{
    "disease_id": "DOID:0112136",
    "recommended_name": {
        "id": "DOID:0112136",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112136",
        "name": "severe congenital neutropenia 4",
        "description": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "Dursun syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "SCN4",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "SCN4",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "neutropenia, severe congenital 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "severe congenital neutropenia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "neutropenia, severe congenital, 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612541",
            "name": "Neutropenia, severe congenital 4, autosomal recessive",
            "description": "Neutropenia, severe congenital 4, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112136"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112136",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "categories": []
        },
        {
            "id": "MONDO:0012930",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "categories": []
        },
        {
            "id": "MIM:612541",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612541",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1A5Z0-1",
            "uniprot_ac": "A1A5Z0",
            "uniprot_id": "G6PC3_DANRE",
            "refseq_ac": "NP_001073535",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.9",
                    "type": "synonym"
                },
                {
                    "name": "G-6-Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose 6 phosphatase, catalytic, 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "g6pc3",
                    "type": "recommended"
                },
                {
                    "name": "g6pc3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158425",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A5Z0-1",
            "evidence": [
                {
                    "id": "0112136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NSQ9-1",
            "uniprot_ac": "Q6NSQ9",
            "uniprot_id": "G6PC3_MOUSE",
            "refseq_ac": "NP_787949",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.9",
                    "type": "synonym"
                },
                {
                    "name": "G-6-Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "Glc-6-Pase-beta",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitous glucose-6-phosphatase catalytic subunit-related protein",
                    "type": "synonym"
                },
                {
                    "name": "glc-6-Pase-beta",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase catalytic subunit-related",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase-beta",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitous glucose-6-phosphatase catalytic subunit-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "G6pc3",
                    "type": "recommended"
                },
                {
                    "name": "0710001K01Rik",
                    "type": "synonym"
                },
                {
                    "name": "G6pc3",
                    "type": "synonym"
                },
                {
                    "name": "UGRP",
                    "type": "synonym"
                },
                {
                    "name": "Ugrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NSQ9-1",
            "evidence": [
                {
                    "id": "0112136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUM1-1",
            "uniprot_ac": "Q9BUM1",
            "uniprot_id": "G6PC3_HUMAN",
            "refseq_ac": "NP_612396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.9",
                    "type": "synonym"
                },
                {
                    "name": "G-6-Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase-beta",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphatase beta",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitous glucose-6-phosphatase catalytic subunit-related protein",
                    "type": "synonym"
                },
                {
                    "name": "glucose 6 phosphatase, catalytic, 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitous glucose-6-phosphatase catalytic subunit-related protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously expressed G6Pase catalytic subunit-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "G6PC3",
                    "type": "recommended"
                },
                {
                    "name": "G6PC3",
                    "type": "synonym"
                },
                {
                    "name": "SCN4",
                    "type": "synonym"
                },
                {
                    "name": "UGRP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUM1-1",
            "evidence": [
                {
                    "id": "0012930",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012930"
                },
                {
                    "id": "612541",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612541"
                },
                {
                    "id": "G6PC3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/G6PC3/#!details"
                },
                {
                    "id": "0112136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AZ83-1",
            "uniprot_ac": "Q6AZ83",
            "uniprot_id": "G6PC3_RAT",
            "refseq_ac": "NP_788266",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.9",
                    "type": "synonym"
                },
                {
                    "name": "G-6-Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose 6 phosphatase, catalytic, 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase catalytic subunit-related",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "G6pc3",
                    "type": "recommended"
                },
                {
                    "name": "G6pc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AZ83-1",
            "evidence": [
                {
                    "id": "0112136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQH1-1",
            "uniprot_ac": "Q9VQH1",
            "uniprot_id": "Q9VQH1_DROME",
            "refseq_ac": "NP_001097063",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.3.9",
                    "type": "synonym"
                },
                {
                    "name": "CG15400-PB",
                    "type": "synonym"
                },
                {
                    "name": "G6P-PB",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-Phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "G6p",
                    "type": "recommended"
                },
                {
                    "name": "CG15400",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15400",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15400",
                    "type": "synonym"
                },
                {
                    "name": "G6PC",
                    "type": "synonym"
                },
                {
                    "name": "G6Pase",
                    "type": "synonym"
                },
                {
                    "name": "G6P",
                    "type": "synonym"
                },
                {
                    "name": "G6pase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQH1-1",
            "evidence": [
                {
                    "id": "0112136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112136"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112136"
}