{
    "disease_id": "DOID:0060652",
    "recommended_name": {
        "id": "DOID:0060652",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060652",
        "name": "familial erythrocytosis 1",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060652",
            "name": "ECYT1",
            "description": ""
        },
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060652",
            "name": "autosomal dominant benign erythrocytosis",
            "description": ""
        },
        {
            "id": "DOID:0060652",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060652",
            "name": "primary familial and congenital polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary familial polycythemia due to EPO receptor mutation",
            "description": "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels."
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "EPOR familial polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "PFCP",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "congenital erythrocytosis due to erythropoietin receptor mutation",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "congenital polycythemia due to erythropoietin receptor mutation",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial erythrocytosis, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "familial polycythemia caused by mutation in EPOR",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary congenital erythrocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "primary familial and congenital polycythemia",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "ECYT1",
            "description": ""
        },
        {
            "id": "MONDO:0007572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "name": "erythrocytosis autosomal dominant benign",
            "description": ""
        },
        {
            "id": "MIM:133100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133100",
            "name": "Erythrocytosis, familial, 1",
            "description": "Erythrocytosis, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060652"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060652",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060652",
            "categories": []
        },
        {
            "id": "MONDO:0007572",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007572",
            "categories": []
        },
        {
            "id": "MIM:133100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/133100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QWX8-1",
            "uniprot_ac": "F1QWX8",
            "uniprot_id": "F1QWX8_DANRE",
            "refseq_ac": "XP_009293332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jak2a",
                    "type": "recommended"
                },
                {
                    "name": "jak2a",
                    "type": "synonym"
                },
                {
                    "name": "jak4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QWX8-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6YZ82-1",
            "uniprot_ac": "A0A8M6YZ82",
            "uniprot_id": "A0A8M6YZ82_DANRE",
            "refseq_ac": "NP_001429707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DKEYP-10C7.2",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adaptor protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh2b3",
                    "type": "recommended"
                },
                {
                    "name": "sh2b3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-1e8.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YZ82-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14753-1",
            "uniprot_ac": "P14753",
            "uniprot_id": "EPOR_MOUSE",
            "refseq_ac": "NP_034279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "EPO-R",
                    "type": "synonym"
                },
                {
                    "name": "erythropoietin receptor isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epor",
                    "type": "recommended"
                },
                {
                    "name": "Epor",
                    "type": "synonym"
                }
            ],
            "record_id": "P14753-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62120-1",
            "uniprot_ac": "Q62120",
            "uniprot_id": "JAK2_MOUSE",
            "refseq_ac": "NP_001041642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-2",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jak2",
                    "type": "recommended"
                },
                {
                    "name": "Fd17",
                    "type": "synonym"
                },
                {
                    "name": "Jak2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62120-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O09039-1",
            "uniprot_ac": "O09039",
            "uniprot_id": "SH2B3_MOUSE",
            "refseq_ac": "NP_001293055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "linker of T-cell receptor pathways",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein Lnk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b3",
                    "type": "recommended"
                },
                {
                    "name": "Lnk",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b3",
                    "type": "synonym"
                }
            ],
            "record_id": "O09039-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19235-1",
            "uniprot_ac": "P19235",
            "uniprot_id": "EPOR_HUMAN",
            "refseq_ac": "NP_000112",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erythropoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "EPO-R",
                    "type": "synonym"
                },
                {
                    "name": "erythropoietin receptor precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPOR",
                    "type": "recommended"
                },
                {
                    "name": "EPO-R",
                    "type": "synonym"
                },
                {
                    "name": "EPOR",
                    "type": "synonym"
                }
            ],
            "record_id": "P19235-1",
            "evidence": [
                {
                    "id": "133100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133100"
                },
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07303-1",
            "uniprot_ac": "Q07303",
            "uniprot_id": "EPOR_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": "Erythropoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "EPO-R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epor",
                    "type": "recommended"
                }
            ],
            "record_id": "Q07303-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62689-1",
            "uniprot_ac": "Q62689",
            "uniprot_id": "JAK2_RAT",
            "refseq_ac": "NP_113702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-2",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2 (a protein tyrosine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jak2",
                    "type": "recommended"
                },
                {
                    "name": "Jak2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62689-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50745-1",
            "uniprot_ac": "P50745",
            "uniprot_id": "SH2B3_RAT",
            "refseq_ac": "XP_063127675",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein Lnk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b3",
                    "type": "recommended"
                },
                {
                    "name": "Lnk",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b3",
                    "type": "synonym"
                }
            ],
            "record_id": "P50745-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24592-1",
            "uniprot_ac": "Q24592",
            "uniprot_id": "JAK_DROME",
            "refseq_ac": "NP_511119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase hopscotch",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1594-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hop",
                    "type": "synonym"
                },
                {
                    "name": "JAK kinase",
                    "type": "synonym"
                },
                {
                    "name": "Janus-family kinase",
                    "type": "synonym"
                },
                {
                    "name": "hop-PA",
                    "type": "synonym"
                },
                {
                    "name": "hopscotch",
                    "type": "synonym"
                },
                {
                    "name": "hopskotch",
                    "type": "synonym"
                },
                {
                    "name": "janus kinase",
                    "type": "synonym"
                },
                {
                    "name": "locus 18",
                    "type": "synonym"
                },
                {
                    "name": "tumorous",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hop",
                    "type": "recommended"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "CG1594",
                    "type": "synonym"
                },
                {
                    "name": "Dm JAK",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-160",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1594",
                    "type": "synonym"
                },
                {
                    "name": "HD-160",
                    "type": "synonym"
                },
                {
                    "name": "HOP",
                    "type": "synonym"
                },
                {
                    "name": "Hop1",
                    "type": "synonym"
                },
                {
                    "name": "Hop2",
                    "type": "synonym"
                },
                {
                    "name": "Hop",
                    "type": "synonym"
                },
                {
                    "name": "Hpo",
                    "type": "synonym"
                },
                {
                    "name": "JAK",
                    "type": "synonym"
                },
                {
                    "name": "Jak",
                    "type": "synonym"
                },
                {
                    "name": "L4",
                    "type": "synonym"
                },
                {
                    "name": "Tum-1",
                    "type": "synonym"
                },
                {
                    "name": "Tum",
                    "type": "synonym"
                },
                {
                    "name": "d-jak",
                    "type": "synonym"
                },
                {
                    "name": "hop/JAK",
                    "type": "synonym"
                },
                {
                    "name": "hop",
                    "type": "synonym"
                },
                {
                    "name": "jak",
                    "type": "synonym"
                },
                {
                    "name": "l(1)10Be",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G18",
                    "type": "synonym"
                },
                {
                    "name": "l(1)L4",
                    "type": "synonym"
                },
                {
                    "name": "l(1)hop",
                    "type": "synonym"
                },
                {
                    "name": "msvl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24592-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHY5-1",
            "uniprot_ac": "A0A0B4LHY5",
            "uniprot_id": "A0A0B4LHY5_DROME",
            "refseq_ac": "NP_001287536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17367-PD",
                    "type": "synonym"
                },
                {
                    "name": "Lnk, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Lnk-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lnk",
                    "type": "recommended"
                },
                {
                    "name": "CG 17367",
                    "type": "synonym"
                },
                {
                    "name": "CG17367",
                    "type": "synonym"
                },
                {
                    "name": "CG5908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17367",
                    "type": "synonym"
                },
                {
                    "name": "LNK",
                    "type": "synonym"
                },
                {
                    "name": "Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B",
                    "type": "synonym"
                },
                {
                    "name": "dSH2B",
                    "type": "synonym"
                },
                {
                    "name": "lnk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHY5-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51530-1",
            "uniprot_ac": "P51530",
            "uniprot_id": "DNA2_HUMAN",
            "refseq_ac": "NP_001073918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA 5'-3' helicase DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase-like homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication helicase 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA2 DNA replication helicase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "DNA2-like helicase",
                    "type": "synonym"
                },
                {
                    "name": "hDNA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA2L",
                    "type": "synonym"
                },
                {
                    "name": "DNA2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0083",
                    "type": "synonym"
                },
                {
                    "name": "RTS4",
                    "type": "synonym"
                },
                {
                    "name": "hDNA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51530-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQQ2-1",
            "uniprot_ac": "Q9UQQ2",
            "uniprot_id": "SH2B3_HUMAN",
            "refseq_ac": "NP_001278353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein Lnk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH2B3",
                    "type": "recommended"
                },
                {
                    "name": "IDDM20",
                    "type": "synonym"
                },
                {
                    "name": "LNK",
                    "type": "synonym"
                },
                {
                    "name": "SH2B3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQQ2-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60674-1",
            "uniprot_ac": "O60674",
            "uniprot_id": "JAK2_HUMAN",
            "refseq_ac": "NP_001309123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-2",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2 (a protein tyrosine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JAK2",
                    "type": "recommended"
                },
                {
                    "name": "JAK2",
                    "type": "synonym"
                },
                {
                    "name": "JTK10",
                    "type": "synonym"
                }
            ],
            "record_id": "O60674-1",
            "evidence": [
                {
                    "id": "0060652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060652"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060652"
}