{
  "id": 21479,
  "label": "pulmonary hypertension, primary, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024533",
  "properties": {
    "xrefs": [
      "GARD:0025415",
      "MEDGEN:1643124",
      "OMIM:178600",
      "UMLS:C4552070"
    ],
    "synonyms": [
      "BMPR2 primary pulmonary hypertension",
      "primary pulmonary hypertension caused by mutation in BMPR2",
      "pulmonary hypertension, familial primary, 1, with or without HHT",
      "pulmonary hypertension, primary, 1",
      "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated",
      "PHT",
      "PPH1",
      "Pph1 with Hht",
      "pulmonary arterial hypertension",
      "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia",
      "pulmonary hypertension, primary, Dexfenfluramine-associated",
      "pulmonary hypertension, primary, Fenfluramine-associated"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17502,
      "label": "heritable pulmonary arterial hypertension",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16614
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011914",
          "MEDGEN:90953",
          "NANDO:2201047",
          "NCIT:C121945",
          "OMIMPS:178600",
          "Orphanet:275777",
          "SCTID:697897003",
          "UMLS:C0340543",
          "icd11.foundation:943760810"
        ],
        "synonyms": [
          "FPAH",
          "HPAH",
          "HpaH",
          "familial pulmonary arterial hypertension",
          "hereditary pulmonary arterial hypertension"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal."
      },
      "child_count": 14,
      "reference_id": "MONDO:0017148"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17502,
      "label": "heritable pulmonary arterial hypertension"
    }
  ]
}