{
    "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": []
}