{
    "disease_id": "DOID:0060002",
    "recommended_name": {
        "id": "DOID:0060002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060002",
        "name": "C1 inhibitor deficiency",
        "description": "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue."
    },
    "synonyms": [
        {
            "id": "DOID:0060002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060002",
            "name": "Quincke edema",
            "description": ""
        },
        {
            "id": "MONDO:0007361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007361",
            "name": "C1 inhibitor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007361",
            "name": "Quincke oedema",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060002",
            "categories": []
        },
        {
            "id": "MONDO:0007361",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007361",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "120790",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/120790"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060002"
}