{
  "id": 19053,
  "label": "hereditary hemorrhagic telangiectasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019180",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 3779,
      "label": "telangiectasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6988,
        20710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1272",
          "MEDGEN:21088",
          "MESH:D013684",
          "NCIT:C28194",
          "SCTID:247479008",
          "UMLS:C0039446"
        ],
        "synonyms": [
          "telangiectasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001576"
    },
    {
      "id": 16809,
      "label": "capillary malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:90955",
          "Orphanet:211247",
          "SCTID:234118009",
          "UMLS:C0340803"
        ],
        "synonyms": [
          "congenital malformation of capillary",
          "rare capillary malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016231"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "children": [
    {
      "id": 9825,
      "label": "telangiectasia, hereditary hemorrhagic, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024627",
          "GTR:AN0097748",
          "GTR:AN0097750",
          "GTR:AN0097757",
          "GTR:AN0195329",
          "MEDGEN:1643786",
          "OMIM:187300",
          "UMLS:C4551861"
        ],
        "synonyms": [
          "HHT1",
          "hereditary hemorrhagic telangiectasia type 1",
          "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber",
          "telangiectasia, hereditary hemorrhagic, type 1",
          "ENG-related Hereditary hemorrhagic telangiectasia",
          "HHT",
          "ORW disease",
          "Osler Weber Rendu syndrome type 1",
          "Osler-Rendu-Weber disease",
          "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008535"
    },
    {
      "id": 12014,
      "label": "telangiectasia, hereditary hemorrhagic, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19053
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010880"
    },
    {
      "id": 12122,
      "label": "hereditary hemorrhagic telangiectasia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009902",
          "MEDGEN:371403",
          "MESH:C537140",
          "OMIM:601101",
          "UMLS:C1832774"
        ],
        "synonyms": [
          "HHT3",
          "ORW3",
          "Osler Weber Rendu syndrome type 3",
          "telangiectasia hereditary hemorrhagic type 3",
          "telangiectasia, hereditary hemorrhagic, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010996"
    },
    {
      "id": 13580,
      "label": "hereditary hemorrhagic telangiectasia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010615",
          "MEDGEN:341824",
          "MESH:C565691",
          "OMIM:610655",
          "UMLS:C1857688"
        ],
        "synonyms": [
          "HHT4",
          "telangiectasia, hereditary hemorrhagic, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012532"
    },
    {
      "id": 15223,
      "label": "telangiectasia, hereditary hemorrhagic, type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015978",
          "MEDGEN:816040",
          "OMIM:615506",
          "UMLS:C3809710"
        ],
        "synonyms": [
          "GDF2 hereditary hemorrhagic telangiectasia",
          "GDF2 related HHT-like syndrome",
          "hereditary hemorrhagic telangiectasia caused by mutation in GDF2",
          "telangiectasia, hereditary hemorrhagic, type 5",
          "HHT5"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014217"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 3779,
      "label": "telangiectasis"
    },
    {
      "id": 16809,
      "label": "capillary malformation"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}