{
    "disease_id": "DOID:0070191",
    "recommended_name": {
        "id": "DOID:0070191",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070191",
        "name": "autosomal recessive chronic granulomatous disease 2",
        "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "name": "CDG2",
            "description": ""
        },
        {
            "id": "DOID:0070191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "name": "deficiency of NCF2",
            "description": ""
        },
        {
            "id": "DOID:0070191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "name": "deficiency of p67-PHOX",
            "description": ""
        },
        {
            "id": "DOID:0070191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "name": "chronic granulomatous disease due to deficiency of NCF-2",
            "description": ""
        },
        {
            "id": "DOID:0070191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "name": "autosomal recessive chronic granulomatous disease cytochrome b-positive type II",
            "description": ""
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",
            "description": "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene."
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "NCF2 chronic granulomatous disease",
            "description": ""
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "chronic granulomatous disease 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "chronic granulomatous disease caused by mutation in NCF2",
            "description": ""
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "name": "CDG2",
            "description": ""
        },
        {
            "id": "MIM:233710",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233710",
            "name": "Granulomatous disease, chronic, autosomal recessive, 2",
            "description": "Granulomatous disease, chronic, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070191"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070191",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070191",
            "categories": []
        },
        {
            "id": "MONDO:0009310",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009310",
            "categories": []
        },
        {
            "id": "MIM:233710",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233710",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70145-1",
            "uniprot_ac": "O70145",
            "uniprot_id": "NCF2_MOUSE",
            "refseq_ac": "NP_035007",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "67 kDa neutrophil oxidase factor",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase activator 2",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase subunit (67kDa)",
                    "type": "synonym"
                },
                {
                    "name": "NCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 2",
                    "type": "synonym"
                },
                {
                    "name": "p67-phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf2",
                    "type": "recommended"
                },
                {
                    "name": "NOXA2",
                    "type": "synonym"
                },
                {
                    "name": "Ncf-2",
                    "type": "synonym"
                },
                {
                    "name": "Ncf2",
                    "type": "synonym"
                },
                {
                    "name": "Noxa2",
                    "type": "synonym"
                },
                {
                    "name": "P67phox",
                    "type": "synonym"
                },
                {
                    "name": "p67phox",
                    "type": "synonym"
                }
            ],
            "record_id": "O70145-1",
            "evidence": [
                {
                    "id": "0070191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19878-1",
            "uniprot_ac": "P19878",
            "uniprot_id": "NCF2_HUMAN",
            "refseq_ac": "NP_000424",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "67 kDa neutrophil oxidase factor",
                    "type": "synonym"
                },
                {
                    "name": "NADPH oxidase activator 2",
                    "type": "synonym"
                },
                {
                    "name": "NCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil NADPH oxidase factor 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosol factor 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)",
                    "type": "synonym"
                },
                {
                    "name": "p67-phox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCF2",
                    "type": "recommended"
                },
                {
                    "name": "NCF-2",
                    "type": "synonym"
                },
                {
                    "name": "NCF2",
                    "type": "synonym"
                },
                {
                    "name": "NOXA2",
                    "type": "synonym"
                },
                {
                    "name": "P67-PHOX",
                    "type": "synonym"
                },
                {
                    "name": "P67PHOX",
                    "type": "synonym"
                }
            ],
            "record_id": "P19878-1",
            "evidence": [
                {
                    "id": "233710",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233710"
                },
                {
                    "id": "0070191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070191"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A7E3N2-1",
            "uniprot_ac": "A7E3N2",
            "uniprot_id": "NCF2_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 cytosol factor 2",
                    "type": "recommended"
                },
                {
                    "name": "NCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil NADPH oxidase factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncf2",
                    "type": "recommended"
                }
            ],
            "record_id": "A7E3N2-1",
            "evidence": [
                {
                    "id": "0070191",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070191"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070191"
}