{
  "id": 2704,
  "label": "classic complement early component deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000015",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "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": 8754,
      "label": "C1 inhibitor deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060002",
          "GARD:0024554",
          "MEDGEN:343867",
          "NANDO:1200365",
          "NANDO:2200795",
          "OMIM:120790",
          "Orphanet:459353",
          "UMLS:C1852700"
        ],
        "synonyms": [
          "Quincke oedema",
          "complement component 4, partial deficiency OF"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007361"
    },
    {
      "id": 10259,
      "label": "complement component C1r/C1s deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16463
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009005"
    },
    {
      "id": 10260,
      "label": "complement component 2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060295",
          "GARD:0001452",
          "MEDGEN:585060",
          "NANDO:2200781",
          "NCIT:C119992",
          "OMIM:217000",
          "UMLS:C0398756"
        ],
        "synonyms": [
          "C2 complement deficiency",
          "complement component 2 deficiency",
          "complement deficiency caused by mutation in C2",
          "C2 deficiency",
          "C2D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009006"
    },
    {
      "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": 14449,
      "label": "complement component 3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8354",
          "GARD:0016489",
          "MEDGEN:462421",
          "MESH:C565169",
          "NANDO:2200782",
          "NCIT:C9468",
          "OMIM:613779",
          "Orphanet:280133",
          "UMLS:C3151071"
        ],
        "synonyms": [
          "C3 classic complement early component deficiency",
          "C3 deficiency",
          "classic complement early component deficiency caused by mutation in C3",
          "C3 deficiency, autosomal recessive",
          "C3d",
          "complement component 3 deficiency, autosomal recessive"
        ],
        "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 third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013417"
    },
    {
      "id": 14451,
      "label": "complement component C1s deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16463
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013419"
    },
    {
      "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"
    },
    {
      "id": 14741,
      "label": "complement component 4b deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060298",
          "GARD:0015797",
          "MEDGEN:1830476",
          "OMIM:614379",
          "UMLS:C5779962"
        ],
        "synonyms": [
          "C4B classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C4B",
          "complement component 4b deficiency",
          "C4B deficiency",
          "C4BD",
          "complement component 4B 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 C4B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013720"
    },
    {
      "id": 14742,
      "label": "complement component 4a deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2704,
        16463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060297",
          "GARD:0015798",
          "MEDGEN:482272",
          "MESH:C565167",
          "OMIM:614380",
          "UMLS:C3280642"
        ],
        "synonyms": [
          "C4A classic complement early component deficiency",
          "classic complement early component deficiency caused by mutation in C4A",
          "complement component 4a deficiency",
          "C4A deficiency",
          "C4AD",
          "complement component 4A 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 C4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013721"
    }
  ],
  "roots": [
    {
      "id": 5701,
      "label": "complement deficiency"
    }
  ]
}