{
  "id": 23298,
  "label": "disorder of lectin complement activation pathway",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044209",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 14455,
      "label": "immunodeficiency due to MASP-2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23298
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013423"
    },
    {
      "id": 14498,
      "label": "immunodeficiency due to ficolin3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017513",
          "MEDGEN:462576",
          "NANDO:2200794",
          "OMIM:613860",
          "Orphanet:331190",
          "SCTID:766705006",
          "UMLS:C3151226"
        ],
        "synonyms": [
          "Fcn3 deficiency",
          "ficolin 3 deficiency",
          "immunodeficiency due to ficolin 3 deficiency",
          "lectin complement activation pathway, defect in, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013467"
    },
    {
      "id": 14735,
      "label": "mannose-binding lectin deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024941",
          "ICD9:279.19",
          "MEDGEN:482216",
          "MESH:C563602",
          "OMIM:614372",
          "SCTID:703538003",
          "UMLS:C3280586"
        ],
        "synonyms": [
          "mannose-binding lectin deficiency",
          "mannose-binding protein deficiency",
          "MBL deficiency",
          "MBL2 deficiency",
          "MBLD",
          "MBP deficiency",
          "lectin complement activation pathway, defect in, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013714"
    }
  ],
  "roots": [
    {
      "id": 5701,
      "label": "complement deficiency"
    }
  ]
}