{
    "disease_id": "DOID:0111344",
    "recommended_name": {
        "id": "DOID:0111344",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111344",
        "name": "myeloproliferative disorder with eosinophilia",
        "description": "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0111344",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111344",
            "name": "chronic myeloproliferative disorder with eosinophilia",
            "description": ""
        },
        {
            "id": "MONDO:0007546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007546",
            "name": "myeloproliferative disorder, chronic, with eosinophilia",
            "description": ""
        },
        {
            "id": "MONDO:0007546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007546",
            "name": "myeloproliferative disorder, chronic, with eosinophilia",
            "description": ""
        },
        {
            "id": "MONDO:0007546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007546",
            "name": "MPE",
            "description": ""
        },
        {
            "id": "MIM:131440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131440",
            "name": "Myeloproliferative disorder chronic with eosinophilia",
            "description": "Myeloproliferative disorder chronic with eosinophilia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111344"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111344",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111344",
            "categories": []
        },
        {
            "id": "MONDO:0007546",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007546",
            "categories": []
        },
        {
            "id": "MIM:131440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41212-1",
            "uniprot_ac": "P41212",
            "uniprot_id": "ETV6_HUMAN",
            "refseq_ac": "NP_001978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor ETV6",
                    "type": "recommended"
                },
                {
                    "name": "ETS translocation variant 6",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related protein Tel1",
                    "type": "synonym"
                },
                {
                    "name": "ETV6-RUNX1 fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "TEL1 oncogene",
                    "type": "synonym"
                },
                {
                    "name": "Tel",
                    "type": "synonym"
                },
                {
                    "name": "ets variant gene 6 (TEL oncogene)",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ETV6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ETV6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETV6",
                    "type": "recommended"
                },
                {
                    "name": "ETV6",
                    "type": "synonym"
                },
                {
                    "name": "TEL/ABL",
                    "type": "synonym"
                },
                {
                    "name": "TEL1",
                    "type": "synonym"
                },
                {
                    "name": "TEL",
                    "type": "synonym"
                },
                {
                    "name": "THC5",
                    "type": "synonym"
                }
            ],
            "record_id": "P41212-1",
            "evidence": [
                {
                    "id": "131440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09619-1",
            "uniprot_ac": "P09619",
            "uniprot_id": "PGFRB_HUMAN",
            "refseq_ac": "NP_002600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-derived growth factor receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Activated tyrosine kinase PDGFRB",
                    "type": "synonym"
                },
                {
                    "name": "Beta platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "PDGF-R-beta",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDGFRB",
                    "type": "recommended"
                },
                {
                    "name": "CD140B",
                    "type": "synonym"
                },
                {
                    "name": "IBGC4",
                    "type": "synonym"
                },
                {
                    "name": "IMF1",
                    "type": "synonym"
                },
                {
                    "name": "JTK12",
                    "type": "synonym"
                },
                {
                    "name": "KOGS",
                    "type": "synonym"
                },
                {
                    "name": "OPDKD",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR1",
                    "type": "synonym"
                },
                {
                    "name": "PDGFRB",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR",
                    "type": "synonym"
                },
                {
                    "name": "PENTT",
                    "type": "synonym"
                }
            ],
            "record_id": "P09619-1",
            "evidence": [
                {
                    "id": "131440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131440"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111344"
}