{
    "disease_id": "DOID:0090120",
    "recommended_name": {
        "id": "DOID:0090120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090120",
        "name": "hereditary neutrophilia",
        "description": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0008092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008092",
            "name": "hereditary neutrophilia",
            "description": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34."
        },
        {
            "id": "MIM:162830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162830",
            "name": "Hereditary neutrophilia",
            "description": "Hereditary neutrophilia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090120"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090120",
            "categories": []
        },
        {
            "id": "MONDO:0008092",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008092",
            "categories": []
        },
        {
            "id": "MIM:162830",
            "database": "MIM",
            "url": "https://www.omim.org/entry/162830",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P40223-1",
            "uniprot_ac": "P40223",
            "uniprot_id": "CSF3R_MOUSE",
            "refseq_ac": "NP_031808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Granulocyte colony-stimulating factor receptor",
                    "type": "recommended"
                },
                {
                    "name": "G-CSF receptor",
                    "type": "synonym"
                },
                {
                    "name": "G-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "colony stimulating factor 3 receptor (granulocyte)",
                    "type": "synonym"
                },
                {
                    "name": "granulocyte colony-stimulating factor receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "granulocyte colony-stimulating factor receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Csf3r",
                    "type": "recommended"
                },
                {
                    "name": "Cd114",
                    "type": "synonym"
                },
                {
                    "name": "Csf3r",
                    "type": "synonym"
                },
                {
                    "name": "Csfgr",
                    "type": "synonym"
                },
                {
                    "name": "G-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "G-CSFR",
                    "type": "synonym"
                }
            ],
            "record_id": "P40223-1",
            "evidence": [
                {
                    "id": "0090120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99062-1",
            "uniprot_ac": "Q99062",
            "uniprot_id": "CSF3R_HUMAN",
            "refseq_ac": "NP_000751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Granulocyte colony-stimulating factor receptor",
                    "type": "recommended"
                },
                {
                    "name": "CD114 antigen",
                    "type": "synonym"
                },
                {
                    "name": "G-CSF receptor",
                    "type": "synonym"
                },
                {
                    "name": "G-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "colony stimulating factor 3 receptor (granulocyte)",
                    "type": "synonym"
                },
                {
                    "name": "granulocyte colony-stimulating factor receptor isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSF3R",
                    "type": "recommended"
                },
                {
                    "name": "CD114",
                    "type": "synonym"
                },
                {
                    "name": "CSF3R",
                    "type": "synonym"
                },
                {
                    "name": "GCSFR",
                    "type": "synonym"
                },
                {
                    "name": "SCN7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99062-1",
            "evidence": [
                {
                    "id": "162830",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/162830"
                },
                {
                    "id": "0090120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3M3-1",
            "uniprot_ac": "A0A8I6B3M3",
            "uniprot_id": "A0A8I6B3M3_RAT",
            "refseq_ac": "XP_017448778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Colony stimulating factor 3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "granulocyte colony-stimulating factor receptor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Csf3r",
                    "type": "recommended"
                },
                {
                    "name": "Csf3r",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6B3M3-1",
            "evidence": [
                {
                    "id": "0090120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090120"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090120"
}