{
  "id": 12014,
  "label": "telangiectasia, hereditary hemorrhagic, type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010880",
  "properties": {
    "xrefs": [
      "GARD:0009901",
      "MEDGEN:324960",
      "OMIM:600376",
      "UMLS:C1838163"
    ],
    "synonyms": [
      "ACVRL1 hereditary hemorrhagic telangiectasia",
      "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1",
      "telangiectasia, hereditary hemorrhagic, type 2",
      "HHT2",
      "ORW2",
      "Osler Weber Rendu syndrome type 2",
      "hereditary hemorrhagic telangiectasia type 2",
      "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related",
      "telangiectasia hereditary hemorrhagic type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19053,
      "label": "hereditary hemorrhagic telangiectasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3779,
        16809,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1270",
          "GARD:0006626",
          "ICD10CM:I78.0",
          "ICD9:448.0",
          "MEDGEN:52657",
          "MESH:D013683",
          "MedDRA:10019883",
          "NANDO:1200744",
          "NANDO:2100296",
          "NANDO:2201034",
          "NCIT:C35064",
          "NORD:1229",
          "OMIMPS:187300",
          "Orphanet:774",
          "SCTID:21877004",
          "UMLS:C0039445",
          "icd11.foundation:714406192"
        ],
        "synonyms": [
          "HHT",
          "Osler-Weber-Rendu disease",
          "Rendu-Osler disease",
          "Rendu-Osler-Weber disease",
          "hereditary hemorrhagic telangiectasia",
          "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler",
          "telangiectasia, hereditary hemorrhagic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting."
      },
      "child_count": 20,
      "reference_id": "MONDO:0019180"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19053,
      "label": "hereditary hemorrhagic telangiectasia"
    }
  ]
}