{
    "disease_id": "DOID:0060297",
    "recommended_name": {
        "id": "DOID:0060297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060297",
        "name": "complement component 4a deficiency",
        "description": "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency."
    },
    "synonyms": [
        {
            "id": "MONDO:0013721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "name": "complement component 4a deficiency",
            "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene."
        },
        {
            "id": "MONDO:0013721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "name": "C4A classic complement early component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "name": "classic complement early component deficiency caused by mutation in C4A",
            "description": ""
        },
        {
            "id": "MONDO:0013721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "name": "complement component 4a deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "name": "C4AD",
            "description": ""
        },
        {
            "id": "MIM:614380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614380",
            "name": "Complement component 4A deficiency",
            "description": "Complement component 4A deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060297"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060297",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060297",
            "categories": []
        },
        {
            "id": "MONDO:0013721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013721",
            "categories": []
        },
        {
            "id": "MIM:614380",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614380",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A3K7-1",
            "uniprot_ac": "A0AB13A3K7",
            "uniprot_id": "A0AB13A3K7_DANRE",
            "refseq_ac": "NP_001352066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C4-B",
                    "type": "synonym"
                },
                {
                    "name": "complement 4B (Chido blood group)",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c4b",
                    "type": "recommended"
                },
                {
                    "name": "c4-2",
                    "type": "synonym"
                },
                {
                    "name": "c4bl",
                    "type": "synonym"
                },
                {
                    "name": "c4b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-8k3.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A3K7-1",
            "evidence": [
                {
                    "id": "0060297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01029-1",
            "uniprot_ac": "P01029",
            "uniprot_id": "CO4B_MOUSE",
            "refseq_ac": "NP_033910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C4-B",
                    "type": "recommended"
                },
                {
                    "name": "complement C4-B precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-B",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4 (within H-2S)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4B (Chido blood group)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4B (Childo blood group)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C4b",
                    "type": "recommended"
                },
                {
                    "name": "C4b",
                    "type": "synonym"
                },
                {
                    "name": "C4",
                    "type": "synonym"
                },
                {
                    "name": "Ss",
                    "type": "synonym"
                }
            ],
            "record_id": "P01029-1",
            "evidence": [
                {
                    "id": "0060297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AAQ4VMX2-1",
            "uniprot_ac": "A0AAQ4VMX2",
            "uniprot_id": "CO4A_MOUSE",
            "refseq_ac": "NP_035543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C4-A",
                    "type": "recommended"
                },
                {
                    "name": "Complement C4-A",
                    "type": "synonym"
                },
                {
                    "name": "Complement C4-B",
                    "type": "synonym"
                },
                {
                    "name": "Sex-limited protein",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4A (Rodgers blood group)",
                    "type": "synonym"
                },
                {
                    "name": "sex-limited protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C4a",
                    "type": "recommended"
                },
                {
                    "name": "C4a",
                    "type": "synonym"
                },
                {
                    "name": "C4b",
                    "type": "synonym"
                },
                {
                    "name": "C4",
                    "type": "synonym"
                },
                {
                    "name": "SlpA",
                    "type": "synonym"
                },
                {
                    "name": "Slp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AAQ4VMX2-1",
            "evidence": [
                {
                    "id": "0060297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0L4-1",
            "uniprot_ac": "P0C0L4",
            "uniprot_id": "CO4A_HUMAN",
            "refseq_ac": "NP_001239133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C4-A",
                    "type": "recommended"
                },
                {
                    "name": "Acidic complement C4",
                    "type": "synonym"
                },
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "C4A anaphylatoxin",
                    "type": "synonym"
                },
                {
                    "name": "Complement C4b-alpha' chain",
                    "type": "synonym"
                },
                {
                    "name": "MHC class III region complement",
                    "type": "synonym"
                },
                {
                    "name": "Rodgers form of C4",
                    "type": "synonym"
                },
                {
                    "name": "acidic C4",
                    "type": "synonym"
                },
                {
                    "name": "acidic complement C4",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-A isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-A",
                    "type": "synonym"
                },
                {
                    "name": "complement C4A (Rodgers blood group)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4A (Rodgers blood group)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C4A",
                    "type": "recommended"
                },
                {
                    "name": "C4A2",
                    "type": "synonym"
                },
                {
                    "name": "C4A3",
                    "type": "synonym"
                },
                {
                    "name": "C4A4",
                    "type": "synonym"
                },
                {
                    "name": "C4A6",
                    "type": "synonym"
                },
                {
                    "name": "C4AD",
                    "type": "synonym"
                },
                {
                    "name": "C4A",
                    "type": "synonym"
                },
                {
                    "name": "C4S",
                    "type": "synonym"
                },
                {
                    "name": "C4",
                    "type": "synonym"
                },
                {
                    "name": "CO4",
                    "type": "synonym"
                },
                {
                    "name": "CPAMD2",
                    "type": "synonym"
                },
                {
                    "name": "RG",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0L4-1",
            "evidence": [
                {
                    "id": "614380",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614380"
                },
                {
                    "id": "0060297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08649-1",
            "uniprot_ac": "P08649",
            "uniprot_id": "CO4_RAT",
            "refseq_ac": "NP_113692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C4",
                    "type": "recommended"
                },
                {
                    "name": "complement C4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C4-like",
                    "type": "synonym"
                },
                {
                    "name": "complement C4",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4 (within H-2S)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4, gene 1",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4A (Rodgers blood group)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4B (Chido blood group)",
                    "type": "synonym"
                },
                {
                    "name": "complement component 4B (Childo blood group)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C4a",
                    "type": "recommended"
                },
                {
                    "name": "C4b",
                    "type": "recommended"
                },
                {
                    "name": "C4",
                    "type": "recommended"
                },
                {
                    "name": "C4-1",
                    "type": "synonym"
                },
                {
                    "name": "C4a",
                    "type": "synonym"
                },
                {
                    "name": "C4b",
                    "type": "synonym"
                },
                {
                    "name": "C4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08649-1",
            "evidence": [
                {
                    "id": "0060297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060297"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060297"
}