{
    "disease_id": "DOID:0070195",
    "recommended_name": {
        "id": "DOID:0070195",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070195",
        "name": "X-linked chronic granulomatous disease",
        "description": "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0070195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070195",
            "name": "X-linked chronic cytochrome b-negative granulomatous disease",
            "description": ""
        },
        {
            "id": "DOID:0070195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070195",
            "name": "CDGX",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "CGD",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, atypical",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "cytochrome B-negative granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "cytochrome B-positive granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked, variant",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, autosomal dominant type",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "CGD",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "chronic granulomatous disease, atypical",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "cytochrome B-negative granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "cytochrome B-positive granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, X-linked, variant",
            "description": ""
        },
        {
            "id": "MONDO:0010600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "name": "granulomatous disease, chronic, autosomal dominant type",
            "description": ""
        },
        {
            "id": "MIM:306400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/306400",
            "name": "Granulomatous disease, chronic, X-linked",
            "description": "Granulomatous disease, chronic, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070195"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070195",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070195",
            "categories": []
        },
        {
            "id": "MONDO:0010600",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010600",
            "categories": []
        },
        {
            "id": "MIM:306400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/306400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61093-1",
            "uniprot_ac": "Q61093",
            "uniprot_id": "CY24B_MOUSE",
            "refseq_ac": "NP_031833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "NADPH oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.6.3.-",
                    "type": "synonym"
                },
                {
                    "name": "CGD91-phox",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b(558) subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-245 heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b558 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Heme-binding membrane glycoprotein gp91phox",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil cytochrome b 91 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "gp91-1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "heme-binding membrane glycoprotein gp91phox",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytochrome b 91 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cybb",
                    "type": "recommended"
                },
                {
                    "name": "CGD91-phox",
                    "type": "synonym"
                },
                {
                    "name": "Cgd",
                    "type": "synonym"
                },
                {
                    "name": "Cybb",
                    "type": "synonym"
                },
                {
                    "name": "Cyd",
                    "type": "synonym"
                },
                {
                    "name": "Nox2",
                    "type": "synonym"
                },
                {
                    "name": "gp91-1",
                    "type": "synonym"
                },
                {
                    "name": "gp91phox",
                    "type": "synonym"
                }
            ],
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                    "id": "0070195",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04839-1",
            "uniprot_ac": "P04839",
            "uniprot_id": "CY24B_HUMAN",
            "refseq_ac": "NP_000388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.6.3.-",
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                {
                    "name": "CGD91-phox",
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                },
                {
                    "name": "Cytochrome b(558) subunit beta",
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                },
                {
                    "name": "Cytochrome b-245 heavy chain",
                    "type": "synonym"
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                    "name": "Cytochrome b558 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Heme-binding membrane glycoprotein gp91phox",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil cytochrome b 91 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Superoxide-generating NADPH oxidase heavy chain subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b(558) subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 subunit beta",
                    "type": "synonym"
                },
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                    "name": "gp91-1",
                    "type": "synonym"
                },
                {
                    "name": "gp91-phox",
                    "type": "synonym"
                },
                {
                    "name": "heme-binding membrane glycoprotein gp91phox",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytochrome b 91 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                },
                {
                    "name": "superoxide-generating NADPH oxidase heavy chain subunit",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CYBB",
                    "type": "recommended"
                },
                {
                    "name": "AMCBX2",
                    "type": "synonym"
                },
                {
                    "name": "CGDX",
                    "type": "synonym"
                },
                {
                    "name": "CGD",
                    "type": "synonym"
                },
                {
                    "name": "CYBB",
                    "type": "synonym"
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                {
                    "name": "GP91-1",
                    "type": "synonym"
                },
                {
                    "name": "GP91-PHOX",
                    "type": "synonym"
                },
                {
                    "name": "GP91PHOX",
                    "type": "synonym"
                },
                {
                    "name": "IMD34",
                    "type": "synonym"
                },
                {
                    "name": "NOX2",
                    "type": "synonym"
                },
                {
                    "name": "p91-PHOX",
                    "type": "synonym"
                }
            ],
            "record_id": "P04839-1",
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                    "id": "306400",
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                    "url": "https://www.omim.org/entry/306400"
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                {
                    "id": "0070195",
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            ]
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            "uniprot_canonical_ac": "Q12209-1",
            "uniprot_ac": "Q12209",
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            "refseq_ac": "NP_013148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ferric reductase transmembrane component 8",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.7",
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                {
                    "name": "Ferric-chelate reductase 8",
                    "type": "synonym"
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                {
                    "name": "putative ferric-chelate reductase",
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                }
            ],
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                    "name": "FRE8",
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                },
                {
                    "name": "FRE8",
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                },
                {
                    "name": "L2114",
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            "record_id": "Q12209-1",
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                    "id": "0070195",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q08908-1",
            "uniprot_ac": "Q08908",
            "uniprot_id": "FRE5_YEAST",
            "refseq_ac": "NP_015029",
            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                }
            ],
            "protein_names": [
                {
                    "name": "Ferric reductase transmembrane component 5",
                    "type": "recommended"
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                {
                    "name": "1.16.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 5",
                    "type": "synonym"
                },
                {
                    "name": "putative ferric-chelate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRE5",
                    "type": "recommended"
                },
                {
                    "name": "FRE5",
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                },
                {
                    "name": "O6765",
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                    "id": "0070195",
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            ]
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            "uniprot_canonical_ac": "P53109-1",
            "uniprot_ac": "P53109",
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                    "name": "Saccharomyces cerevisiae S288C",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
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                    "name": "Probable metalloreductase AIM14",
                    "type": "recommended"
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                    "name": "1.16.1.-",
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                },
                {
                    "name": "Altered inheritance of mitochondria protein 14",
                    "type": "synonym"
                },
                {
                    "name": "putative metalloreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "AIM14",
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                },
                {
                    "name": "AIM14",
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                },
                {
                    "name": "G1837",
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                    "name": "YNO1",
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                    "id": "0070195",
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            ]
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            "uniprot_ac": "Q9ERL1",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "NADPH oxidase 2",
                    "type": "recommended"
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                    "name": "CGD91-phox",
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                {
                    "name": "Cytochrome b(558) subunit beta",
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                },
                {
                    "name": "Cytochrome b-245 heavy chain",
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                },
                {
                    "name": "Heme-binding membrane glycoprotein gp91phox",
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                {
                    "name": "NADPH oxidase 2",
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                {
                    "name": "Neutrophil cytochrome b 91 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 beta chain",
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                },
                {
                    "name": "cytochrome b-245, beta polypeptide",
                    "type": "synonym"
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                {
                    "name": "endothelial type gp91-phox",
                    "type": "synonym"
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                    "name": "gp91-1",
                    "type": "synonym"
                },
                {
                    "name": "gp91-phox",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cybb",
                    "type": "recommended"
                },
                {
                    "name": "Cybb",
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                {
                    "name": "Gp91-phox",
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                    "name": "Nox2",
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                    "id": "0070195",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070195"
}