                    "type": "recommended"
                },
                {
                    "name": "C1orf12",
                    "type": "synonym"
                },
                {
                    "name": "Egln1",
                    "type": "synonym"
                },
                {
                    "name": "HIF-PH2",
                    "type": "synonym"
                },
                {
                    "name": "HPH-2",
                    "type": "synonym"
                },
                {
                    "name": "Hif-p4h-2",
                    "type": "synonym"
                },
                {
                    "name": "ORF13",
                    "type": "synonym"
                },
                {
                    "name": "Phd2",
                    "type": "synonym"
                },
                {
                    "name": "SM-20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YE3-1",
            "evidence": [
                {
                    "id": "0080338",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080338"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZT9-1",
            "uniprot_ac": "Q9GZT9",
            "uniprot_id": "EGLN1_HUMAN",
            "refseq_ac": "NP_071334",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Egl nine homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.29",
                    "type": "synonym"
                },
                {
                    "name": "HIF-PH2",
                    "type": "synonym"
                },
                {
                    "name": "HIF-prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "HPH-2",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "PHD2",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl hydroxylase domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SM-20",
                    "type": "synonym"
                },
                {
                    "name": "egl nine homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "egl nine-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia-inducible factor prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "prolyl hydroxylase domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EGLN1",
                    "type": "recommended"
                },
                {
                    "name": "C1orf12",
                    "type": "synonym"
                },
                {
                    "name": "ECYT3",
                    "type": "synonym"
                },
                {
                    "name": "EGLN1",
                    "type": "synonym"
                },
                {
                    "name": "HALAH",
                    "type": "synonym"
                },
                {
                    "name": "HIF-PH2",
                    "type": "synonym"
                },
                {
                    "name": "HIFPH2",
                    "type": "synonym"
                },
                {
                    "name": "HPH-2",
                    "type": "synonym"
                },
                {
                    "name": "HPH2",
                    "type": "synonym"
                },
                {
                    "name": "PHD2",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-118",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-137",
                    "type": "synonym"
                },
                {
                    "name": "SM20",
                    "type": "synonym"
                },
                {
                    "name": "ZMYND6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZT9-1",
            "evidence": [
                {
                    "id": "609820",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609820"
                },
                {
                    "id": "0080338",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080338"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59722-1",
            "uniprot_ac": "P59722",
            "uniprot_id": "EGLN1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Egl nine homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.29",
                    "type": "synonym"
                },
                {
                    "name": "HIF-PH2",
                    "type": "synonym"
                },
                {
                    "name": "HIF-prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "HPH-2",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor prolyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "PHD2",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl hydroxylase domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egln1",
                    "type": "recommended"
                }
            ],
            "record_id": "P59722-1",
            "evidence": [
                {
                    "id": "0080338",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080338"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080338"
}