{
  "id": 22757,
  "label": "hereditary angioedema with C1Inh deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033946",
  "properties": {
    "xrefs": [
      "DOID:0080939",
      "GARD:0022194",
      "MEDGEN:1812520",
      "OMIM:106100",
      "Orphanet:528623",
      "UMLS:C4552294"
    ],
    "synonyms": [
      "angioedema, hereditary, 1 and 2",
      "angioedema, hereditary, type 1/2",
      "C1 esterase inhibitor, deficiency of",
      "HAE1",
      "angioedema, hereditary, type 1",
      "angioedema, hereditary, type 2",
      "angioedema, hereditary, type I",
      "angioneurotic edema, hereditary"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 16028,
      "label": "hereditary angioedema type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22757
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016933",
          "ICD9:279.8",
          "MEDGEN:403466",
          "Orphanet:100050",
          "SCTID:234619000",
          "UMLS:C2717906"
        ],
        "synonyms": [
          "HAE 1",
          "HAE-I",
          "hereditary angioneurotic edema type 1",
          "hereditary angioneurotic oedema type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015053"
    },
    {
      "id": 16029,
      "label": "hereditary angioedema type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22757
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016934",
          "MEDGEN:585077",
          "Orphanet:100051",
          "UMLS:C0398776"
        ],
        "synonyms": [
          "HAE 2",
          "HAE-II",
          "hereditary angioneurotic edema type 2",
          "hereditary angioneurotic oedema type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015054"
    }
  ],
  "roots": [
    {
      "id": 19413,
      "label": "hereditary angioedema"
    }
  ]
}