{
    "disease_id": "DOID:0112129",
    "recommended_name": {
        "id": "DOID:0112129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112129",
        "name": "severe congenital neutropenia 7",
        "description": "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112129",
            "name": "SCN7",
            "description": ""
        },
        {
            "id": "DOID:0112129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112129",
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "neutropenia, Severe congenital, 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "SCN7",
            "description": ""
        },
        {
            "id": "MIM:617014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617014",
            "name": "Neutropenia, severe congenital 7, autosomal recessive",
            "description": "Neutropenia, severe congenital 7, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112129",
            "categories": []
        },
        {
            "id": "MONDO:0014865",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "categories": []
        },
        {
            "id": "MIM:617014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617014",
            "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": "0112129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112129"
                }
            ]
        },
        {
            "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": "617014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617014"
                },
                {
                    "id": "0112129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112129"
                }
            ]
        },
        {
            "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": "0112129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112129"
}