{
  "id": 17502,
  "label": "heritable pulmonary arterial hypertension",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017148",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16614,
      "label": "pulmonary arterial hypertension",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6873
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0001361",
          "GARD:0007501",
          "MEDGEN:425404",
          "MESH:D000081029",
          "MedDRA:10064911",
          "NANDO:1200425",
          "NANDO:2100103",
          "NANDO:2200298",
          "NORD:1634",
          "Orphanet:182090",
          "Orphanet:422",
          "SCTID:11399002",
          "UMLS:C2973725",
          "icd11.foundation:1931148955"
        ],
        "synonyms": [
          "PAH",
          "pulmonary arterial hypertension",
          "PAH with overt features of venous/capillaries involvement",
          "PVOD/PCH",
          "PPH",
          "idiopathic pulmonary hypertension"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0015924"
    }
  ],
  "children": [
    {
      "id": 11137,
      "label": "pulmonary hypertension, primary, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024700",
          "MEDGEN:1802382",
          "MESH:C564862",
          "OMIM:265400",
          "UMLS:C5676877"
        ],
        "synonyms": [
          "PPH5",
          "pulmonary hypertension, primary, 5, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009935"
    },
    {
      "id": 15141,
      "label": "pulmonary hypertension, primary, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018394",
          "MEDGEN:854709",
          "OMIM:615342",
          "UMLS:C3888002"
        ],
        "synonyms": [
          "SMAD9 primary pulmonary hypertension",
          "primary pulmonary hypertension caused by mutation in SMAD9",
          "pulmonary hypertension, primary, 2",
          "pulmonary hypertension, primary, type 2",
          "PPH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014134"
    },
    {
      "id": 15142,
      "label": "pulmonary hypertension, primary, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024973",
          "MEDGEN:815522",
          "OMIM:615343",
          "UMLS:C3809192"
        ],
        "synonyms": [
          "CAV1 primary pulmonary hypertension",
          "primary pulmonary hypertension caused by mutation in CAV1",
          "pulmonary hypertension, primary, 3",
          "pulmonary hypertension, primary, type 3",
          "PPH3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014135"
    },
    {
      "id": 15143,
      "label": "pulmonary hypertension, primary, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024974",
          "MEDGEN:815528",
          "OMIM:615344",
          "UMLS:C3809198"
        ],
        "synonyms": [
          "KCNK3 primary pulmonary hypertension",
          "primary pulmonary hypertension caused by mutation in KCNK3",
          "pulmonary hypertension, primary, 4",
          "pulmonary hypertension, primary, type 4",
          "PPH4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014136"
    },
    {
      "id": 21479,
      "label": "pulmonary hypertension, primary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024533"
    },
    {
      "id": 25937,
      "label": "pulmonary hypertension, primary, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027014",
          "MEDGEN:1863339",
          "OMIM:620777",
          "UMLS:C5935600"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958334"
    },
    {
      "id": 26246,
      "label": "pulmonary hypertension, primary, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028111",
          "MEDGEN:1876459",
          "OMIM:621248",
          "UMLS:C6012740"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979237"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16614,
      "label": "pulmonary arterial hypertension"
    }
  ]
}