{
  "id": 14453,
  "label": "type II complement component 8 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013421",
  "properties": {
    "xrefs": [
      "DOID:0060302",
      "GARD:0010625",
      "HGNC:1353",
      "MEDGEN:462430",
      "OMIM:613789",
      "UMLS:C3151080"
    ],
    "synonyms": [
      "C8 deficiency, type II",
      "C8B classic complement early component deficiency",
      "classic complement early component deficiency caused by mutation in C8B",
      "C8 Beta deficiency",
      "C8 deficiency type II",
      "C8 deficiency, type 2",
      "C8B deficiency",
      "C8D2",
      "Human complement C8-beta deficiency",
      "complement component 8 deficiency type 2",
      "complement component 8 deficiency type II",
      "complement component 8 deficiency, type 2",
      "complement component 8 deficiency, type II",
      "complement component 8B deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene."
  },
  "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": 16464,
      "label": "immunodeficiency due to a late component of complement deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017050",
          "MEDGEN:585067",
          "Orphanet:169150",
          "UMLS:C0398765",
          "icd11.foundation:531050218"
        ],
        "synonyms": [
          "deficiency of complement of terminal pathway",
          "immunodeficiency due to C5 to C9 component complement deficiency",
          "immunodeficiency due to a C5 to C9 component complement deficiency",
          "terminal complement pathway deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015700"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2704,
      "label": "classic complement early component deficiency"
    },
    {
      "id": 16464,
      "label": "immunodeficiency due to a late component of complement deficiency"
    }
  ]
}