{
    "disease_id": "DOID:0070368",
    "recommended_name": {
        "id": "DOID:0070368",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070368",
        "name": "autosomal recessive chronic granulomatous disease 5",
        "description": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "granulomatous disease, chronic, autosomal recessive, 5",
            "description": ""
        },
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "CGD5",
            "description": ""
        },
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5",
            "description": ""
        },
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "chronic granulomatous disease 5, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "name": "granulomatous disease, chronic, autosomal recessive, 5",
            "description": ""
        },
        {
            "id": "MIM:618935",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618935",
            "name": "Granulomatous disease, chronic, autosomal recessive, 5",
            "description": "Granulomatous disease, chronic, autosomal recessive, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070368"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070368",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070368",
            "categories": []
        },
        {
            "id": "MONDO:0030066",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030066",
            "categories": []
        },
        {
            "id": "MIM:618935",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618935",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DGA7-1",
            "uniprot_ac": "Q6DGA7",
            "uniprot_id": "CYBC1_DANRE",
            "refseq_ac": "NP_001002669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-245 chaperone 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                },
                {
                    "name": "Essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 chaperone 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "eros",
                    "type": "synonym"
                },
                {
                    "name": "essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C17orf62 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cybc1",
                    "type": "recommended"
                },
                {
                    "name": "cybc1",
                    "type": "synonym"
                },
                {
                    "name": "eros",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91940",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGA7-1",
            "evidence": [
                {
                    "id": "0070368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TYS2-1",
            "uniprot_ac": "Q3TYS2",
            "uniprot_id": "CYBC1_MOUSE",
            "refseq_ac": "NP_001239477",
            "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 chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                },
                {
                    "name": "Essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 chaperone 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "eros",
                    "type": "synonym"
                },
                {
                    "name": "essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C17orf62 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cybc1",
                    "type": "recommended"
                },
                {
                    "name": "Cybc1",
                    "type": "synonym"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TYS2-1",
            "evidence": [
                {
                    "id": "0070368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQA9-1",
            "uniprot_ac": "Q9BQA9",
            "uniprot_id": "CYBC1_HUMAN",
            "refseq_ac": "NP_001028218",
            "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 chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                },
                {
                    "name": "Essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 chaperone 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C17orf62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYBC1",
                    "type": "recommended"
                },
                {
                    "name": "C17orf62",
                    "type": "synonym"
                },
                {
                    "name": "CGD5",
                    "type": "synonym"
                },
                {
                    "name": "CYBC1",
                    "type": "synonym"
                },
                {
                    "name": "EROS",
                    "type": "synonym"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQA9-1",
            "evidence": [
                {
                    "id": "618935",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618935"
                },
                {
                    "id": "0070368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYA6-1",
            "uniprot_ac": "Q6AYA6",
            "uniprot_id": "CYBC1_RAT",
            "refseq_ac": "NP_001030131",
            "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 chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                },
                {
                    "name": "Essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-245 chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "eros",
                    "type": "synonym"
                },
                {
                    "name": "essential for reactive oxygen species protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C17orf62 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cybc1",
                    "type": "recommended"
                },
                {
                    "name": "Cybc1",
                    "type": "synonym"
                },
                {
                    "name": "Eros",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYA6-1",
            "evidence": [
                {
                    "id": "0070368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070368"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070368"
}