{
    "disease_id": "DOID:0070193",
    "recommended_name": {
        "id": "DOID:0070193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070193",
        "name": "autosomal recessive chronic granulomatous disease 4",
        "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "name": "CYBA deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "name": "CGD due to deficiency of the alpha subunit of cytochrome b",
            "description": ""
        },
        {
            "id": "DOID:0070193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "name": "autosomal recessive cytochrome b-negative CGD",
            "description": ""
        },
        {
            "id": "DOID:0070193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "name": "chronic granulomatous disease due to deficiency of CYBA",
            "description": ""
        },
        {
            "id": "DOID:0070193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "name": "autosomal recessive chronic granulomatous disease cytochrome b-negative",
            "description": ""
        },
        {
            "id": "MONDO:0009308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009308",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",
            "description": ""
        },
        {
            "id": "MONDO:0009308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009308",
            "name": "chronic granulomatous disease 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009308",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",
            "description": ""
        },
        {
            "id": "MIM:233690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233690",
            "name": "Granulomatous disease, chronic, autosomal recessive, 4",
            "description": "Granulomatous disease, chronic, autosomal recessive, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070193"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070193",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070193",
            "categories": []
        },
        {
            "id": "MONDO:0009308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009308",
            "categories": []
        },
        {
            "id": "MIM:233690",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233690",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61462-1",
            "uniprot_ac": "Q61462",
            "uniprot_id": "CY24A_MOUSE",
            "refseq_ac": "NP_001288213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-245 light chain",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 light chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 light chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome beta-558",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                },
                {
                    "name": "p22 phox",
                    "type": "synonym"
                },
                {
                    "name": "p22-phox",
                    "type": "synonym"
                },
                {
                    "name": "p22phox",
                    "type": "synonym"
                },
                {
                    "name": "superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyba",
                    "type": "recommended"
                },
                {
                    "name": "Cyba",
                    "type": "synonym"
                },
                {
                    "name": "b558",
                    "type": "synonym"
                },
                {
                    "name": "nmf333",
                    "type": "synonym"
                },
                {
                    "name": "p22-phox",
                    "type": "synonym"
                },
                {
                    "name": "p22phox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61462-1",
            "evidence": [
                {
                    "id": "0070193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13498-1",
            "uniprot_ac": "P13498",
            "uniprot_id": "CY24A_HUMAN",
            "refseq_ac": "NP_000092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-245 light chain",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b light chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b(558) alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 light chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "flavocytochrome b-558 alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                },
                {
                    "name": "p22-phox",
                    "type": "synonym"
                },
                {
                    "name": "p22phox",
                    "type": "synonym"
                },
                {
                    "name": "superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYBA",
                    "type": "recommended"
                },
                {
                    "name": "CGD4",
                    "type": "synonym"
                },
                {
                    "name": "CYBA",
                    "type": "synonym"
                },
                {
                    "name": "p22-PHOX",
                    "type": "synonym"
                }
            ],
            "record_id": "P13498-1",
            "evidence": [
                {
                    "id": "233690",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233690"
                },
                {
                    "id": "0070193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62737-1",
            "uniprot_ac": "Q62737",
            "uniprot_id": "CY24A_RAT",
            "refseq_ac": "NP_077074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-245 light chain",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha-subunit p22",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b(558) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 light chain",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b558 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytochrome b 22 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "p22 phagocyte B-cytochrome",
                    "type": "synonym"
                },
                {
                    "name": "p22-phox",
                    "type": "synonym"
                },
                {
                    "name": "p22phox",
                    "type": "synonym"
                },
                {
                    "name": "superoxide-generating NADPH oxidase light chain subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyba",
                    "type": "recommended"
                },
                {
                    "name": "Cyba",
                    "type": "synonym"
                },
                {
                    "name": "Phox",
                    "type": "synonym"
                },
                {
                    "name": "p22-phox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62737-1",
            "evidence": [
                {
                    "id": "0070193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070193"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070193"
}