{
    "disease_id": "DOID:0070194",
    "recommended_name": {
        "id": "DOID:0070194",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070194",
        "name": "autosomal recessive chronic granulomatous disease 3",
        "description": "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070194",
            "name": "autosomal recessive cytochrome b-positive CGD type III",
            "description": ""
        },
        {
            "id": "DOID:0070194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070194",
            "name": "CDG3",
            "description": ""
        },
        {
            "id": "DOID:0070194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070194",
            "name": "chronic granulomatous disease due to NCF4 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070194",
            "name": "autosomal recessive chronic granulomatous disease cytochrome b-positive type III",
            "description": ""
        },
        {
            "id": "MONDO:0013507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013507",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013507",
            "name": "chronic granulomatous disease 3, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013507",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013507",
            "name": "CDG3",
            "description": ""
        },
        {
            "id": "MIM:613960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613960",
            "name": "Granulomatous disease, chronic, autosomal recessive, 3",
            "description": "Granulomatous disease, chronic, autosomal recessive, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070194"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070194",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070194",
            "categories": []
        },
        {
            "id": "MONDO:0013507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013507",
            "categories": []
        },
        {
            "id": "MIM:613960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613960",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LUW2-1",
            "uniprot_ac": "Q1LUW2",
            "uniprot_id": "Q1LUW2_DANRE",
            "refseq_ac": "NP_991274",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosol factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4",
                    "type": "synonym"
                },
                {
                    "name": "p40-phox",
                    "type": "synonym"
                },
                {
                    "name": "p40phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ncf4",
                    "type": "recommended"
                },
                {
                    "name": "ncf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LUW2-1",
            "evidence": [
                {
                    "id": "0070194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97369-1",
            "uniprot_ac": "P97369",
            "uniprot_id": "NCF4_MOUSE",
            "refseq_ac": "NP_032703",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "NCF-4",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4",
                    "type": "synonym"
                },
                {
                    "name": "p40-phox",
                    "type": "synonym"
                },
                {
                    "name": "p40phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf4",
                    "type": "recommended"
                },
                {
                    "name": "Ncf4",
                    "type": "synonym"
                },
                {
                    "name": "p40phox",
                    "type": "synonym"
                }
            ],
            "record_id": "P97369-1",
            "evidence": [
                {
                    "id": "0070194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15080-1",
            "uniprot_ac": "Q15080",
            "uniprot_id": "NCF4_HUMAN",
            "refseq_ac": "NP_000622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosol factor 4",
                    "type": "recommended"
                },
                {
                    "name": "NCF-4",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and PX domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosolic factor 4, 40kDa",
                    "type": "synonym"
                },
                {
                    "name": "p40-phox",
                    "type": "synonym"
                },
                {
                    "name": "p40phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCF4",
                    "type": "recommended"
                },
                {
                    "name": "CGD3",
                    "type": "synonym"
                },
                {
                    "name": "NCF4",
                    "type": "synonym"
                },
                {
                    "name": "NCF",
                    "type": "synonym"
                },
                {
                    "name": "P40PHOX",
                    "type": "synonym"
                },
                {
                    "name": "SH3PXD4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15080-1",
            "evidence": [
                {
                    "id": "613960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613960"
                },
                {
                    "id": "0070194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29366-1",
            "uniprot_ac": "P29366",
            "uniprot_id": "BEM1_YEAST",
            "refseq_ac": "NP_009759",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bud emergence protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Suppressor of RHO3 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate-binding protein BEM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEM1",
                    "type": "recommended"
                },
                {
                    "name": "BEM1",
                    "type": "synonym"
                },
                {
                    "name": "SRO1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1412",
                    "type": "synonym"
                }
            ],
            "record_id": "P29366-1",
            "evidence": [
                {
                    "id": "0070194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LVM8-1",
            "uniprot_ac": "A0ABK0LVM8",
            "uniprot_id": "A0ABK0LVM8_RAT",
            "refseq_ac": "XP_006242001",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil cytosol factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 4",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "p40-phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf4",
                    "type": "recommended"
                },
                {
                    "name": "Ncf4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LVM8-1",
            "evidence": [
                {
                    "id": "0070194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070194"
}