{
  "id": 24292,
  "label": "hereditary angioedema with normal C1Inh",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100567",
  "properties": {
    "xrefs": [
      "GARD:0022195",
      "MEDGEN:743231",
      "Orphanet:528647",
      "UMLS:C1960459"
    ],
    "synonyms": [
      "HAE with normal C1 inhibitor",
      "HAE with normal C1Inh",
      "hereditary angioedema with normal C1 inhibitor",
      "hereditary angioneurotic edema with normal C1 inhibitor",
      "hereditary angioneurotic edema with normal C1Inh"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19413,
      "label": "hereditary angioedema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        11639,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14735",
          "GARD:0005979",
          "MEDGEN:9229",
          "MESH:D054179",
          "MedDRA:10019860",
          "NANDO:1200365",
          "NANDO:2200795",
          "NCIT:C84758",
          "OMIMPS:106100",
          "Orphanet:91378",
          "SCTID:82966003",
          "UMLS:C0019243",
          "icd11.foundation:795969334"
        ],
        "synonyms": [
          "HAE",
          "familial angioneurotic edema",
          "familial angioneurotic oedema",
          "hereditary angioedema",
          "hereditary angioneurotic edema",
          "hereditary angioneurotic oedema",
          "hereditary bradykinine-induced angioedema",
          "hereditary non histamine-induced angioedema",
          "angioedema, hereditary",
          "deficiency of C1 esterase inhibitor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."
      },
      "child_count": 20,
      "reference_id": "MONDO:0019623"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19413,
      "label": "hereditary angioedema"
    }
  ]
}