{
  "id": 5701,
  "label": "complement deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003832",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [
    {
      "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": 13641,
      "label": "complement factor I deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050419",
          "GARD:0017098",
          "MEDGEN:483045",
          "MESH:C572568",
          "NANDO:2200790",
          "NANDO:2200798",
          "OMIM:610984",
          "Orphanet:200418",
          "UMLS:C3463916"
        ],
        "synonyms": [
          "C3 inactivator deficiency",
          "complement component 3 inactivator deficiency",
          "complement factor I deficiency",
          "CFID",
          "complement Factor 1 deficiency",
          "immunodeficiency with factor I anomaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012594"
    },
    {
      "id": 14518,
      "label": "recurrent Neisseria infections due to factor D deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017055",
          "ICD9:279.8",
          "MEDGEN:97989",
          "MESH:C565027",
          "NANDO:2200788",
          "OMIM:613912",
          "Orphanet:169467",
          "SCTID:234607008",
          "UMLS:C0398764",
          "icd11.foundation:528757185"
        ],
        "synonyms": [
          "recurrent Neisseria infections due to factor D deficiency",
          "CFDD",
          "complement factor D deficiency",
          "factor D deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013487"
    },
    {
      "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"
    },
    {
      "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"
    },
    {
      "id": 16818,
      "label": "atypical hemolytic-uremic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5701,
        19495,
        25595
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080301",
          "GARD:0008702",
          "MEDGEN:444141",
          "MESH:D065766",
          "NANDO:1200473",
          "NANDO:1200474",
          "NANDO:2200131",
          "NANDO:2200641",
          "NCIT:C123223",
          "NORD:822",
          "Orphanet:2134",
          "UMLS:C2931788"
        ],
        "synonyms": [
          "Atypical Hemolytic Uremic Syndrome",
          "D-HUS",
          "aHUS",
          "atypical HUS",
          "atypical hemolytic uremic syndrome",
          "hemolytic-uremic syndrome without diarrhea",
          "hemolytic-uremic syndrome without diarrhoea",
          "non-diarrhea-associated hemolytic uremic syndrome",
          "D-minus hemolytic uremic syndrome (D-HUS)",
          "HUS, atypical"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016244"
    },
    {
      "id": 21004,
      "label": "complement receptor deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009527",
          "ICD9:279.8",
          "MEDGEN:96025",
          "SCTID:234628004",
          "UMLS:C0398783"
        ],
        "synonyms": [
          "complement receptor deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder with basis in disruption of a complement receptor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0022812"
    },
    {
      "id": 23298,
      "label": "disorder of lectin complement activation pathway",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025884",
          "OMIMPS:614372"
        ],
        "synonyms": [
          "complement activation, lectin pathway disease",
          "disorder of complement activation, lectin pathway"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of complement activation, lectin pathway."
      },
      "child_count": 3,
      "reference_id": "MONDO:0044209"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}