{
    "disease_id": "DOID:0060299",
    "recommended_name": {
        "id": "DOID:0060299",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060299",
        "name": "complement component 6 deficiency",
        "description": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "name": "complement component 6 deficiency",
            "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene."
        },
        {
            "id": "MONDO:0012908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "name": "C6 classic complement early component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "name": "classic complement early component deficiency caused by mutation in C6",
            "description": ""
        },
        {
            "id": "MONDO:0012908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "name": "complement component 6 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "name": "C6D",
            "description": ""
        },
        {
            "id": "MIM:612446",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612446",
            "name": "Complement component 6 deficiency",
            "description": "Complement component 6 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060299"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060299",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060299",
            "categories": []
        },
        {
            "id": "MONDO:0012908",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012908",
            "categories": []
        },
        {
            "id": "MIM:612446",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612446",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B846-1",
            "uniprot_ac": "A0A8M2B846",
            "uniprot_id": "A0A8M2B846_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c6.1",
                    "type": "recommended"
                },
                {
                    "name": "c6.2",
                    "type": "recommended"
                },
                {
                    "name": "c6.1",
                    "type": "synonym"
                },
                {
                    "name": "c6",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-22d5.4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64073",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B846-1",
            "evidence": [
                {
                    "id": "0060299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q6D8-1",
            "uniprot_ac": "E9Q6D8",
            "uniprot_id": "CO6_MOUSE",
            "refseq_ac": "NP_057913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C6",
                    "type": "recommended"
                },
                {
                    "name": "complement component C6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C6",
                    "type": "recommended"
                },
                {
                    "name": "C6",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q6D8-1",
            "evidence": [
                {
                    "id": "0060299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13671-1",
            "uniprot_ac": "P13671",
            "uniprot_id": "CO6_HUMAN",
            "refseq_ac": "NP_000056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C6",
                    "type": "recommended"
                },
                {
                    "name": "complement component 6",
                    "type": "synonym"
                },
                {
                    "name": "complement component C6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C6",
                    "type": "recommended"
                },
                {
                    "name": "C6",
                    "type": "synonym"
                }
            ],
            "record_id": "P13671-1",
            "evidence": [
                {
                    "id": "612446",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612446"
                },
                {
                    "id": "0060299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q811M5-1",
            "uniprot_ac": "Q811M5",
            "uniprot_id": "CO6_RAT",
            "refseq_ac": "NP_788263",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C6",
                    "type": "recommended"
                },
                {
                    "name": "complement component 6",
                    "type": "synonym"
                },
                {
                    "name": "complement component C6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C6",
                    "type": "recommended"
                },
                {
                    "name": "C6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q811M5-1",
            "evidence": [
                {
                    "id": "0060299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060299"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060299"
}