{
  "id": 14451,
  "label": "complement component C1s deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013419",
  "properties": {
    "xrefs": [
      "GARD:0015707",
      "MEDGEN:462428",
      "MESH:C565170",
      "NANDO:2200779",
      "OMIM:613783",
      "UMLS:C3151078"
    ],
    "synonyms": [
      "complement component C1s deficiency",
      "C1SD",
      "C1s deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis."
  },
  "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"
    }
  ]
}