{
    "disease_id": "DOID:0060302",
    "recommended_name": {
        "id": "DOID:0060302",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060302",
        "name": "type II complement component 8 deficiency",
        "description": "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes."
    },
    "synonyms": [
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "type II complement component 8 deficiency",
            "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene."
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "C8 deficiency, type II",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "C8B classic complement early component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "classic complement early component deficiency caused by mutation in C8B",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "C8 deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "C8D2",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "Human complement C8-beta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "complement component 8 deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "complement component 8 deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0013421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "name": "complement component 8 deficiency, type II",
            "description": ""
        },
        {
            "id": "MIM:613789",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613789",
            "name": "Complement component 8 deficiency, 2",
            "description": "Complement component 8 deficiency, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060302"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060302",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060302",
            "categories": []
        },
        {
            "id": "MONDO:0013421",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013421",
            "categories": []
        },
        {
            "id": "MIM:613789",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613789",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8HAJ8-1",
            "uniprot_ac": "A8HAJ8",
            "uniprot_id": "A8HAJ8_DANRE",
            "refseq_ac": "NP_001243652",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c8b",
                    "type": "recommended"
                },
                {
                    "name": "c8b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-188c16.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi18d09",
                    "type": "synonym"
                }
            ],
            "record_id": "A8HAJ8-1",
            "evidence": [
                {
                    "id": "0060302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH35-1",
            "uniprot_ac": "Q8BH35",
            "uniprot_id": "CO8B_MOUSE",
            "refseq_ac": "NP_001303600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8b",
                    "type": "recommended"
                },
                {
                    "name": "4930439B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "C8b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH35-1",
            "evidence": [
                {
                    "id": "0060302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07358-1",
            "uniprot_ac": "P07358",
            "uniprot_id": "CO8B_HUMAN",
            "refseq_ac": "NP_000057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8B",
                    "type": "recommended"
                },
                {
                    "name": "C82",
                    "type": "synonym"
                },
                {
                    "name": "C8B",
                    "type": "synonym"
                }
            ],
            "record_id": "P07358-1",
            "evidence": [
                {
                    "id": "613789",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613789"
                },
                {
                    "id": "0060302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55314-1",
            "uniprot_ac": "P55314",
            "uniprot_id": "CO8B_RAT",
            "refseq_ac": "NP_001178688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8b",
                    "type": "recommended"
                },
                {
                    "name": "C8b",
                    "type": "synonym"
                }
            ],
            "record_id": "P55314-1",
            "evidence": [
                {
                    "id": "0060302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNS2-1",
            "uniprot_ac": "Q9UNS2",
            "uniprot_id": "CSN3_HUMAN",
            "refseq_ac": "NP_001186054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "COP9 signalosome complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "COP9 complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "COP9 constitutive photomorphogenic homolog subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "COP9 signalosome complex subunit 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "COP9 signalosome complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "JAB1-containing signalosome subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "SGN3",
                    "type": "synonym"
                },
                {
                    "name": "Signalosome subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPS3",
                    "type": "recommended"
                },
                {
                    "name": "COPS3",
                    "type": "synonym"
                },
                {
                    "name": "CSN3",
                    "type": "synonym"
                },
                {
                    "name": "SGN3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNS2-1",
            "evidence": [
                {
                    "id": "0060302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060302"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060302"
}