{
    "disease_id": "DOID:0060295",
    "recommended_name": {
        "id": "DOID:0060295",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060295",
        "name": "complement component 2 deficiency",
        "description": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0009006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "name": "complement component 2 deficiency",
            "description": "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion."
        },
        {
            "id": "MONDO:0009006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "name": "C2 complement deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "name": "complement component 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "name": "complement deficiency caused by mutation in C2",
            "description": ""
        },
        {
            "id": "MONDO:0009006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "name": "C2D",
            "description": ""
        },
        {
            "id": "MIM:217000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217000",
            "name": "Complement component 2 deficiency",
            "description": "Complement component 2 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060295"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060295",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060295",
            "categories": []
        },
        {
            "id": "MONDO:0009006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009006",
            "categories": []
        },
        {
            "id": "MIM:217000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/217000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P21180-1",
            "uniprot_ac": "P21180",
            "uniprot_id": "CO2_MOUSE",
            "refseq_ac": "NP_038512",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C2",
                    "type": "recommended"
                },
                {
                    "name": "C3/C5 convertase",
                    "type": "synonym"
                },
                {
                    "name": "MHC complement component C2",
                    "type": "synonym"
                },
                {
                    "name": "classical-complement pathway C3/C5 convertase",
                    "type": "synonym"
                },
                {
                    "name": "complement C2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement component 2 (within H-2S)",
                    "type": "synonym"
                },
                {
                    "name": "complement factor C2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2",
                    "type": "recommended"
                },
                {
                    "name": "C2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21180-1",
            "evidence": [
                {
                    "id": "0060295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06681-1",
            "uniprot_ac": "P06681",
            "uniprot_id": "CO2_HUMAN",
            "refseq_ac": "NP_000054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C2",
                    "type": "recommended"
                },
                {
                    "name": "C3/C5 convertase",
                    "type": "synonym"
                },
                {
                    "name": "complement C2 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement component 2",
                    "type": "synonym"
                },
                {
                    "name": "complement component C2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2",
                    "type": "recommended"
                },
                {
                    "name": "ARMD14",
                    "type": "synonym"
                },
                {
                    "name": "C2",
                    "type": "synonym"
                },
                {
                    "name": "CO2",
                    "type": "synonym"
                }
            ],
            "record_id": "P06681-1",
            "evidence": [
                {
                    "id": "217000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/217000"
                },
                {
                    "id": "0060295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MKF9-1",
            "uniprot_ac": "A0A096MKF9",
            "uniprot_id": "A0A096MKF9_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": "Complement C2",
                    "type": "recommended"
                },
                {
                    "name": "C3/C5 convertase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2",
                    "type": "recommended"
                },
                {
                    "name": "Cfb",
                    "type": "recommended"
                },
                {
                    "name": "C2",
                    "type": "synonym"
                },
                {
                    "name": "Cfb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MKF9-1",
            "evidence": [
                {
                    "id": "0060295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53618-1",
            "uniprot_ac": "P53618",
            "uniprot_id": "COPB_HUMAN",
            "refseq_ac": "NP_001137533",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Beta-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "COPI coat complex subunit beta 1",
                    "type": "synonym"
                },
                {
                    "name": "beta coat protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-cop",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit beta 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPB1",
                    "type": "recommended"
                },
                {
                    "name": "BARMACS",
                    "type": "synonym"
                },
                {
                    "name": "COPB1",
                    "type": "synonym"
                },
                {
                    "name": "COPB",
                    "type": "synonym"
                },
                {
                    "name": "MSTP026",
                    "type": "synonym"
                }
            ],
            "record_id": "P53618-1",
            "evidence": [
                {
                    "id": "0060295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01955-1",
            "uniprot_ac": "Q01955",
            "uniprot_id": "CO4A3_HUMAN",
            "refseq_ac": "NP_000082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "Goodpasture antigen",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen)",
                    "type": "synonym"
                },
                {
                    "name": "tumstatin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A3",
                    "type": "recommended"
                },
                {
                    "name": "ATS2",
                    "type": "synonym"
                },
                {
                    "name": "ATS3A",
                    "type": "synonym"
                },
                {
                    "name": "ATS3B",
                    "type": "synonym"
                },
                {
                    "name": "ATS3",
                    "type": "synonym"
                },
                {
                    "name": "BFH2",
                    "type": "synonym"
                },
                {
                    "name": "COL4A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01955-1",
            "evidence": [
                {
                    "id": "0060295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060295"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060295"
}