{
  "id": 16463,
  "label": "immunodeficiency due to a classical component pathway complement deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015699",
  "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"
      }
    ]
  },
  "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": 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": 14378,
      "label": "C1Q deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012958",
          "MEDGEN:462252",
          "NANDO:2200777",
          "NCIT:C119990",
          "OMIMPS:613652",
          "UMLS:C3150902"
        ],
        "synonyms": [
          "C1Q deficiency",
          "C1QD",
          "C1q deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor."
      },
      "child_count": 3,
      "reference_id": "MONDO:0013343"
    },
    {
      "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": 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"
    }
  ]
}