{
  "id": 10260,
  "label": "complement component 2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009006",
  "properties": {
    "xrefs": [
      "DOID:0060295",
      "GARD:0001452",
      "MEDGEN:585060",
      "NANDO:2200781",
      "NCIT:C119992",
      "OMIM:217000",
      "UMLS:C0398756"
    ],
    "synonyms": [
      "C2 complement deficiency",
      "complement component 2 deficiency",
      "complement deficiency caused by mutation in C2",
      "C2 deficiency",
      "C2D"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2704,
      "label": "classic complement early component deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009526",
          "ICD9:279.8",
          "MEDGEN:226929",
          "SCTID:363009005",
          "UMLS:C1285186"
        ],
        "synonyms": [
          "genetic deficiency of early component of the classical complement pathway"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response."
      },
      "child_count": 13,
      "reference_id": "MONDO:0000015"
    },
    {
      "id": 16463,
      "label": "immunodeficiency due to a classical component pathway complement deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015025",
          "MEDGEN:585054",
          "Orphanet:169147",
          "UMLS:C0398750",
          "icd11.foundation:327609494"
        ],
        "synonyms": [
          "immunodeficiency due to C1, C4, or C2 component complement deficiency",
          "immunodeficiency due to a C1, C4, or C2 component complement deficiency",
          "immunodeficiency due to an early component of complement deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015699"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2704,
      "label": "classic complement early component deficiency"
    },
    {
      "id": 16463,
      "label": "immunodeficiency due to a classical component pathway complement deficiency"
    }
  ]
}