{
  "id": 14455,
  "label": "immunodeficiency due to MASP-2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013423",
  "properties": {
    "xrefs": [
      "GARD:0017512",
      "MEDGEN:462435",
      "MESH:C565360",
      "NANDO:2200793",
      "OMIM:613791",
      "Orphanet:331187",
      "UMLS:C3151085"
    ],
    "synonyms": [
      "immunodeficiency due to MASP-2 deficiency",
      "MASP2 deficiency",
      "lectin complement activation pathway, defect in, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23298,
      "label": "disorder of lectin complement activation pathway"
    }
  ]
}