{
  "id": 16464,
  "label": "immunodeficiency due to a late component of complement deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015700",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 5701,
      "label": "complement deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:626",
          "ICD9:279.8",
          "MEDGEN:82898",
          "NANDO:1200364",
          "NANDO:2200776",
          "NCIT:C4691",
          "Orphanet:459345",
          "SCTID:24743004",
          "UMLS:C0272242"
        ],
        "synonyms": [
          "complement activation disease",
          "complement deficiency",
          "disorder of complement activation",
          "immunodeficiency due to a complement cascade component deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003832"
    }
  ],
  "children": [
    {
      "id": 13351,
      "label": "complement component 5 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012295"
    },
    {
      "id": 13463,
      "label": "complement component 7 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060300",
          "GARD:0018290",
          "MEDGEN:355270",
          "MESH:C566443",
          "NANDO:2200785",
          "OMIM:610102",
          "UMLS:C1864694"
        ],
        "synonyms": [
          "C7 classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C7",
          "complement component 7 deficiency",
          "C7 deficiency",
          "C7D"
        ],
        "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 C7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012412"
    },
    {
      "id": 13948,
      "label": "complement component 6 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060299",
          "GARD:0018291",
          "MEDGEN:436639",
          "NANDO:2200784",
          "OMIM:612446",
          "UMLS:C2676232"
        ],
        "synonyms": [
          "C6 classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C6",
          "complement component 6 deficiency",
          "C6 deficiency",
          "C6 deficiency, subtotal",
          "C6D",
          "complement component 6 deficiency, subtotal"
        ],
        "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 C6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012908"
    },
    {
      "id": 14453,
      "label": "type II complement component 8 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013421"
    },
    {
      "id": 14454,
      "label": "type I complement component 8 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060301",
          "GARD:0010626",
          "HGNC:1352",
          "MEDGEN:462431",
          "OMIM:613790",
          "UMLS:C3151081"
        ],
        "synonyms": [
          "C8 deficiency, type I",
          "C8A classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C8A",
          "C8 Alpha-gamma deficiency",
          "C8 deficiency type I",
          "C8 deficiency, type 1",
          "C81 deficiency",
          "C8Ag deficiency",
          "C8D1",
          "complement component 8 deficiency type 1",
          "complement component 8 deficiency type I",
          "complement component 8 deficiency, type 1",
          "complement component 8 deficiency, type I"
        ],
        "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 C8A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013422"
    },
    {
      "id": 14477,
      "label": "complement component 9 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060303",
          "GARD:0018292",
          "MEDGEN:462539",
          "MESH:C565165",
          "NANDO:2200787",
          "OMIM:613825",
          "UMLS:C3151189"
        ],
        "synonyms": [
          "C9 classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C9",
          "complement component 9 deficiency",
          "C9 deficiency",
          "C9D"
        ],
        "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 C9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013445"
    }
  ],
  "roots": [
    {
      "id": 5701,
      "label": "complement deficiency"
    }
  ]
}