{
  "id": 10259,
  "label": "complement component C1r/C1s deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009005",
  "properties": {
    "xrefs": [
      "GARD:0015155",
      "MEDGEN:461624",
      "NCIT:C119991",
      "OMIM:216950",
      "UMLS:C3150274",
      "icd11.foundation:448435460"
    ],
    "synonyms": [
      "complement component C1r/C1s deficiency",
      "C1r/C1s deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae."
  },
  "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"
    }
  ]
}