{
    "disease_id": "DOID:0070192",
    "recommended_name": {
        "id": "DOID:0070192",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070192",
        "name": "autosomal recessive chronic granulomatous disease 1",
        "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "CDG1",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "deficiency of NCF1",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "deficiency of SOC2",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "deficiency of neutrophil cytosol factor 1",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "deficiency of p47-PHOX",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "deficiency of soluble oxidase component II",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "chronic granulomatous disease due to deficiency of NCF-1",
            "description": ""
        },
        {
            "id": "DOID:0070192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "name": "autosomal recessive chronic granulomatous disease cytochrome b-positive type I",
            "description": ""
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",
            "description": "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene."
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "NCF1 chronic granulomatous disease",
            "description": ""
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "chronic granulomatous disease 1, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "chronic granulomatous disease caused by mutation in NCF1",
            "description": ""
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "name": "CDG1",
            "description": ""
        },
        {
            "id": "MIM:233700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233700",
            "name": "Granulomatous disease, chronic, autosomal recessive, 1",
            "description": "Granulomatous disease, chronic, autosomal recessive, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070192"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070192",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070192",
            "categories": []
        },
        {
            "id": "MONDO:0009309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009309",
            "categories": []
        },
        {
            "id": "MIM:233700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q09014-1",
            "uniprot_ac": "Q09014",
            "uniprot_id": "NCF1_MOUSE",
            "refseq_ac": "NP_001272966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosol factor 1",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa neutrophil oxidase factor",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase subunit (47 kD)",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase subunit (47kDa)",
                    "type": "synonym"
                },
                {
                    "name": "NCF-1",
                    "type": "synonym"
                },
                {
                    "name": "NCF-47K",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 1",
                    "type": "synonym"
                },
                {
                    "name": "p47-phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf1",
                    "type": "recommended"
                },
                {
                    "name": "NCF-47K",
                    "type": "synonym"
                },
                {
                    "name": "NOXO2",
                    "type": "synonym"
                },
                {
                    "name": "Ncf-1",
                    "type": "synonym"
                },
                {
                    "name": "Ncf1",
                    "type": "synonym"
                },
                {
                    "name": "p47-phox",
                    "type": "synonym"
                },
                {
                    "name": "p47<phox>",
                    "type": "synonym"
                },
                {
                    "name": "p47phox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09014-1",
            "evidence": [
                {
                    "id": "0070192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14598-1",
            "uniprot_ac": "P14598",
            "uniprot_id": "NCF1_HUMAN",
            "refseq_ac": "NP_000256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosol factor 1",
                    "type": "recommended"
                },
                {
                    "name": "47 kDa autosomal chronic granulomatous disease protein",
                    "type": "synonym"
                },
                {
                    "name": "47 kDa neutrophil oxidase factor",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase organizer 2",
                    "type": "synonym"
                },
                {
                    "name": "NCF-1",
                    "type": "synonym"
                },
                {
                    "name": "NCF-47K",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Nox organizer 2",
                    "type": "synonym"
                },
                {
                    "name": "Nox-organizing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and PX domain-containing protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)",
                    "type": "synonym"
                },
                {
                    "name": "nox organizer 2",
                    "type": "synonym"
                },
                {
                    "name": "nox-organizing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p47-phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCF1",
                    "type": "recommended"
                },
                {
                    "name": "CGD1",
                    "type": "synonym"
                },
                {
                    "name": "NCF-1",
                    "type": "synonym"
                },
                {
                    "name": "NCF-47K",
                    "type": "synonym"
                },
                {
                    "name": "NCF1A",
                    "type": "synonym"
                },
                {
                    "name": "NCF1",
                    "type": "synonym"
                },
                {
                    "name": "NOXO2",
                    "type": "synonym"
                },
                {
                    "name": "SH3PXD1A",
                    "type": "synonym"
                },
                {
                    "name": "p47-phox",
                    "type": "synonym"
                },
                {
                    "name": "p47phox",
                    "type": "synonym"
                }
            ],
            "record_id": "P14598-1",
            "evidence": [
                {
                    "id": "233700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233700"
                },
                {
                    "id": "0070192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M707-1",
            "uniprot_ac": "F1M707",
            "uniprot_id": "NCF1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosolic factor 1",
                    "type": "recommended"
                },
                {
                    "name": "NCF-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf1",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M707-1",
            "evidence": [
                {
                    "id": "0070192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070192"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070192"
}