{
  "id": 13351,
  "label": "complement component 5 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012295",
  "properties": {
    "xrefs": [
      "DOID:8158",
      "GARD:0002191",
      "MEDGEN:91003",
      "NANDO:2200783",
      "NCIT:C9469",
      "OMIM:609536",
      "UMLS:C0343047"
    ],
    "synonyms": [
      "C5 complement deficiency",
      "C5 deficiency",
      "complement component 5 deficiency",
      "complement deficiency caused by mutation in C5",
      "C5D",
      "dysfunction of the fifth component of complement (C5)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections."
  },
  "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"
    }
  ]
}