{
  "id": 19413,
  "label": "hereditary angioedema",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019623",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 11639,
      "label": "angioedema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7148,
        19142
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "CSP:2716-7007",
          "DOID:1558",
          "EFO:0005532",
          "HP:0100665",
          "ICD9:995.1",
          "MEDGEN:1543",
          "MESH:D000799",
          "SCTID:400075008",
          "UMLS:C0002994"
        ],
        "synonyms": [
          "Edemas, angioneurotic",
          "Quincke edema",
          "Quincke oedema",
          "Quincke's edema",
          "Quincke's oedema",
          "Quinckes edema",
          "Quinckes oedema",
          "Urticarias, giant",
          "angioedemas",
          "angioneurotic Edemas",
          "edema, Quincke's",
          "edema, angioneurotic",
          "giant Urticarias",
          "giant urticaria",
          "urticaria, giant",
          "angioneurotic edema",
          "angioneurotic oedema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010481"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 13574,
      "label": "hereditary angioedema type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080940",
          "GARD:0016935",
          "ICD9:277.6",
          "MEDGEN:346653",
          "MESH:D056828",
          "OMIM:610618",
          "Orphanet:100054",
          "SCTID:427167008",
          "UMLS:C1857728"
        ],
        "synonyms": [
          "F12 hereditary angioedema",
          "HAE 3",
          "HAE-III",
          "angioedema, hereditary, 3",
          "hereditary angioedema caused by mutation in F12",
          "hereditary angioedema type 3",
          "hereditary angioneurotic edema type 3",
          "hereditary angioneurotic oedema type 3",
          "inherited estrogen-associated angioedema",
          "inherited estrogen-associated angioneurotic edema",
          "inherited estrogen-associated angioneurotic oedema",
          "inherited estrogen-dependent angioedema",
          "inherited estrogen-dependent angioneurotic edema",
          "inherited estrogen-dependent angioneurotic oedema",
          "HAE3",
          "Hae 3",
          "Hae with normal C1 inhibitor concentration and function",
          "angioedema, hereditary, type 3",
          "angioedema, hereditary, type III",
          "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function",
          "estrogen-related Hae",
          "estrogen-sensitive Hae",
          "hereditary angioedema with normal C1 inhibitor activity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hereditary angioedema type 3 (HAE 3) 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:0012526"
    },
    {
      "id": 21260,
      "label": "angioedema, hereditary, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025373",
          "MEDGEN:1785484",
          "OMIM:619363",
          "UMLS:C5543516"
        ],
        "synonyms": [
          "HAE6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023660"
    },
    {
      "id": 21720,
      "label": "angioedema, hereditary, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025481",
          "MEDGEN:1787336",
          "OMIM:619360",
          "UMLS:C5543503"
        ],
        "synonyms": [
          "HAE4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0025712"
    },
    {
      "id": 21721,
      "label": "angioedema, hereditary, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025482",
          "MEDGEN:1784046",
          "OMIM:619366",
          "UMLS:C5543526"
        ],
        "synonyms": [
          "HAE7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0025713"
    },
    {
      "id": 21867,
      "label": "angioedema, hereditary, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025529",
          "MEDGEN:1780904",
          "OMIM:619361",
          "UMLS:C5543508"
        ],
        "synonyms": [
          "HAE5",
          "angioedema, hereditary, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030293"
    },
    {
      "id": 21870,
      "label": "angioedema, hereditary, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025530",
          "MEDGEN:1780930",
          "OMIM:619367",
          "UMLS:C5543528"
        ],
        "synonyms": [
          "HAE8",
          "angioedema, hereditary, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030298"
    },
    {
      "id": 22757,
      "label": "hereditary angioedema with C1Inh deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0033946"
    },
    {
      "id": 22811,
      "label": "PLG-related hereditary angioedema with normal C1inh",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022217",
          "ICD10CM:D84.1",
          "MEDGEN:1843266",
          "Orphanet:537072",
          "UMLS:C5680155"
        ],
        "synonyms": [
          "PLG-related HAE with normal C1 inhibitor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035220"
    },
    {
      "id": 22896,
      "label": "hereditary angioedema with normal C1inh not related to F12 or PLG variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022406",
          "MEDGEN:1843147",
          "Orphanet:599418",
          "UMLS:C5681601"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035734"
    },
    {
      "id": 24292,
      "label": "hereditary angioedema with normal C1Inh",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19413
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100567"
    }
  ],
  "roots": [
    {
      "id": 11639,
      "label": "angioedema"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}